Incidental Mutation 'R3121:Spidr'
ID |
263251 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spidr
|
Ensembl Gene |
ENSMUSG00000041974 |
Gene Name |
scaffolding protein involved in DNA repair |
Synonyms |
2310008H04Rik |
MMRRC Submission |
040594-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3121 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
15707088-15964715 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15958724 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 13
(K13E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
|
AlphaFold |
Q8BGX7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040248
AA Change: K13E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038820 Gene: ENSMUSG00000041974 AA Change: K13E
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 |
0.0912 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,966,091 (GRCm39) |
M423K |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 86,255,246 (GRCm39) |
W780R |
probably damaging |
Het |
Ago3 |
A |
G |
4: 126,311,165 (GRCm39) |
I16T |
probably benign |
Het |
Amph |
T |
A |
13: 19,297,316 (GRCm39) |
L354* |
probably null |
Het |
Ankk1 |
G |
A |
9: 49,338,267 (GRCm39) |
L9F |
probably benign |
Het |
Brdt |
A |
G |
5: 107,525,011 (GRCm39) |
T851A |
probably damaging |
Het |
Bzw2 |
A |
C |
12: 36,170,788 (GRCm39) |
|
probably null |
Het |
Capn7 |
A |
T |
14: 31,081,167 (GRCm39) |
I395F |
probably damaging |
Het |
Ccdc146 |
T |
C |
5: 21,499,591 (GRCm39) |
R864G |
possibly damaging |
Het |
Ccdc50 |
G |
T |
16: 27,228,139 (GRCm39) |
R102L |
possibly damaging |
Het |
Cep83 |
T |
C |
10: 94,622,700 (GRCm39) |
V592A |
probably damaging |
Het |
Cgn |
G |
A |
3: 94,685,792 (GRCm39) |
|
probably benign |
Het |
Cidec |
C |
A |
6: 113,405,086 (GRCm39) |
V195L |
probably benign |
Het |
Cntln |
A |
G |
4: 84,923,289 (GRCm39) |
|
probably benign |
Het |
Cntrob |
A |
T |
11: 69,213,526 (GRCm39) |
L88* |
probably null |
Het |
Dnah17 |
C |
T |
11: 117,931,912 (GRCm39) |
V3687M |
probably damaging |
Het |
Dst |
T |
C |
1: 34,328,729 (GRCm39) |
I4599T |
probably damaging |
Het |
Dtl |
A |
T |
1: 191,285,175 (GRCm39) |
Y320* |
probably null |
Het |
Fam98b |
A |
G |
2: 117,098,408 (GRCm39) |
T293A |
probably damaging |
Het |
Farp1 |
G |
A |
14: 121,460,138 (GRCm39) |
|
probably benign |
Het |
Fat2 |
G |
T |
11: 55,202,622 (GRCm39) |
P151T |
probably damaging |
Het |
Fbxl17 |
A |
T |
17: 63,778,419 (GRCm39) |
M497K |
probably damaging |
Het |
Foxn4 |
T |
C |
5: 114,396,776 (GRCm39) |
T236A |
probably damaging |
Het |
Gm525 |
C |
T |
11: 88,979,374 (GRCm39) |
|
probably benign |
Het |
Golga4 |
C |
A |
9: 118,386,448 (GRCm39) |
T1190K |
possibly damaging |
Het |
H2-T23 |
T |
A |
17: 36,341,855 (GRCm39) |
M248L |
probably benign |
Het |
Homez |
T |
C |
14: 55,094,778 (GRCm39) |
E310G |
probably benign |
Het |
Hydin |
A |
G |
8: 111,233,138 (GRCm39) |
I1746V |
probably benign |
Het |
Igkv1-35 |
T |
A |
6: 69,988,641 (GRCm39) |
H6L |
probably benign |
Het |
Kcnt2 |
T |
C |
1: 140,356,622 (GRCm39) |
S354P |
probably damaging |
Het |
Khdc4 |
A |
G |
3: 88,596,599 (GRCm39) |
T127A |
probably damaging |
Het |
Klra4 |
G |
T |
6: 130,040,141 (GRCm39) |
Q44K |
probably benign |
Het |
L3mbtl3 |
A |
G |
10: 26,220,119 (GRCm39) |
|
probably benign |
Het |
Lamb1 |
C |
T |
12: 31,337,528 (GRCm39) |
R372C |
probably damaging |
Het |
Magea14 |
A |
T |
X: 51,057,968 (GRCm39) |
Y239* |
probably null |
Het |
Map3k9 |
A |
G |
12: 81,790,698 (GRCm39) |
I285T |
probably damaging |
Het |
Or4a47 |
T |
A |
2: 89,665,858 (GRCm39) |
I144L |
probably benign |
Het |
Or6c6 |
A |
G |
10: 129,186,552 (GRCm39) |
N40S |
possibly damaging |
Het |
Pcdhb16 |
A |
T |
18: 37,611,271 (GRCm39) |
Q77L |
possibly damaging |
Het |
Pramel20 |
T |
A |
4: 143,297,583 (GRCm39) |
M1K |
probably null |
Het |
Proser3 |
A |
G |
7: 30,239,796 (GRCm39) |
V436A |
probably benign |
Het |
Relch |
A |
G |
1: 105,653,524 (GRCm39) |
N834S |
probably benign |
Het |
Resf1 |
T |
A |
6: 149,230,741 (GRCm39) |
C1262* |
probably null |
Het |
Sec24b |
C |
T |
3: 129,795,953 (GRCm39) |
|
probably null |
Het |
Slc2a2 |
A |
G |
3: 28,775,898 (GRCm39) |
Q336R |
probably benign |
Het |
Sowahb |
T |
C |
5: 93,191,261 (GRCm39) |
D486G |
possibly damaging |
Het |
Tiam2 |
T |
A |
17: 3,489,977 (GRCm39) |
M786K |
probably benign |
Het |
Tktl2 |
T |
A |
8: 66,964,808 (GRCm39) |
V122E |
probably damaging |
Het |
Wapl |
A |
G |
14: 34,451,172 (GRCm39) |
I729M |
possibly damaging |
Het |
Zbbx |
T |
C |
3: 74,989,153 (GRCm39) |
T317A |
possibly damaging |
Het |
Zfp976 |
A |
G |
7: 42,262,938 (GRCm39) |
C300R |
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 |
IGL03110:Spidr
|
APN |
16 |
15,707,618 (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 |
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'- TCATGACAATAGCTTTCTTACCAGG -3'
(R):5'- GGGCCTTGAATTCCTGATCTG -3'
Sequencing Primer
(F):5'- GATCTCAGAGGTGTCCTGAAATCC -3'
(R):5'- ACGTGTTGTATTTTGTCAAATGCC -3'
|
Posted On |
2015-02-05 |