Incidental Mutation 'R4719:Dscaml1'
ID |
354308 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dscaml1
|
Ensembl Gene |
ENSMUSG00000032087 |
Gene Name |
DS cell adhesion molecule like 1 |
Synonyms |
4921507G06Rik, 4930435C18Rik |
MMRRC Submission |
041957-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.416)
|
Stock # |
R4719 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45338735-45665011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45583993 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 486
(M486T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034592]
[ENSMUST00000213919]
|
AlphaFold |
Q4VA61 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034592
AA Change: M486T
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000034592 Gene: ENSMUSG00000032087 AA Change: M486T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
17 |
N/A |
INTRINSIC |
low complexity region
|
28 |
55 |
N/A |
INTRINSIC |
IG_like
|
96 |
168 |
1.22e0 |
SMART |
IG
|
189 |
277 |
1.15e-3 |
SMART |
IGc2
|
296 |
359 |
2.54e-14 |
SMART |
IGc2
|
385 |
451 |
8.12e-13 |
SMART |
IGc2
|
478 |
550 |
9.55e-10 |
SMART |
IGc2
|
575 |
640 |
9.78e-7 |
SMART |
IGc2
|
666 |
734 |
5.93e-6 |
SMART |
IGc2
|
760 |
832 |
6.75e-10 |
SMART |
IG
|
853 |
943 |
1e-3 |
SMART |
FN3
|
945 |
1029 |
6.64e-7 |
SMART |
FN3
|
1045 |
1133 |
9.46e-12 |
SMART |
FN3
|
1148 |
1234 |
3.2e-9 |
SMART |
FN3
|
1249 |
1332 |
3.48e-10 |
SMART |
IGc2
|
1363 |
1428 |
1.49e-11 |
SMART |
FN3
|
1442 |
1522 |
3.42e-9 |
SMART |
FN3
|
1537 |
1618 |
2.14e-1 |
SMART |
low complexity region
|
1671 |
1683 |
N/A |
INTRINSIC |
low complexity region
|
2018 |
2026 |
N/A |
INTRINSIC |
low complexity region
|
2035 |
2069 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000213919
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000216078
|
Meta Mutation Damage Score |
0.0691 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
99% (76/77) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the Ig superfamily of cell adhesion molecules and is involved in neuronal differentiation. The encoded membrane-bound protein localizes to the cell surface, where it forms aggregates that repel neuronal processes of the same cell type. [provided by RefSeq, Sep 2016] PHENOTYPE: Mice homozygous for a gene trapped allele exhibit impaired self-avoidance in multiple cell types in the retina. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Gene trapped(4) |
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
T |
C |
2: 69,089,971 (GRCm39) |
Y971C |
probably damaging |
Het |
Actr5 |
T |
A |
2: 158,468,433 (GRCm39) |
S188T |
probably damaging |
Het |
Adamtsl4 |
A |
G |
3: 95,586,896 (GRCm39) |
|
probably null |
Het |
Agbl2 |
A |
G |
2: 90,645,733 (GRCm39) |
N822S |
probably benign |
Het |
Ankdd1b |
T |
A |
13: 96,554,255 (GRCm39) |
|
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,242,395 (GRCm39) |
|
probably benign |
Het |
Art5 |
A |
G |
7: 101,747,701 (GRCm39) |
|
probably null |
Het |
Atpsckmt |
T |
G |
15: 31,608,243 (GRCm39) |
V98G |
probably damaging |
Het |
Cacna1s |
T |
C |
1: 136,046,390 (GRCm39) |
|
probably benign |
Het |
Car9 |
G |
A |
4: 43,508,616 (GRCm39) |
W42* |
probably null |
Het |
Cdh20 |
T |
C |
1: 104,862,035 (GRCm39) |
Y72H |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,043,718 (GRCm39) |
D407G |
possibly damaging |
Het |
Cngb3 |
T |
A |
4: 19,309,562 (GRCm39) |
D73E |
probably benign |
Het |
Col6a4 |
A |
T |
9: 105,945,451 (GRCm39) |
F888I |
probably damaging |
Het |
Dgat2 |
T |
C |
7: 98,807,504 (GRCm39) |
D222G |
probably benign |
Het |
Faim2 |
C |
T |
15: 99,425,460 (GRCm39) |
|
probably null |
Het |
Fance |
T |
C |
17: 28,537,293 (GRCm39) |
|
probably benign |
Het |
Fancm |
G |
T |
12: 65,168,480 (GRCm39) |
M1614I |
possibly damaging |
Het |
Fcrl5 |
A |
T |
3: 87,351,496 (GRCm39) |
N248I |
probably damaging |
Het |
Foxo3 |
G |
A |
10: 42,073,774 (GRCm39) |
R29W |
probably damaging |
Het |
Gabbr2 |
A |
G |
4: 46,718,797 (GRCm39) |
Y74H |
probably damaging |
Het |
Gatd1 |
A |
C |
7: 140,990,981 (GRCm39) |
D55E |
probably benign |
Het |
Gpr152 |
C |
A |
19: 4,193,223 (GRCm39) |
Q255K |
possibly damaging |
Het |
Havcr1 |
A |
G |
11: 46,643,268 (GRCm39) |
T63A |
probably benign |
Het |
Hltf |
T |
C |
3: 20,118,865 (GRCm39) |
|
probably null |
Het |
Ifit3b |
A |
T |
19: 34,590,030 (GRCm39) |
Q402L |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,322,828 (GRCm39) |
L134S |
probably benign |
Het |
Kcna10 |
A |
G |
3: 107,102,217 (GRCm39) |
T283A |
probably benign |
Het |
Kmt2e |
A |
C |
5: 23,697,313 (GRCm39) |
R590S |
probably damaging |
Het |
Lefty1 |
A |
T |
1: 180,765,277 (GRCm39) |
N282Y |
probably benign |
Het |
Loxl4 |
T |
A |
19: 42,596,030 (GRCm39) |
Y141F |
probably benign |
Het |
Lrrn2 |
T |
C |
1: 132,866,915 (GRCm39) |
V660A |
probably benign |
Het |
Lyst |
T |
C |
13: 13,824,935 (GRCm39) |
S1517P |
probably benign |
Het |
Mcoln2 |
A |
G |
3: 145,881,468 (GRCm39) |
H208R |
probably benign |
Het |
Mdga2 |
C |
T |
12: 66,517,775 (GRCm39) |
|
probably benign |
Het |
Mpp2 |
T |
A |
11: 101,955,259 (GRCm39) |
E122V |
possibly damaging |
Het |
Mrgprb5 |
T |
C |
7: 47,818,526 (GRCm39) |
N70D |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,343,500 (GRCm39) |
E37D |
possibly damaging |
Het |
Nbeal1 |
T |
A |
1: 60,274,722 (GRCm39) |
|
probably null |
Het |
Ncoa6 |
T |
C |
2: 155,233,081 (GRCm39) |
|
probably benign |
Het |
Nfib |
C |
A |
4: 82,422,967 (GRCm39) |
|
probably null |
Het |
Nostrin |
G |
T |
2: 68,975,156 (GRCm39) |
G24* |
probably null |
Het |
Nudc |
A |
G |
4: 133,260,576 (GRCm39) |
Y293H |
probably damaging |
Het |
Or51a42 |
T |
A |
7: 103,707,940 (GRCm39) |
N290Y |
probably damaging |
Het |
Pcmtd1 |
T |
A |
1: 7,225,325 (GRCm39) |
Y41* |
probably null |
Het |
Pigt |
T |
C |
2: 164,343,544 (GRCm39) |
L340P |
probably damaging |
Het |
Pomgnt1 |
T |
C |
4: 116,012,972 (GRCm39) |
Y420H |
probably damaging |
Het |
Pramel6 |
C |
T |
2: 87,341,096 (GRCm39) |
T476I |
probably benign |
Het |
Ptprn2 |
T |
A |
12: 116,788,016 (GRCm39) |
H118Q |
possibly damaging |
Het |
Rasl10a |
G |
A |
11: 5,008,517 (GRCm39) |
S71N |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,310,893 (GRCm39) |
I804V |
probably benign |
Het |
Rps4l-ps |
T |
C |
7: 114,526,537 (GRCm39) |
|
noncoding transcript |
Het |
Sash1 |
T |
A |
10: 8,605,477 (GRCm39) |
H971L |
probably benign |
Het |
Secisbp2 |
T |
A |
13: 51,806,768 (GRCm39) |
F54L |
possibly damaging |
Het |
Senp1 |
A |
T |
15: 97,954,731 (GRCm39) |
H484Q |
probably benign |
Het |
Slc12a1 |
T |
C |
2: 124,995,913 (GRCm39) |
I22T |
possibly damaging |
Het |
Slc25a36 |
A |
G |
9: 96,972,172 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,140,731 (GRCm39) |
S1443T |
probably benign |
Het |
Sv2c |
T |
C |
13: 96,123,319 (GRCm39) |
T385A |
probably benign |
Het |
Tas2r131 |
T |
A |
6: 132,933,936 (GRCm39) |
H291L |
probably damaging |
Het |
Thbs3 |
A |
G |
3: 89,124,147 (GRCm39) |
D80G |
probably damaging |
Het |
Tnxb |
C |
T |
17: 34,908,394 (GRCm39) |
S1349L |
probably damaging |
Het |
Toporsl |
A |
G |
4: 52,611,996 (GRCm39) |
R630G |
probably benign |
Het |
Vmn1r43 |
C |
A |
6: 89,846,837 (GRCm39) |
M216I |
probably benign |
Het |
Wdr17 |
T |
A |
8: 55,092,911 (GRCm39) |
E1068D |
probably benign |
Het |
Wnt10a |
G |
A |
1: 74,842,762 (GRCm39) |
V413I |
probably damaging |
Het |
Zfp141 |
T |
C |
7: 42,126,111 (GRCm39) |
|
probably null |
Het |
Zfp169 |
T |
C |
13: 48,643,634 (GRCm39) |
I498V |
probably benign |
Het |
|
Other mutations in Dscaml1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Dscaml1
|
APN |
9 |
45,581,498 (GRCm39) |
nonsense |
probably null |
|
IGL00497:Dscaml1
|
APN |
9 |
45,663,536 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00895:Dscaml1
|
APN |
9 |
45,662,551 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01011:Dscaml1
|
APN |
9 |
45,594,970 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01086:Dscaml1
|
APN |
9 |
45,613,960 (GRCm39) |
splice site |
probably benign |
|
IGL01125:Dscaml1
|
APN |
9 |
45,660,930 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL01132:Dscaml1
|
APN |
9 |
45,663,626 (GRCm39) |
nonsense |
probably null |
|
IGL01356:Dscaml1
|
APN |
9 |
45,658,155 (GRCm39) |
missense |
probably benign |
0.03 |
IGL01459:Dscaml1
|
APN |
9 |
45,653,981 (GRCm39) |
nonsense |
probably null |
|
IGL01552:Dscaml1
|
APN |
9 |
45,359,206 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02033:Dscaml1
|
APN |
9 |
45,595,080 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02044:Dscaml1
|
APN |
9 |
45,658,241 (GRCm39) |
nonsense |
probably null |
|
IGL02095:Dscaml1
|
APN |
9 |
45,359,001 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02166:Dscaml1
|
APN |
9 |
45,594,999 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02262:Dscaml1
|
APN |
9 |
45,643,378 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02262:Dscaml1
|
APN |
9 |
45,656,414 (GRCm39) |
missense |
probably benign |
|
IGL02340:Dscaml1
|
APN |
9 |
45,581,474 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02604:Dscaml1
|
APN |
9 |
45,655,626 (GRCm39) |
unclassified |
probably benign |
|
IGL02619:Dscaml1
|
APN |
9 |
45,359,094 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02805:Dscaml1
|
APN |
9 |
45,359,195 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03409:Dscaml1
|
APN |
9 |
45,581,401 (GRCm39) |
missense |
probably damaging |
1.00 |
D3080:Dscaml1
|
UTSW |
9 |
45,595,623 (GRCm39) |
missense |
probably benign |
0.44 |
IGL03050:Dscaml1
|
UTSW |
9 |
45,654,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R0149:Dscaml1
|
UTSW |
9 |
45,653,978 (GRCm39) |
nonsense |
probably null |
|
R0582:Dscaml1
|
UTSW |
9 |
45,579,562 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0629:Dscaml1
|
UTSW |
9 |
45,632,716 (GRCm39) |
missense |
probably damaging |
0.98 |
R0632:Dscaml1
|
UTSW |
9 |
45,643,432 (GRCm39) |
missense |
probably benign |
0.06 |
R0815:Dscaml1
|
UTSW |
9 |
45,656,372 (GRCm39) |
missense |
probably benign |
0.00 |
R1162:Dscaml1
|
UTSW |
9 |
45,663,647 (GRCm39) |
splice site |
probably benign |
|
R1449:Dscaml1
|
UTSW |
9 |
45,653,521 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1474:Dscaml1
|
UTSW |
9 |
45,596,519 (GRCm39) |
missense |
probably damaging |
1.00 |
R1481:Dscaml1
|
UTSW |
9 |
45,583,941 (GRCm39) |
missense |
probably benign |
0.01 |
R1533:Dscaml1
|
UTSW |
9 |
45,361,882 (GRCm39) |
missense |
probably damaging |
0.99 |
R1542:Dscaml1
|
UTSW |
9 |
45,660,738 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1572:Dscaml1
|
UTSW |
9 |
45,632,631 (GRCm39) |
missense |
probably benign |
0.00 |
R1627:Dscaml1
|
UTSW |
9 |
45,664,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R1634:Dscaml1
|
UTSW |
9 |
45,584,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R1713:Dscaml1
|
UTSW |
9 |
45,663,988 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1777:Dscaml1
|
UTSW |
9 |
45,595,054 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1812:Dscaml1
|
UTSW |
9 |
45,662,584 (GRCm39) |
critical splice donor site |
probably null |
|
R1834:Dscaml1
|
UTSW |
9 |
45,594,930 (GRCm39) |
missense |
probably benign |
0.00 |
R1907:Dscaml1
|
UTSW |
9 |
45,651,778 (GRCm39) |
missense |
probably damaging |
1.00 |
R1953:Dscaml1
|
UTSW |
9 |
45,581,522 (GRCm39) |
missense |
probably benign |
0.01 |
R2056:Dscaml1
|
UTSW |
9 |
45,661,430 (GRCm39) |
missense |
probably damaging |
0.99 |
R2193:Dscaml1
|
UTSW |
9 |
45,596,532 (GRCm39) |
missense |
probably benign |
0.21 |
R2497:Dscaml1
|
UTSW |
9 |
45,656,376 (GRCm39) |
missense |
probably benign |
0.00 |
R3768:Dscaml1
|
UTSW |
9 |
45,643,435 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3891:Dscaml1
|
UTSW |
9 |
45,628,782 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4110:Dscaml1
|
UTSW |
9 |
45,643,366 (GRCm39) |
missense |
probably benign |
0.07 |
R4706:Dscaml1
|
UTSW |
9 |
45,361,878 (GRCm39) |
missense |
probably damaging |
1.00 |
R4716:Dscaml1
|
UTSW |
9 |
45,361,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R4770:Dscaml1
|
UTSW |
9 |
45,581,404 (GRCm39) |
missense |
probably damaging |
1.00 |
R4924:Dscaml1
|
UTSW |
9 |
45,656,487 (GRCm39) |
missense |
probably damaging |
1.00 |
R5167:Dscaml1
|
UTSW |
9 |
45,628,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R5346:Dscaml1
|
UTSW |
9 |
45,361,857 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5737:Dscaml1
|
UTSW |
9 |
45,656,483 (GRCm39) |
missense |
probably damaging |
0.99 |
R5977:Dscaml1
|
UTSW |
9 |
45,632,596 (GRCm39) |
missense |
probably benign |
0.19 |
R6073:Dscaml1
|
UTSW |
9 |
45,361,881 (GRCm39) |
missense |
probably benign |
0.22 |
R6276:Dscaml1
|
UTSW |
9 |
45,579,458 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6415:Dscaml1
|
UTSW |
9 |
45,594,975 (GRCm39) |
nonsense |
probably null |
|
R6527:Dscaml1
|
UTSW |
9 |
45,623,482 (GRCm39) |
nonsense |
probably null |
|
R6582:Dscaml1
|
UTSW |
9 |
45,664,104 (GRCm39) |
missense |
probably benign |
0.00 |
R6655:Dscaml1
|
UTSW |
9 |
45,658,235 (GRCm39) |
missense |
probably benign |
0.00 |
R6772:Dscaml1
|
UTSW |
9 |
45,621,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6799:Dscaml1
|
UTSW |
9 |
45,361,881 (GRCm39) |
missense |
probably benign |
0.22 |
R6892:Dscaml1
|
UTSW |
9 |
45,595,128 (GRCm39) |
missense |
probably damaging |
0.99 |
R6918:Dscaml1
|
UTSW |
9 |
45,341,805 (GRCm39) |
missense |
probably benign |
|
R6967:Dscaml1
|
UTSW |
9 |
45,585,821 (GRCm39) |
missense |
probably damaging |
0.97 |
R7214:Dscaml1
|
UTSW |
9 |
45,581,437 (GRCm39) |
missense |
probably benign |
0.01 |
R7286:Dscaml1
|
UTSW |
9 |
45,654,044 (GRCm39) |
critical splice donor site |
probably null |
|
R7315:Dscaml1
|
UTSW |
9 |
45,656,423 (GRCm39) |
missense |
probably benign |
0.00 |
R7338:Dscaml1
|
UTSW |
9 |
45,585,802 (GRCm39) |
missense |
probably benign |
0.12 |
R7343:Dscaml1
|
UTSW |
9 |
45,664,214 (GRCm39) |
missense |
probably benign |
|
R7395:Dscaml1
|
UTSW |
9 |
45,613,703 (GRCm39) |
missense |
possibly damaging |
0.73 |
R7439:Dscaml1
|
UTSW |
9 |
45,621,624 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7484:Dscaml1
|
UTSW |
9 |
45,660,744 (GRCm39) |
splice site |
probably null |
|
R7545:Dscaml1
|
UTSW |
9 |
45,596,681 (GRCm39) |
missense |
probably benign |
0.11 |
R7979:Dscaml1
|
UTSW |
9 |
45,595,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R8005:Dscaml1
|
UTSW |
9 |
45,628,808 (GRCm39) |
missense |
probably damaging |
1.00 |
R8181:Dscaml1
|
UTSW |
9 |
45,658,140 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8262:Dscaml1
|
UTSW |
9 |
45,658,438 (GRCm39) |
intron |
probably benign |
|
R8428:Dscaml1
|
UTSW |
9 |
45,653,884 (GRCm39) |
missense |
probably benign |
0.00 |
R8725:Dscaml1
|
UTSW |
9 |
45,341,759 (GRCm39) |
missense |
probably benign |
0.00 |
R8727:Dscaml1
|
UTSW |
9 |
45,341,759 (GRCm39) |
missense |
probably benign |
0.00 |
R8796:Dscaml1
|
UTSW |
9 |
45,359,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R8840:Dscaml1
|
UTSW |
9 |
45,634,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R9291:Dscaml1
|
UTSW |
9 |
45,359,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R9394:Dscaml1
|
UTSW |
9 |
45,661,354 (GRCm39) |
missense |
possibly damaging |
0.64 |
R9610:Dscaml1
|
UTSW |
9 |
45,579,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9611:Dscaml1
|
UTSW |
9 |
45,579,522 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9653:Dscaml1
|
UTSW |
9 |
45,643,466 (GRCm39) |
critical splice donor site |
probably null |
|
R9699:Dscaml1
|
UTSW |
9 |
45,654,315 (GRCm39) |
missense |
probably damaging |
0.97 |
X0058:Dscaml1
|
UTSW |
9 |
45,663,426 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Dscaml1
|
UTSW |
9 |
45,584,089 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGACAGTGACAGCTCTTTGTC -3'
(R):5'- ATATTCAGCACTGCCCACCG -3'
Sequencing Primer
(F):5'- GACAGTGACAGCTCTTTGTCTTTATC -3'
(R):5'- AGCACTGCCCACCGAGTTC -3'
|
Posted On |
2015-10-21 |