Incidental Mutation 'R7146:Dscam'
| ID |
553838 |
| 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 |
045251-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7146 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
96392040-96971952 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 96631117 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 299
(Y299*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056040
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056102]
|
| AlphaFold |
Q9ERC8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056102
AA Change: Y299*
|
| SMART Domains |
Protein: ENSMUSP00000056040
Gene: ENSMUSG00000050272
AA Change: Y299*
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
95% (99/104) |
| 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: 100 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
T |
7: 119,854,520 (GRCm39) |
I895F |
probably benign |
Het |
| Abca16 |
A |
G |
7: 120,126,974 (GRCm39) |
N1222D |
possibly damaging |
Het |
| Abcc4 |
A |
T |
14: 118,852,593 (GRCm39) |
Y499N |
probably damaging |
Het |
| Adgrg7 |
A |
C |
16: 56,550,605 (GRCm39) |
C702W |
probably damaging |
Het |
| Adk |
C |
A |
14: 21,376,682 (GRCm39) |
P27H |
|
Het |
| Ankrd13a |
T |
C |
5: 114,913,293 (GRCm39) |
S2P |
probably damaging |
Het |
| Ano1 |
T |
C |
7: 144,209,393 (GRCm39) |
H269R |
probably benign |
Het |
| Aox3 |
T |
A |
1: 58,197,688 (GRCm39) |
|
probably null |
Het |
| Asl |
G |
A |
5: 130,053,290 (GRCm39) |
|
probably benign |
Het |
| Asxl2 |
A |
T |
12: 3,507,066 (GRCm39) |
D86V |
probably damaging |
Het |
| Ate1 |
A |
T |
7: 130,083,508 (GRCm39) |
|
probably null |
Het |
| Bach2 |
A |
G |
4: 32,562,670 (GRCm39) |
D379G |
probably damaging |
Het |
| Bdkrb1 |
T |
A |
12: 105,571,142 (GRCm39) |
L236Q |
probably damaging |
Het |
| Cacna2d3 |
T |
C |
14: 29,443,654 (GRCm39) |
Y24C |
unknown |
Het |
| Cage1 |
G |
T |
13: 38,207,025 (GRCm39) |
N273K |
probably benign |
Het |
| Ccdc51 |
T |
A |
9: 108,920,848 (GRCm39) |
I245N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,456,325 (GRCm39) |
I229V |
probably benign |
Het |
| Chst4 |
T |
A |
8: 110,757,363 (GRCm39) |
S167C |
probably damaging |
Het |
| Cntnap4 |
A |
T |
8: 113,537,268 (GRCm39) |
Y713F |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 99,978,519 (GRCm39) |
|
probably null |
Het |
| Cog8 |
G |
T |
8: 107,779,005 (GRCm39) |
T424K |
possibly damaging |
Het |
| Cop1 |
T |
G |
1: 159,071,922 (GRCm39) |
|
probably null |
Het |
| Cyp2j6 |
A |
G |
4: 96,434,019 (GRCm39) |
I97T |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,088,698 (GRCm39) |
T131A |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 117,972,936 (GRCm39) |
D1999G |
probably damaging |
Het |
| Dnah8 |
A |
G |
17: 30,863,591 (GRCm39) |
D250G |
probably benign |
Het |
| Dnah8 |
T |
C |
17: 30,988,618 (GRCm39) |
V3196A |
possibly damaging |
Het |
| Efcab3 |
A |
G |
11: 104,858,578 (GRCm39) |
N3879S |
unknown |
Het |
| Efcab3 |
A |
C |
11: 104,913,764 (GRCm39) |
D4594A |
probably benign |
Het |
| Ephb1 |
A |
G |
9: 101,841,157 (GRCm39) |
S774P |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,403,962 (GRCm39) |
V238I |
probably benign |
Het |
| Fermt1 |
C |
T |
2: 132,776,785 (GRCm39) |
M234I |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,958,552 (GRCm39) |
S212L |
|
Het |
| Frem1 |
T |
C |
4: 82,840,532 (GRCm39) |
N1798S |
possibly damaging |
Het |
| Gabrd |
T |
A |
4: 155,469,863 (GRCm39) |
M449L |
probably benign |
Het |
| Gad1 |
T |
C |
2: 70,417,706 (GRCm39) |
F302L |
probably benign |
Het |
| Gm10800 |
A |
AC |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Gm21886 |
GGGCCTGCAGACAGTAGGTGCTCACTAGGGCCTGTAAATAGTAGGTGCTCACTGAGGCCTGTAGACAGTAGGTGCTCA |
GGGCCTGTAGACAGTAGGTGCTCA |
18: 80,132,697 (GRCm39) |
|
probably benign |
Het |
| Gnb3 |
C |
T |
6: 124,813,887 (GRCm39) |
|
probably null |
Het |
| Gtf3c1 |
A |
T |
7: 125,271,993 (GRCm39) |
M642K |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,063,050 (GRCm39) |
W838R |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,273,343 (GRCm39) |
W527R |
|
Het |
| Ighe |
A |
T |
12: 113,235,975 (GRCm39) |
I117N |
|
Het |
| Ighv1-50 |
T |
C |
12: 115,083,396 (GRCm39) |
E108G |
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,538 (GRCm39) |
P176S |
probably damaging |
Het |
| Lamb2 |
T |
A |
9: 108,361,283 (GRCm39) |
L605Q |
possibly damaging |
Het |
| Lgi3 |
G |
A |
14: 70,770,832 (GRCm39) |
R157H |
probably damaging |
Het |
| Lrp1b |
G |
T |
2: 41,266,006 (GRCm39) |
C1053* |
probably null |
Het |
| Mcpt9 |
A |
T |
14: 56,264,445 (GRCm39) |
S217T |
probably damaging |
Het |
| Mgat4c |
T |
G |
10: 102,224,357 (GRCm39) |
N190K |
probably damaging |
Het |
| Mknk1 |
T |
A |
4: 115,721,789 (GRCm39) |
V111D |
probably damaging |
Het |
| Mmp11 |
T |
C |
10: 75,764,280 (GRCm39) |
T62A |
probably benign |
Het |
| Mmp1b |
C |
A |
9: 7,385,014 (GRCm39) |
V212F |
probably damaging |
Het |
| Mmp7 |
A |
G |
9: 7,697,587 (GRCm39) |
|
probably null |
Het |
| Muc5b |
C |
T |
7: 141,417,704 (GRCm39) |
T3550M |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Nphp3 |
A |
T |
9: 103,882,036 (GRCm39) |
K169* |
probably null |
Het |
| Npy6r |
G |
T |
18: 44,408,788 (GRCm39) |
V70F |
probably benign |
Het |
| Nsun2 |
T |
A |
13: 69,774,672 (GRCm39) |
|
probably null |
Het |
| Oplah |
T |
A |
15: 76,186,860 (GRCm39) |
I652F |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,710,271 (GRCm39) |
N348S |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,454,409 (GRCm39) |
V263D |
probably damaging |
Het |
| Pcdhga1 |
C |
A |
18: 37,795,164 (GRCm39) |
T56N |
probably benign |
Het |
| Pdk4 |
A |
G |
6: 5,491,068 (GRCm39) |
|
probably null |
Het |
| Pfkp |
C |
A |
13: 6,652,817 (GRCm39) |
V434F |
probably benign |
Het |
| Phospho1 |
G |
A |
11: 95,721,732 (GRCm39) |
R134H |
probably damaging |
Het |
| Polg2 |
G |
T |
11: 106,663,572 (GRCm39) |
Q374K |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,379,571 (GRCm39) |
|
probably null |
Het |
| Rassf3 |
C |
T |
10: 121,252,052 (GRCm39) |
E120K |
probably benign |
Het |
| Reln |
A |
T |
5: 22,311,095 (GRCm39) |
S273T |
probably damaging |
Het |
| Scarb1 |
C |
T |
5: 125,361,089 (GRCm39) |
A133T |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,313,486 (GRCm39) |
K1142N |
probably damaging |
Het |
| Sema3c |
G |
A |
5: 17,899,701 (GRCm39) |
V398I |
probably benign |
Het |
| Serpine1 |
C |
A |
5: 137,099,918 (GRCm39) |
Q80H |
probably damaging |
Het |
| Sh3gl1 |
G |
A |
17: 56,324,646 (GRCm39) |
T334M |
probably damaging |
Het |
| Smg7 |
T |
C |
1: 152,737,576 (GRCm39) |
N122D |
probably benign |
Het |
| Speer4b |
T |
C |
5: 27,703,708 (GRCm39) |
I144V |
probably benign |
Het |
| Spire2 |
T |
A |
8: 124,095,989 (GRCm39) |
D671E |
probably benign |
Het |
| Sspo |
A |
T |
6: 48,478,029 (GRCm39) |
H5144L |
probably benign |
Het |
| Sstr2 |
A |
T |
11: 113,516,179 (GRCm39) |
Q366L |
probably damaging |
Het |
| Ssu72 |
T |
C |
4: 155,815,850 (GRCm39) |
F98S |
probably damaging |
Het |
| Syde2 |
C |
T |
3: 145,712,870 (GRCm39) |
Q1003* |
probably null |
Het |
| Tapbp |
G |
A |
17: 34,144,461 (GRCm39) |
A186T |
possibly damaging |
Het |
| Tcf12 |
T |
A |
9: 71,790,385 (GRCm39) |
|
probably null |
Het |
| Tnfrsf22 |
A |
T |
7: 143,194,556 (GRCm39) |
C124S |
probably damaging |
Het |
| Txlnb |
A |
T |
10: 17,703,546 (GRCm39) |
T235S |
possibly damaging |
Het |
| Uaca |
T |
C |
9: 60,777,695 (GRCm39) |
L694P |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,083,197 (GRCm39) |
N1620Y |
probably damaging |
Het |
| Vmn2r10 |
C |
T |
5: 109,151,200 (GRCm39) |
C138Y |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r28 |
T |
A |
7: 5,484,495 (GRCm39) |
E568D |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,097,895 (GRCm39) |
H57Q |
possibly damaging |
Het |
| Vwa5b1 |
A |
G |
4: 138,308,923 (GRCm39) |
S756P |
probably benign |
Het |
| Washc5 |
C |
A |
15: 59,224,350 (GRCm39) |
E470* |
probably null |
Het |
| Xpot |
A |
T |
10: 121,442,678 (GRCm39) |
V508D |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,976,087 (GRCm39) |
K785N |
possibly damaging |
Het |
| Zfp653 |
T |
C |
9: 21,977,195 (GRCm39) |
N119D |
probably damaging |
Het |
| Zfp729b |
A |
G |
13: 67,741,495 (GRCm39) |
S257P |
probably damaging |
Het |
| Zfp82 |
T |
A |
7: 29,755,592 (GRCm39) |
T497S |
probably benign |
Het |
| Znrf4 |
T |
G |
17: 56,819,305 (GRCm39) |
M1L |
probably benign |
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 |
|
R0492:Dscam
|
UTSW |
16 |
96,626,982 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
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'- GCATTAATCTGGTGCCCTCATG -3'
(R):5'- GCTGCCTTGCAAAGCACTTG -3'
Sequencing Primer
(F):5'- AACCATGTGGGCAATTTTCCAGC -3'
(R):5'- TTGCAAAGCACTTGGGCAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation