Incidental Mutation 'R4423:Shprh'
ID |
327214 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shprh
|
Ensembl Gene |
ENSMUSG00000090112 |
Gene Name |
SNF2 histone linker PHD RING helicase |
Synonyms |
2610103K11Rik, D230017O13Rik |
MMRRC Submission |
041143-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4423 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
11025171-11093339 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 11062262 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glycine
at position 1219
(V1219G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132870
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044053]
[ENSMUST00000054814]
[ENSMUST00000159541]
[ENSMUST00000159810]
|
AlphaFold |
Q7TPQ3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044053
AA Change: V1219G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000039422 Gene: ENSMUSG00000090112 AA Change: V1219G
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: V1219G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125849 Gene: ENSMUSG00000090112 AA Change: V1219G
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: V1219G
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000132870 Gene: ENSMUSG00000090112 AA Change: V1219G
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
|
SMART Domains |
Protein: ENSMUSP00000125457 Gene: ENSMUSG00000090112
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 |
|
Meta Mutation Damage Score |
0.1465 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
C |
A |
10: 100,441,495 (GRCm39) |
P100Q |
probably damaging |
Het |
A630010A05Rik |
A |
G |
16: 14,436,577 (GRCm39) |
Y210C |
probably benign |
Het |
Arfgap1 |
C |
A |
2: 180,622,869 (GRCm39) |
D327E |
probably benign |
Het |
Arhgef9 |
T |
G |
X: 94,144,670 (GRCm39) |
I131L |
possibly damaging |
Het |
Asgr2 |
G |
A |
11: 69,996,211 (GRCm39) |
V218I |
probably benign |
Het |
Capns2 |
T |
A |
8: 93,628,252 (GRCm39) |
I47N |
possibly damaging |
Het |
Cep44 |
G |
A |
8: 56,991,652 (GRCm39) |
P317S |
probably benign |
Het |
Cfap144 |
A |
T |
11: 58,687,357 (GRCm39) |
|
probably null |
Het |
Cnot10 |
T |
A |
9: 114,446,988 (GRCm39) |
I363F |
probably damaging |
Het |
Coch |
T |
A |
12: 51,644,932 (GRCm39) |
|
probably null |
Het |
Dnah1 |
C |
T |
14: 31,006,718 (GRCm39) |
G2199D |
probably benign |
Het |
Dock9 |
A |
G |
14: 121,799,465 (GRCm39) |
|
probably null |
Het |
Dst |
T |
C |
1: 34,227,474 (GRCm39) |
I1689T |
possibly damaging |
Het |
Eif2ak4 |
T |
C |
2: 118,269,547 (GRCm39) |
F762S |
probably benign |
Het |
Eif2b5 |
A |
G |
16: 20,320,469 (GRCm39) |
D195G |
probably benign |
Het |
Elmo1 |
C |
G |
13: 20,784,382 (GRCm39) |
Y646* |
probably null |
Het |
Far1 |
T |
A |
7: 113,139,805 (GRCm39) |
S84R |
probably damaging |
Het |
Fhod1 |
T |
C |
8: 106,063,983 (GRCm39) |
|
probably benign |
Het |
Galnt15 |
A |
T |
14: 31,780,226 (GRCm39) |
I508F |
possibly damaging |
Het |
Grik1 |
T |
C |
16: 87,720,088 (GRCm39) |
T745A |
probably benign |
Het |
Hira |
A |
G |
16: 18,774,952 (GRCm39) |
D959G |
possibly damaging |
Het |
Hsf5 |
T |
C |
11: 87,522,460 (GRCm39) |
L351P |
probably damaging |
Het |
Icosl |
C |
T |
10: 77,907,707 (GRCm39) |
T89I |
possibly damaging |
Het |
Iws1 |
T |
A |
18: 32,216,503 (GRCm39) |
N414K |
probably damaging |
Het |
Kif1b |
A |
G |
4: 149,298,562 (GRCm39) |
S1035P |
probably damaging |
Het |
Lcp2 |
G |
T |
11: 34,028,226 (GRCm39) |
|
probably benign |
Het |
Map4 |
C |
T |
9: 109,896,662 (GRCm39) |
T631I |
probably damaging |
Het |
Nepn |
T |
A |
10: 52,267,911 (GRCm39) |
I59N |
probably damaging |
Het |
Nin |
T |
A |
12: 70,089,752 (GRCm39) |
K1221M |
probably damaging |
Het |
Nup155 |
A |
G |
15: 8,150,948 (GRCm39) |
T333A |
probably damaging |
Het |
Or10d4c |
A |
G |
9: 39,558,412 (GRCm39) |
Y130C |
probably damaging |
Het |
Or52h9 |
T |
C |
7: 104,202,552 (GRCm39) |
V142A |
probably benign |
Het |
Or8b43 |
A |
G |
9: 38,360,662 (GRCm39) |
T165A |
probably benign |
Het |
Plod2 |
T |
C |
9: 92,484,042 (GRCm39) |
L502S |
probably benign |
Het |
Pnpt1 |
A |
G |
11: 29,103,375 (GRCm39) |
|
probably null |
Het |
Ppat |
A |
G |
5: 77,063,061 (GRCm39) |
W517R |
probably damaging |
Het |
Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
Prkcq |
T |
C |
2: 11,260,980 (GRCm39) |
I344T |
possibly damaging |
Het |
Rbl1 |
A |
G |
2: 157,010,875 (GRCm39) |
|
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Sec62 |
T |
C |
3: 30,868,431 (GRCm39) |
M220T |
unknown |
Het |
Slc25a46 |
T |
C |
18: 31,742,651 (GRCm39) |
T72A |
probably benign |
Het |
Slc4a2 |
G |
A |
5: 24,644,846 (GRCm39) |
W1040* |
probably null |
Het |
Slc5a1 |
T |
C |
5: 33,312,018 (GRCm39) |
V470A |
possibly damaging |
Het |
Spmap2l |
T |
C |
5: 77,202,383 (GRCm39) |
I268T |
possibly damaging |
Het |
Syvn1 |
C |
T |
19: 6,099,951 (GRCm39) |
|
probably benign |
Het |
Tex47 |
G |
T |
5: 7,355,364 (GRCm39) |
A182S |
probably benign |
Het |
Top2a |
A |
G |
11: 98,892,231 (GRCm39) |
I1077T |
probably benign |
Het |
Tpcn1 |
T |
C |
5: 120,680,583 (GRCm39) |
K549R |
probably damaging |
Het |
Trpm2 |
T |
C |
10: 77,770,902 (GRCm39) |
D678G |
probably benign |
Het |
Tut7 |
T |
C |
13: 59,969,863 (GRCm39) |
K11E |
probably damaging |
Het |
Ube3a |
T |
C |
7: 58,925,861 (GRCm39) |
I234T |
probably benign |
Het |
Vmn2r57 |
T |
C |
7: 41,076,064 (GRCm39) |
K483E |
probably damaging |
Het |
Wnk1 |
T |
A |
6: 119,903,387 (GRCm39) |
S2111C |
probably damaging |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGCAGAGTGTGTGAATTTGACAG -3'
(R):5'- CAAGCACATGATCCTTGGTTTG -3'
Sequencing Primer
(F):5'- CAGCATGATTGACACACGTTTTCTG -3'
(R):5'- AGCACATGATCCTTGGTTTGTTTTAG -3'
|
Posted On |
2015-07-07 |