Incidental Mutation 'R1481:Dscaml1'
ID |
164378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dscaml1
|
Ensembl Gene |
ENSMUSG00000032087 |
Gene Name |
DS cell adhesion molecule like 1 |
Synonyms |
4921507G06Rik, 4930435C18Rik |
MMRRC Submission |
039534-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.416)
|
Stock # |
R1481 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45338735-45665011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 45583941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 469
(V469I)
|
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: V469I
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000034592 Gene: ENSMUSG00000032087 AA Change: V469I
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 |
0.0584 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.6%
|
Validation Efficiency |
100% (71/71) |
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 |
Arhgef5 |
A |
G |
6: 43,251,568 (GRCm39) |
H773R |
probably damaging |
Het |
Bltp1 |
T |
C |
3: 37,062,583 (GRCm39) |
V3365A |
probably damaging |
Het |
Bmp3 |
G |
A |
5: 99,020,329 (GRCm39) |
V251M |
probably damaging |
Het |
Ccdc175 |
C |
A |
12: 72,148,722 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
C |
T |
18: 22,238,678 (GRCm39) |
G313D |
probably benign |
Het |
Cd300ld2 |
T |
A |
11: 114,903,459 (GRCm39) |
I129F |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,609,951 (GRCm39) |
Q120R |
possibly damaging |
Het |
Ckb |
T |
C |
12: 111,637,696 (GRCm39) |
H145R |
probably benign |
Het |
Cntnap5a |
T |
A |
1: 116,045,393 (GRCm39) |
N336K |
probably damaging |
Het |
Coil |
T |
A |
11: 88,864,886 (GRCm39) |
C38S |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,183,041 (GRCm39) |
V133A |
probably damaging |
Het |
Cspg4 |
A |
G |
9: 56,795,094 (GRCm39) |
E943G |
probably damaging |
Het |
Cyp2c54 |
C |
T |
19: 40,036,032 (GRCm39) |
D293N |
probably benign |
Het |
Cyp2f2 |
T |
C |
7: 26,821,302 (GRCm39) |
S72P |
probably benign |
Het |
Dip2c |
G |
A |
13: 9,601,902 (GRCm39) |
|
probably null |
Het |
Dock6 |
T |
C |
9: 21,731,918 (GRCm39) |
T1158A |
probably benign |
Het |
Efcab14 |
A |
G |
4: 115,613,714 (GRCm39) |
T221A |
probably benign |
Het |
Ehbp1 |
T |
C |
11: 21,956,782 (GRCm39) |
*1207W |
probably null |
Het |
Eln |
T |
C |
5: 134,735,426 (GRCm39) |
K786E |
probably damaging |
Het |
Fyb1 |
C |
T |
15: 6,649,128 (GRCm39) |
P385S |
probably benign |
Het |
Galr1 |
A |
G |
18: 82,423,866 (GRCm39) |
I137T |
possibly damaging |
Het |
Gcm1 |
A |
T |
9: 77,966,999 (GRCm39) |
K73* |
probably null |
Het |
Gemin5 |
T |
C |
11: 58,032,480 (GRCm39) |
N775D |
probably damaging |
Het |
Gli3 |
C |
T |
13: 15,788,435 (GRCm39) |
H147Y |
probably damaging |
Het |
Gm10754 |
G |
T |
10: 97,518,089 (GRCm39) |
|
probably benign |
Het |
Gpr37 |
T |
C |
6: 25,669,137 (GRCm39) |
D569G |
probably damaging |
Het |
Grina |
T |
A |
15: 76,133,289 (GRCm39) |
Y286N |
probably damaging |
Het |
Gtf3c1 |
C |
A |
7: 125,292,310 (GRCm39) |
|
probably null |
Het |
Kcnc4 |
C |
T |
3: 107,355,534 (GRCm39) |
V305M |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,916,338 (GRCm39) |
F724L |
probably benign |
Het |
Kpnb1 |
T |
C |
11: 97,069,136 (GRCm39) |
Y249C |
probably damaging |
Het |
Krt6b |
T |
C |
15: 101,586,809 (GRCm39) |
T269A |
probably benign |
Het |
Lamc1 |
T |
C |
1: 153,097,380 (GRCm39) |
K1555E |
probably damaging |
Het |
Maneal |
T |
C |
4: 124,755,650 (GRCm39) |
Y104C |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,567,679 (GRCm39) |
T1681A |
unknown |
Het |
Mettl17 |
T |
C |
14: 52,128,160 (GRCm39) |
L272P |
probably benign |
Het |
Mib2 |
T |
A |
4: 155,741,456 (GRCm39) |
S357C |
probably benign |
Het |
Mmp19 |
C |
A |
10: 128,634,047 (GRCm39) |
T316K |
possibly damaging |
Het |
Mroh9 |
C |
T |
1: 162,854,078 (GRCm39) |
G774E |
probably damaging |
Het |
Myh1 |
T |
C |
11: 67,096,325 (GRCm39) |
|
probably benign |
Het |
Ncor2 |
C |
A |
5: 125,104,202 (GRCm39) |
E963* |
probably null |
Het |
Nol6 |
T |
A |
4: 41,123,596 (GRCm39) |
T51S |
probably benign |
Het |
Nsun3 |
A |
T |
16: 62,555,732 (GRCm39) |
C265S |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Nutm2 |
T |
A |
13: 50,623,517 (GRCm39) |
N71K |
probably damaging |
Het |
Or10a5 |
T |
G |
7: 106,635,356 (GRCm39) |
L5R |
probably benign |
Het |
Or5p73 |
C |
T |
7: 108,065,167 (GRCm39) |
T212I |
probably benign |
Het |
Orc3 |
T |
A |
4: 34,607,228 (GRCm39) |
E34V |
possibly damaging |
Het |
Pcdhb13 |
T |
A |
18: 37,575,889 (GRCm39) |
L89Q |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,502,616 (GRCm39) |
V1241E |
probably null |
Het |
Prpf39 |
C |
T |
12: 65,100,088 (GRCm39) |
P135S |
probably damaging |
Het |
Psrc1 |
T |
C |
3: 108,292,309 (GRCm39) |
V34A |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,989,684 (GRCm39) |
V52M |
probably benign |
Het |
Rassf9 |
A |
G |
10: 102,381,895 (GRCm39) |
T424A |
probably benign |
Het |
Ripor3 |
G |
T |
2: 167,842,297 (GRCm39) |
R61S |
possibly damaging |
Het |
Ryr3 |
C |
T |
2: 112,466,867 (GRCm39) |
|
probably benign |
Het |
Samd4b |
C |
T |
7: 28,113,435 (GRCm39) |
G177R |
probably damaging |
Het |
Setbp1 |
C |
T |
18: 78,826,516 (GRCm39) |
V1366M |
probably benign |
Het |
Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
Tctn2 |
T |
C |
5: 124,745,826 (GRCm39) |
|
noncoding transcript |
Het |
Tmem45a |
A |
T |
16: 56,631,965 (GRCm39) |
F218I |
possibly damaging |
Het |
Tpte |
A |
T |
8: 22,845,487 (GRCm39) |
R512S |
probably damaging |
Het |
Trim37 |
T |
A |
11: 87,020,585 (GRCm39) |
L22* |
probably null |
Het |
Ttc6 |
A |
G |
12: 57,783,916 (GRCm39) |
N1792D |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,775,960 (GRCm39) |
M1694T |
probably damaging |
Het |
Vmn1r181 |
T |
A |
7: 23,684,137 (GRCm39) |
W201R |
probably damaging |
Het |
Wdr74 |
C |
T |
19: 8,715,592 (GRCm39) |
L198F |
possibly damaging |
Het |
Zfp560 |
T |
C |
9: 20,260,086 (GRCm39) |
T259A |
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 |
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 |
R4719:Dscaml1
|
UTSW |
9 |
45,583,993 (GRCm39) |
missense |
probably benign |
0.13 |
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'- ATGCCTTCTGAGCCTTGCAGTC -3'
(R):5'- TGATATTCAGCACTGCCCACCG -3'
Sequencing Primer
(F):5'- caaaagaccaccccccac -3'
(R):5'- CCGTGACGTTCATGTGGC -3'
|
Posted On |
2014-03-28 |