Incidental Mutation 'R8995:Shprh'
ID 684680
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 068826-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 11025171-11093339 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 11040574 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 682 (Y682*)
Ref Sequence ENSEMBL: ENSMUSP00000039422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810] [ENSMUST00000160461]
AlphaFold Q7TPQ3
Predicted Effect probably null
Transcript: ENSMUST00000044053
AA Change: Y682*
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: Y682*

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 null
Transcript: ENSMUST00000054814
AA Change: Y682*
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: Y682*

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 null
Transcript: ENSMUST00000159541
AA Change: Y682*
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: Y682*

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 null
Transcript: ENSMUST00000159810
AA Change: Y682*
SMART Domains Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: Y682*

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 null
Transcript: ENSMUST00000160461
AA Change: Y162*
SMART Domains Protein: ENSMUSP00000125127
Gene: ENSMUSG00000090112
AA Change: Y162*

DomainStartEndE-ValueType
PHD 131 178 2.33e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.1%
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A G 8: 122,257,764 (GRCm39) *214R probably null Het
Acd A G 8: 106,427,131 (GRCm39) L93P probably damaging Het
Adgrv1 GTT GT 13: 81,553,457 (GRCm39) probably null Het
Aldh1b1 T A 4: 45,803,413 (GRCm39) M317K possibly damaging Het
Arfgap2 C A 2: 91,103,929 (GRCm39) Q342K probably damaging Het
Arhgef16 C T 4: 154,371,495 (GRCm39) E233K probably damaging Het
Asxl1 C T 2: 153,235,886 (GRCm39) R323C probably damaging Het
Bank1 G T 3: 135,772,264 (GRCm39) D656E possibly damaging Het
Bdh2 A G 3: 135,000,989 (GRCm39) M120V probably damaging Het
Bend7 A G 2: 4,749,103 (GRCm39) I73M probably damaging Het
Cd207 C A 6: 83,652,891 (GRCm39) D80Y probably damaging Het
Cdon A G 9: 35,398,093 (GRCm39) T937A probably damaging Het
Cntn1 G A 15: 92,132,347 (GRCm39) V148M probably damaging Het
Csnk2a1-ps3 T A 1: 156,352,873 (GRCm39) V358E probably benign Het
Ddx50 A G 10: 62,469,862 (GRCm39) I375T probably damaging Het
Dhrs1 T A 14: 55,977,396 (GRCm39) T241S probably benign Het
Eef1b2 T C 1: 63,217,629 (GRCm39) Y79H probably damaging Het
Elmod2 A G 8: 84,049,315 (GRCm39) C84R probably benign Het
Exo1 A G 1: 175,736,127 (GRCm39) H837R probably benign Het
Fat3 T C 9: 16,286,898 (GRCm39) N875S probably damaging Het
Flvcr1 A T 1: 190,743,817 (GRCm39) L413Q probably damaging Het
Fras1 G T 5: 96,860,415 (GRCm39) V2154F possibly damaging Het
Golm2 A C 2: 121,756,199 (GRCm39) E409D probably damaging Het
Hectd4 G A 5: 121,392,422 (GRCm39) V229M possibly damaging Het
Ifitm6 A T 7: 140,596,617 (GRCm39) V52E probably damaging Het
Igkv4-58 A G 6: 69,477,511 (GRCm39) S29P probably damaging Het
Klc1 G A 12: 111,743,344 (GRCm39) A224T probably damaging Het
Knl1 T C 2: 118,902,990 (GRCm39) S1564P probably benign Het
Krt25 T C 11: 99,207,382 (GRCm39) D399G probably benign Het
Lamc1 T C 1: 153,207,993 (GRCm39) Q98R probably benign Het
Lpar1 T A 4: 58,486,954 (GRCm39) M106L probably damaging Het
Mpc1 A G 17: 8,502,784 (GRCm39) Y21C probably benign Het
Msr1 T A 8: 40,042,460 (GRCm39) I372F possibly damaging Het
Ndc80 T C 17: 71,815,598 (GRCm39) N396D probably benign Het
Nphp4 G A 4: 152,623,345 (GRCm39) R673H probably damaging Het
Nsd3 T C 8: 26,131,169 (GRCm39) F178S probably damaging Het
Or1p1b A T 11: 74,130,620 (GRCm39) T77S probably benign Het
Or8g54 T C 9: 39,707,313 (GRCm39) I214T possibly damaging Het
Pcdhgb7 T A 18: 37,885,230 (GRCm39) F133L probably damaging Het
Pikfyve A G 1: 65,244,746 (GRCm39) probably null Het
Pld5 A T 1: 175,791,580 (GRCm39) D475E probably benign Het
Potefam3f A T 8: 20,479,025 (GRCm39) H11L Het
Prop1 G A 11: 50,841,887 (GRCm39) P173L possibly damaging Het
Rabepk G A 2: 34,689,842 (GRCm39) probably benign Het
Reln A G 5: 22,184,577 (GRCm39) I1646T probably benign Het
Rexo1 A T 10: 80,386,095 (GRCm39) L321Q probably damaging Het
Rfx3 T A 19: 27,783,725 (GRCm39) E382V probably benign Het
Rnf20 C T 4: 49,648,437 (GRCm39) T415I possibly damaging Het
Rpl10-ps3 T A 9: 50,256,078 (GRCm39) D55V probably benign Het
Sag A G 1: 87,733,052 (GRCm39) T7A probably benign Het
Saysd1 G A 14: 20,133,005 (GRCm39) R51C probably damaging Het
Slc6a13 T C 6: 121,302,012 (GRCm39) I198T probably damaging Het
Slx9 G A 10: 77,333,303 (GRCm39) R121* probably null Het
Smyd5 C A 6: 85,415,829 (GRCm39) C101* probably null Het
Spata31d1d A G 13: 59,874,421 (GRCm39) V1038A probably benign Het
Stat6 T C 10: 127,494,511 (GRCm39) S692P probably benign Het
Tbc1d9 A T 8: 83,998,180 (GRCm39) M1246L probably benign Het
Tmprss5 T A 9: 49,025,894 (GRCm39) probably null Het
Trim12a A T 7: 103,953,532 (GRCm39) M193K probably benign Het
Ube2t T A 1: 134,899,658 (GRCm39) L102H probably damaging Het
Ubr1 G A 2: 120,697,034 (GRCm39) R1623W probably damaging Het
Ush2a T G 1: 188,176,850 (GRCm39) M1338R probably damaging Het
Usp36 A T 11: 118,175,825 (GRCm39) L112Q probably damaging Het
Vmn1r53 A G 6: 90,200,757 (GRCm39) M189T probably benign Het
Vmn1r54 T C 6: 90,246,668 (GRCm39) V194A probably benign Het
Vmn2r33 A G 7: 7,554,192 (GRCm39) V787A probably damaging Het
Vps26a A G 10: 62,300,458 (GRCm39) I236T probably damaging Het
Vwde A T 6: 13,195,996 (GRCm39) L343Q probably damaging Het
Xdh A G 17: 74,205,369 (GRCm39) V1032A probably damaging Het
Zan A G 5: 137,393,882 (GRCm39) F4523S unknown Het
Zfand5 T A 19: 21,254,387 (GRCm39) V66E probably benign Het
Zfp658 T A 7: 43,222,798 (GRCm39) C358S possibly damaging Het
Zfp977 T A 7: 42,232,072 (GRCm39) R64W probably damaging Het
Zfp995 C T 17: 22,099,172 (GRCm39) S354N 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
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
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'- AAAAGACTGTGCTGAGTCGC -3'
(R):5'- AAGCACCACTGTACAGGTTC -3'

Sequencing Primer
(F):5'- ACTGTGCTGAGTCGCCAAAC -3'
(R):5'- TAGCTGCAGTGCCTTACCAG -3'
Posted On 2021-10-11