Incidental Mutation 'R0492:Dscam'
| ID |
42593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dscam
|
| Ensembl Gene |
ENSMUSG00000050272 |
| Gene Name |
DS cell adhesion molecule |
| Synonyms |
4932410A21Rik, Down syndrome cell adhesion molecule |
| MMRRC Submission |
038690-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0492 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
96392040-96971952 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 96626982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056102]
[ENSMUST00000056102]
[ENSMUST00000056102]
|
| AlphaFold |
Q9ERC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056102
|
| SMART Domains |
Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
37 |
109 |
1.47e0 |
SMART |
|
IG
|
130 |
218 |
8.33e-1 |
SMART |
|
IGc2
|
237 |
300 |
8.7e-13 |
SMART |
|
IGc2
|
326 |
392 |
1.24e-8 |
SMART |
|
IGc2
|
419 |
491 |
1.1e-9 |
SMART |
|
IGc2
|
516 |
582 |
1.99e-7 |
SMART |
|
IGc2
|
608 |
676 |
1.84e-11 |
SMART |
|
IGc2
|
702 |
773 |
6.01e-16 |
SMART |
|
IG
|
794 |
883 |
1.73e-7 |
SMART |
|
FN3
|
885 |
969 |
7.34e-9 |
SMART |
|
FN3
|
985 |
1073 |
4.06e-11 |
SMART |
|
FN3
|
1088 |
1174 |
7.23e-8 |
SMART |
|
FN3
|
1189 |
1270 |
2.6e-9 |
SMART |
|
IGc2
|
1301 |
1366 |
2.05e-9 |
SMART |
|
FN3
|
1380 |
1460 |
7.17e-12 |
SMART |
|
FN3
|
1477 |
1557 |
4.35e1 |
SMART |
|
transmembrane domain
|
1595 |
1617 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056102
|
| SMART Domains |
Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
37 |
109 |
1.47e0 |
SMART |
|
IG
|
130 |
218 |
8.33e-1 |
SMART |
|
IGc2
|
237 |
300 |
8.7e-13 |
SMART |
|
IGc2
|
326 |
392 |
1.24e-8 |
SMART |
|
IGc2
|
419 |
491 |
1.1e-9 |
SMART |
|
IGc2
|
516 |
582 |
1.99e-7 |
SMART |
|
IGc2
|
608 |
676 |
1.84e-11 |
SMART |
|
IGc2
|
702 |
773 |
6.01e-16 |
SMART |
|
IG
|
794 |
883 |
1.73e-7 |
SMART |
|
FN3
|
885 |
969 |
7.34e-9 |
SMART |
|
FN3
|
985 |
1073 |
4.06e-11 |
SMART |
|
FN3
|
1088 |
1174 |
7.23e-8 |
SMART |
|
FN3
|
1189 |
1270 |
2.6e-9 |
SMART |
|
IGc2
|
1301 |
1366 |
2.05e-9 |
SMART |
|
FN3
|
1380 |
1460 |
7.17e-12 |
SMART |
|
FN3
|
1477 |
1557 |
4.35e1 |
SMART |
|
transmembrane domain
|
1595 |
1617 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1809 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056102
|
| SMART Domains |
Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
| Domain | Start | End | E-Value | Type |
|---|
|
IG_like
|
37 |
109 |
1.47e0 |
SMART |
|
IG
|
130 |
218 |
8.33e-1 |
SMART |
|
IGc2
|
237 |
300 |
8.7e-13 |
SMART |
|
IGc2
|
326 |
392 |
1.24e-8 |
SMART |
|
IGc2
|
419 |
491 |
1.1e-9 |
SMART |
|
IGc2
|
516 |
582 |
1.99e-7 |
SMART |
|
IGc2
|
608 |
676 |
1.84e-11 |
SMART |
|
IGc2
|
702 |
773 |
6.01e-16 |
SMART |
|
IG
|
794 |
883 |
1.73e-7 |
SMART |
|
FN3
|
885 |
969 |
7.34e-9 |
SMART |
|
FN3
|
985 |
1073 |
4.06e-11 |
SMART |
|
FN3
|
1088 |
1174 |
7.23e-8 |
SMART |
|
FN3
|
1189 |
1270 |
2.6e-9 |
SMART |
|
IGc2
|
1301 |
1366 |
2.05e-9 |
SMART |
|
FN3
|
1380 |
1460 |
7.17e-12 |
SMART |
|
FN3
|
1477 |
1557 |
4.35e1 |
SMART |
|
transmembrane domain
|
1595 |
1617 |
N/A |
INTRINSIC |
|
low complexity region
|
1799 |
1809 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
99% (99/100) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the immunoglobulin superfamily of cell adhesion molecules (Ig-CAMs), and is involved in human central and peripheral nervous system development. This gene is a candidate for Down syndrome and congenital heart disease (DSCHD). A gene encoding a similar Ig-CAM protein is located on chromosome 11. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit background-sensitive perinatal lethality associated with respiratory distress, altered C4 ventral root and pre-inspiratory neuron signaling, and abnormal response to hypercapnia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(9) : Targeted(6) Gene trapped(1) Spontaneous(2)
|
| Other mutations in this stock |
Total: 98 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
C |
G |
4: 129,901,624 (GRCm39) |
P416R |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,709,742 (GRCm39) |
D133G |
unknown |
Het |
| Alpl |
A |
C |
4: 137,476,887 (GRCm39) |
|
probably null |
Het |
| Ankrd65 |
T |
C |
4: 155,875,133 (GRCm39) |
|
probably benign |
Het |
| Baalc |
A |
T |
15: 38,797,480 (GRCm39) |
|
probably benign |
Het |
| Bpifb5 |
A |
G |
2: 154,070,820 (GRCm39) |
T204A |
probably benign |
Het |
| Bud31 |
A |
G |
5: 145,083,265 (GRCm39) |
Y77C |
probably damaging |
Het |
| Calhm6 |
G |
A |
10: 34,003,647 (GRCm39) |
R87* |
probably null |
Het |
| Capsl |
A |
G |
15: 9,461,930 (GRCm39) |
|
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,956,004 (GRCm39) |
V116A |
probably damaging |
Het |
| Cdc42bpa |
C |
A |
1: 179,928,755 (GRCm39) |
H723N |
probably benign |
Het |
| Cfap161 |
T |
C |
7: 83,443,245 (GRCm39) |
I40V |
possibly damaging |
Het |
| CK137956 |
C |
T |
4: 127,845,093 (GRCm39) |
V217I |
probably benign |
Het |
| Cog5 |
A |
G |
12: 31,919,460 (GRCm39) |
T540A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,196,995 (GRCm39) |
W349R |
probably damaging |
Het |
| Crispld2 |
G |
T |
8: 120,752,806 (GRCm39) |
V285L |
probably benign |
Het |
| Crtc2 |
T |
A |
3: 90,170,804 (GRCm39) |
F626I |
probably damaging |
Het |
| Daam1 |
G |
A |
12: 71,991,154 (GRCm39) |
R256H |
unknown |
Het |
| Dhx38 |
G |
T |
8: 110,288,576 (GRCm39) |
|
probably benign |
Het |
| Dok4 |
G |
A |
8: 95,591,764 (GRCm39) |
A324V |
probably benign |
Het |
| Dusp16 |
A |
T |
6: 134,695,365 (GRCm39) |
S489T |
probably benign |
Het |
| Ecpas |
A |
G |
4: 58,864,418 (GRCm39) |
W288R |
probably damaging |
Het |
| Erbin |
A |
T |
13: 103,970,866 (GRCm39) |
Y917N |
probably damaging |
Het |
| F13b |
A |
T |
1: 139,450,297 (GRCm39) |
|
probably null |
Het |
| Fdx1 |
C |
A |
9: 51,874,725 (GRCm39) |
A15S |
probably benign |
Het |
| Ffar4 |
A |
T |
19: 38,085,630 (GRCm39) |
Q19L |
probably benign |
Het |
| Folh1 |
A |
C |
7: 86,395,400 (GRCm39) |
V344G |
probably damaging |
Het |
| Fscb |
T |
A |
12: 64,520,292 (GRCm39) |
E391D |
possibly damaging |
Het |
| Gigyf2 |
G |
A |
1: 87,368,568 (GRCm39) |
G1083R |
probably damaging |
Het |
| Gm14403 |
C |
A |
2: 177,200,359 (GRCm39) |
H102N |
probably benign |
Het |
| Gm4847 |
A |
G |
1: 166,457,961 (GRCm39) |
F464S |
probably damaging |
Het |
| Gpam |
A |
T |
19: 55,084,611 (GRCm39) |
M56K |
possibly damaging |
Het |
| Gpr165 |
T |
A |
X: 95,760,778 (GRCm39) |
F352I |
probably damaging |
Het |
| Grik2 |
T |
G |
10: 48,977,260 (GRCm39) |
I891L |
probably damaging |
Het |
| Gsr |
T |
C |
8: 34,171,603 (GRCm39) |
|
probably benign |
Het |
| Hhla1 |
A |
G |
15: 65,808,140 (GRCm39) |
F302L |
probably benign |
Het |
| Impg1 |
T |
C |
9: 80,252,590 (GRCm39) |
D453G |
possibly damaging |
Het |
| Inpp5d |
T |
A |
1: 87,625,872 (GRCm39) |
V495E |
possibly damaging |
Het |
| Iqca1l |
A |
T |
5: 24,759,626 (GRCm39) |
L48Q |
probably damaging |
Het |
| Iqce |
A |
T |
5: 140,660,990 (GRCm39) |
L450H |
probably damaging |
Het |
| Itfg2 |
A |
G |
6: 128,390,486 (GRCm39) |
|
probably null |
Het |
| Kif13a |
A |
G |
13: 46,966,218 (GRCm39) |
V400A |
possibly damaging |
Het |
| Kif7 |
T |
C |
7: 79,363,629 (GRCm39) |
Y93C |
probably damaging |
Het |
| Krt33a |
A |
G |
11: 99,906,909 (GRCm39) |
V22A |
probably benign |
Het |
| Lct |
T |
C |
1: 128,228,319 (GRCm39) |
D1058G |
probably damaging |
Het |
| Lrp6 |
G |
T |
6: 134,457,481 (GRCm39) |
D774E |
possibly damaging |
Het |
| Lrrc9 |
T |
A |
12: 72,525,537 (GRCm39) |
S828R |
possibly damaging |
Het |
| Ly75 |
A |
G |
2: 60,138,620 (GRCm39) |
W1416R |
probably damaging |
Het |
| Mdh2 |
T |
C |
5: 135,819,004 (GRCm39) |
I320T |
possibly damaging |
Het |
| Med13l |
T |
A |
5: 118,876,560 (GRCm39) |
V912E |
probably damaging |
Het |
| Mgarp |
T |
C |
3: 51,296,456 (GRCm39) |
D182G |
possibly damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,698 (GRCm39) |
|
probably benign |
Het |
| Mmp28 |
G |
A |
11: 83,334,629 (GRCm39) |
A375V |
probably damaging |
Het |
| Mrps23 |
T |
A |
11: 88,101,511 (GRCm39) |
H133Q |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,282,679 (GRCm39) |
S35P |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,328,447 (GRCm39) |
D347G |
possibly damaging |
Het |
| Npc1l1 |
T |
C |
11: 6,173,040 (GRCm39) |
K800E |
possibly damaging |
Het |
| Or2ag13 |
A |
T |
7: 106,473,084 (GRCm39) |
Y123N |
probably damaging |
Het |
| Or51ai2 |
T |
C |
7: 103,586,971 (GRCm39) |
I128T |
probably benign |
Het |
| Or5i1 |
T |
G |
2: 87,613,166 (GRCm39) |
I94S |
probably damaging |
Het |
| Or5m9 |
T |
C |
2: 85,876,931 (GRCm39) |
V35A |
probably benign |
Het |
| Or5m9 |
T |
C |
2: 85,877,278 (GRCm39) |
F151L |
possibly damaging |
Het |
| Or5t7 |
G |
A |
2: 86,506,834 (GRCm39) |
P281L |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,129 (GRCm39) |
I45N |
possibly damaging |
Het |
| Osmr |
A |
C |
15: 6,853,999 (GRCm39) |
W570G |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,117 (GRCm39) |
I370F |
probably damaging |
Het |
| Pank2 |
A |
G |
2: 131,122,180 (GRCm39) |
Y235C |
probably damaging |
Het |
| Pias2 |
T |
C |
18: 77,193,581 (GRCm39) |
S187P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,383,086 (GRCm39) |
N1115S |
probably benign |
Het |
| Pld1 |
G |
T |
3: 28,163,966 (GRCm39) |
A800S |
probably damaging |
Het |
| Prex2 |
T |
C |
1: 11,256,857 (GRCm39) |
|
probably benign |
Het |
| Ptpn3 |
T |
C |
4: 57,194,304 (GRCm39) |
Q908R |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,984,589 (GRCm39) |
|
probably benign |
Het |
| Rbm24 |
A |
T |
13: 46,573,826 (GRCm39) |
N82Y |
probably damaging |
Het |
| Rpl27 |
T |
C |
11: 101,336,081 (GRCm39) |
V47A |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,659,826 (GRCm39) |
V152A |
possibly damaging |
Het |
| Serpina5 |
A |
G |
12: 104,068,392 (GRCm39) |
Y151C |
probably damaging |
Het |
| Serpinb7 |
A |
G |
1: 107,379,737 (GRCm39) |
*381W |
probably null |
Het |
| Sh2b2 |
A |
G |
5: 136,261,117 (GRCm39) |
F33S |
probably damaging |
Het |
| Slc22a2 |
A |
C |
17: 12,834,159 (GRCm39) |
I476L |
probably benign |
Het |
| Slc6a12 |
A |
T |
6: 121,332,331 (GRCm39) |
I222F |
probably benign |
Het |
| Smim26 |
G |
A |
2: 144,437,033 (GRCm39) |
D61N |
probably damaging |
Het |
| Soat1 |
A |
T |
1: 156,268,924 (GRCm39) |
Y209N |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,902,667 (GRCm39) |
H1630R |
probably null |
Het |
| Sptlc2 |
A |
T |
12: 87,393,580 (GRCm39) |
|
probably null |
Het |
| Strn3 |
G |
A |
12: 51,657,187 (GRCm39) |
T642I |
probably damaging |
Het |
| Syce1l |
T |
A |
8: 114,380,700 (GRCm39) |
D137E |
possibly damaging |
Het |
| Syne2 |
T |
C |
12: 76,028,837 (GRCm39) |
|
probably null |
Het |
| Tcf25 |
C |
A |
8: 124,108,203 (GRCm39) |
P86Q |
probably benign |
Het |
| Tmem19 |
A |
T |
10: 115,197,715 (GRCm39) |
Y43* |
probably null |
Het |
| Tmem30b |
T |
C |
12: 73,592,942 (GRCm39) |
N58D |
probably benign |
Het |
| Tnn |
A |
C |
1: 159,948,327 (GRCm39) |
I795M |
probably damaging |
Het |
| Tnpo1 |
A |
G |
13: 98,991,954 (GRCm39) |
Y641H |
probably damaging |
Het |
| Tra2a |
A |
T |
6: 49,227,889 (GRCm39) |
|
probably benign |
Het |
| Trappc8 |
A |
T |
18: 20,999,243 (GRCm39) |
F295I |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,809,245 (GRCm39) |
W125R |
probably damaging |
Het |
| Vps8 |
C |
A |
16: 21,261,107 (GRCm39) |
F82L |
probably damaging |
Het |
| Ythdf2 |
A |
T |
4: 131,931,779 (GRCm39) |
S460R |
probably damaging |
Het |
|
| Other mutations in Dscam |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00515:Dscam
|
APN |
16 |
96,409,265 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL00841:Dscam
|
APN |
16 |
96,621,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01289:Dscam
|
APN |
16 |
96,445,082 (GRCm39) |
nonsense |
probably null |
|
|
IGL01358:Dscam
|
APN |
16 |
96,411,543 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01431:Dscam
|
APN |
16 |
96,453,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01444:Dscam
|
APN |
16 |
96,474,909 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01767:Dscam
|
APN |
16 |
96,456,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01866:Dscam
|
APN |
16 |
96,486,550 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02020:Dscam
|
APN |
16 |
96,517,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02023:Dscam
|
APN |
16 |
96,602,397 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02057:Dscam
|
APN |
16 |
96,517,273 (GRCm39) |
nonsense |
probably null |
|
|
IGL02389:Dscam
|
APN |
16 |
96,442,097 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL02409:Dscam
|
APN |
16 |
96,621,088 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
IGL02694:Dscam
|
APN |
16 |
96,394,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02899:Dscam
|
APN |
16 |
96,510,447 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02956:Dscam
|
APN |
16 |
96,602,472 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03035:Dscam
|
APN |
16 |
96,621,170 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL03191:Dscam
|
APN |
16 |
96,621,969 (GRCm39) |
missense |
probably benign |
0.36 |
|
growler
|
UTSW |
16 |
96,622,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Twostep
|
UTSW |
16 |
96,626,982 (GRCm39) |
splice site |
probably null |
|
|
F6893:Dscam
|
UTSW |
16 |
96,857,660 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
K3955:Dscam
|
UTSW |
16 |
96,474,887 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0024:Dscam
|
UTSW |
16 |
96,394,585 (GRCm39) |
nonsense |
probably null |
|
|
R0057:Dscam
|
UTSW |
16 |
96,474,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0057:Dscam
|
UTSW |
16 |
96,474,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0117:Dscam
|
UTSW |
16 |
96,474,878 (GRCm39) |
missense |
probably benign |
0.33 |
|
R0211:Dscam
|
UTSW |
16 |
96,517,279 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0280:Dscam
|
UTSW |
16 |
96,840,206 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0355:Dscam
|
UTSW |
16 |
96,456,105 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0380:Dscam
|
UTSW |
16 |
96,857,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0445:Dscam
|
UTSW |
16 |
96,573,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0534:Dscam
|
UTSW |
16 |
96,453,372 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R0593:Dscam
|
UTSW |
16 |
96,573,608 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0707:Dscam
|
UTSW |
16 |
96,626,982 (GRCm39) |
splice site |
probably null |
|
|
R0738:Dscam
|
UTSW |
16 |
96,620,981 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1017:Dscam
|
UTSW |
16 |
96,634,633 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1377:Dscam
|
UTSW |
16 |
96,573,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1440:Dscam
|
UTSW |
16 |
96,621,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1442:Dscam
|
UTSW |
16 |
96,409,274 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1464:Dscam
|
UTSW |
16 |
96,602,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1464:Dscam
|
UTSW |
16 |
96,602,453 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1478:Dscam
|
UTSW |
16 |
96,592,110 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1530:Dscam
|
UTSW |
16 |
96,621,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1731:Dscam
|
UTSW |
16 |
96,621,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Dscam
|
UTSW |
16 |
96,486,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1824:Dscam
|
UTSW |
16 |
96,626,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1933:Dscam
|
UTSW |
16 |
96,394,414 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2005:Dscam
|
UTSW |
16 |
96,840,120 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2006:Dscam
|
UTSW |
16 |
96,621,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2101:Dscam
|
UTSW |
16 |
96,411,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2177:Dscam
|
UTSW |
16 |
96,411,524 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2342:Dscam
|
UTSW |
16 |
96,420,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2851:Dscam
|
UTSW |
16 |
96,423,915 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2929:Dscam
|
UTSW |
16 |
96,486,612 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R3055:Dscam
|
UTSW |
16 |
96,602,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3157:Dscam
|
UTSW |
16 |
96,479,710 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3159:Dscam
|
UTSW |
16 |
96,479,710 (GRCm39) |
missense |
probably benign |
0.16 |
|
R3944:Dscam
|
UTSW |
16 |
96,622,197 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4080:Dscam
|
UTSW |
16 |
96,484,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4285:Dscam
|
UTSW |
16 |
96,510,309 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4384:Dscam
|
UTSW |
16 |
96,510,416 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4460:Dscam
|
UTSW |
16 |
96,411,519 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Dscam
|
UTSW |
16 |
96,626,823 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4594:Dscam
|
UTSW |
16 |
96,519,196 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4643:Dscam
|
UTSW |
16 |
96,486,501 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4698:Dscam
|
UTSW |
16 |
96,411,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4716:Dscam
|
UTSW |
16 |
96,420,771 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4743:Dscam
|
UTSW |
16 |
96,631,256 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4766:Dscam
|
UTSW |
16 |
96,445,188 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4899:Dscam
|
UTSW |
16 |
96,485,018 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4987:Dscam
|
UTSW |
16 |
96,498,721 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4990:Dscam
|
UTSW |
16 |
96,626,715 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5123:Dscam
|
UTSW |
16 |
96,573,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5130:Dscam
|
UTSW |
16 |
96,620,979 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5328:Dscam
|
UTSW |
16 |
96,474,878 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5666:Dscam
|
UTSW |
16 |
96,519,364 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5670:Dscam
|
UTSW |
16 |
96,519,364 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5678:Dscam
|
UTSW |
16 |
96,592,100 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5827:Dscam
|
UTSW |
16 |
96,451,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5907:Dscam
|
UTSW |
16 |
96,622,120 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6032:Dscam
|
UTSW |
16 |
96,451,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6032:Dscam
|
UTSW |
16 |
96,451,191 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6103:Dscam
|
UTSW |
16 |
96,626,781 (GRCm39) |
missense |
probably benign |
|
|
R6240:Dscam
|
UTSW |
16 |
96,420,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Dscam
|
UTSW |
16 |
96,474,914 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6361:Dscam
|
UTSW |
16 |
96,424,011 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6405:Dscam
|
UTSW |
16 |
96,479,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6444:Dscam
|
UTSW |
16 |
96,420,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6560:Dscam
|
UTSW |
16 |
96,626,935 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6598:Dscam
|
UTSW |
16 |
96,620,984 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6622:Dscam
|
UTSW |
16 |
96,446,273 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6792:Dscam
|
UTSW |
16 |
96,449,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6792:Dscam
|
UTSW |
16 |
96,394,455 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6827:Dscam
|
UTSW |
16 |
96,840,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6868:Dscam
|
UTSW |
16 |
96,631,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6898:Dscam
|
UTSW |
16 |
96,631,100 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6903:Dscam
|
UTSW |
16 |
96,621,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Dscam
|
UTSW |
16 |
96,620,986 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7146:Dscam
|
UTSW |
16 |
96,631,117 (GRCm39) |
nonsense |
probably null |
|
|
R7180:Dscam
|
UTSW |
16 |
96,626,764 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7209:Dscam
|
UTSW |
16 |
96,451,544 (GRCm39) |
splice site |
probably null |
|
|
R7247:Dscam
|
UTSW |
16 |
96,622,008 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7269:Dscam
|
UTSW |
16 |
96,479,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7301:Dscam
|
UTSW |
16 |
96,857,732 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7328:Dscam
|
UTSW |
16 |
96,446,235 (GRCm39) |
nonsense |
probably null |
|
|
R7368:Dscam
|
UTSW |
16 |
96,445,131 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7425:Dscam
|
UTSW |
16 |
96,430,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7474:Dscam
|
UTSW |
16 |
96,621,089 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7536:Dscam
|
UTSW |
16 |
96,442,226 (GRCm39) |
splice site |
probably null |
|
|
R7624:Dscam
|
UTSW |
16 |
96,411,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7766:Dscam
|
UTSW |
16 |
96,592,101 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7817:Dscam
|
UTSW |
16 |
96,442,064 (GRCm39) |
missense |
probably benign |
|
|
R7843:Dscam
|
UTSW |
16 |
96,626,830 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7911:Dscam
|
UTSW |
16 |
96,445,122 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8108:Dscam
|
UTSW |
16 |
96,445,079 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8128:Dscam
|
UTSW |
16 |
96,602,374 (GRCm39) |
splice site |
probably null |
|
|
R8770:Dscam
|
UTSW |
16 |
96,456,106 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8876:Dscam
|
UTSW |
16 |
96,420,828 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9005:Dscam
|
UTSW |
16 |
96,602,580 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9009:Dscam
|
UTSW |
16 |
96,840,116 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9168:Dscam
|
UTSW |
16 |
96,420,768 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9176:Dscam
|
UTSW |
16 |
96,486,553 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9244:Dscam
|
UTSW |
16 |
96,486,429 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9339:Dscam
|
UTSW |
16 |
96,517,263 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9374:Dscam
|
UTSW |
16 |
96,857,857 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9385:Dscam
|
UTSW |
16 |
96,840,203 (GRCm39) |
missense |
probably benign |
|
|
R9674:Dscam
|
UTSW |
16 |
96,442,036 (GRCm39) |
missense |
probably benign |
0.03 |
|
X0025:Dscam
|
UTSW |
16 |
96,510,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Dscam
|
UTSW |
16 |
96,573,761 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Dscam
|
UTSW |
16 |
96,409,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTCAAGGACCACCTGGACATAG -3'
(R):5'- ACTAAGGCTAGGCCATCAGTGCTC -3'
Sequencing Primer
(F):5'- CACCTGGACATAGTCTTGAGCAG -3'
(R):5'- CAAGCCCAACAGGGTTTTTTG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation