Incidental Mutation 'R0331:Shprh'
ID 26068
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 038540-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0331 (G1)
Quality Score 215
Status Validated
Chromosome 10
Chromosomal Location 11149427-11217595 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 11194170 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541]
AlphaFold Q7TPQ3
Predicted Effect probably benign
Transcript: ENSMUST00000044053
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112

DomainStartEndE-ValueType
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
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.8%
  • 20x: 91.7%
Validation Efficiency 100% (81/81)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011L22Rik T A 8: 79,229,392 (GRCm38) T79S probably benign Het
Abtb1 T C 6: 88,840,702 (GRCm38) probably benign Het
Acot12 G A 13: 91,760,064 (GRCm38) probably null Het
Adamts4 T A 1: 171,250,972 (GRCm38) S54T probably benign Het
Adgrl4 T C 3: 151,497,940 (GRCm38) S96P probably benign Het
Aip G T 19: 4,118,247 (GRCm38) T40K probably damaging Het
Anapc4 A G 5: 52,855,642 (GRCm38) probably benign Het
Asz1 A G 6: 18,103,619 (GRCm38) probably benign Het
Atf7ip A G 6: 136,561,163 (GRCm38) T465A possibly damaging Het
Atp11a C T 8: 12,816,953 (GRCm38) Q127* probably null Het
Axin1 A G 17: 26,143,107 (GRCm38) R142G probably damaging Het
B230359F08Rik A G 14: 53,795,748 (GRCm38) N38S probably benign Het
Bcat1 T A 6: 145,047,314 (GRCm38) E86V probably benign Het
Brd4 G A 17: 32,202,515 (GRCm38) P749L probably benign Het
C1ra G A 6: 124,519,435 (GRCm38) probably null Het
Capza2 A T 6: 17,665,103 (GRCm38) N237I probably benign Het
Cd2ap A T 17: 42,805,301 (GRCm38) V556E probably benign Het
Cfap65 G A 1: 74,929,301 (GRCm38) P124L probably damaging Het
Cfap65 G T 1: 74,929,302 (GRCm38) P124T probably damaging Het
Cftr T C 6: 18,235,226 (GRCm38) V488A possibly damaging Het
Ckmt1 A T 2: 121,362,856 (GRCm38) probably null Het
Cmya5 T G 13: 93,144,403 (GRCm38) E35A possibly damaging Het
Col7a1 A G 9: 108,967,502 (GRCm38) probably benign Het
Crmp1 C T 5: 37,265,313 (GRCm38) L155F possibly damaging Het
Cyp2d10 T A 15: 82,407,026 (GRCm38) T33S probably benign Het
Dhdh T C 7: 45,488,120 (GRCm38) K48E probably benign Het
Dlst T C 12: 85,118,812 (GRCm38) V103A probably damaging Het
Dohh C T 10: 81,387,812 (GRCm38) T233I probably benign Het
Dvl2 C A 11: 70,006,217 (GRCm38) probably benign Het
Eipr1 C T 12: 28,864,704 (GRCm38) Q286* probably null Het
Enpp6 C A 8: 47,082,449 (GRCm38) T343K probably damaging Het
Fbxw11 T A 11: 32,711,895 (GRCm38) F112I probably damaging Het
Gdpd4 T A 7: 97,973,008 (GRCm38) N231K probably benign Het
Gm6370 A T 5: 146,493,766 (GRCm38) T254S probably benign Het
Hapln4 G T 8: 70,084,509 (GRCm38) Q31H probably damaging Het
Hic1 T A 11: 75,165,490 (GRCm38) T858S possibly damaging Het
Isg20l2 T C 3: 87,931,785 (GRCm38) L101P probably damaging Het
Itga10 T C 3: 96,652,483 (GRCm38) Y485H probably damaging Het
Itgal T A 7: 127,306,681 (GRCm38) probably null Het
Itln1 T C 1: 171,531,549 (GRCm38) N62S probably damaging Het
Kdm4b T C 17: 56,386,289 (GRCm38) probably benign Het
Lct T C 1: 128,298,742 (GRCm38) probably benign Het
Lman2 A T 13: 55,353,016 (GRCm38) H123Q probably damaging Het
Lztr1 T A 16: 17,524,237 (GRCm38) probably benign Het
Myo3b G T 2: 70,095,261 (GRCm38) G24V probably damaging Het
Nacad T A 11: 6,599,441 (GRCm38) Q1250L possibly damaging Het
Ncor2 A T 5: 125,084,917 (GRCm38) M431K unknown Het
Nek9 T A 12: 85,327,375 (GRCm38) probably benign Het
Neu1 C A 17: 34,934,170 (GRCm38) N255K possibly damaging Het
Nf2 T A 11: 4,794,914 (GRCm38) T75S probably benign Het
Nipal4 T A 11: 46,150,213 (GRCm38) D385V probably damaging Het
Olah T A 2: 3,342,474 (GRCm38) N245I probably damaging Het
Olfr474 G T 7: 107,954,870 (GRCm38) L76F probably benign Het
Pag1 T A 3: 9,701,970 (GRCm38) T90S probably benign Het
Pald1 A G 10: 61,340,929 (GRCm38) probably null Het
Parva A G 7: 112,544,798 (GRCm38) M98V probably benign Het
Paxbp1 T A 16: 91,037,367 (GRCm38) D177V possibly damaging Het
Paxip1 A G 5: 27,765,232 (GRCm38) I587T probably damaging Het
Pclo T C 5: 14,680,376 (GRCm38) probably benign Het
Pdgfra T A 5: 75,195,052 (GRCm38) D1074E probably damaging Het
Pef1 A T 4: 130,127,448 (GRCm38) D265V probably damaging Het
Plekhh2 G A 17: 84,586,366 (GRCm38) E870K possibly damaging Het
Plscr4 G A 9: 92,482,642 (GRCm38) G40D probably damaging Het
Psg18 A G 7: 18,353,308 (GRCm38) Y142H probably benign Het
Ptchd3 A T 11: 121,842,191 (GRCm38) M636L probably benign Het
Rab2a A G 4: 8,572,559 (GRCm38) D51G probably benign Het
Rnf139 T A 15: 58,899,906 (GRCm38) D593E probably benign Het
Sept7 A G 9: 25,306,256 (GRCm38) N422S probably benign Het
Slc7a6os A G 8: 106,210,567 (GRCm38) I87T probably damaging Het
Slc7a7 A G 14: 54,377,924 (GRCm38) probably benign Het
Spc24 G T 9: 21,757,313 (GRCm38) N129K possibly damaging Het
Strip2 C T 6: 29,926,560 (GRCm38) T148I probably benign Het
Tmem150c A C 5: 100,086,273 (GRCm38) probably null Het
Ttn G T 2: 76,811,020 (GRCm38) Y11801* probably null Het
Usp37 A T 1: 74,454,064 (GRCm38) L688* probably null Het
Usp38 T C 8: 80,995,840 (GRCm38) I351V probably benign Het
Vav2 T A 2: 27,296,175 (GRCm38) M223L probably benign Het
Wdr36 A G 18: 32,852,915 (GRCm38) I557M possibly damaging Het
Wwc2 A T 8: 47,880,204 (GRCm38) M259K probably benign Het
Znfx1 G A 2: 167,046,978 (GRCm38) S770L probably benign Het
Other mutations in Shprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Shprh APN 10 11,188,158 (GRCm38) missense probably damaging 1.00
IGL00583:Shprh APN 10 11,188,020 (GRCm38) missense probably benign 0.37
IGL00684:Shprh APN 10 11,163,037 (GRCm38) missense probably benign 0.11
IGL01295:Shprh APN 10 11,183,868 (GRCm38) missense probably damaging 0.96
IGL01387:Shprh APN 10 11,170,254 (GRCm38) missense probably damaging 1.00
IGL01635:Shprh APN 10 11,170,019 (GRCm38) nonsense probably null
IGL01833:Shprh APN 10 11,191,062 (GRCm38) missense probably damaging 1.00
IGL02013:Shprh APN 10 11,181,502 (GRCm38) splice site probably benign
IGL02502:Shprh APN 10 11,194,357 (GRCm38) missense possibly damaging 0.66
IGL02819:Shprh APN 10 11,154,765 (GRCm38) missense possibly damaging 0.93
PIT4581001:Shprh UTSW 10 11,192,494 (GRCm38) frame shift probably null
R0010:Shprh UTSW 10 11,151,931 (GRCm38) missense probably benign
R0010:Shprh UTSW 10 11,151,931 (GRCm38) missense probably benign
R0053:Shprh UTSW 10 11,194,372 (GRCm38) splice site probably null
R0053:Shprh UTSW 10 11,194,372 (GRCm38) splice site probably null
R0255:Shprh UTSW 10 11,186,391 (GRCm38) missense possibly damaging 0.92
R0325:Shprh UTSW 10 11,170,109 (GRCm38) missense probably benign 0.00
R0494:Shprh UTSW 10 11,157,191 (GRCm38) missense probably damaging 1.00
R0532:Shprh UTSW 10 11,162,812 (GRCm38) missense possibly damaging 0.90
R0546:Shprh UTSW 10 11,183,887 (GRCm38) splice site probably benign
R0574:Shprh UTSW 10 11,163,077 (GRCm38) unclassified probably benign
R0605:Shprh UTSW 10 11,207,112 (GRCm38) missense probably damaging 1.00
R0662:Shprh UTSW 10 11,186,847 (GRCm38) missense probably damaging 1.00
R1148:Shprh UTSW 10 11,213,482 (GRCm38) missense possibly damaging 0.95
R1148:Shprh UTSW 10 11,213,482 (GRCm38) missense possibly damaging 0.95
R1263:Shprh UTSW 10 11,159,530 (GRCm38) missense probably damaging 1.00
R1588:Shprh UTSW 10 11,164,744 (GRCm38) missense probably damaging 1.00
R1638:Shprh UTSW 10 11,157,078 (GRCm38) missense probably benign
R1830:Shprh UTSW 10 11,186,911 (GRCm38) splice site probably null
R1898:Shprh UTSW 10 11,186,869 (GRCm38) missense probably damaging 1.00
R1903:Shprh UTSW 10 11,183,797 (GRCm38) nonsense probably null
R2060:Shprh UTSW 10 11,152,120 (GRCm38) missense probably benign 0.03
R2225:Shprh UTSW 10 11,162,235 (GRCm38) unclassified probably benign
R2363:Shprh UTSW 10 11,171,953 (GRCm38) missense probably damaging 1.00
R2509:Shprh UTSW 10 11,166,724 (GRCm38) missense probably damaging 1.00
R2891:Shprh UTSW 10 11,164,356 (GRCm38) missense probably damaging 1.00
R3077:Shprh UTSW 10 11,170,413 (GRCm38) missense probably damaging 1.00
R3150:Shprh UTSW 10 11,170,030 (GRCm38) missense probably damaging 0.97
R3796:Shprh UTSW 10 11,178,757 (GRCm38) missense possibly damaging 0.89
R4196:Shprh UTSW 10 11,207,860 (GRCm38) utr 3 prime probably benign
R4423:Shprh UTSW 10 11,186,518 (GRCm38) missense possibly damaging 0.82
R4488:Shprh UTSW 10 11,160,471 (GRCm38) missense probably benign 0.17
R4748:Shprh UTSW 10 11,170,476 (GRCm38) missense probably damaging 1.00
R4768:Shprh UTSW 10 11,181,540 (GRCm38) missense probably damaging 0.96
R4867:Shprh UTSW 10 11,164,557 (GRCm38) missense probably benign 0.00
R4937:Shprh UTSW 10 11,157,119 (GRCm38) missense probably benign
R5140:Shprh UTSW 10 11,154,705 (GRCm38) missense probably benign 0.03
R5318:Shprh UTSW 10 11,166,557 (GRCm38) missense probably benign 0.04
R5323:Shprh UTSW 10 11,170,297 (GRCm38) splice site probably null
R5450:Shprh UTSW 10 11,212,330 (GRCm38) missense possibly damaging 0.70
R5872:Shprh UTSW 10 11,188,073 (GRCm38) missense probably damaging 1.00
R6030:Shprh UTSW 10 11,151,991 (GRCm38) missense probably benign 0.37
R6030:Shprh UTSW 10 11,151,991 (GRCm38) missense probably benign 0.37
R6392:Shprh UTSW 10 11,178,741 (GRCm38) nonsense probably null
R6416:Shprh UTSW 10 11,167,873 (GRCm38) missense probably damaging 1.00
R6470:Shprh UTSW 10 11,171,937 (GRCm38) missense probably damaging 0.98
R6513:Shprh UTSW 10 11,186,893 (GRCm38) missense probably damaging 1.00
R6530:Shprh UTSW 10 11,194,267 (GRCm38) missense probably benign 0.02
R6678:Shprh UTSW 10 11,166,545 (GRCm38) missense probably benign 0.16
R6757:Shprh UTSW 10 11,181,508 (GRCm38) splice site probably null
R6971:Shprh UTSW 10 11,166,693 (GRCm38) missense probably damaging 1.00
R7158:Shprh UTSW 10 11,166,730 (GRCm38) missense probably damaging 0.98
R7582:Shprh UTSW 10 11,164,705 (GRCm38) missense probably benign
R7757:Shprh UTSW 10 11,162,180 (GRCm38) missense probably benign 0.30
R7812:Shprh UTSW 10 11,151,991 (GRCm38) missense probably benign
R7998:Shprh UTSW 10 11,185,341 (GRCm38) missense probably damaging 1.00
R8061:Shprh UTSW 10 11,212,333 (GRCm38) missense possibly damaging 0.71
R8082:Shprh UTSW 10 11,151,811 (GRCm38) missense probably benign 0.22
R8116:Shprh UTSW 10 11,213,461 (GRCm38) missense probably damaging 0.99
R8390:Shprh UTSW 10 11,187,983 (GRCm38) missense possibly damaging 0.92
R8445:Shprh UTSW 10 11,181,569 (GRCm38) missense possibly damaging 0.92
R8530:Shprh UTSW 10 11,151,934 (GRCm38) missense probably benign 0.37
R8759:Shprh UTSW 10 11,157,164 (GRCm38) missense possibly damaging 0.92
R8937:Shprh UTSW 10 11,185,437 (GRCm38) missense possibly damaging 0.60
R8995:Shprh UTSW 10 11,164,830 (GRCm38) nonsense probably null
R9053:Shprh UTSW 10 11,154,702 (GRCm38) missense probably benign 0.04
R9131:Shprh UTSW 10 11,162,845 (GRCm38) missense possibly damaging 0.58
R9176:Shprh UTSW 10 11,160,576 (GRCm38) missense probably benign 0.02
R9391:Shprh UTSW 10 11,162,889 (GRCm38) missense probably benign 0.05
R9423:Shprh UTSW 10 11,205,263 (GRCm38) missense probably damaging 1.00
R9563:Shprh UTSW 10 11,166,491 (GRCm38) nonsense probably null
R9668:Shprh UTSW 10 11,206,332 (GRCm38) missense probably damaging 0.97
R9709:Shprh UTSW 10 11,162,830 (GRCm38) missense possibly damaging 0.91
R9718:Shprh UTSW 10 11,213,504 (GRCm38) missense probably damaging 1.00
R9750:Shprh UTSW 10 11,164,460 (GRCm38) missense probably damaging 0.98
RF012:Shprh UTSW 10 11,164,841 (GRCm38) missense probably benign 0.02
V8831:Shprh UTSW 10 11,186,862 (GRCm38) missense probably damaging 1.00
Z1176:Shprh UTSW 10 11,186,447 (GRCm38) missense probably damaging 1.00
Z1176:Shprh UTSW 10 11,164,553 (GRCm38) missense probably benign
Z1177:Shprh UTSW 10 11,151,762 (GRCm38) frame shift probably null
Predicted Primers PCR Primer
(F):5'- GCTGAGAGCCTAAAACCCATTGCC -3'
(R):5'- TACGCTCACTGTGCCAACTGTC -3'

Sequencing Primer
(F):5'- CAGTTCTGCATTATCTGCTGTTAAG -3'
(R):5'- CACAGGGATATCATCCTCTTGG -3'
Posted On 2013-04-16