Incidental Mutation 'R3765:Spidr'
| ID |
274677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spidr
|
| Ensembl Gene |
ENSMUSG00000041974 |
| Gene Name |
scaffolding protein involved in DNA repair |
| Synonyms |
2310008H04Rik |
| MMRRC Submission |
040742-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3765 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
15707088-15964715 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 15786504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 413
(E413G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
|
| AlphaFold |
Q8BGX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040248
AA Change: E413G
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: E413G
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
| Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
| Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
| C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
| Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
| Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
| Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
| Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
| Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
| Dpp4 |
T |
A |
2: 62,216,780 (GRCm39) |
T92S |
probably benign |
Het |
| Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
| Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
| Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
| Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
| Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
| Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
| Jmy |
T |
C |
13: 93,601,219 (GRCm39) |
M396V |
possibly damaging |
Het |
| Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
| Mre11a |
A |
G |
9: 14,721,143 (GRCm39) |
N354S |
probably benign |
Het |
| Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
| Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
| Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
| Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
| Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
| Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
| Polr1c |
C |
T |
17: 46,558,850 (GRCm39) |
V14M |
probably damaging |
Het |
| Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
| Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
| Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
| Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
| Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
| Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
| Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
| Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
| Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
| Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
| Taf1c |
G |
T |
8: 120,327,224 (GRCm39) |
Y418* |
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
| Tnpo3 |
T |
C |
6: 29,579,688 (GRCm39) |
D235G |
probably benign |
Het |
| Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
| Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
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 |
|
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 |
|
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'- GGTCCTTTCAAATACAGGTACAAG -3'
(R):5'- TGTAATGCCTTGCCCTGGTC -3'
Sequencing Primer
(F):5'- ACAGGTACAAGTACTACTACAAGTG -3'
(R):5'- ACCCACTCGTTGTTAGGAATG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation