Incidental Mutation 'R7998:Shprh'
ID 616201
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 046038-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7998 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 11149427-11217595 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11185341 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 1133 (W1133R)
Ref Sequence ENSEMBL: ENSMUSP00000039422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810]
AlphaFold Q7TPQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000044053
AA Change: W1133R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: W1133R

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 damaging
Transcript: ENSMUST00000054814
AA Change: W1133R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: W1133R

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 damaging
Transcript: ENSMUST00000159541
AA Change: W1133R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: W1133R

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
SMART Domains Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112

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
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik C T 14: 36,096,692 (GRCm38) R216C probably benign Het
Acsl3 C T 1: 78,694,271 (GRCm38) P294L probably damaging Het
Alox12b T C 11: 69,168,837 (GRCm38) Y572H probably damaging Het
Arid1b A G 17: 5,327,684 (GRCm38) D1236G probably damaging Het
Astl T C 2: 127,350,499 (GRCm38) L254P probably damaging Het
Btbd7 A C 12: 102,795,240 (GRCm38) L562R probably damaging Het
Chl1 T C 6: 103,729,289 (GRCm38) V1195A probably benign Het
Ciao2b T A 8: 104,641,036 (GRCm38) S94C probably damaging Het
Cib1 A T 7: 80,228,414 (GRCm38) Y105* probably null Het
Cog3 G T 14: 75,747,093 (GRCm38) S94Y possibly damaging Het
Cpne6 A C 14: 55,516,294 (GRCm38) Q403P probably damaging Het
Csn1s1 A G 5: 87,674,228 (GRCm38) N119S possibly damaging Het
Cux2 T C 5: 121,868,585 (GRCm38) D874G possibly damaging Het
Dicer1 A T 12: 104,704,069 (GRCm38) F1079Y probably damaging Het
Dsc2 T A 18: 20,034,663 (GRCm38) Q724H possibly damaging Het
Fbxw16 A G 9: 109,436,698 (GRCm38) V351A probably damaging Het
G2e3 A T 12: 51,353,841 (GRCm38) E59D probably benign Het
Gm10800 A AC 2: 98,667,033 (GRCm38) probably null Het
Gm10837 G T 14: 122,490,641 (GRCm38) probably benign Het
Gpr137b T C 13: 13,359,406 (GRCm38) Y355C Het
Gpr18 T C 14: 121,911,981 (GRCm38) I211V probably benign Het
Gstm7 T A 3: 107,930,341 (GRCm38) D98V probably damaging Het
Hspa8 A G 9: 40,804,514 (GRCm38) Y525C probably damaging Het
Itga7 T C 10: 128,934,151 (GRCm38) S55P probably damaging Het
Itpr1 T C 6: 108,417,948 (GRCm38) V1674A possibly damaging Het
Itsn1 G T 16: 91,850,936 (GRCm38) G893C unknown Het
Kcnc1 A G 7: 46,397,799 (GRCm38) D41G probably benign Het
Larp6 A G 9: 60,724,355 (GRCm38) K137E probably damaging Het
Leo1 G T 9: 75,445,276 (GRCm38) G34C probably benign Het
Map4 G A 9: 110,079,861 (GRCm38) V1050M probably damaging Het
Mast3 A G 8: 70,783,570 (GRCm38) V722A probably benign Het
Med28 T A 5: 45,525,199 (GRCm38) V69D probably damaging Het
Mier1 T C 4: 103,162,615 (GRCm38) F512S probably benign Het
Mix23 T A 16: 36,085,033 (GRCm38) V65D probably benign Het
Mov10l1 T A 15: 89,053,439 (GRCm38) V1147E probably damaging Het
Mroh7 T C 4: 106,711,281 (GRCm38) E409G probably benign Het
Muc16 G T 9: 18,639,892 (GRCm38) P5035Q probably benign Het
Nemp1 C A 10: 127,693,489 (GRCm38) S213R probably damaging Het
Npffr2 T C 5: 89,583,290 (GRCm38) Y360H probably damaging Het
Nrxn2 T C 19: 6,509,875 (GRCm38) V1221A probably damaging Het
Nup107 A G 10: 117,757,994 (GRCm38) F765L probably damaging Het
Nup188 T C 2: 30,330,971 (GRCm38) L991P probably damaging Het
Or13f5 A T 4: 52,825,970 (GRCm38) D191V possibly damaging Het
Or5ac23 T A 16: 59,329,270 (GRCm38) M80L probably benign Het
Pla2g7 A T 17: 43,611,318 (GRCm38) I363L probably benign Het
Ppp2r1a T C 17: 20,961,639 (GRCm38) F473S possibly damaging Het
Prex1 A G 2: 166,587,045 (GRCm38) probably null Het
Ptov1 A G 7: 44,864,929 (GRCm38) V263A probably damaging Het
Reg3a T C 6: 78,381,149 (GRCm38) V21A probably benign Het
Sdk2 T A 11: 113,859,938 (GRCm38) I550F probably benign Het
Slc28a2b T C 2: 122,494,358 (GRCm38) L137P probably damaging Het
Syne2 T C 12: 76,087,858 (GRCm38) V1297A probably damaging Het
Themis2 A G 4: 132,792,564 (GRCm38) I50T probably damaging Het
Tmprss15 C A 16: 79,001,843 (GRCm38) L650F possibly damaging Het
Ttc41 C A 10: 86,736,847 (GRCm38) N694K probably benign Het
Ttll9 T C 2: 152,991,626 (GRCm38) Y215H possibly damaging Het
Ttn C A 2: 76,903,309 (GRCm38) V4541L unknown Het
Usp32 G T 11: 84,994,426 (GRCm38) A1265E probably damaging Het
Vcan T A 13: 89,704,327 (GRCm38) D838V probably damaging Het
Vmn2r88 T C 14: 51,414,108 (GRCm38) I293T Het
Wdr36 T G 18: 32,852,519 (GRCm38) D496E probably damaging Het
Wrn T C 8: 33,292,643 (GRCm38) N753S probably benign Het
Zmat3 T C 3: 32,341,666 (GRCm38) R231G possibly 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
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
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'- GTATTTGCCCAATACACACAGTTTG -3'
(R):5'- GCATGCAGCTCCTGATACTAAATG -3'

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