Incidental Mutation 'IGL03110:Spidr'
| ID |
419160 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spidr
|
| Ensembl Gene |
ENSMUSG00000041974 |
| Gene Name |
scaffolding protein involved in DNA repair |
| Synonyms |
2310008H04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03110
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
15707088-15964715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15707618 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 893
(E893G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
[ENSMUST00000096232]
|
| AlphaFold |
Q8BGX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040248
AA Change: E893G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: E893G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4502
|
11 |
390 |
1.8e-177 |
PFAM |
|
low complexity region
|
499 |
508 |
N/A |
INTRINSIC |
|
Pfam:DUF4503
|
540 |
921 |
2.2e-179 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096232
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210772
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229846
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,333,295 (GRCm39) |
E473G |
probably damaging |
Het |
| Acp7 |
T |
C |
7: 28,310,464 (GRCm39) |
M458V |
probably benign |
Het |
| Acrbp |
G |
T |
6: 125,039,436 (GRCm39) |
C485F |
probably damaging |
Het |
| Actn2 |
T |
C |
13: 12,324,493 (GRCm39) |
I117V |
probably benign |
Het |
| Ahr |
T |
C |
12: 35,554,970 (GRCm39) |
E383G |
probably damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,213,698 (GRCm39) |
H39L |
probably benign |
Het |
| Cdh11 |
G |
T |
8: 103,400,502 (GRCm39) |
N155K |
probably damaging |
Het |
| Cldnd1 |
T |
A |
16: 58,549,959 (GRCm39) |
N47K |
possibly damaging |
Het |
| Ddb1 |
C |
T |
19: 10,590,309 (GRCm39) |
R279W |
probably damaging |
Het |
| Dido1 |
A |
T |
2: 180,331,135 (GRCm39) |
D104E |
probably damaging |
Het |
| Dnah1 |
A |
T |
14: 30,988,674 (GRCm39) |
S3386T |
probably benign |
Het |
| Galnt18 |
T |
A |
7: 111,147,920 (GRCm39) |
E352V |
probably benign |
Het |
| Gm5407 |
T |
A |
16: 49,117,757 (GRCm39) |
|
noncoding transcript |
Het |
| Gucy1b2 |
T |
C |
14: 62,671,283 (GRCm39) |
|
probably benign |
Het |
| Guf1 |
C |
A |
5: 69,715,820 (GRCm39) |
L87I |
probably damaging |
Het |
| Hikeshi |
A |
G |
7: 89,585,034 (GRCm39) |
S57P |
probably damaging |
Het |
| Igkv17-121 |
T |
A |
6: 68,013,851 (GRCm39) |
V17D |
probably damaging |
Het |
| Itgad |
T |
C |
7: 127,785,157 (GRCm39) |
V324A |
probably damaging |
Het |
| Lama1 |
T |
A |
17: 68,105,981 (GRCm39) |
L2072Q |
probably benign |
Het |
| Lrrc31 |
T |
C |
3: 30,733,415 (GRCm39) |
E433G |
probably benign |
Het |
| Mrc1 |
T |
A |
2: 14,298,289 (GRCm39) |
L715* |
probably null |
Het |
| Nbeal2 |
T |
G |
9: 110,460,501 (GRCm39) |
K1778Q |
probably damaging |
Het |
| Or4c35 |
A |
T |
2: 89,808,493 (GRCm39) |
I124F |
probably damaging |
Het |
| Or51a39 |
C |
A |
7: 102,363,090 (GRCm39) |
G177C |
probably damaging |
Het |
| Or5m3 |
T |
A |
2: 85,838,942 (GRCm39) |
V274E |
probably damaging |
Het |
| Ppp1r3a |
T |
A |
6: 14,722,064 (GRCm39) |
|
probably benign |
Het |
| Prss37 |
T |
C |
6: 40,495,984 (GRCm39) |
Y6C |
probably benign |
Het |
| Rapgef6 |
A |
G |
11: 54,586,915 (GRCm39) |
Q1602R |
probably damaging |
Het |
| Rbm15b |
T |
C |
9: 106,763,173 (GRCm39) |
T332A |
probably damaging |
Het |
| S100a7l2 |
C |
T |
3: 90,995,626 (GRCm39) |
R92H |
unknown |
Het |
| Snrnp70 |
C |
A |
7: 45,026,283 (GRCm39) |
|
probably benign |
Het |
| Stxbp2 |
T |
C |
8: 3,683,342 (GRCm39) |
I74T |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,973,410 (GRCm39) |
Q234* |
probably null |
Het |
| Thbd |
T |
C |
2: 148,248,716 (GRCm39) |
D384G |
probably benign |
Het |
| Zan |
T |
C |
5: 137,418,278 (GRCm39) |
N2940S |
unknown |
Het |
| Zmat3 |
T |
A |
3: 32,399,701 (GRCm39) |
N100I |
probably damaging |
Het |
|
| Other mutations in Spidr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Spidr
|
APN |
16 |
15,713,442 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00482:Spidr
|
APN |
16 |
15,932,833 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL01760:Spidr
|
APN |
16 |
15,730,424 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02142:Spidr
|
APN |
16 |
15,865,945 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02392:Spidr
|
APN |
16 |
15,707,494 (GRCm39) |
makesense |
probably null |
|
|
IGL02430:Spidr
|
APN |
16 |
15,932,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Spidr
|
UTSW |
16 |
15,784,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0504:Spidr
|
UTSW |
16 |
15,957,936 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0505:Spidr
|
UTSW |
16 |
15,855,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0541:Spidr
|
UTSW |
16 |
15,733,229 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0675:Spidr
|
UTSW |
16 |
15,855,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0722:Spidr
|
UTSW |
16 |
15,730,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2005:Spidr
|
UTSW |
16 |
15,865,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Spidr
|
UTSW |
16 |
15,871,137 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2249:Spidr
|
UTSW |
16 |
15,936,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2876:Spidr
|
UTSW |
16 |
15,730,453 (GRCm39) |
splice site |
probably null |
|
|
R3087:Spidr
|
UTSW |
16 |
15,786,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3121:Spidr
|
UTSW |
16 |
15,958,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3765:Spidr
|
UTSW |
16 |
15,786,504 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4896:Spidr
|
UTSW |
16 |
15,936,806 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4939:Spidr
|
UTSW |
16 |
15,958,610 (GRCm39) |
nonsense |
probably null |
|
|
R5004:Spidr
|
UTSW |
16 |
15,936,806 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5042:Spidr
|
UTSW |
16 |
15,936,767 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5736:Spidr
|
UTSW |
16 |
15,715,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5839:Spidr
|
UTSW |
16 |
15,855,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5970:Spidr
|
UTSW |
16 |
15,932,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6084:Spidr
|
UTSW |
16 |
15,957,888 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6386:Spidr
|
UTSW |
16 |
15,786,424 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6572:Spidr
|
UTSW |
16 |
15,730,380 (GRCm39) |
splice site |
probably null |
|
|
R7238:Spidr
|
UTSW |
16 |
15,784,680 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7249:Spidr
|
UTSW |
16 |
15,784,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7334:Spidr
|
UTSW |
16 |
15,932,689 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7393:Spidr
|
UTSW |
16 |
15,964,695 (GRCm39) |
start gained |
probably benign |
|
|
R7681:Spidr
|
UTSW |
16 |
15,713,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7818:Spidr
|
UTSW |
16 |
15,932,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8247:Spidr
|
UTSW |
16 |
15,786,390 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8472:Spidr
|
UTSW |
16 |
15,958,591 (GRCm39) |
missense |
probably benign |
0.21 |
|
R8507:Spidr
|
UTSW |
16 |
15,786,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8854:Spidr
|
UTSW |
16 |
15,707,630 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9201:Spidr
|
UTSW |
16 |
15,730,556 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R9211:Spidr
|
UTSW |
16 |
15,871,319 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9216:Spidr
|
UTSW |
16 |
15,936,814 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9272:Spidr
|
UTSW |
16 |
15,855,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9276:Spidr
|
UTSW |
16 |
15,784,712 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9608:Spidr
|
UTSW |
16 |
15,855,474 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9689:Spidr
|
UTSW |
16 |
15,871,304 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9690:Spidr
|
UTSW |
16 |
15,958,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Spidr
|
UTSW |
16 |
15,707,616 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation