Incidental Mutation 'R8061:Shprh'
ID 619717
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 067497-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8061 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 11025171-11093339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11088077 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1620 (V1620A)
Ref Sequence ENSEMBL: ENSMUSP00000039422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541]
AlphaFold Q7TPQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044053
AA Change: V1620A

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: V1620A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads G A 5: 115,255,710 (GRCm39) R42C probably benign Het
Agrn G A 4: 156,263,411 (GRCm39) R338C probably damaging Het
Anapc1 T C 2: 128,490,408 (GRCm39) E1008G probably damaging Het
Art5 A T 7: 101,747,456 (GRCm39) Y108N possibly damaging Het
As3mt G A 19: 46,728,982 (GRCm39) C369Y probably damaging Het
Asb3 A G 11: 30,948,447 (GRCm39) N41S probably damaging Het
Astn1 G A 1: 158,331,920 (GRCm39) probably null Het
Asxl3 T A 18: 22,657,300 (GRCm39) M1770K possibly damaging Het
Atp8b2 T C 3: 89,853,527 (GRCm39) probably benign Het
Cfap300 A G 9: 8,042,672 (GRCm39) W37R probably damaging Het
Chrm1 T C 19: 8,656,518 (GRCm39) Y408H possibly damaging Het
Chst2 T C 9: 95,287,224 (GRCm39) H374R probably damaging Het
Cnot1 A G 8: 96,491,655 (GRCm39) F390L possibly damaging Het
Comt T C 16: 18,230,040 (GRCm39) Y100C probably benign Het
Cyria G T 12: 12,412,028 (GRCm39) A150S possibly damaging Het
Dclk2 T C 3: 86,720,981 (GRCm39) probably benign Het
Dicer1 G A 12: 104,669,077 (GRCm39) Q1202* probably null Het
Disp1 C T 1: 182,869,151 (GRCm39) V1090M probably damaging Het
Dnajc28 T C 16: 91,414,058 (GRCm39) D62G possibly damaging Het
Dock1 C T 7: 134,374,052 (GRCm39) T566I probably benign Het
Dop1a T G 9: 86,403,246 (GRCm39) M18R possibly damaging Het
Dop1b T C 16: 93,546,884 (GRCm39) L296P probably damaging Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Efcab3 A T 11: 104,997,275 (GRCm39) D155V probably benign Het
Ehmt2 T C 17: 35,124,903 (GRCm39) S465P possibly damaging Het
Eno1b G A 18: 48,180,725 (GRCm39) W301* probably null Het
Fpgt A G 3: 154,792,903 (GRCm39) S375P probably benign Het
Gas2l1 G A 11: 5,011,785 (GRCm39) S348F possibly damaging Het
Gen1 A T 12: 11,311,077 (GRCm39) probably benign Het
Ice1 A T 13: 70,751,851 (GRCm39) C1412S probably damaging Het
Iqcn A G 8: 71,161,224 (GRCm39) E139G probably benign Het
Klhl2 A C 8: 65,211,257 (GRCm39) L264V probably damaging Het
Lars2 A G 9: 123,288,562 (GRCm39) T803A probably benign Het
Ldb2 T A 5: 44,637,612 (GRCm39) K232M probably damaging Het
Lix1 G A 17: 17,663,938 (GRCm39) R92Q probably damaging Het
Meig1 C T 2: 3,410,240 (GRCm39) V87I not run Het
Mitf A C 6: 97,970,259 (GRCm39) S176R probably damaging Het
Myh7 A G 14: 55,228,398 (GRCm39) V236A probably benign Het
Myo5a T A 9: 75,030,239 (GRCm39) Y119* probably null Het
Ncapg2 A G 12: 116,390,197 (GRCm39) N382S probably benign Het
Neu2 C T 1: 87,524,633 (GRCm39) P206L probably damaging Het
Or2h2b-ps1 A G 17: 37,480,792 (GRCm39) F147S probably damaging Het
Osbpl5 C T 7: 143,256,461 (GRCm39) R454Q probably benign Het
Panx1 A G 9: 14,956,297 (GRCm39) S13P possibly damaging Het
Pde2a A G 7: 101,153,179 (GRCm39) D413G probably benign Het
Plcb1 A T 2: 135,188,316 (GRCm39) Y803F probably benign Het
Prrc2a T C 17: 35,380,162 (GRCm39) probably benign Het
Pth2r T A 1: 65,382,660 (GRCm39) Y143N possibly damaging Het
Ptpn4 C T 1: 119,619,330 (GRCm39) probably null Het
Rapgef3 T C 15: 97,659,401 (GRCm39) Y112C probably benign Het
Rusc2 A G 4: 43,422,492 (GRCm39) N907S probably damaging Het
Scn7a T A 2: 66,522,938 (GRCm39) N922I probably damaging Het
Slc25a54 T A 3: 109,018,361 (GRCm39) S280R probably damaging Het
Slc30a5 T C 13: 100,965,419 (GRCm39) I63M probably damaging Het
Smg1 A T 7: 117,751,610 (GRCm39) V2817E unknown Het
Sprr3 T C 3: 92,364,184 (GRCm39) E220G probably damaging Het
Tcf21 T C 10: 22,695,762 (GRCm39) E14G probably benign Het
Tenm4 A G 7: 96,501,663 (GRCm39) D1289G probably damaging Het
Tmem121b C A 6: 120,469,064 (GRCm39) G551V probably damaging Het
Tpk1 A G 6: 43,323,778 (GRCm39) S224P probably damaging Het
Trib1 T C 15: 59,523,404 (GRCm39) I146T probably damaging Het
Ttc32 T A 12: 9,084,953 (GRCm39) Y58N probably damaging Het
Vcan T A 13: 89,805,409 (GRCm39) I3336L probably benign Het
Vmn1r200 C A 13: 22,579,453 (GRCm39) Y85* probably null Het
Vps39 T C 2: 120,174,692 (GRCm39) I97V probably benign Het
Zan T A 5: 137,434,893 (GRCm39) I2167F unknown Het
Zfp37 A T 4: 62,109,665 (GRCm39) Y507* probably null Het
Zfp39 A G 11: 58,793,573 (GRCm39) V55A probably benign Het
Zfp616 A T 11: 73,974,340 (GRCm39) N294I possibly damaging Het
Zfp729a T C 13: 67,768,208 (GRCm39) T674A probably benign Het
Other mutations in Shprh
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GTGAGAGGGTTAGTTCATGAAGATC -3'
(R):5'- GGGACATGCTTTGGATAACATG -3'

Sequencing Primer
(F):5'- TTCATGAAGATCACATTGGCGG -3'
(R):5'- GACATGCTTTGGATAACATGCTTTTC -3'
Posted On 2020-01-23