Incidental Mutation 'R5970:Spidr'
| ID |
470825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spidr
|
| Ensembl Gene |
ENSMUSG00000041974 |
| Gene Name |
scaffolding protein involved in DNA repair |
| Synonyms |
2310008H04Rik |
| MMRRC Submission |
044153-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5970 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
15889224-16146851 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 16114869 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tryptophan
at position 182
(C182W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
|
| AlphaFold |
Q8BGX7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040248
AA Change: C182W
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: C182W
| 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 |
0.1347 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| Validation Efficiency |
98% (63/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
G |
A |
6: 90,597,046 (GRCm38) |
|
probably benign |
Het |
| Ambn |
T |
C |
5: 88,467,951 (GRCm38) |
V413A |
possibly damaging |
Het |
| Amotl1 |
T |
A |
9: 14,596,528 (GRCm38) |
D41V |
probably damaging |
Het |
| Arhgef26 |
T |
C |
3: 62,340,047 (GRCm38) |
V184A |
probably benign |
Het |
| Birc6 |
G |
T |
17: 74,618,502 (GRCm38) |
G936V |
possibly damaging |
Het |
| Ccser1 |
T |
A |
6: 61,311,242 (GRCm38) |
S130T |
possibly damaging |
Het |
| Cecr2 |
A |
G |
6: 120,720,907 (GRCm38) |
I56V |
probably damaging |
Het |
| Cfap52 |
A |
G |
11: 67,930,744 (GRCm38) |
I486T |
probably damaging |
Het |
| Col4a3 |
A |
G |
1: 82,716,329 (GRCm38) |
I1557V |
possibly damaging |
Het |
| Col6a5 |
T |
A |
9: 105,945,847 (GRCm38) |
I104F |
unknown |
Het |
| Cry2 |
A |
G |
2: 92,412,967 (GRCm38) |
S510P |
probably benign |
Het |
| Csmd2 |
G |
C |
4: 128,546,151 (GRCm38) |
A3133P |
probably benign |
Het |
| Cyld |
G |
T |
8: 88,732,993 (GRCm38) |
A611S |
probably damaging |
Het |
| Dennd4c |
G |
A |
4: 86,825,512 (GRCm38) |
G1197E |
probably damaging |
Het |
| Dnah10 |
T |
C |
5: 124,808,729 (GRCm38) |
F2969L |
probably benign |
Het |
| Dnaic1 |
A |
G |
4: 41,625,281 (GRCm38) |
K415R |
probably benign |
Het |
| Dnmbp |
T |
A |
19: 43,854,171 (GRCm38) |
T1253S |
probably benign |
Het |
| Dsp |
T |
C |
13: 38,195,702 (GRCm38) |
L1542P |
possibly damaging |
Het |
| Duox1 |
T |
A |
2: 122,340,201 (GRCm38) |
L1234Q |
probably damaging |
Het |
| Efr3b |
T |
A |
12: 3,968,590 (GRCm38) |
R585S |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,699,352 (GRCm38) |
|
probably null |
Het |
| Heatr6 |
G |
A |
11: 83,753,718 (GRCm38) |
|
probably benign |
Het |
| Kcns2 |
A |
G |
15: 34,839,784 (GRCm38) |
D431G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,829,289 (GRCm38) |
N1543D |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 64,625,380 (GRCm38) |
K154R |
probably benign |
Het |
| Mical3 |
G |
A |
6: 120,958,271 (GRCm38) |
Q893* |
probably null |
Het |
| Morc3 |
C |
T |
16: 93,866,453 (GRCm38) |
H515Y |
possibly damaging |
Het |
| Mprip |
A |
T |
11: 59,757,721 (GRCm38) |
R750S |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,451,491 (GRCm38) |
V1436M |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,790,669 (GRCm38) |
R69* |
probably null |
Het |
| Muc5b |
A |
T |
7: 141,856,712 (GRCm38) |
Y1274F |
unknown |
Het |
| Mybpc1 |
A |
G |
10: 88,542,456 (GRCm38) |
L674P |
probably damaging |
Het |
| Mypn |
A |
G |
10: 63,131,023 (GRCm38) |
V958A |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,296,818 (GRCm38) |
T2436A |
probably benign |
Het |
| Olfr835 |
A |
G |
9: 19,035,147 (GRCm38) |
D8G |
probably benign |
Het |
| Pcdhb5 |
T |
A |
18: 37,321,773 (GRCm38) |
L402Q |
probably damaging |
Het |
| Pigp |
T |
A |
16: 94,370,194 (GRCm38) |
|
probably null |
Het |
| Rp1 |
A |
G |
1: 4,348,462 (GRCm38) |
L809P |
probably benign |
Het |
| Scn3a |
T |
A |
2: 65,494,781 (GRCm38) |
|
probably benign |
Het |
| Sdf2 |
A |
T |
11: 78,246,080 (GRCm38) |
M29L |
probably benign |
Het |
| Serpina3b |
T |
G |
12: 104,134,091 (GRCm38) |
L311V |
possibly damaging |
Het |
| Snx31 |
A |
T |
15: 36,523,488 (GRCm38) |
Y349* |
probably null |
Het |
| St13 |
A |
T |
15: 81,377,798 (GRCm38) |
S146R |
probably damaging |
Het |
| St8sia4 |
A |
G |
1: 95,653,582 (GRCm38) |
V145A |
probably damaging |
Het |
| Stradb |
T |
C |
1: 58,980,016 (GRCm38) |
|
probably null |
Het |
| Tcp11l2 |
T |
A |
10: 84,594,797 (GRCm38) |
|
probably benign |
Het |
| Tfdp2 |
C |
T |
9: 96,317,574 (GRCm38) |
P74S |
unknown |
Het |
| Tmprss15 |
C |
T |
16: 79,057,659 (GRCm38) |
R287H |
probably benign |
Het |
| Trav10d |
T |
C |
14: 52,811,322 (GRCm38) |
Y57H |
probably damaging |
Het |
| Vmn2r104 |
A |
G |
17: 20,029,471 (GRCm38) |
I846T |
probably benign |
Het |
| Ywhah |
T |
A |
5: 33,026,948 (GRCm38) |
M165K |
possibly damaging |
Het |
| Zfp324 |
C |
A |
7: 12,969,366 (GRCm38) |
P72T |
probably benign |
Het |
|
| Other mutations in Spidr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Spidr
|
APN |
16 |
15,895,578 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00482:Spidr
|
APN |
16 |
16,114,969 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01760:Spidr
|
APN |
16 |
15,912,560 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
IGL02142:Spidr
|
APN |
16 |
16,048,081 (GRCm38) |
missense |
probably benign |
0.25 |
|
IGL02392:Spidr
|
APN |
16 |
15,889,630 (GRCm38) |
makesense |
probably null |
|
|
IGL02430:Spidr
|
APN |
16 |
16,114,910 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03110:Spidr
|
APN |
16 |
15,889,754 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0011:Spidr
|
UTSW |
16 |
15,966,603 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0504:Spidr
|
UTSW |
16 |
16,140,072 (GRCm38) |
missense |
possibly damaging |
0.73 |
|
R0505:Spidr
|
UTSW |
16 |
16,037,667 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0541:Spidr
|
UTSW |
16 |
15,915,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0675:Spidr
|
UTSW |
16 |
16,037,634 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0722:Spidr
|
UTSW |
16 |
15,912,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2005:Spidr
|
UTSW |
16 |
16,048,049 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2133:Spidr
|
UTSW |
16 |
16,053,273 (GRCm38) |
missense |
probably benign |
0.04 |
|
R2249:Spidr
|
UTSW |
16 |
16,118,923 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2876:Spidr
|
UTSW |
16 |
15,912,589 (GRCm38) |
splice site |
probably null |
|
|
R3087:Spidr
|
UTSW |
16 |
15,968,619 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3121:Spidr
|
UTSW |
16 |
16,140,860 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3765:Spidr
|
UTSW |
16 |
15,968,640 (GRCm38) |
missense |
probably benign |
0.39 |
|
R4896:Spidr
|
UTSW |
16 |
16,118,942 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R4939:Spidr
|
UTSW |
16 |
16,140,746 (GRCm38) |
nonsense |
probably null |
|
|
R5004:Spidr
|
UTSW |
16 |
16,118,942 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R5042:Spidr
|
UTSW |
16 |
16,118,903 (GRCm38) |
missense |
probably benign |
0.09 |
|
R5736:Spidr
|
UTSW |
16 |
15,897,298 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5839:Spidr
|
UTSW |
16 |
16,037,502 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6084:Spidr
|
UTSW |
16 |
16,140,024 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6386:Spidr
|
UTSW |
16 |
15,968,560 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6572:Spidr
|
UTSW |
16 |
15,912,516 (GRCm38) |
splice site |
probably null |
|
|
R7238:Spidr
|
UTSW |
16 |
15,966,816 (GRCm38) |
missense |
probably benign |
0.10 |
|
R7249:Spidr
|
UTSW |
16 |
15,966,648 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7334:Spidr
|
UTSW |
16 |
16,114,825 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7393:Spidr
|
UTSW |
16 |
16,146,831 (GRCm38) |
start gained |
probably benign |
|
|
R7681:Spidr
|
UTSW |
16 |
15,895,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7818:Spidr
|
UTSW |
16 |
16,114,865 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8247:Spidr
|
UTSW |
16 |
15,968,526 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8472:Spidr
|
UTSW |
16 |
16,140,727 (GRCm38) |
missense |
probably benign |
0.21 |
|
R8507:Spidr
|
UTSW |
16 |
15,968,676 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8854:Spidr
|
UTSW |
16 |
15,889,766 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9201:Spidr
|
UTSW |
16 |
15,912,692 (GRCm38) |
missense |
possibly damaging |
0.46 |
|
R9211:Spidr
|
UTSW |
16 |
16,053,455 (GRCm38) |
missense |
probably benign |
0.13 |
|
R9216:Spidr
|
UTSW |
16 |
16,118,950 (GRCm38) |
missense |
probably benign |
0.22 |
|
R9272:Spidr
|
UTSW |
16 |
16,037,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9276:Spidr
|
UTSW |
16 |
15,966,848 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9608:Spidr
|
UTSW |
16 |
16,037,610 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9689:Spidr
|
UTSW |
16 |
16,053,440 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9690:Spidr
|
UTSW |
16 |
16,140,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Spidr
|
UTSW |
16 |
15,889,752 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCCAGATTGATTTCCAGAGTGGTTG -3'
(R):5'- GCACATCAGCCACTGAGAATATG -3'
Sequencing Primer
(F):5'- GTGCCAGTTTGTGATTGTACCCAC -3'
(R):5'- GACTGGGAGGTTAACAGT -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation