Incidental Mutation 'R5318:Shprh'
ID |
405934 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shprh
|
Ensembl Gene |
ENSMUSG00000090112 |
Gene Name |
SNF2 histone linker PHD RING helicase |
Synonyms |
2610103K11Rik, D230017O13Rik |
MMRRC Submission |
042901-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5318 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
11025171-11093339 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 11042301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Methionine
at position 761
(I761M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044053]
[ENSMUST00000054814]
[ENSMUST00000159541]
[ENSMUST00000159810]
[ENSMUST00000160461]
|
AlphaFold |
Q7TPQ3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044053
AA Change: I761M
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000039422 Gene: ENSMUSG00000090112 AA Change: I761M
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Blast:DEXDc
|
195 |
250 |
3e-12 |
BLAST |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
H15
|
431 |
497 |
3.76e-5 |
SMART |
PHD
|
651 |
698 |
2.33e-5 |
SMART |
low complexity region
|
1393 |
1404 |
N/A |
INTRINSIC |
RING
|
1423 |
1469 |
9.68e-3 |
SMART |
Pfam:Helicase_C
|
1500 |
1613 |
1.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000054814
AA Change: I761M
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000125849 Gene: ENSMUSG00000090112 AA Change: I761M
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Blast:DEXDc
|
195 |
250 |
3e-12 |
BLAST |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
H15
|
431 |
497 |
3.76e-5 |
SMART |
PHD
|
651 |
698 |
2.33e-5 |
SMART |
low complexity region
|
1393 |
1404 |
N/A |
INTRINSIC |
RING
|
1423 |
1469 |
9.68e-3 |
SMART |
SCOP:d1fuka_
|
1504 |
1616 |
6e-8 |
SMART |
Blast:HELICc
|
1533 |
1613 |
4e-46 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159541
AA Change: I761M
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000132870 Gene: ENSMUSG00000090112 AA Change: I761M
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Blast:DEXDc
|
195 |
250 |
3e-12 |
BLAST |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
H15
|
431 |
497 |
3.76e-5 |
SMART |
PHD
|
651 |
698 |
2.33e-5 |
SMART |
low complexity region
|
1393 |
1404 |
N/A |
INTRINSIC |
RING
|
1423 |
1469 |
9.68e-3 |
SMART |
SCOP:d1fuka_
|
1504 |
1619 |
4e-8 |
SMART |
Blast:HELICc
|
1533 |
1613 |
6e-46 |
BLAST |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159553
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159810
AA Change: I761M
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000125457 Gene: ENSMUSG00000090112 AA Change: I761M
Domain | Start | End | E-Value | Type |
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
Blast:DEXDc
|
195 |
250 |
2e-12 |
BLAST |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
DEXDc
|
295 |
866 |
4.02e-17 |
SMART |
H15
|
431 |
497 |
3.76e-5 |
SMART |
PHD
|
651 |
698 |
2.33e-5 |
SMART |
Blast:DEXDc
|
948 |
1026 |
2e-9 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160461
|
SMART Domains |
Protein: ENSMUSP00000125127 Gene: ENSMUSG00000090112
Domain | Start | End | E-Value | Type |
PHD
|
131 |
178 |
2.33e-5 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008] PHENOTYPE: The gene product is an E3 ligase involved in poly-ubiquitination of Pcna. Neither homozygous truncation nor KO affect B cell somatic hypermutation or class switching. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2300002M23Rik |
G |
A |
17: 35,878,883 (GRCm39) |
E74K |
possibly damaging |
Het |
Anapc15 |
C |
T |
7: 101,547,810 (GRCm39) |
P68L |
probably damaging |
Het |
Ankfn1 |
A |
G |
11: 89,282,754 (GRCm39) |
S298P |
probably damaging |
Het |
Arfgef2 |
A |
C |
2: 166,715,891 (GRCm39) |
K1393N |
probably damaging |
Het |
Atp4a |
T |
A |
7: 30,414,754 (GRCm39) |
V181E |
probably damaging |
Het |
Bin3 |
A |
G |
14: 70,371,961 (GRCm39) |
D134G |
possibly damaging |
Het |
Cabs1 |
A |
G |
5: 88,128,425 (GRCm39) |
T359A |
possibly damaging |
Het |
Cblb |
A |
T |
16: 52,006,561 (GRCm39) |
K754N |
possibly damaging |
Het |
Ccdc153 |
A |
T |
9: 44,157,062 (GRCm39) |
R135* |
probably null |
Het |
Cel |
T |
C |
2: 28,447,720 (GRCm39) |
E398G |
possibly damaging |
Het |
Clip1 |
G |
A |
5: 123,751,147 (GRCm39) |
|
probably benign |
Het |
Dnase2b |
C |
A |
3: 146,288,210 (GRCm39) |
R295L |
probably benign |
Het |
Dnm3 |
G |
A |
1: 161,839,376 (GRCm39) |
Q194* |
probably null |
Het |
Dtx2 |
T |
A |
5: 136,040,954 (GRCm39) |
S120T |
possibly damaging |
Het |
Fat3 |
A |
T |
9: 16,287,925 (GRCm39) |
S533T |
probably damaging |
Het |
Foxred2 |
T |
C |
15: 77,836,598 (GRCm39) |
I306V |
probably benign |
Het |
Gdpd5 |
A |
T |
7: 99,102,234 (GRCm39) |
T278S |
probably benign |
Het |
Gli2 |
T |
A |
1: 118,772,200 (GRCm39) |
T502S |
probably damaging |
Het |
Gm21830 |
A |
T |
2: 67,263,158 (GRCm39) |
|
probably null |
Het |
Gm5617 |
T |
A |
9: 48,407,211 (GRCm39) |
I115N |
possibly damaging |
Het |
Gpr75 |
G |
T |
11: 30,842,459 (GRCm39) |
A455S |
probably benign |
Het |
Grik3 |
A |
G |
4: 125,587,929 (GRCm39) |
E683G |
probably damaging |
Het |
Grin2b |
T |
C |
6: 135,710,916 (GRCm39) |
I877V |
probably damaging |
Het |
Gsg1l2 |
G |
T |
11: 67,673,347 (GRCm39) |
C109F |
possibly damaging |
Het |
H2-Q4 |
G |
A |
17: 35,602,287 (GRCm39) |
V341I |
possibly damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Kif5c |
A |
G |
2: 49,561,840 (GRCm39) |
K68R |
probably benign |
Het |
Lct |
T |
A |
1: 128,232,109 (GRCm39) |
H580L |
probably damaging |
Het |
Lrrtm4 |
A |
G |
6: 79,999,495 (GRCm39) |
I302M |
probably damaging |
Het |
Mef2b |
A |
T |
8: 70,619,493 (GRCm39) |
R228W |
probably damaging |
Het |
Mtus2 |
T |
A |
5: 148,013,382 (GRCm39) |
D58E |
probably benign |
Het |
Myh15 |
T |
G |
16: 48,930,834 (GRCm39) |
S603A |
probably damaging |
Het |
Or1x2 |
T |
C |
11: 50,918,420 (GRCm39) |
V197A |
probably benign |
Het |
Or8d1 |
C |
T |
9: 38,766,744 (GRCm39) |
P129S |
probably damaging |
Het |
Or8s2 |
A |
G |
15: 98,276,523 (GRCm39) |
I156T |
possibly damaging |
Het |
P2rx4 |
G |
A |
5: 122,857,211 (GRCm39) |
C149Y |
probably null |
Het |
Pramel51 |
A |
T |
12: 88,142,998 (GRCm39) |
C207S |
probably benign |
Het |
Proca1 |
T |
A |
11: 78,092,683 (GRCm39) |
V43E |
possibly damaging |
Het |
Rftn1 |
G |
T |
17: 50,301,486 (GRCm39) |
N454K |
probably benign |
Het |
Rrp15 |
T |
C |
1: 186,453,743 (GRCm39) |
T235A |
probably benign |
Het |
Serpina6 |
T |
C |
12: 103,620,221 (GRCm39) |
E176G |
possibly damaging |
Het |
Smg1 |
A |
T |
7: 117,759,427 (GRCm39) |
|
probably benign |
Het |
Snupn |
T |
C |
9: 56,864,345 (GRCm39) |
S15P |
probably damaging |
Het |
Tbc1d15 |
A |
T |
10: 115,044,874 (GRCm39) |
Y509* |
probably null |
Het |
Tcf4 |
T |
C |
18: 69,598,501 (GRCm39) |
V72A |
probably benign |
Het |
Tdrd3 |
T |
C |
14: 87,714,899 (GRCm39) |
|
probably null |
Het |
Tm9sf4 |
T |
A |
2: 153,029,576 (GRCm39) |
V175D |
probably benign |
Het |
Vmn1r201 |
T |
C |
13: 22,659,092 (GRCm39) |
L102P |
probably damaging |
Het |
Wdfy4 |
T |
A |
14: 32,800,300 (GRCm39) |
N1788I |
possibly damaging |
Het |
Xpc |
A |
C |
6: 91,469,992 (GRCm39) |
V744G |
probably damaging |
Het |
Xrcc6 |
T |
C |
15: 81,921,708 (GRCm39) |
F178L |
probably damaging |
Het |
Zbed6 |
A |
G |
1: 133,585,853 (GRCm39) |
S495P |
possibly damaging |
Het |
Zfyve26 |
A |
G |
12: 79,317,624 (GRCm39) |
V1196A |
probably benign |
Het |
|
Other mutations in Shprh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Shprh
|
APN |
10 |
11,063,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00583:Shprh
|
APN |
10 |
11,063,764 (GRCm39) |
missense |
probably benign |
0.37 |
IGL00684:Shprh
|
APN |
10 |
11,038,781 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01295:Shprh
|
APN |
10 |
11,059,612 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01387:Shprh
|
APN |
10 |
11,045,998 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01635:Shprh
|
APN |
10 |
11,045,763 (GRCm39) |
nonsense |
probably null |
|
IGL01833:Shprh
|
APN |
10 |
11,066,806 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02013:Shprh
|
APN |
10 |
11,057,246 (GRCm39) |
splice site |
probably benign |
|
IGL02502:Shprh
|
APN |
10 |
11,070,101 (GRCm39) |
missense |
possibly damaging |
0.66 |
IGL02819:Shprh
|
APN |
10 |
11,030,509 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4581001:Shprh
|
UTSW |
10 |
11,068,238 (GRCm39) |
frame shift |
probably null |
|
R0010:Shprh
|
UTSW |
10 |
11,027,675 (GRCm39) |
missense |
probably benign |
|
R0010:Shprh
|
UTSW |
10 |
11,027,675 (GRCm39) |
missense |
probably benign |
|
R0053:Shprh
|
UTSW |
10 |
11,070,116 (GRCm39) |
splice site |
probably null |
|
R0053:Shprh
|
UTSW |
10 |
11,070,116 (GRCm39) |
splice site |
probably null |
|
R0255:Shprh
|
UTSW |
10 |
11,062,135 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0325:Shprh
|
UTSW |
10 |
11,045,853 (GRCm39) |
missense |
probably benign |
0.00 |
R0331:Shprh
|
UTSW |
10 |
11,069,914 (GRCm39) |
splice site |
probably benign |
|
R0494:Shprh
|
UTSW |
10 |
11,032,935 (GRCm39) |
missense |
probably damaging |
1.00 |
R0532:Shprh
|
UTSW |
10 |
11,038,556 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0546:Shprh
|
UTSW |
10 |
11,059,631 (GRCm39) |
splice site |
probably benign |
|
R0574:Shprh
|
UTSW |
10 |
11,038,821 (GRCm39) |
unclassified |
probably benign |
|
R0605:Shprh
|
UTSW |
10 |
11,082,856 (GRCm39) |
missense |
probably damaging |
1.00 |
R0662:Shprh
|
UTSW |
10 |
11,062,591 (GRCm39) |
missense |
probably damaging |
1.00 |
R1148:Shprh
|
UTSW |
10 |
11,089,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1148:Shprh
|
UTSW |
10 |
11,089,226 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1263:Shprh
|
UTSW |
10 |
11,035,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Shprh
|
UTSW |
10 |
11,040,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R1638:Shprh
|
UTSW |
10 |
11,032,822 (GRCm39) |
missense |
probably benign |
|
R1830:Shprh
|
UTSW |
10 |
11,062,655 (GRCm39) |
splice site |
probably null |
|
R1898:Shprh
|
UTSW |
10 |
11,062,613 (GRCm39) |
missense |
probably damaging |
1.00 |
R1903:Shprh
|
UTSW |
10 |
11,059,541 (GRCm39) |
nonsense |
probably null |
|
R2060:Shprh
|
UTSW |
10 |
11,027,864 (GRCm39) |
missense |
probably benign |
0.03 |
R2225:Shprh
|
UTSW |
10 |
11,037,979 (GRCm39) |
unclassified |
probably benign |
|
R2363:Shprh
|
UTSW |
10 |
11,047,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Shprh
|
UTSW |
10 |
11,042,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R2891:Shprh
|
UTSW |
10 |
11,040,100 (GRCm39) |
missense |
probably damaging |
1.00 |
R3077:Shprh
|
UTSW |
10 |
11,046,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3150:Shprh
|
UTSW |
10 |
11,045,774 (GRCm39) |
missense |
probably damaging |
0.97 |
R3796:Shprh
|
UTSW |
10 |
11,054,501 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4196:Shprh
|
UTSW |
10 |
11,083,604 (GRCm39) |
utr 3 prime |
probably benign |
|
R4423:Shprh
|
UTSW |
10 |
11,062,262 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4488:Shprh
|
UTSW |
10 |
11,036,215 (GRCm39) |
missense |
probably benign |
0.17 |
R4748:Shprh
|
UTSW |
10 |
11,046,220 (GRCm39) |
missense |
probably damaging |
1.00 |
R4768:Shprh
|
UTSW |
10 |
11,057,284 (GRCm39) |
missense |
probably damaging |
0.96 |
R4867:Shprh
|
UTSW |
10 |
11,040,301 (GRCm39) |
missense |
probably benign |
0.00 |
R4937:Shprh
|
UTSW |
10 |
11,032,863 (GRCm39) |
missense |
probably benign |
|
R5140:Shprh
|
UTSW |
10 |
11,030,449 (GRCm39) |
missense |
probably benign |
0.03 |
R5323:Shprh
|
UTSW |
10 |
11,046,041 (GRCm39) |
splice site |
probably null |
|
R5450:Shprh
|
UTSW |
10 |
11,088,074 (GRCm39) |
missense |
possibly damaging |
0.70 |
R5872:Shprh
|
UTSW |
10 |
11,063,817 (GRCm39) |
missense |
probably damaging |
1.00 |
R6030:Shprh
|
UTSW |
10 |
11,027,735 (GRCm39) |
missense |
probably benign |
0.37 |
R6030:Shprh
|
UTSW |
10 |
11,027,735 (GRCm39) |
missense |
probably benign |
0.37 |
R6392:Shprh
|
UTSW |
10 |
11,054,485 (GRCm39) |
nonsense |
probably null |
|
R6416:Shprh
|
UTSW |
10 |
11,043,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R6470:Shprh
|
UTSW |
10 |
11,047,681 (GRCm39) |
missense |
probably damaging |
0.98 |
R6513:Shprh
|
UTSW |
10 |
11,062,637 (GRCm39) |
missense |
probably damaging |
1.00 |
R6530:Shprh
|
UTSW |
10 |
11,070,011 (GRCm39) |
missense |
probably benign |
0.02 |
R6678:Shprh
|
UTSW |
10 |
11,042,289 (GRCm39) |
missense |
probably benign |
0.16 |
R6757:Shprh
|
UTSW |
10 |
11,057,252 (GRCm39) |
splice site |
probably null |
|
R6971:Shprh
|
UTSW |
10 |
11,042,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R7158:Shprh
|
UTSW |
10 |
11,042,474 (GRCm39) |
missense |
probably damaging |
0.98 |
R7582:Shprh
|
UTSW |
10 |
11,040,449 (GRCm39) |
missense |
probably benign |
|
R7757:Shprh
|
UTSW |
10 |
11,037,924 (GRCm39) |
missense |
probably benign |
0.30 |
R7812:Shprh
|
UTSW |
10 |
11,027,735 (GRCm39) |
missense |
probably benign |
|
R7998:Shprh
|
UTSW |
10 |
11,061,085 (GRCm39) |
missense |
probably damaging |
1.00 |
R8061:Shprh
|
UTSW |
10 |
11,088,077 (GRCm39) |
missense |
possibly damaging |
0.71 |
R8082:Shprh
|
UTSW |
10 |
11,027,555 (GRCm39) |
missense |
probably benign |
0.22 |
R8116:Shprh
|
UTSW |
10 |
11,089,205 (GRCm39) |
missense |
probably damaging |
0.99 |
R8390:Shprh
|
UTSW |
10 |
11,063,727 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8445:Shprh
|
UTSW |
10 |
11,057,313 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8530:Shprh
|
UTSW |
10 |
11,027,678 (GRCm39) |
missense |
probably benign |
0.37 |
R8759:Shprh
|
UTSW |
10 |
11,032,908 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8937:Shprh
|
UTSW |
10 |
11,061,181 (GRCm39) |
missense |
possibly damaging |
0.60 |
R8995:Shprh
|
UTSW |
10 |
11,040,574 (GRCm39) |
nonsense |
probably null |
|
R9053:Shprh
|
UTSW |
10 |
11,030,446 (GRCm39) |
missense |
probably benign |
0.04 |
R9131:Shprh
|
UTSW |
10 |
11,038,589 (GRCm39) |
missense |
possibly damaging |
0.58 |
R9176:Shprh
|
UTSW |
10 |
11,036,320 (GRCm39) |
missense |
probably benign |
0.02 |
R9391:Shprh
|
UTSW |
10 |
11,038,633 (GRCm39) |
missense |
probably benign |
0.05 |
R9423:Shprh
|
UTSW |
10 |
11,081,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R9563:Shprh
|
UTSW |
10 |
11,042,235 (GRCm39) |
nonsense |
probably null |
|
R9668:Shprh
|
UTSW |
10 |
11,082,076 (GRCm39) |
missense |
probably damaging |
0.97 |
R9709:Shprh
|
UTSW |
10 |
11,038,574 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9718:Shprh
|
UTSW |
10 |
11,089,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R9750:Shprh
|
UTSW |
10 |
11,040,204 (GRCm39) |
missense |
probably damaging |
0.98 |
RF012:Shprh
|
UTSW |
10 |
11,040,585 (GRCm39) |
missense |
probably benign |
0.02 |
V8831:Shprh
|
UTSW |
10 |
11,062,606 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Shprh
|
UTSW |
10 |
11,062,191 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Shprh
|
UTSW |
10 |
11,040,297 (GRCm39) |
missense |
probably benign |
|
Z1177:Shprh
|
UTSW |
10 |
11,027,506 (GRCm39) |
frame shift |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- TTTCTCCAGACAGTTGTGCAATC -3'
(R):5'- CTGTAGGACACTCGACCATC -3'
Sequencing Primer
(F):5'- CAGACAGTTGTGCAATCTGTCTATAG -3'
(R):5'- TCTGAGCTTCATCAAGGCAG -3'
|
Posted On |
2016-07-22 |