Incidental Mutation 'R4937:Shprh'
ID 380491
Institutional Source Beutler Lab
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) question?
Stock # R4937 (G1)
Quality Score 224
Status Not validated
Chromosome 10
Chromosomal Location 11149427-11217595 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 11157119 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 283 (T283I)
Ref Sequence ENSEMBL: ENSMUSP00000125457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810]
AlphaFold Q7TPQ3
Predicted Effect probably benign
Transcript: ENSMUST00000044053
AA Change: T283I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T283I

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: T283I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T283I

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: T283I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T283I

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: T283I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: T283I

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 noncoding transcript
Transcript: ENSMUST00000161858
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.1%
  • 20x: 88.3%
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: 102 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik A G 5: 109,736,201 (GRCm38) F597S probably benign Het
Aasdh C A 5: 76,888,654 (GRCm38) E347* probably null Het
Abca16 G T 7: 120,527,086 (GRCm38) C1155F probably damaging Het
Adam26a T C 8: 43,568,881 (GRCm38) D524G probably damaging Het
Adamts20 G C 15: 94,379,775 (GRCm38) H269D probably benign Het
Akap9 T A 5: 4,050,145 (GRCm38) probably null Het
Akt3 T C 1: 177,050,127 (GRCm38) I358M possibly damaging Het
Aldh9a1 G T 1: 167,361,807 (GRCm38) A375S probably damaging Het
Alg2 A G 4: 47,473,974 (GRCm38) S105P probably benign Het
Amph A G 13: 19,104,345 (GRCm38) T335A probably damaging Het
Ank2 C T 3: 126,962,401 (GRCm38) V1056M probably damaging Het
Apoh A G 11: 108,407,378 (GRCm38) D168G probably benign Het
Arfgef3 C T 10: 18,589,706 (GRCm38) A2130T probably damaging Het
Arhgap30 A G 1: 171,403,329 (GRCm38) D218G probably benign Het
Ascc3 C T 10: 50,823,798 (GRCm38) P1906S probably damaging Het
Atp11b T G 3: 35,807,008 (GRCm38) probably null Het
B4galnt2 A G 11: 95,868,429 (GRCm38) V343A probably damaging Het
Barhl1 T C 2: 28,909,773 (GRCm38) Y280C probably damaging Het
Bcar1 A T 8: 111,721,037 (GRCm38) Y103N probably damaging Het
Bid A G 6: 120,895,746 (GRCm38) I150T probably benign Het
Ccdc171 T C 4: 83,549,639 (GRCm38) S74P probably damaging Het
Ccni A T 5: 93,188,254 (GRCm38) probably null Het
Cct8l1 A G 5: 25,516,893 (GRCm38) E202G probably benign Het
Cd200r3 A G 16: 44,954,259 (GRCm38) K212E probably benign Het
Cdh19 A G 1: 110,889,964 (GRCm38) S683P probably damaging Het
Ces2b A T 8: 104,832,781 (GRCm38) H93L probably benign Het
Cimip2b T A 4: 43,427,514 (GRCm38) Q270L possibly damaging Het
Clec4a1 G A 6: 122,930,695 (GRCm38) C114Y probably damaging Het
Dcc G T 18: 71,542,249 (GRCm38) S636* probably null Het
Dcdc2c T C 12: 28,530,473 (GRCm38) D187G possibly damaging Het
Dgkb G T 12: 38,114,658 (GRCm38) E150* probably null Het
Dhx30 A G 9: 110,085,961 (GRCm38) L884P probably damaging Het
Dmwd T G 7: 19,081,303 (GRCm38) probably null Het
Dnah17 T A 11: 118,042,154 (GRCm38) N3593Y probably damaging Het
Dnm2 G A 9: 21,481,337 (GRCm38) S447N probably benign Het
Elk4 G A 1: 132,017,681 (GRCm38) G99D probably damaging Het
Entpd1 A T 19: 40,739,521 (GRCm38) probably benign Het
Fam114a1 T A 5: 64,979,727 (GRCm38) D4E probably damaging Het
Fbln2 A G 6: 91,264,699 (GRCm38) D754G probably damaging Het
Fhip2a T C 19: 57,378,637 (GRCm38) V204A probably benign Het
Foxred2 T C 15: 77,955,835 (GRCm38) N85S probably damaging Het
Fut9 A G 4: 25,799,591 (GRCm38) probably benign Het
Gm13762 T A 2: 88,973,490 (GRCm38) I134F probably damaging Het
Gm1818 G A 12: 48,559,824 (GRCm38) noncoding transcript Het
Gm4894 C A 9: 49,278,700 (GRCm38) Q92K unknown Het
Gpx2 T C 12: 76,792,800 (GRCm38) I141M probably benign Het
Gusb T C 5: 129,995,485 (GRCm38) T476A probably damaging Het
Hmmr G A 11: 40,721,840 (GRCm38) T180I possibly damaging Het
Itgbl1 T C 14: 123,973,368 (GRCm38) Y493H probably benign Het
Klhdc9 G T 1: 171,360,383 (GRCm38) C93* probably null Het
Ldaf1 T C 7: 120,116,312 (GRCm38) S120P probably damaging Het
Lpar3 A G 3: 146,284,751 (GRCm38) K275E probably damaging Het
Lrp1b A G 2: 40,802,885 (GRCm38) probably null Het
Lrrc63 C T 14: 75,084,949 (GRCm38) G572S probably damaging Het
Mapk11 A T 15: 89,146,482 (GRCm38) D98E probably benign Het
Mgat4f T A 1: 134,389,976 (GRCm38) M162K probably benign Het
Net1 G A 13: 3,884,905 (GRCm38) R374W probably damaging Het
Nlrp4g T A 9: 124,354,005 (GRCm38) noncoding transcript Het
Nrap T A 19: 56,347,220 (GRCm38) Y923F probably damaging Het
Or13a20 T A 7: 140,652,621 (GRCm38) M214K probably benign Het
Or6c215 A T 10: 129,802,063 (GRCm38) V154E probably benign Het
Plxnc1 A G 10: 94,841,473 (GRCm38) V964A probably damaging Het
Pmfbp1 A G 8: 109,535,866 (GRCm38) I731V probably benign Het
Polq T A 16: 37,027,912 (GRCm38) S294T probably benign Het
Pomgnt2 T C 9: 121,982,554 (GRCm38) D387G probably benign Het
Pramel25 T C 4: 143,793,837 (GRCm38) V53A possibly damaging Het
Prmt2 G A 10: 76,221,008 (GRCm38) T227I probably damaging Het
Psmd1 T A 1: 86,083,225 (GRCm38) F341I probably damaging Het
Ptpn23 T C 9: 110,392,738 (GRCm38) M127V probably benign Het
Ptprc A G 1: 138,089,500 (GRCm38) F483L probably damaging Het
Rab35 A C 5: 115,640,088 (GRCm38) I38L probably damaging Het
Rapgef6 A G 11: 54,657,317 (GRCm38) T486A probably damaging Het
Rgl3 A T 9: 21,987,708 (GRCm38) C68* probably null Het
Rilpl1 T C 5: 124,515,531 (GRCm38) E189G possibly damaging Het
Rnf217 T C 10: 31,517,524 (GRCm38) I354V probably benign Het
Rspo3 T C 10: 29,506,528 (GRCm38) D50G probably damaging Het
Sbno1 A G 5: 124,374,609 (GRCm38) S1366P possibly damaging Het
Sema3c A G 5: 17,694,686 (GRCm38) D392G probably benign Het
Serpinb9e A T 13: 33,252,952 (GRCm38) Y85F probably benign Het
Sipa1l1 T C 12: 82,341,329 (GRCm38) S110P probably benign Het
Slc16a12 T A 19: 34,675,243 (GRCm38) I168F probably damaging Het
Slc23a3 A G 1: 75,132,624 (GRCm38) S221P probably damaging Het
Slc35b3 A T 13: 38,932,911 (GRCm38) I366K possibly damaging Het
Slc44a5 T C 3: 154,243,615 (GRCm38) probably null Het
Slc5a12 A T 2: 110,620,408 (GRCm38) D316V probably damaging Het
Ssr3 A G 3: 65,392,453 (GRCm38) S29P probably damaging Het
Taf2 G A 15: 55,027,223 (GRCm38) Q1055* probably null Het
Them6 A T 15: 74,721,518 (GRCm38) D75V probably damaging Het
Tom1l2 A G 11: 60,258,918 (GRCm38) S239P probably damaging Het
Tspear A G 10: 77,875,043 (GRCm38) T500A probably damaging Het
Tubgcp6 G A 15: 89,101,549 (GRCm38) A1487V probably damaging Het
Uba7 G A 9: 107,978,991 (GRCm38) V522I possibly damaging Het
Virma C A 4: 11,521,147 (GRCm38) C901* probably null Het
Vmn1r172 A T 7: 23,659,887 (GRCm38) I66F possibly damaging Het
Vmn2r82 A T 10: 79,379,176 (GRCm38) Y331F probably benign Het
Wdr55 G A 18: 36,762,398 (GRCm38) V143I probably benign Het
Zbtb49 A T 5: 38,213,963 (GRCm38) D191E possibly damaging Het
Zfhx4 A G 3: 5,242,011 (GRCm38) H99R probably damaging Het
Zfp1005 C T 2: 150,268,760 (GRCm38) H457Y unknown Het
Zfp560 C T 9: 20,347,967 (GRCm38) C533Y probably damaging Het
Zfp646 C T 7: 127,879,182 (GRCm38) A177V probably benign Het
Zfp653 C T 9: 22,055,778 (GRCm38) E604K 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
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'- TTAGGGGTGAGACCAATCCAG -3'
(R):5'- TTGCCGTCACCCCAATACATG -3'

Sequencing Primer
(F):5'- GTGAGACCAATCCAGAGATTATTG -3'
(R):5'- ATGCCCCACTATTAACTATCTGTAAC -3'
Posted On 2016-04-15