Incidental Mutation 'R0722:Spidr'
ID |
63574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spidr
|
Ensembl Gene |
ENSMUSG00000041974 |
Gene Name |
scaffolding protein involved in DNA repair |
Synonyms |
2310008H04Rik |
MMRRC Submission |
038904-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0722 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
16 |
Chromosomal Location |
15707088-15964715 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 15730645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 620
(F620S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040248]
|
AlphaFold |
Q8BGX7 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000040248
AA Change: F620S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000038820 Gene: ENSMUSG00000041974 AA Change: F620S
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 91.7%
|
Validation Efficiency |
97% (63/65) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adap2 |
T |
C |
11: 80,047,810 (GRCm39) |
F89L |
possibly damaging |
Het |
Akr1c13 |
A |
G |
13: 4,247,931 (GRCm39) |
|
probably null |
Het |
Atp10a |
A |
G |
7: 58,465,931 (GRCm39) |
I1053V |
possibly damaging |
Het |
Bmper |
G |
T |
9: 23,285,224 (GRCm39) |
V258L |
probably benign |
Het |
Brd4 |
T |
C |
17: 32,431,956 (GRCm39) |
H636R |
possibly damaging |
Het |
Cacna2d4 |
C |
T |
6: 119,284,247 (GRCm39) |
R745W |
probably damaging |
Het |
Ccbe1 |
C |
T |
18: 66,217,877 (GRCm39) |
C112Y |
probably damaging |
Het |
Ccdc28b |
T |
A |
4: 129,514,945 (GRCm39) |
|
probably null |
Het |
Cd320 |
T |
C |
17: 34,065,004 (GRCm39) |
S46P |
possibly damaging |
Het |
Cfap251 |
T |
A |
5: 123,394,248 (GRCm39) |
V379E |
probably damaging |
Het |
Cfap44 |
G |
A |
16: 44,225,039 (GRCm39) |
E95K |
possibly damaging |
Het |
Clpp |
T |
C |
17: 57,299,901 (GRCm39) |
V144A |
probably damaging |
Het |
Crtam |
A |
T |
9: 40,903,912 (GRCm39) |
C96S |
probably damaging |
Het |
Dcst1 |
C |
T |
3: 89,261,112 (GRCm39) |
R480H |
probably benign |
Het |
Dock2 |
A |
T |
11: 34,414,970 (GRCm39) |
|
probably benign |
Het |
Ermard |
A |
G |
17: 15,242,390 (GRCm39) |
T189A |
probably benign |
Het |
Gm10840 |
A |
G |
11: 106,051,902 (GRCm39) |
|
probably benign |
Het |
Gm4845 |
T |
A |
1: 141,184,598 (GRCm39) |
|
noncoding transcript |
Het |
Heatr1 |
A |
G |
13: 12,420,918 (GRCm39) |
E403G |
probably benign |
Het |
Herc4 |
A |
G |
10: 63,121,844 (GRCm39) |
I399V |
probably null |
Het |
Htr1f |
A |
G |
16: 64,746,254 (GRCm39) |
I346T |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,934,382 (GRCm39) |
|
probably null |
Het |
Jmy |
G |
A |
13: 93,589,325 (GRCm39) |
T644I |
probably benign |
Het |
Kcnn2 |
T |
C |
18: 45,692,543 (GRCm39) |
C40R |
possibly damaging |
Het |
Krt13 |
T |
G |
11: 100,009,979 (GRCm39) |
K297T |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,513,296 (GRCm39) |
|
probably null |
Het |
Lrrc8b |
T |
C |
5: 105,627,978 (GRCm39) |
V108A |
possibly damaging |
Het |
Lrrc8c |
T |
A |
5: 105,727,414 (GRCm39) |
V26E |
probably damaging |
Het |
Or10g6 |
A |
G |
9: 39,934,295 (GRCm39) |
D202G |
probably damaging |
Het |
Or5p6 |
A |
G |
7: 107,631,541 (GRCm39) |
F3S |
probably benign |
Het |
Pcna |
A |
G |
2: 132,093,155 (GRCm39) |
|
probably benign |
Het |
Pgm2 |
A |
T |
5: 64,265,022 (GRCm39) |
R348* |
probably null |
Het |
Pikfyve |
T |
G |
1: 65,292,682 (GRCm39) |
S1378A |
probably damaging |
Het |
Pkp2 |
T |
C |
16: 16,064,892 (GRCm39) |
V472A |
probably benign |
Het |
Pld5 |
A |
G |
1: 175,803,081 (GRCm39) |
F395L |
probably benign |
Het |
Plekhb1 |
A |
T |
7: 100,294,810 (GRCm39) |
Y169N |
probably damaging |
Het |
Polr2c |
T |
A |
8: 95,589,265 (GRCm39) |
Y186N |
probably damaging |
Het |
Ppp1r16a |
C |
T |
15: 76,577,869 (GRCm39) |
Q328* |
probably null |
Het |
Prr5l |
A |
G |
2: 101,547,819 (GRCm39) |
|
probably benign |
Het |
Ptbp2 |
C |
T |
3: 119,514,570 (GRCm39) |
R419Q |
possibly damaging |
Het |
Ralgapa2 |
A |
G |
2: 146,230,451 (GRCm39) |
V1038A |
probably damaging |
Het |
Rassf2 |
A |
G |
2: 131,844,830 (GRCm39) |
V204A |
probably damaging |
Het |
Slc22a22 |
T |
C |
15: 57,119,949 (GRCm39) |
|
probably null |
Het |
Slit1 |
T |
C |
19: 41,596,874 (GRCm39) |
Y1075C |
probably damaging |
Het |
Smc5 |
C |
A |
19: 23,186,291 (GRCm39) |
L1055F |
probably damaging |
Het |
Susd1 |
A |
G |
4: 59,379,749 (GRCm39) |
S293P |
possibly damaging |
Het |
Tepsin |
A |
G |
11: 119,986,163 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
A |
T |
7: 84,870,794 (GRCm39) |
L830I |
possibly damaging |
Het |
Vtn |
A |
G |
11: 78,391,680 (GRCm39) |
|
probably benign |
Het |
Zfp267 |
C |
T |
3: 36,219,218 (GRCm39) |
H414Y |
probably benign |
Het |
Zfp280d |
T |
G |
9: 72,219,383 (GRCm39) |
S162A |
possibly damaging |
Het |
Zfp608 |
T |
G |
18: 55,033,306 (GRCm39) |
K409T |
probably damaging |
Het |
Zfp738 |
A |
T |
13: 67,819,643 (GRCm39) |
M116K |
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 |
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'- AGCTGCAACGTGTACTGCACTC -3'
(R):5'- TATGCTTAGTCTCCCAGATGCCCG -3'
Sequencing Primer
(F):5'- GCAACGTGTACTGCACTCATTAG -3'
(R):5'- gtaagccttgaacttgtgatcc -3'
|
Posted On |
2013-07-30 |