Incidental Mutation 'R7582:Shprh'
ID 586812
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 045665-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7582 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 11149427-11217595 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11164705 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 641 (S641G)
Ref Sequence ENSEMBL: ENSMUSP00000039422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810] [ENSMUST00000160461]
AlphaFold Q7TPQ3
Predicted Effect probably benign
Transcript: ENSMUST00000044053
AA Change: S641G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: S641G

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
AA Change: S641G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: S641G

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
AA Change: S641G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: S641G

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 probably benign
Transcript: ENSMUST00000159810
AA Change: S641G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: S641G

DomainStartEndE-ValueType
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
AA Change: S121G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000125127
Gene: ENSMUSG00000090112
AA Change: S121G

DomainStartEndE-ValueType
PHD 131 178 2.33e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb A G 10: 10,390,821 (GRCm38) V1007A probably damaging Het
Adgrl3 T C 5: 81,693,676 (GRCm38) V800A probably damaging Het
Ankfn1 T A 11: 89,526,619 (GRCm38) M56L probably benign Het
Arfgap3 A C 15: 83,303,101 (GRCm38) V72G possibly damaging Het
B3galnt2 C T 13: 13,991,401 (GRCm38) R294W probably damaging Het
Cadm1 G T 9: 47,797,442 (GRCm38) D157Y probably damaging Het
Ccdc81 A T 7: 89,876,145 (GRCm38) Y474N probably damaging Het
Cdkl4 T A 17: 80,533,835 (GRCm38) K297I probably benign Het
Cep128 G A 12: 91,347,566 (GRCm38) T146M probably damaging Het
Cfap161 T C 7: 83,777,082 (GRCm38) N236S possibly damaging Het
Chil3 A T 3: 106,164,256 (GRCm38) W31R probably damaging Het
Cmtm2b C T 8: 104,322,721 (GRCm38) S86F probably damaging Het
Cntnap5a G A 1: 116,446,632 (GRCm38) G958D probably damaging Het
Col6a5 A G 9: 105,945,426 (GRCm38) L244P unknown Het
Crat C T 2: 30,404,565 (GRCm38) R497Q probably benign Het
Cul9 A G 17: 46,510,979 (GRCm38) Y1857H probably damaging Het
Dst A G 1: 34,169,883 (GRCm38) Q1154R probably damaging Het
Fgg G A 3: 83,014,138 (GRCm38) G376D probably damaging Het
Fmn2 T C 1: 174,698,790 (GRCm38) S1392P probably damaging Het
Focad T C 4: 88,229,378 (GRCm38) V418A probably benign Het
Foxf1 A T 8: 121,084,691 (GRCm38) H98L possibly damaging Het
Frmd4a C CA 2: 4,594,597 (GRCm38) probably null Het
Fry C A 5: 150,496,382 (GRCm38) T639K Het
Fryl A G 5: 73,022,500 (GRCm38) probably null Het
Gatsl3 T C 11: 4,220,457 (GRCm38) V151A probably benign Het
Gdpd4 A G 7: 97,957,805 (GRCm38) probably null Het
Gpt2 A G 8: 85,519,516 (GRCm38) K368R probably damaging Het
Hc A T 2: 34,991,266 (GRCm38) V1447E possibly damaging Het
Kmt5a A G 5: 124,459,919 (GRCm38) T280A probably benign Het
Lrrc4b G T 7: 44,461,810 (GRCm38) V369L probably benign Het
Ly6g5c A G 17: 35,111,807 (GRCm38) M102V probably benign Het
Malrd1 A G 2: 15,695,270 (GRCm38) S643G unknown Het
Mib2 T C 4: 155,654,810 (GRCm38) N904S probably benign Het
Mug2 G A 6: 122,079,644 (GRCm38) V1183I probably damaging Het
Nckap1l C T 15: 103,482,160 (GRCm38) T786I probably damaging Het
Neb T C 2: 52,334,492 (GRCm38) probably benign Het
Neu3 A G 7: 99,813,967 (GRCm38) V183A probably benign Het
Nod1 A G 6: 54,944,307 (GRCm38) L342P probably damaging Het
Nop58 T C 1: 59,700,938 (GRCm38) V163A probably damaging Het
Npr3 C T 15: 11,895,682 (GRCm38) G293R probably null Het
Obscn T A 11: 59,061,427 (GRCm38) K3939* probably null Het
Olfr1279 T A 2: 111,306,448 (GRCm38) M81K probably damaging Het
Olfr1426 G A 19: 12,088,006 (GRCm38) A262V probably benign Het
Olfr180 A T 16: 58,916,047 (GRCm38) M198K possibly damaging Het
Olfr502 A G 7: 108,523,851 (GRCm38) I33T probably benign Het
Olfr875 T C 9: 37,772,821 (GRCm38) L54P probably damaging Het
P2ry6 A G 7: 100,938,577 (GRCm38) Y192H probably damaging Het
Paxbp1 A G 16: 91,022,667 (GRCm38) probably null Het
Pign G A 1: 105,649,367 (GRCm38) T197I probably benign Het
Pirb A T 7: 3,713,818 (GRCm38) probably null Het
Pkdrej C A 15: 85,818,921 (GRCm38) R938L possibly damaging Het
Psg21 A G 7: 18,647,203 (GRCm38) *472R probably null Het
Rabgap1l A T 1: 160,682,084 (GRCm38) S474R probably benign Het
Rrn3 C T 16: 13,810,511 (GRCm38) Q519* probably null Het
Seh1l A T 18: 67,775,118 (GRCm38) K37* probably null Het
Slc4a1 T G 11: 102,352,577 (GRCm38) S743R probably damaging Het
Snx13 C T 12: 35,124,535 (GRCm38) R688* probably null Het
Tlr11 C T 14: 50,361,729 (GRCm38) Q391* probably null Het
Tmbim4 A G 10: 120,217,566 (GRCm38) H90R probably benign Het
Trav8d-1 T C 14: 52,778,869 (GRCm38) S71P possibly damaging Het
Trbv5 G A 6: 41,062,683 (GRCm38) R74Q probably benign Het
Tril A G 6: 53,818,936 (GRCm38) S434P probably benign Het
Uhmk1 A G 1: 170,200,001 (GRCm38) Y376H probably damaging Het
Uty A G Y: 1,170,914 (GRCm38) C317R probably damaging Het
Vmp1 C T 11: 86,585,399 (GRCm38) C377Y probably benign Het
Vwa8 A C 14: 78,982,234 (GRCm38) probably null Het
Wdr41 T C 13: 95,005,767 (GRCm38) S150P probably damaging Het
Zfp617 T A 8: 71,932,020 (GRCm38) Y65N probably benign Het
Zfp800 A C 6: 28,244,090 (GRCm38) V292G probably damaging 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
R0331:Shprh UTSW 10 11,194,170 (GRCm38) splice site probably benign
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
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'- GTTGAAGAAGCCTGCTTTACTAAC -3'
(R):5'- CATCGCAACAAGACAGTGGG -3'

Sequencing Primer
(F):5'- GCCTGCTTTACTAACTAAAAAGGG -3'
(R):5'- GGGCAGTAAAAAGGCTTAACC -3'
Posted On 2019-10-24