Incidental Mutation 'R1263:Shprh'
ID |
151668 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shprh
|
Ensembl Gene |
ENSMUSG00000090112 |
Gene Name |
SNF2 histone linker PHD RING helicase |
Synonyms |
2610103K11Rik, D230017O13Rik |
MMRRC Submission |
039330-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1263 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
11025171-11093339 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 11035274 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Arginine
at position 327
(H327R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125457
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044053]
[ENSMUST00000054814]
[ENSMUST00000159541]
[ENSMUST00000159810]
[ENSMUST00000160461]
|
AlphaFold |
Q7TPQ3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044053
AA Change: H327R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000039422 Gene: ENSMUSG00000090112 AA Change: H327R
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 damaging
Transcript: ENSMUST00000054814
AA Change: H327R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125849 Gene: ENSMUSG00000090112 AA Change: H327R
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 damaging
Transcript: ENSMUST00000159541
AA Change: H327R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132870 Gene: ENSMUSG00000090112 AA Change: H327R
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 |
probably damaging
Transcript: ENSMUST00000159810
AA Change: H327R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125457 Gene: ENSMUSG00000090112 AA Change: H327R
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: 98.3%
- 10x: 96.4%
- 20x: 93.1%
|
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 |
Abca8b |
A |
C |
11: 109,832,433 (GRCm39) |
H1231Q |
possibly damaging |
Het |
Acbd4 |
T |
A |
11: 102,994,677 (GRCm39) |
|
probably null |
Het |
Atp13a4 |
T |
A |
16: 29,290,771 (GRCm39) |
Y226F |
possibly damaging |
Het |
Brd3 |
A |
C |
2: 27,352,534 (GRCm39) |
F132C |
probably damaging |
Het |
Btaf1 |
A |
T |
19: 36,933,924 (GRCm39) |
N184I |
probably benign |
Het |
Ccdc180 |
A |
G |
4: 45,903,887 (GRCm39) |
E351G |
possibly damaging |
Het |
Ccdc185 |
A |
T |
1: 182,574,918 (GRCm39) |
Y590* |
probably null |
Het |
Chi3l1 |
G |
A |
1: 134,116,980 (GRCm39) |
E315K |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,586,688 (GRCm39) |
M1778L |
probably benign |
Het |
Cyp3a59 |
A |
C |
5: 146,041,521 (GRCm39) |
Y355S |
probably damaging |
Het |
Cyp4a31 |
A |
G |
4: 115,431,908 (GRCm39) |
T396A |
probably benign |
Het |
Dnaaf6rt |
A |
T |
1: 31,262,296 (GRCm39) |
I93F |
probably damaging |
Het |
Dnah6 |
A |
T |
6: 73,121,948 (GRCm39) |
I1373N |
probably damaging |
Het |
Dop1b |
C |
A |
16: 93,574,274 (GRCm39) |
H1598N |
probably benign |
Het |
Erich4 |
T |
A |
7: 25,314,559 (GRCm39) |
K118M |
probably damaging |
Het |
Gkap1 |
A |
T |
13: 58,403,587 (GRCm39) |
V179E |
probably benign |
Het |
Gpr107 |
T |
G |
2: 31,068,267 (GRCm39) |
I243S |
possibly damaging |
Het |
Hs3st6 |
A |
G |
17: 24,977,504 (GRCm39) |
N328S |
probably damaging |
Het |
Kcnq5 |
A |
T |
1: 21,549,602 (GRCm39) |
I375N |
probably damaging |
Het |
Klhdc3 |
A |
T |
17: 46,987,892 (GRCm39) |
H266Q |
probably benign |
Het |
Krt71 |
C |
T |
15: 101,643,901 (GRCm39) |
G446R |
probably damaging |
Het |
L3mbtl2 |
A |
G |
15: 81,567,169 (GRCm39) |
T423A |
probably benign |
Het |
Mical3 |
T |
C |
6: 120,929,430 (GRCm39) |
E1812G |
probably damaging |
Het |
Nlrp1a |
A |
G |
11: 70,987,948 (GRCm39) |
I1174T |
probably benign |
Het |
Npas2 |
C |
A |
1: 39,373,849 (GRCm39) |
Q450K |
possibly damaging |
Het |
Nrp1 |
T |
A |
8: 129,194,870 (GRCm39) |
I442N |
probably damaging |
Het |
Or1j10 |
T |
A |
2: 36,267,006 (GRCm39) |
S73T |
probably damaging |
Het |
Or2y1 |
A |
T |
11: 49,385,848 (GRCm39) |
M163L |
probably benign |
Het |
Palld |
TGCGTAGCG |
TGCG |
8: 61,966,491 (GRCm39) |
|
probably null |
Het |
Pold3 |
T |
A |
7: 99,768,890 (GRCm39) |
Q36L |
possibly damaging |
Het |
Polg |
T |
C |
7: 79,109,534 (GRCm39) |
T428A |
probably benign |
Het |
Rfx7 |
T |
A |
9: 72,484,329 (GRCm39) |
V57E |
possibly damaging |
Het |
Rnf122 |
T |
G |
8: 31,602,177 (GRCm39) |
M1R |
probably null |
Het |
Sanbr |
A |
T |
11: 23,570,278 (GRCm39) |
Y207* |
probably null |
Het |
Scn10a |
T |
A |
9: 119,446,799 (GRCm39) |
T1410S |
probably damaging |
Het |
Serpinb13 |
T |
A |
1: 106,928,466 (GRCm39) |
V362E |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,234,922 (GRCm39) |
N927S |
probably damaging |
Het |
Sft2d1 |
A |
G |
17: 8,539,470 (GRCm39) |
K91R |
probably benign |
Het |
Slc9b2 |
C |
A |
3: 135,042,156 (GRCm39) |
H478Q |
probably benign |
Het |
Styxl1 |
G |
T |
5: 135,782,737 (GRCm39) |
S117R |
probably damaging |
Het |
Synj2 |
T |
C |
17: 6,069,634 (GRCm39) |
F150L |
probably damaging |
Het |
Tep1 |
C |
A |
14: 51,082,970 (GRCm39) |
V1013L |
possibly damaging |
Het |
Tgfbi |
T |
A |
13: 56,778,468 (GRCm39) |
L413Q |
probably damaging |
Het |
Tmc5 |
G |
A |
7: 118,266,093 (GRCm39) |
R789Q |
probably damaging |
Het |
Tonsl |
T |
A |
15: 76,506,762 (GRCm39) |
I115F |
possibly damaging |
Het |
Trim38 |
A |
G |
13: 23,975,117 (GRCm39) |
Y352C |
probably damaging |
Het |
Txnl4a |
T |
A |
18: 80,250,536 (GRCm39) |
V44D |
probably benign |
Het |
Vars2 |
A |
G |
17: 35,972,501 (GRCm39) |
V39A |
probably damaging |
Het |
Vmn2r105 |
A |
G |
17: 20,428,584 (GRCm39) |
C831R |
probably damaging |
Het |
Vmn2r26 |
T |
A |
6: 124,027,667 (GRCm39) |
I469N |
probably benign |
Het |
Vmn2r53 |
T |
C |
7: 12,315,533 (GRCm39) |
Y762C |
probably benign |
Het |
Vps13d |
T |
A |
4: 144,896,918 (GRCm39) |
Q334L |
probably benign |
Het |
Zfp277 |
A |
T |
12: 40,414,164 (GRCm39) |
I227N |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACTCTGTGGCATTTCCCAAATGAGC -3'
(R):5'- GAAGGCAGGATTTTCCCTCTATGGTC -3'
Sequencing Primer
(F):5'- ATGAGCCTTCCCAAGGATGTG -3'
(R):5'- ctaatctctcctttactctctagctc -3'
|
Posted On |
2014-01-29 |