Incidental Mutation 'R9291:Dscaml1'
ID |
704287 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dscaml1
|
Ensembl Gene |
ENSMUSG00000032087 |
Gene Name |
DS cell adhesion molecule like 1 |
Synonyms |
4921507G06Rik, 4930435C18Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.416)
|
Stock # |
R9291 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
45338735-45665011 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45359251 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 170
(I170T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034592
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034592]
[ENSMUST00000213919]
[ENSMUST00000217538]
|
AlphaFold |
Q4VA61 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034592
AA Change: I170T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034592 Gene: ENSMUSG00000032087 AA Change: I170T
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 |
possibly damaging
Transcript: ENSMUST00000213919
AA Change: S44P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000217538
AA Change: S44P
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
|
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 |
1110002E22Rik |
A |
G |
3: 137,772,464 (GRCm39) |
N551S |
probably benign |
Het |
Abcg5 |
C |
A |
17: 84,976,380 (GRCm39) |
V486L |
probably benign |
Het |
Acoxl |
T |
A |
2: 127,814,493 (GRCm39) |
I303N |
probably damaging |
Het |
Atp6v1h |
G |
T |
1: 5,220,284 (GRCm39) |
W464L |
probably null |
Het |
Cdcp2 |
A |
G |
4: 106,964,053 (GRCm39) |
D301G |
probably damaging |
Het |
Cenpv |
T |
C |
11: 62,429,688 (GRCm39) |
D115G |
probably benign |
Het |
Cnfn |
T |
C |
7: 25,067,476 (GRCm39) |
D67G |
possibly damaging |
Het |
Col27a1 |
A |
C |
4: 63,142,539 (GRCm39) |
I76L |
probably damaging |
Het |
Crb2 |
G |
A |
2: 37,682,213 (GRCm39) |
V865I |
probably damaging |
Het |
Ctf1 |
T |
A |
7: 127,316,204 (GRCm39) |
L58Q |
probably damaging |
Het |
Dennd6b |
C |
T |
15: 89,071,590 (GRCm39) |
V276M |
possibly damaging |
Het |
Dis3l2 |
A |
G |
1: 86,901,215 (GRCm39) |
T483A |
possibly damaging |
Het |
Dlg5 |
T |
C |
14: 24,241,229 (GRCm39) |
T223A |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,944,099 (GRCm39) |
I1772T |
probably damaging |
Het |
Ehd4 |
G |
T |
2: 119,921,755 (GRCm39) |
D500E |
probably damaging |
Het |
Elac2 |
T |
C |
11: 64,883,142 (GRCm39) |
I388T |
probably damaging |
Het |
Entpd6 |
G |
A |
2: 150,608,959 (GRCm39) |
V348M |
probably benign |
Het |
Epg5 |
T |
A |
18: 78,056,065 (GRCm39) |
C1746* |
probably null |
Het |
Exosc2 |
G |
T |
2: 31,560,871 (GRCm39) |
M40I |
probably benign |
Het |
Fam193a |
T |
C |
5: 34,593,835 (GRCm39) |
Y27H |
probably damaging |
Het |
Gm8005 |
A |
G |
14: 42,258,885 (GRCm39) |
F148L |
|
Het |
Hectd4 |
T |
C |
5: 121,487,028 (GRCm39) |
V3341A |
probably benign |
Het |
Hecw1 |
A |
G |
13: 14,491,522 (GRCm39) |
V77A |
probably benign |
Het |
Irf2bp1 |
T |
A |
7: 18,738,458 (GRCm39) |
C33S |
probably damaging |
Het |
Kank4 |
A |
T |
4: 98,666,688 (GRCm39) |
H586Q |
probably benign |
Het |
Kcnu1 |
A |
G |
8: 26,390,041 (GRCm39) |
N619S |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,475,140 (GRCm39) |
E13G |
possibly damaging |
Het |
Lrp2 |
A |
T |
2: 69,310,379 (GRCm39) |
D2731E |
probably damaging |
Het |
Lyst |
A |
G |
13: 13,883,938 (GRCm39) |
N2942S |
probably benign |
Het |
Maml3 |
G |
A |
3: 51,764,328 (GRCm39) |
T212M |
probably benign |
Het |
Mill2 |
T |
C |
7: 18,575,416 (GRCm39) |
V41A |
probably benign |
Het |
Moxd2 |
C |
A |
6: 40,857,362 (GRCm39) |
C466F |
probably damaging |
Het |
Nefh |
A |
G |
11: 4,890,871 (GRCm39) |
S583P |
probably benign |
Het |
Nlrp9b |
T |
A |
7: 19,758,511 (GRCm39) |
S583T |
possibly damaging |
Het |
Nup214 |
T |
G |
2: 31,867,806 (GRCm39) |
M91R |
probably benign |
Het |
Or4c121 |
A |
C |
2: 89,024,138 (GRCm39) |
M80R |
possibly damaging |
Het |
Or6c206 |
T |
C |
10: 129,097,202 (GRCm39) |
I124T |
probably damaging |
Het |
Or8k53 |
A |
T |
2: 86,177,768 (GRCm39) |
I114N |
probably benign |
Het |
Otud4 |
A |
G |
8: 80,372,952 (GRCm39) |
Y90C |
probably damaging |
Het |
Papln |
C |
A |
12: 83,825,284 (GRCm39) |
T575N |
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,433,372 (GRCm39) |
N3417K |
probably damaging |
Het |
Pop7 |
A |
G |
5: 137,499,911 (GRCm39) |
*141Q |
probably null |
Het |
Pramel26 |
A |
T |
4: 143,539,251 (GRCm39) |
Y81N |
probably benign |
Het |
Rchy1 |
A |
G |
5: 92,099,765 (GRCm39) |
L191S |
possibly damaging |
Het |
Rims1 |
T |
C |
1: 22,467,746 (GRCm39) |
D296G |
|
Het |
Sftpb |
T |
A |
6: 72,286,880 (GRCm39) |
C261* |
probably null |
Het |
Sgcd |
C |
T |
11: 46,870,166 (GRCm39) |
C265Y |
probably damaging |
Het |
Slc44a5 |
G |
A |
3: 153,962,218 (GRCm39) |
V384M |
possibly damaging |
Het |
Slx4ip |
T |
A |
2: 136,888,716 (GRCm39) |
N132K |
probably benign |
Het |
Sspo |
C |
T |
6: 48,473,330 (GRCm39) |
T4861M |
probably damaging |
Het |
Swt1 |
T |
A |
1: 151,286,694 (GRCm39) |
E266V |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,987,750 (GRCm39) |
D903G |
probably damaging |
Het |
Tbx18 |
A |
T |
9: 87,611,535 (GRCm39) |
M165K |
probably damaging |
Het |
Tmem25 |
T |
C |
9: 44,706,799 (GRCm39) |
N282S |
probably damaging |
Het |
Tom1l2 |
T |
C |
11: 60,153,556 (GRCm39) |
I140M |
probably benign |
Het |
Trak2 |
A |
G |
1: 58,943,058 (GRCm39) |
S783P |
probably damaging |
Het |
Trpv4 |
G |
A |
5: 114,768,068 (GRCm39) |
T534M |
probably benign |
Het |
Ttc6 |
G |
T |
12: 57,622,730 (GRCm39) |
R43M |
probably damaging |
Het |
Vmn1r194 |
A |
G |
13: 22,428,875 (GRCm39) |
Y164C |
probably benign |
Het |
Vmn1r228 |
T |
C |
17: 20,997,023 (GRCm39) |
Y165C |
probably benign |
Het |
Vps13b |
C |
A |
15: 35,847,059 (GRCm39) |
T2614K |
probably damaging |
Het |
Zdhhc14 |
T |
C |
17: 5,698,237 (GRCm39) |
F102S |
probably benign |
Het |
Zyg11b |
A |
G |
4: 108,108,014 (GRCm39) |
M464T |
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 |
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 |
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'- GACCTTCTCCAGTTCTGTGG -3'
(R):5'- GCCAAGCTGTTCCCAAGTATATG -3'
Sequencing Primer
(F):5'- CCTTCTCCAGTTCTGTGGGTGTG -3'
(R):5'- AAGCTGTTCCCAAGTATATGTTTCC -3'
|
Posted On |
2022-03-25 |