Incidental Mutation 'R0532:Shprh'
ID 49263
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 038724-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0532 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 11025171-11093339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 11038556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 437 (T437K)
Ref Sequence ENSEMBL: ENSMUSP00000125457 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810] [ENSMUST00000160461]
AlphaFold Q7TPQ3
Predicted Effect possibly damaging
Transcript: ENSMUST00000044053
AA Change: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T437K

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 possibly damaging
Transcript: ENSMUST00000054814
AA Change: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T437K

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 possibly damaging
Transcript: ENSMUST00000159541
AA Change: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T437K

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
Predicted Effect possibly damaging
Transcript: ENSMUST00000159810
AA Change: T437K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: T437K

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
SMART Domains Protein: ENSMUSP00000125127
Gene: ENSMUSG00000090112

DomainStartEndE-ValueType
PHD 131 178 2.33e-5 SMART
Meta Mutation Damage Score 0.1416 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.2%
Validation Efficiency 100% (90/90)
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: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik A T 18: 6,638,618 (GRCm39) E339V possibly damaging Het
9230009I02Rik A T 11: 50,982,405 (GRCm39) noncoding transcript Het
9230112D13Rik A T 14: 34,234,054 (GRCm39) I79K unknown Het
Adam25 C T 8: 41,208,987 (GRCm39) T751I probably benign Het
Adgrv1 C A 13: 81,727,015 (GRCm39) V446L probably damaging Het
Afap1 C A 5: 36,125,944 (GRCm39) A313D possibly damaging Het
Akap6 A G 12: 52,934,766 (GRCm39) T753A probably benign Het
Aldh16a1 G T 7: 44,792,262 (GRCm39) T730N probably damaging Het
Amfr A T 8: 94,725,736 (GRCm39) M215K probably damaging Het
Apob A G 12: 8,066,188 (GRCm39) R4386G possibly damaging Het
Arhgap45 A T 10: 79,857,917 (GRCm39) M217L possibly damaging Het
Baiap2l2 C T 15: 79,168,276 (GRCm39) E49K possibly damaging Het
Baz1a C T 12: 54,981,605 (GRCm39) E350K possibly damaging Het
Bbx A T 16: 50,086,647 (GRCm39) V83D probably damaging Het
Btaf1 T C 19: 36,928,586 (GRCm39) probably benign Het
Cacna2d1 G A 5: 16,567,271 (GRCm39) E942K probably benign Het
Cad T C 5: 31,219,531 (GRCm39) probably benign Het
Ccdc96 A G 5: 36,643,710 (GRCm39) K572R probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cep164 G A 9: 45,721,124 (GRCm39) R93* probably null Het
Cir1 A G 2: 73,140,799 (GRCm39) probably null Het
Crocc A G 4: 140,757,558 (GRCm39) S912P possibly damaging Het
Cwf19l2 T C 9: 3,431,057 (GRCm39) L463P probably benign Het
Cyp3a59 C T 5: 146,033,463 (GRCm39) Q200* probably null Het
Cyp4b1 G T 4: 115,484,073 (GRCm39) P303T probably damaging Het
Dcbld1 C A 10: 52,193,173 (GRCm39) T306K probably benign Het
Dgat2 A G 7: 98,818,988 (GRCm39) V56A possibly damaging Het
Dnajc16 A C 4: 141,516,320 (GRCm39) L16R probably damaging Het
Dnmt1 A C 9: 20,829,852 (GRCm39) probably benign Het
Dus3l A G 17: 57,076,308 (GRCm39) I528V probably damaging Het
Egflam T C 15: 7,263,718 (GRCm39) D744G probably benign Het
Epb41 A C 4: 131,706,106 (GRCm39) probably benign Het
Eri2 C T 7: 119,385,206 (GRCm39) V432I probably benign Het
Esyt2 A G 12: 116,320,818 (GRCm39) probably benign Het
Extl3 A T 14: 65,315,122 (GRCm39) M20K probably benign Het
Fam32a A G 8: 72,976,063 (GRCm39) Y103C probably damaging Het
Fat4 T C 3: 39,035,870 (GRCm39) V3174A probably benign Het
Fbxo40 T A 16: 36,789,984 (GRCm39) E375D possibly damaging Het
Frrs1 A G 3: 116,676,813 (GRCm39) T182A probably benign Het
Fry A G 5: 150,357,172 (GRCm39) probably benign Het
Fry T C 5: 150,402,226 (GRCm39) probably benign Het
Fsip2 A G 2: 82,808,129 (GRCm39) I1483V probably benign Het
Glra3 T A 8: 56,578,111 (GRCm39) D389E probably benign Het
Gpr3 A T 4: 132,937,796 (GRCm39) I292N probably damaging Het
Grina T C 15: 76,133,045 (GRCm39) M230T probably damaging Het
Igkv11-125 G A 6: 67,890,603 (GRCm39) W16* probably null Het
Il18r1 T C 1: 40,514,061 (GRCm39) V89A probably damaging Het
Ino80 T C 2: 119,212,464 (GRCm39) E1286G possibly damaging Het
Iqch G A 9: 63,415,514 (GRCm39) probably benign Het
Itpr2 G T 6: 146,013,898 (GRCm39) Q2666K probably damaging Het
Kcnh3 A G 15: 99,130,844 (GRCm39) D487G probably damaging Het
Kdm1a A G 4: 136,288,377 (GRCm39) L402P probably damaging Het
Klhl10 T G 11: 100,337,937 (GRCm39) probably benign Het
Krt39 T C 11: 99,405,617 (GRCm39) T428A possibly damaging Het
Mapk3 G A 7: 126,362,558 (GRCm39) probably benign Het
Med13l T A 5: 118,897,188 (GRCm39) S2089T possibly damaging Het
Mex3c G A 18: 73,723,124 (GRCm39) D406N possibly damaging Het
Mki67 G A 7: 135,299,893 (GRCm39) R1714* probably null Het
Mmp9 C A 2: 164,791,740 (GRCm39) S211* probably null Het
Nat8f2 G T 6: 85,844,784 (GRCm39) Q193K probably benign Het
Omt2a C A 9: 78,220,187 (GRCm39) A71S possibly damaging Het
Or10ak11 T G 4: 118,686,897 (GRCm39) T247P probably damaging Het
Or5ac22 T C 16: 59,134,964 (GRCm39) K269E probably benign Het
Pdgfra G A 5: 75,331,434 (GRCm39) V315I probably benign Het
Pdgfrb A G 18: 61,216,337 (GRCm39) D1065G probably damaging Het
Pfas A T 11: 68,893,455 (GRCm39) probably benign Het
Pramel5 T C 4: 143,999,310 (GRCm39) E259G probably benign Het
Prpf6 A G 2: 181,264,004 (GRCm39) Y222C possibly damaging Het
Rbck1 C A 2: 152,166,250 (GRCm39) Q229H probably damaging Het
Rdm1 T A 11: 101,526,661 (GRCm39) C278S probably benign Het
Sall1 T C 8: 89,759,819 (GRCm39) D95G probably benign Het
Scn1a T A 2: 66,148,167 (GRCm39) D1126V probably damaging Het
Scn4a C T 11: 106,221,226 (GRCm39) G811D probably benign Het
Sh2b1 A G 7: 126,071,444 (GRCm39) I247T probably benign Het
Slc13a4 A T 6: 35,264,339 (GRCm39) probably null Het
Slc16a1 C A 3: 104,560,734 (GRCm39) Y346* probably null Het
Slc25a38 G T 9: 119,949,772 (GRCm39) A163S probably damaging Het
Slc6a12 G A 6: 121,333,877 (GRCm39) V238I probably damaging Het
Slc8b1 C A 5: 120,657,736 (GRCm39) D66E probably damaging Het
Snapin A G 3: 90,396,893 (GRCm39) L106P probably damaging Het
Tas2r122 G A 6: 132,688,791 (GRCm39) S34F possibly damaging Het
Tiam2 A G 17: 3,471,921 (GRCm39) K521R probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Ttc3 T C 16: 94,188,189 (GRCm39) probably benign Het
Uba1y T C Y: 820,911 (GRCm39) F31L probably benign Het
Ucp3 A G 7: 100,131,186 (GRCm39) probably benign Het
Vcan T C 13: 89,851,891 (GRCm39) E1023G probably damaging Het
Vmn2r45 A G 7: 8,474,820 (GRCm39) I736T probably damaging Het
Vps36 T C 8: 22,708,261 (GRCm39) F342L probably benign Het
Zc3hc1 A G 6: 30,374,929 (GRCm39) probably benign Het
Zmym4 G A 4: 126,792,194 (GRCm39) Q596* probably null 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
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
R8061:Shprh UTSW 10 11,088,077 (GRCm39) missense possibly damaging 0.71
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'- AAAGAGAAAGTTCACTGCCCTCGTAAG -3'
(R):5'- TGGCCTTTGATCTGTTTCACAAGACC -3'

Sequencing Primer
(F):5'- AGAATTGGTCCCAGTACTACCTG -3'
(R):5'- GATCTGTTTCACAAGACCTTCAAAG -3'
Posted On 2013-06-12