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 non essential
(E-score: 0.416)
|
Stock # |
R0629 (G1)
|
Quality Score |
210 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
45338735-45665011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 45632716 bp (GRCm39)
|
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: 45,818,473 (GRCm39) |
D86V |
probably damaging |
Het |
Adamts14 |
G |
A |
10: 61,047,403 (GRCm39) |
Q733* |
probably null |
Het |
Adcy10 |
A |
G |
1: 165,370,674 (GRCm39) |
D651G |
probably damaging |
Het |
Apcdd1 |
T |
A |
18: 63,067,041 (GRCm39) |
C52S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,209,172 (GRCm39) |
S463P |
probably damaging |
Het |
Cabcoco1 |
T |
C |
10: 68,352,108 (GRCm39) |
Y68C |
probably damaging |
Het |
Cacna1f |
G |
A |
X: 7,486,673 (GRCm39) |
S888N |
probably damaging |
Het |
Cacna1g |
A |
G |
11: 94,300,369 (GRCm39) |
C2134R |
possibly damaging |
Het |
Cdc37 |
A |
C |
9: 21,052,064 (GRCm39) |
M325R |
possibly damaging |
Het |
Clca3a2 |
T |
A |
3: 144,778,000 (GRCm39) |
M762L |
probably benign |
Het |
Cntn3 |
C |
T |
6: 102,180,937 (GRCm39) |
V753M |
probably damaging |
Het |
Col6a6 |
A |
T |
9: 105,604,364 (GRCm39) |
|
probably benign |
Het |
Egfr |
G |
A |
11: 16,819,333 (GRCm39) |
G288S |
probably damaging |
Het |
Fbxl17 |
G |
T |
17: 63,778,409 (GRCm39) |
N19K |
probably damaging |
Het |
Fmo3 |
A |
G |
1: 162,785,796 (GRCm39) |
|
probably benign |
Het |
Frmd6 |
T |
C |
12: 70,930,536 (GRCm39) |
Y219H |
probably damaging |
Het |
Fuca1 |
T |
C |
4: 135,652,955 (GRCm39) |
V193A |
possibly damaging |
Het |
Gm7461 |
C |
T |
8: 4,727,769 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,789,651 (GRCm39) |
N508K |
possibly damaging |
Het |
Iqch |
A |
T |
9: 63,332,664 (GRCm39) |
D1019E |
probably benign |
Het |
Isyna1 |
A |
G |
8: 71,047,358 (GRCm39) |
Y27C |
probably damaging |
Het |
Itgb8 |
T |
G |
12: 119,166,216 (GRCm39) |
H105P |
probably benign |
Het |
Kbtbd11 |
C |
T |
8: 15,077,572 (GRCm39) |
P57L |
probably benign |
Het |
Kcns3 |
A |
C |
12: 11,142,559 (GRCm39) |
C47G |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,099,895 (GRCm39) |
|
probably null |
Het |
Lama3 |
A |
T |
18: 12,552,302 (GRCm39) |
H418L |
possibly damaging |
Het |
Lrit3 |
A |
G |
3: 129,581,951 (GRCm39) |
Y679H |
probably damaging |
Het |
Lrrc19 |
T |
A |
4: 94,526,489 (GRCm39) |
D356V |
probably damaging |
Het |
Morc2b |
A |
G |
17: 33,354,781 (GRCm39) |
M997T |
probably benign |
Het |
Mroh9 |
T |
C |
1: 162,888,205 (GRCm39) |
H290R |
possibly damaging |
Het |
Mtcl1 |
A |
T |
17: 66,645,137 (GRCm39) |
S1886T |
possibly damaging |
Het |
Muc20 |
T |
C |
16: 32,613,791 (GRCm39) |
T529A |
possibly damaging |
Het |
Myo7a |
A |
C |
7: 97,734,673 (GRCm39) |
L607R |
probably damaging |
Het |
Myom2 |
T |
A |
8: 15,119,783 (GRCm39) |
F180I |
probably damaging |
Het |
Myt1l |
G |
A |
12: 29,861,484 (GRCm39) |
E89K |
unknown |
Het |
Nek2 |
A |
G |
1: 191,563,429 (GRCm39) |
N431S |
probably benign |
Het |
Oprm1 |
A |
T |
10: 6,782,604 (GRCm39) |
|
probably null |
Het |
Or2aj4 |
A |
T |
16: 19,384,730 (GRCm39) |
V301E |
possibly damaging |
Het |
Or5t7 |
T |
A |
2: 86,506,873 (GRCm39) |
H268L |
possibly damaging |
Het |
Oxsr1 |
A |
G |
9: 119,070,850 (GRCm39) |
|
probably benign |
Het |
Pasd1 |
G |
C |
X: 70,982,379 (GRCm39) |
R296P |
possibly damaging |
Het |
Pdgfrb |
G |
A |
18: 61,211,720 (GRCm39) |
|
probably null |
Het |
Proser1 |
C |
A |
3: 53,386,485 (GRCm39) |
P789Q |
probably benign |
Het |
Ptgs2 |
A |
G |
1: 149,976,788 (GRCm39) |
Q7R |
probably benign |
Het |
Rab3d |
A |
G |
9: 21,825,982 (GRCm39) |
V144A |
probably benign |
Het |
Ralgapb |
T |
A |
2: 158,281,467 (GRCm39) |
L167H |
probably damaging |
Het |
Ranbp3 |
A |
G |
17: 57,015,200 (GRCm39) |
T301A |
possibly damaging |
Het |
Rasgrf1 |
G |
A |
9: 89,866,322 (GRCm39) |
V587M |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,392,433 (GRCm39) |
|
probably benign |
Het |
Sin3b |
T |
C |
8: 73,480,164 (GRCm39) |
|
probably benign |
Het |
Slc10a2 |
T |
C |
8: 5,148,562 (GRCm39) |
S128G |
probably benign |
Het |
Tbl1xr1 |
G |
A |
3: 22,264,565 (GRCm39) |
V507I |
probably benign |
Het |
Tmem8b |
T |
G |
4: 43,669,896 (GRCm39) |
|
probably null |
Het |
Trak1 |
A |
T |
9: 121,196,233 (GRCm39) |
T22S |
probably benign |
Het |
Trim30d |
A |
G |
7: 104,136,862 (GRCm39) |
I114T |
probably damaging |
Het |
Ttc13 |
A |
T |
8: 125,401,105 (GRCm39) |
S624T |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,658,474 (GRCm39) |
|
probably benign |
Het |
Vipr1 |
T |
A |
9: 121,489,237 (GRCm39) |
Y99* |
probably null |
Het |
Vmn1r210 |
T |
C |
13: 23,012,044 (GRCm39) |
K81E |
probably damaging |
Het |
Wwc1 |
T |
C |
11: 35,744,299 (GRCm39) |
Y841C |
probably benign |
Het |
Xrcc4 |
A |
G |
13: 90,149,024 (GRCm39) |
|
probably benign |
Het |
Zdhhc22 |
A |
T |
12: 87,035,071 (GRCm39) |
I127N |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,814,785 (GRCm39) |
L8P |
possibly damaging |
Het |
Zfp664 |
C |
A |
5: 124,962,659 (GRCm39) |
L18I |
probably damaging |
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 |
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 |
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'- GGCTGTCTCTCATACCCTAACTGACTG -3'
(R):5'- GTGCAAATGGACCCCGATCTACAC -3'
Sequencing Primer
(F):5'- ATACCCTAACTGACTGTTGATTTCC -3'
(R):5'- atctgcctgcctctgcc -3'
|
Posted On |
2013-07-11 |