Incidental Mutation 'R5042:Spidr'
| ID |
393272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spidr
|
| Ensembl Gene |
ENSMUSG00000041974 |
| Gene Name |
scaffolding protein involved in DNA repair |
| Synonyms |
2310008H04Rik |
| MMRRC Submission |
042632-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5042 (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 15936767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 113
(T113A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
|
| AlphaFold |
Q8BGX7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040248
AA Change: T113A
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000038820
Gene: ENSMUSG00000041974
AA Change: T113A
| 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 |
0.0635 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 89.8%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
T |
A |
7: 29,273,927 (GRCm39) |
|
noncoding transcript |
Het |
| 4933413J09Rik |
C |
A |
14: 26,097,436 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1a2 |
A |
G |
9: 71,192,286 (GRCm39) |
I413V |
possibly damaging |
Het |
| Alpk2 |
C |
T |
18: 65,483,579 (GRCm39) |
W143* |
probably null |
Het |
| Anpep |
G |
T |
7: 79,489,217 (GRCm39) |
N318K |
probably benign |
Het |
| Art5 |
A |
T |
7: 101,748,672 (GRCm39) |
L10H |
probably damaging |
Het |
| Atg2b |
T |
G |
12: 105,587,521 (GRCm39) |
H1981P |
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,532 (GRCm39) |
T279A |
probably damaging |
Het |
| Bmp10 |
G |
T |
6: 87,411,039 (GRCm39) |
E277D |
probably damaging |
Het |
| Ccdc180 |
A |
G |
4: 45,916,255 (GRCm39) |
T191A |
probably damaging |
Het |
| Dars2 |
T |
A |
1: 160,872,664 (GRCm39) |
|
probably benign |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Fndc7 |
A |
T |
3: 108,770,102 (GRCm39) |
V608D |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,516 (GRCm39) |
|
noncoding transcript |
Het |
| Gbp2b |
A |
G |
3: 142,317,224 (GRCm39) |
K527E |
probably benign |
Het |
| Gm10719 |
T |
A |
9: 3,018,970 (GRCm39) |
F72I |
probably damaging |
Het |
| Hes3 |
T |
A |
4: 152,371,500 (GRCm39) |
S150C |
possibly damaging |
Het |
| Hp1bp3 |
T |
A |
4: 137,949,419 (GRCm39) |
M1K |
probably null |
Het |
| Il17rd |
T |
A |
14: 26,817,998 (GRCm39) |
V229E |
probably damaging |
Het |
| Iqch |
A |
G |
9: 63,403,516 (GRCm39) |
M634T |
possibly damaging |
Het |
| Magel2 |
C |
T |
7: 62,029,354 (GRCm39) |
R753W |
unknown |
Het |
| Med26 |
A |
G |
8: 73,250,919 (GRCm39) |
V60A |
probably damaging |
Het |
| Myo1d |
T |
A |
11: 80,448,347 (GRCm39) |
D926V |
probably damaging |
Het |
| Nat1 |
T |
G |
8: 67,944,228 (GRCm39) |
D201E |
probably benign |
Het |
| Nav3 |
G |
T |
10: 109,605,129 (GRCm39) |
S981R |
probably benign |
Het |
| Nbn |
C |
A |
4: 15,981,446 (GRCm39) |
L513M |
probably benign |
Het |
| Nfatc3 |
T |
C |
8: 106,834,757 (GRCm39) |
V701A |
probably benign |
Het |
| Nlrp9a |
A |
G |
7: 26,270,703 (GRCm39) |
D911G |
probably damaging |
Het |
| Npr2 |
A |
T |
4: 43,647,002 (GRCm39) |
I712F |
probably damaging |
Het |
| Oplah |
G |
A |
15: 76,189,909 (GRCm39) |
R235* |
probably null |
Het |
| Or10a48 |
A |
G |
7: 108,424,678 (GRCm39) |
I176T |
possibly damaging |
Het |
| Pcdha11 |
T |
A |
18: 37,144,649 (GRCm39) |
Y247N |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,870,630 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pkd1 |
A |
T |
17: 24,788,861 (GRCm39) |
D873V |
probably benign |
Het |
| Pnpla1 |
A |
G |
17: 29,100,021 (GRCm39) |
N296S |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,991,765 (GRCm39) |
V839A |
probably damaging |
Het |
| Ppm1j |
A |
T |
3: 104,690,036 (GRCm39) |
Q148L |
probably null |
Het |
| Prune2 |
T |
A |
19: 17,097,161 (GRCm39) |
N888K |
possibly damaging |
Het |
| Sh3bgr |
A |
G |
16: 96,007,066 (GRCm39) |
D12G |
probably benign |
Het |
| Snph |
T |
A |
2: 151,442,977 (GRCm39) |
I35F |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,979,465 (GRCm39) |
D1442V |
probably damaging |
Het |
| St13 |
A |
T |
15: 81,249,693 (GRCm39) |
N349K |
probably damaging |
Het |
| Ttll6 |
C |
T |
11: 96,045,430 (GRCm39) |
S549F |
possibly damaging |
Het |
| Uap1l1 |
A |
T |
2: 25,252,097 (GRCm39) |
S473T |
possibly damaging |
Het |
| Vmn1r54 |
T |
C |
6: 90,246,422 (GRCm39) |
V112A |
possibly damaging |
Het |
| Vmn2r57 |
G |
A |
7: 41,078,086 (GRCm39) |
S124L |
probably benign |
Het |
| Wasf2 |
A |
T |
4: 132,903,875 (GRCm39) |
R28W |
probably benign |
Het |
| Wwp2 |
T |
A |
8: 108,275,117 (GRCm39) |
N417K |
possibly damaging |
Het |
| Zc3h13 |
A |
T |
14: 75,576,836 (GRCm39) |
D1648V |
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 |
|
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 |
|
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'- GCCAGCCAGGTCTACAAAGT -3'
(R):5'- GTGCTTGTGGCTTTGTCTAAATA -3'
Sequencing Primer
(F):5'- GCCAGGTCTACAAAGTGAGTTCC -3'
(R):5'- AATCTCAGCCCTGCACTTGAGG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation