Incidental Mutation 'R0011:Spidr'
ID |
98995 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spidr
|
Ensembl Gene |
ENSMUSG00000041974 |
Gene Name |
scaffolding protein involved in DNA repair |
Synonyms |
2310008H04Rik |
MMRRC Submission |
038306-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0011 (G1)
|
Quality Score |
22 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
15707088-15964715 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15784467 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 534
(W534R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
|
AlphaFold |
Q8BGX7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040248
AA Change: W534R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000038820 Gene: ENSMUSG00000041974 AA Change: W534R
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 |
noncoding transcript
Transcript: ENSMUST00000229846
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 95.9%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
T |
C |
5: 99,380,213 (GRCm39) |
Y344C |
probably damaging |
Het |
Alox15 |
A |
G |
11: 70,240,422 (GRCm39) |
V253A |
possibly damaging |
Het |
Ank3 |
A |
G |
10: 69,815,281 (GRCm39) |
|
probably benign |
Het |
Art3 |
T |
A |
5: 92,551,471 (GRCm39) |
Y17N |
probably damaging |
Het |
Asic3 |
C |
T |
5: 24,622,490 (GRCm39) |
|
probably benign |
Het |
Bach2 |
G |
T |
4: 32,244,655 (GRCm39) |
|
probably benign |
Het |
Brip1 |
C |
A |
11: 86,077,824 (GRCm39) |
K201N |
possibly damaging |
Het |
Ccdc88a |
T |
C |
11: 29,324,364 (GRCm39) |
F6S |
probably damaging |
Het |
Cdcp3 |
T |
A |
7: 130,831,722 (GRCm39) |
L389Q |
probably damaging |
Het |
Celsr2 |
A |
G |
3: 108,320,718 (GRCm39) |
I698T |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,382,903 (GRCm39) |
S2664P |
probably benign |
Het |
Cfap54 |
A |
T |
10: 92,901,087 (GRCm39) |
C156S |
probably damaging |
Het |
Cops4 |
C |
A |
5: 100,675,847 (GRCm39) |
Q28K |
probably benign |
Het |
Cyb5a |
T |
A |
18: 84,895,947 (GRCm39) |
|
probably benign |
Het |
Diaph3 |
A |
T |
14: 87,103,844 (GRCm39) |
C847S |
probably damaging |
Het |
Dnah3 |
T |
C |
7: 119,618,924 (GRCm39) |
K1648R |
probably damaging |
Het |
Dnai7 |
T |
A |
6: 145,124,781 (GRCm39) |
M515L |
probably damaging |
Het |
Emilin2 |
C |
T |
17: 71,580,863 (GRCm39) |
G621E |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,545,900 (GRCm39) |
K228* |
probably null |
Het |
Epg5 |
T |
C |
18: 77,991,698 (GRCm39) |
C132R |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,962,564 (GRCm39) |
D961N |
probably benign |
Het |
G6pc2 |
C |
A |
2: 69,056,909 (GRCm39) |
|
probably benign |
Het |
Gm7361 |
C |
T |
5: 26,463,876 (GRCm39) |
|
probably benign |
Het |
Grin2c |
T |
C |
11: 115,146,576 (GRCm39) |
Y476C |
probably damaging |
Het |
Hnrnpul1 |
T |
G |
7: 25,442,340 (GRCm39) |
|
probably benign |
Het |
Igf2bp1 |
T |
C |
11: 95,896,410 (GRCm39) |
D17G |
probably damaging |
Het |
Insrr |
T |
C |
3: 87,716,923 (GRCm39) |
C688R |
possibly damaging |
Het |
Itgb2l |
T |
C |
16: 96,228,861 (GRCm39) |
|
probably benign |
Het |
Kidins220 |
T |
A |
12: 25,049,351 (GRCm39) |
V322E |
probably damaging |
Het |
Klk1 |
C |
T |
7: 43,878,959 (GRCm39) |
T149I |
probably benign |
Het |
Mbd3l1 |
A |
G |
9: 18,395,863 (GRCm39) |
|
probably benign |
Het |
Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,266,148 (GRCm39) |
|
probably null |
Het |
Mtr |
T |
C |
13: 12,252,938 (GRCm39) |
|
probably benign |
Het |
Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
Npy4r |
C |
T |
14: 33,868,680 (GRCm39) |
V203M |
probably damaging |
Het |
Or8g52 |
T |
A |
9: 39,630,923 (GRCm39) |
N133K |
probably benign |
Het |
Pik3r4 |
C |
A |
9: 105,521,836 (GRCm39) |
T134K |
probably benign |
Het |
Rdh19 |
T |
A |
10: 127,692,780 (GRCm39) |
L149Q |
probably damaging |
Het |
Sema3e |
C |
T |
5: 14,194,025 (GRCm39) |
R85* |
probably null |
Het |
Shtn1 |
A |
G |
19: 59,020,650 (GRCm39) |
S191P |
possibly damaging |
Het |
Slc39a11 |
A |
T |
11: 113,138,659 (GRCm39) |
F279L |
probably benign |
Het |
Slc4a1 |
T |
C |
11: 102,247,936 (GRCm39) |
K353E |
possibly damaging |
Het |
Slc6a18 |
A |
T |
13: 73,813,738 (GRCm39) |
M515K |
possibly damaging |
Het |
Snapc4 |
A |
G |
2: 26,254,825 (GRCm39) |
I1225T |
probably benign |
Het |
Tmem202 |
T |
A |
9: 59,432,084 (GRCm39) |
N81I |
probably benign |
Het |
Tnfrsf1b |
T |
G |
4: 144,949,536 (GRCm39) |
R297S |
possibly damaging |
Het |
Trim55 |
A |
G |
3: 19,725,163 (GRCm39) |
T227A |
probably benign |
Het |
Trim58 |
A |
T |
11: 58,533,946 (GRCm39) |
T167S |
probably benign |
Het |
Trp53i11 |
A |
T |
2: 93,029,698 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,640,699 (GRCm39) |
H5356R |
probably damaging |
Het |
Tyrp1 |
C |
T |
4: 80,759,030 (GRCm39) |
T301I |
probably damaging |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Wscd1 |
T |
C |
11: 71,679,654 (GRCm39) |
V509A |
probably damaging |
Het |
Zfp251 |
A |
G |
15: 76,738,754 (GRCm39) |
V108A |
probably benign |
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 |
IGL03110:Spidr
|
APN |
16 |
15,707,618 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTCCTGATGGCAGTGTGGTAGATAT -3'
(R):5'- AGTTGCTGCTCCCCTGAGGAA -3'
Sequencing Primer
(F):5'- tttgctctttgcctgcttg -3'
(R):5'- ATTCTCTTCTGGACATTGTGGAAAG -3'
|
Posted On |
2014-01-10 |