Incidental Mutation 'IGL02502:Shprh'
| ID |
296105 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shprh
|
| Ensembl Gene |
ENSMUSG00000090112 |
| Gene Name |
SNF2 histone linker PHD RING helicase |
| Synonyms |
2610103K11Rik, D230017O13Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02502
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
11025171-11093339 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 11070101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1492
(D1492E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132870
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044053]
[ENSMUST00000054814]
[ENSMUST00000159541]
|
| AlphaFold |
Q7TPQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044053
AA Change: D1492E
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: D1492E
| 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 |
possibly damaging
Transcript: ENSMUST00000054814
AA Change: D1492E
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: D1492E
| 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 |
possibly damaging
Transcript: ENSMUST00000159541
AA Change: D1492E
PolyPhen 2
Score 0.664 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: D1492E
| 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
|
| Coding Region Coverage |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
A |
G |
2: 127,917,804 (GRCm39) |
N216S |
probably damaging |
Het |
| Akap12 |
A |
G |
10: 4,303,163 (GRCm39) |
D96G |
probably damaging |
Het |
| Akna |
A |
G |
4: 63,286,440 (GRCm39) |
V1353A |
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,730,877 (GRCm39) |
D914G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,601,439 (GRCm39) |
V84A |
possibly damaging |
Het |
| Arhgef6 |
T |
C |
X: 56,325,623 (GRCm39) |
E282G |
probably damaging |
Het |
| C2cd2 |
G |
T |
16: 97,677,590 (GRCm39) |
S378Y |
possibly damaging |
Het |
| Cd101 |
C |
A |
3: 100,919,141 (GRCm39) |
A654S |
probably damaging |
Het |
| Cep295 |
A |
C |
9: 15,262,209 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
A |
G |
5: 87,828,784 (GRCm39) |
I283V |
probably benign |
Het |
| Cst3 |
A |
G |
2: 148,717,065 (GRCm39) |
|
probably benign |
Het |
| Cyp2b9 |
T |
C |
7: 25,887,239 (GRCm39) |
|
probably null |
Het |
| Dffb |
A |
G |
4: 154,050,073 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,898,351 (GRCm39) |
Y3711C |
probably damaging |
Het |
| Eif4g2 |
T |
C |
7: 110,680,748 (GRCm39) |
S3G |
probably damaging |
Het |
| Erbb3 |
C |
T |
10: 128,406,153 (GRCm39) |
R1088H |
probably benign |
Het |
| Evpl |
T |
C |
11: 116,113,544 (GRCm39) |
D1382G |
probably damaging |
Het |
| Fam168a |
A |
G |
7: 100,473,417 (GRCm39) |
D102G |
probably damaging |
Het |
| Fbxo7 |
A |
G |
10: 85,869,161 (GRCm39) |
Y284C |
probably damaging |
Het |
| G6pd2 |
T |
C |
5: 61,966,971 (GRCm39) |
Y249H |
probably damaging |
Het |
| Gm1123 |
A |
T |
9: 98,891,443 (GRCm39) |
Y335* |
probably null |
Het |
| Gm5624 |
C |
T |
14: 44,797,296 (GRCm39) |
|
probably null |
Het |
| Hectd1 |
A |
T |
12: 51,844,635 (GRCm39) |
M536K |
possibly damaging |
Het |
| Ikbkg |
T |
A |
X: 73,487,433 (GRCm39) |
V334E |
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,650,257 (GRCm39) |
L769P |
probably damaging |
Het |
| Jmjd1c |
A |
T |
10: 67,061,640 (GRCm39) |
K1331I |
probably benign |
Het |
| Krt32 |
T |
C |
11: 99,978,749 (GRCm39) |
K102E |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,699,394 (GRCm39) |
N20K |
probably benign |
Het |
| Lrrc47 |
A |
G |
4: 154,100,471 (GRCm39) |
E349G |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,670,579 (GRCm39) |
I415V |
possibly damaging |
Het |
| Myh10 |
A |
G |
11: 68,705,198 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,462,836 (GRCm39) |
S1376P |
probably damaging |
Het |
| Nfx1 |
T |
C |
4: 40,976,345 (GRCm39) |
|
probably benign |
Het |
| Nherf4 |
G |
A |
9: 44,160,948 (GRCm39) |
A206V |
probably benign |
Het |
| Notch3 |
A |
T |
17: 32,377,252 (GRCm39) |
C246* |
probably null |
Het |
| Nr3c2 |
A |
G |
8: 77,969,143 (GRCm39) |
Y976C |
probably damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,696 (GRCm39) |
V82A |
probably damaging |
Het |
| Or52n4b |
T |
A |
7: 108,143,846 (GRCm39) |
M36K |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,112 (GRCm39) |
Y105C |
probably damaging |
Het |
| P2rx7 |
C |
T |
5: 122,819,050 (GRCm39) |
R491C |
possibly damaging |
Het |
| Phex |
T |
A |
X: 155,966,823 (GRCm39) |
Y625F |
possibly damaging |
Het |
| Pkhd1 |
T |
C |
1: 20,462,389 (GRCm39) |
D2055G |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,463,227 (GRCm39) |
|
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,640,539 (GRCm39) |
D16G |
probably damaging |
Het |
| Prune2 |
T |
A |
19: 17,101,245 (GRCm39) |
C2250S |
probably benign |
Het |
| Rasgef1a |
T |
A |
6: 118,057,443 (GRCm39) |
F48Y |
probably benign |
Het |
| Rhoq |
T |
C |
17: 87,271,077 (GRCm39) |
V15A |
probably damaging |
Het |
| Rnf216 |
G |
A |
5: 143,054,622 (GRCm39) |
A585V |
probably damaging |
Het |
| Septin9 |
T |
A |
11: 117,181,488 (GRCm39) |
I96N |
probably damaging |
Het |
| Slc22a26 |
A |
T |
19: 7,768,125 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
G |
4: 94,741,818 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
T |
C |
8: 48,741,051 (GRCm39) |
E782G |
probably damaging |
Het |
| Trmt5 |
A |
G |
12: 73,328,001 (GRCm39) |
C401R |
probably benign |
Het |
| Tspear |
T |
G |
10: 77,688,792 (GRCm39) |
|
probably benign |
Het |
| Ubr5 |
G |
A |
15: 38,030,933 (GRCm39) |
T414I |
probably benign |
Het |
| Vcl |
A |
T |
14: 21,069,453 (GRCm39) |
T710S |
probably damaging |
Het |
| Vmn2r25 |
A |
T |
6: 123,816,392 (GRCm39) |
D396E |
probably damaging |
Het |
| Wtip |
A |
G |
7: 33,818,094 (GRCm39) |
|
probably null |
Het |
| Zap70 |
A |
G |
1: 36,817,887 (GRCm39) |
|
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 |
|
|
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 |
|
R5318:Shprh
|
UTSW |
10 |
11,042,301 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation