Incidental Mutation 'R0629:Dscaml1'
ID |
57759 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dscaml1
|
Ensembl Gene |
ENSMUSG00000032087 |
Gene Name |
DS cell adhesion molecule like 1 |
Synonyms |
4921507G06Rik, 4930435C18Rik |
MMRRC Submission |
038818-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.674)
|
Stock # |
R0629 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45426628-45753712 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45721418 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 1194
(D1194G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034592]
|
AlphaFold |
Q4VA61 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034592
AA Change: D1194G
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000034592 Gene: ENSMUSG00000032087 AA Change: D1194G
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 |
unknown
Transcript: ENSMUST00000216685
AA Change: D223G
|
Meta Mutation Damage Score |
0.2014  |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
100% (66/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
A |
T |
17: 45,507,547 (GRCm38) |
D86V |
probably damaging |
Het |
Adamts14 |
G |
A |
10: 61,211,624 (GRCm38) |
Q733* |
probably null |
Het |
Adcy10 |
A |
G |
1: 165,543,105 (GRCm38) |
D651G |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 62,933,970 (GRCm38) |
C52S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,333,426 (GRCm38) |
S463P |
probably damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,516,278 (GRCm38) |
Y68C |
probably damaging |
Het |
Cacna1f |
G |
A |
X: 7,620,434 (GRCm38) |
S888N |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,409,543 (GRCm38) |
C2134R |
possibly damaging |
Het |
Cdc37 |
A |
C |
9: 21,140,768 (GRCm38) |
M325R |
possibly damaging |
Het |
Clca2 |
T |
A |
3: 145,072,239 (GRCm38) |
M762L |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,203,976 (GRCm38) |
V753M |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,727,165 (GRCm38) |
|
probably benign |
Het |
Egfr |
G |
A |
11: 16,869,333 (GRCm38) |
G288S |
probably damaging |
Het |
Fbxl17 |
G |
T |
17: 63,471,414 (GRCm38) |
N19K |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,958,227 (GRCm38) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,883,762 (GRCm38) |
Y219H |
probably damaging |
Het |
Fuca1 |
T |
C |
4: 135,925,644 (GRCm38) |
V193A |
possibly damaging |
Het |
Gm1141 |
G |
C |
X: 71,938,773 (GRCm38) |
R296P |
possibly damaging |
Het |
Gm7461 |
C |
T |
8: 4,677,769 (GRCm38) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,552,239 (GRCm38) |
N508K |
possibly damaging |
Het |
Iqch |
A |
T |
9: 63,425,382 (GRCm38) |
D1019E |
probably benign |
Het |
Isyna1 |
A |
G |
8: 70,594,708 (GRCm38) |
Y27C |
probably damaging |
Het |
Itgb8 |
T |
G |
12: 119,202,481 (GRCm38) |
H105P |
probably benign |
Het |
Kbtbd11 |
C |
T |
8: 15,027,572 (GRCm38) |
P57L |
probably benign |
Het |
Kcns3 |
A |
C |
12: 11,092,558 (GRCm38) |
C47G |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,172,157 (GRCm38) |
|
probably null |
Het |
Lama3 |
A |
T |
18: 12,419,245 (GRCm38) |
H418L |
possibly damaging |
Het |
Lrit3 |
A |
G |
3: 129,788,302 (GRCm38) |
Y679H |
probably damaging |
Het |
Lrrc19 |
T |
A |
4: 94,638,252 (GRCm38) |
D356V |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,135,807 (GRCm38) |
M997T |
probably benign |
Het |
Mroh9 |
T |
C |
1: 163,060,636 (GRCm38) |
H290R |
possibly damaging |
Het |
Mtcl1 |
A |
T |
17: 66,338,142 (GRCm38) |
S1886T |
possibly damaging |
Het |
Muc20 |
T |
C |
16: 32,793,421 (GRCm38) |
T529A |
possibly damaging |
Het |
Myo7a |
A |
C |
7: 98,085,466 (GRCm38) |
L607R |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,069,783 (GRCm38) |
F180I |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,811,485 (GRCm38) |
E89K |
unknown |
Het |
Nek2 |
A |
G |
1: 191,831,317 (GRCm38) |
N431S |
probably benign |
Het |
Olfr1086 |
T |
A |
2: 86,676,529 (GRCm38) |
H268L |
possibly damaging |
Het |
Olfr169 |
A |
T |
16: 19,565,980 (GRCm38) |
V301E |
possibly damaging |
Het |
Oprm1 |
A |
T |
10: 6,832,604 (GRCm38) |
|
probably null |
Het |
Oxsr1 |
A |
G |
9: 119,241,784 (GRCm38) |
|
probably benign |
Het |
Pdgfrb |
G |
A |
18: 61,078,648 (GRCm38) |
|
probably null |
Het |
Proser1 |
C |
A |
3: 53,479,064 (GRCm38) |
P789Q |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 150,101,037 (GRCm38) |
Q7R |
probably benign |
Het |
Rab3d |
A |
G |
9: 21,914,686 (GRCm38) |
V144A |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,439,547 (GRCm38) |
L167H |
probably damaging |
Het |
Ranbp3 |
A |
G |
17: 56,708,200 (GRCm38) |
T301A |
possibly damaging |
Het |
Rasgrf1 |
G |
A |
9: 89,984,269 (GRCm38) |
V587M |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,564,863 (GRCm38) |
|
probably benign |
Het |
Sin3b |
T |
C |
8: 72,753,536 (GRCm38) |
|
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,098,562 (GRCm38) |
S128G |
probably benign |
Het |
Tbl1xr1 |
G |
A |
3: 22,210,401 (GRCm38) |
V507I |
probably benign |
Het |
Tmem8b |
T |
G |
4: 43,669,896 (GRCm38) |
|
probably null |
Het |
Trak1 |
A |
T |
9: 121,367,167 (GRCm38) |
T22S |
probably benign |
Het |
Trim30d |
A |
G |
7: 104,487,655 (GRCm38) |
I114T |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 124,674,366 (GRCm38) |
S624T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,828,130 (GRCm38) |
|
probably benign |
Het |
Vipr1 |
T |
A |
9: 121,660,171 (GRCm38) |
Y99* |
probably null |
Het |
Vmn1r210 |
T |
C |
13: 22,827,874 (GRCm38) |
K81E |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,853,472 (GRCm38) |
Y841C |
probably benign |
Het |
Xrcc4 |
A |
G |
13: 90,000,905 (GRCm38) |
|
probably benign |
Het |
Zdhhc22 |
A |
T |
12: 86,988,297 (GRCm38) |
I127N |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,088,046 (GRCm38) |
L8P |
possibly damaging |
Het |
Zfp664 |
C |
A |
5: 124,885,595 (GRCm38) |
L18I |
probably damaging |
Het |
|
Other mutations in Dscaml1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00418:Dscaml1
|
APN |
9 |
45,670,200 (GRCm38) |
nonsense |
probably null |
|
IGL00497:Dscaml1
|
APN |
9 |
45,752,238 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00895:Dscaml1
|
APN |
9 |
45,751,253 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL01011:Dscaml1
|
APN |
9 |
45,683,672 (GRCm38) |
missense |
possibly damaging |
0.76 |
IGL01086:Dscaml1
|
APN |
9 |
45,702,662 (GRCm38) |
splice site |
probably benign |
|
IGL01125:Dscaml1
|
APN |
9 |
45,749,632 (GRCm38) |
critical splice acceptor site |
probably null |
|
IGL01132:Dscaml1
|
APN |
9 |
45,752,328 (GRCm38) |
nonsense |
probably null |
|
IGL01356:Dscaml1
|
APN |
9 |
45,746,857 (GRCm38) |
missense |
probably benign |
0.03 |
IGL01459:Dscaml1
|
APN |
9 |
45,742,683 (GRCm38) |
nonsense |
probably null |
|
IGL01552:Dscaml1
|
APN |
9 |
45,447,908 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02033:Dscaml1
|
APN |
9 |
45,683,782 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02044:Dscaml1
|
APN |
9 |
45,746,943 (GRCm38) |
nonsense |
probably null |
|
IGL02095:Dscaml1
|
APN |
9 |
45,447,703 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02166:Dscaml1
|
APN |
9 |
45,683,701 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL02262:Dscaml1
|
APN |
9 |
45,732,080 (GRCm38) |
missense |
probably benign |
0.44 |
IGL02262:Dscaml1
|
APN |
9 |
45,745,116 (GRCm38) |
missense |
probably benign |
|
IGL02340:Dscaml1
|
APN |
9 |
45,670,176 (GRCm38) |
missense |
possibly damaging |
0.66 |
IGL02604:Dscaml1
|
APN |
9 |
45,744,328 (GRCm38) |
unclassified |
probably benign |
|
IGL02619:Dscaml1
|
APN |
9 |
45,447,796 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02805:Dscaml1
|
APN |
9 |
45,447,897 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL03409:Dscaml1
|
APN |
9 |
45,670,103 (GRCm38) |
missense |
probably damaging |
1.00 |
D3080:Dscaml1
|
UTSW |
9 |
45,684,325 (GRCm38) |
missense |
probably benign |
0.44 |
IGL03050:Dscaml1
|
UTSW |
9 |
45,742,999 (GRCm38) |
missense |
probably damaging |
1.00 |
R0149:Dscaml1
|
UTSW |
9 |
45,742,680 (GRCm38) |
nonsense |
probably null |
|
R0582:Dscaml1
|
UTSW |
9 |
45,668,264 (GRCm38) |
missense |
possibly damaging |
0.77 |
R0632:Dscaml1
|
UTSW |
9 |
45,732,134 (GRCm38) |
missense |
probably benign |
0.06 |
R0815:Dscaml1
|
UTSW |
9 |
45,745,074 (GRCm38) |
missense |
probably benign |
0.00 |
R1162:Dscaml1
|
UTSW |
9 |
45,752,349 (GRCm38) |
splice site |
probably benign |
|
R1449:Dscaml1
|
UTSW |
9 |
45,742,223 (GRCm38) |
missense |
possibly damaging |
0.95 |
R1474:Dscaml1
|
UTSW |
9 |
45,685,221 (GRCm38) |
missense |
probably damaging |
1.00 |
R1481:Dscaml1
|
UTSW |
9 |
45,672,643 (GRCm38) |
missense |
probably benign |
0.01 |
R1533:Dscaml1
|
UTSW |
9 |
45,450,584 (GRCm38) |
missense |
probably damaging |
0.99 |
R1542:Dscaml1
|
UTSW |
9 |
45,749,440 (GRCm38) |
missense |
possibly damaging |
0.84 |
R1572:Dscaml1
|
UTSW |
9 |
45,721,333 (GRCm38) |
missense |
probably benign |
0.00 |
R1627:Dscaml1
|
UTSW |
9 |
45,753,147 (GRCm38) |
missense |
probably damaging |
1.00 |
R1634:Dscaml1
|
UTSW |
9 |
45,672,749 (GRCm38) |
missense |
probably damaging |
1.00 |
R1713:Dscaml1
|
UTSW |
9 |
45,752,690 (GRCm38) |
missense |
possibly damaging |
0.49 |
R1777:Dscaml1
|
UTSW |
9 |
45,683,756 (GRCm38) |
missense |
possibly damaging |
0.58 |
R1812:Dscaml1
|
UTSW |
9 |
45,751,286 (GRCm38) |
critical splice donor site |
probably null |
|
R1834:Dscaml1
|
UTSW |
9 |
45,683,632 (GRCm38) |
missense |
probably benign |
0.00 |
R1907:Dscaml1
|
UTSW |
9 |
45,740,480 (GRCm38) |
missense |
probably damaging |
1.00 |
R1953:Dscaml1
|
UTSW |
9 |
45,670,224 (GRCm38) |
missense |
probably benign |
0.01 |
R2056:Dscaml1
|
UTSW |
9 |
45,750,132 (GRCm38) |
missense |
probably damaging |
0.99 |
R2193:Dscaml1
|
UTSW |
9 |
45,685,234 (GRCm38) |
missense |
probably benign |
0.21 |
R2497:Dscaml1
|
UTSW |
9 |
45,745,078 (GRCm38) |
missense |
probably benign |
0.00 |
R3768:Dscaml1
|
UTSW |
9 |
45,732,137 (GRCm38) |
missense |
possibly damaging |
0.94 |
R3891:Dscaml1
|
UTSW |
9 |
45,717,484 (GRCm38) |
missense |
possibly damaging |
0.84 |
R4110:Dscaml1
|
UTSW |
9 |
45,732,068 (GRCm38) |
missense |
probably benign |
0.07 |
R4706:Dscaml1
|
UTSW |
9 |
45,450,580 (GRCm38) |
missense |
probably damaging |
1.00 |
R4716:Dscaml1
|
UTSW |
9 |
45,450,592 (GRCm38) |
missense |
probably damaging |
1.00 |
R4719:Dscaml1
|
UTSW |
9 |
45,672,695 (GRCm38) |
missense |
probably benign |
0.13 |
R4770:Dscaml1
|
UTSW |
9 |
45,670,106 (GRCm38) |
missense |
probably damaging |
1.00 |
R4924:Dscaml1
|
UTSW |
9 |
45,745,189 (GRCm38) |
missense |
probably damaging |
1.00 |
R5167:Dscaml1
|
UTSW |
9 |
45,717,432 (GRCm38) |
missense |
probably damaging |
1.00 |
R5346:Dscaml1
|
UTSW |
9 |
45,450,559 (GRCm38) |
missense |
possibly damaging |
0.63 |
R5737:Dscaml1
|
UTSW |
9 |
45,745,185 (GRCm38) |
missense |
probably damaging |
0.99 |
R5977:Dscaml1
|
UTSW |
9 |
45,721,298 (GRCm38) |
missense |
probably benign |
0.19 |
R6073:Dscaml1
|
UTSW |
9 |
45,450,583 (GRCm38) |
missense |
probably benign |
0.22 |
R6276:Dscaml1
|
UTSW |
9 |
45,668,160 (GRCm38) |
missense |
possibly damaging |
0.62 |
R6415:Dscaml1
|
UTSW |
9 |
45,683,677 (GRCm38) |
nonsense |
probably null |
|
R6527:Dscaml1
|
UTSW |
9 |
45,712,184 (GRCm38) |
nonsense |
probably null |
|
R6582:Dscaml1
|
UTSW |
9 |
45,752,806 (GRCm38) |
missense |
probably benign |
0.00 |
R6655:Dscaml1
|
UTSW |
9 |
45,746,937 (GRCm38) |
missense |
probably benign |
0.00 |
R6772:Dscaml1
|
UTSW |
9 |
45,710,311 (GRCm38) |
missense |
probably damaging |
1.00 |
R6799:Dscaml1
|
UTSW |
9 |
45,450,583 (GRCm38) |
missense |
probably benign |
0.22 |
R6892:Dscaml1
|
UTSW |
9 |
45,683,830 (GRCm38) |
missense |
probably damaging |
0.99 |
R6918:Dscaml1
|
UTSW |
9 |
45,430,507 (GRCm38) |
missense |
probably benign |
|
R6967:Dscaml1
|
UTSW |
9 |
45,674,523 (GRCm38) |
missense |
probably damaging |
0.97 |
R7214:Dscaml1
|
UTSW |
9 |
45,670,139 (GRCm38) |
missense |
probably benign |
0.01 |
R7286:Dscaml1
|
UTSW |
9 |
45,742,746 (GRCm38) |
critical splice donor site |
probably null |
|
R7315:Dscaml1
|
UTSW |
9 |
45,745,125 (GRCm38) |
missense |
probably benign |
0.00 |
R7338:Dscaml1
|
UTSW |
9 |
45,674,504 (GRCm38) |
missense |
probably benign |
0.12 |
R7343:Dscaml1
|
UTSW |
9 |
45,752,916 (GRCm38) |
missense |
probably benign |
|
R7395:Dscaml1
|
UTSW |
9 |
45,702,405 (GRCm38) |
missense |
possibly damaging |
0.73 |
R7439:Dscaml1
|
UTSW |
9 |
45,710,326 (GRCm38) |
missense |
possibly damaging |
0.94 |
R7484:Dscaml1
|
UTSW |
9 |
45,749,446 (GRCm38) |
splice site |
probably null |
|
R7545:Dscaml1
|
UTSW |
9 |
45,685,383 (GRCm38) |
missense |
probably benign |
0.11 |
R7979:Dscaml1
|
UTSW |
9 |
45,683,731 (GRCm38) |
missense |
probably damaging |
1.00 |
R8005:Dscaml1
|
UTSW |
9 |
45,717,510 (GRCm38) |
missense |
probably damaging |
1.00 |
R8181:Dscaml1
|
UTSW |
9 |
45,746,842 (GRCm38) |
missense |
possibly damaging |
0.86 |
R8262:Dscaml1
|
UTSW |
9 |
45,747,140 (GRCm38) |
intron |
probably benign |
|
R8428:Dscaml1
|
UTSW |
9 |
45,742,586 (GRCm38) |
missense |
probably benign |
0.00 |
R8725:Dscaml1
|
UTSW |
9 |
45,430,461 (GRCm38) |
missense |
probably benign |
0.00 |
R8727:Dscaml1
|
UTSW |
9 |
45,430,461 (GRCm38) |
missense |
probably benign |
0.00 |
R8796:Dscaml1
|
UTSW |
9 |
45,447,728 (GRCm38) |
missense |
probably damaging |
0.99 |
R8840:Dscaml1
|
UTSW |
9 |
45,723,420 (GRCm38) |
missense |
probably damaging |
0.99 |
R9291:Dscaml1
|
UTSW |
9 |
45,447,953 (GRCm38) |
missense |
probably damaging |
1.00 |
R9394:Dscaml1
|
UTSW |
9 |
45,750,056 (GRCm38) |
missense |
possibly damaging |
0.64 |
R9610:Dscaml1
|
UTSW |
9 |
45,668,224 (GRCm38) |
missense |
possibly damaging |
0.95 |
R9611:Dscaml1
|
UTSW |
9 |
45,668,224 (GRCm38) |
missense |
possibly damaging |
0.95 |
R9653:Dscaml1
|
UTSW |
9 |
45,732,168 (GRCm38) |
critical splice donor site |
probably null |
|
R9699:Dscaml1
|
UTSW |
9 |
45,743,017 (GRCm38) |
missense |
probably damaging |
0.97 |
X0058:Dscaml1
|
UTSW |
9 |
45,752,128 (GRCm38) |
missense |
probably benign |
0.00 |
Z1177:Dscaml1
|
UTSW |
9 |
45,672,791 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- GGCTGTCTCTCATACCCTAACTGACTG -3'
(R):5'- GTGCAAATGGACCCCGATCTACAC -3'
Sequencing Primer
(F):5'- ATACCCTAACTGACTGTTGATTTCC -3'
(R):5'- atctgcctgcctctgcc -3'
|
Posted On |
2013-07-11 |