Incidental Mutation 'R8116:Shprh'
ID 631213
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 067545-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8116 (G1)
Quality Score 191.009
Status Not validated
Chromosome 10
Chromosomal Location 11025171-11093339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 11089205 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1648 (S1648P)
Ref Sequence ENSEMBL: ENSMUSP00000039422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541]
AlphaFold Q7TPQ3
Predicted Effect probably damaging
Transcript: ENSMUST00000044053
AA Change: S1648P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: S1648P

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: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 93.9%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A T 11: 109,982,420 (GRCm39) N7K probably benign Het
Akap9 T A 5: 4,111,183 (GRCm39) D3081E probably benign Het
Amer2 G A 14: 60,616,854 (GRCm39) A350T probably damaging Het
Amotl1 A G 9: 14,466,868 (GRCm39) probably null Het
Ankib1 A T 5: 3,752,995 (GRCm39) V651E probably damaging Het
Aox1 T C 1: 58,115,283 (GRCm39) V756A probably damaging Het
Arap2 A C 5: 62,887,954 (GRCm39) I464S probably benign Het
Atp8a2 A C 14: 60,263,657 (GRCm39) M359R probably damaging Het
Aunip T C 4: 134,250,618 (GRCm39) S188P possibly damaging Het
Cdt1 A G 8: 123,298,728 (GRCm39) E455G probably benign Het
Cyp2r1 G T 7: 114,149,590 (GRCm39) H475N probably benign Het
Dnah7a G T 1: 53,543,049 (GRCm39) H2374N probably benign Het
Dsc2 C T 18: 20,165,331 (GRCm39) G881R possibly damaging Het
Dst G A 1: 34,313,261 (GRCm39) A4343T probably benign Het
Efcab3 A G 11: 105,002,677 (GRCm39) D304G possibly damaging Het
Efcc1 T C 6: 87,728,772 (GRCm39) L409P probably damaging Het
Eno1 G T 4: 150,325,526 (GRCm39) S37I probably damaging Het
Ermp1 A T 19: 29,601,196 (GRCm39) L517Q probably damaging Het
Farp1 T G 14: 121,471,232 (GRCm39) I196S probably damaging Het
Fbxo21 A G 5: 118,128,919 (GRCm39) T310A possibly damaging Het
Fbxo31 C T 8: 122,287,127 (GRCm39) V149M probably damaging Het
Ggcx C A 6: 72,406,511 (GRCm39) T658N possibly damaging Het
Gpc5 A C 14: 115,636,637 (GRCm39) H440P probably damaging Het
H13 C T 2: 152,537,446 (GRCm39) A297V probably damaging Het
H2-DMb1 T A 17: 34,374,443 (GRCm39) L31Q probably damaging Het
Ifi207 G A 1: 173,557,746 (GRCm39) P331S unknown Het
Il11ra1 G T 4: 41,766,251 (GRCm39) A263S probably benign Het
Il1a C A 2: 129,144,864 (GRCm39) V185F probably damaging Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Kdm4d T A 9: 14,375,237 (GRCm39) K207M probably damaging Het
Lrrc37 A T 11: 103,434,115 (GRCm39) M3018K unknown Het
Lrrc4b T C 7: 44,110,533 (GRCm39) L135P probably damaging Het
Lrrk1 A G 7: 65,912,371 (GRCm39) Y1730H possibly damaging Het
Mcpt2 C A 14: 56,279,663 (GRCm39) A18D probably damaging Het
Mtmr4 C T 11: 87,502,756 (GRCm39) R937* probably null Het
Muc16 T A 9: 18,570,033 (GRCm39) T829S unknown Het
Myof A C 19: 37,921,167 (GRCm39) I1365S probably damaging Het
Npc2 C T 12: 84,807,612 (GRCm39) R82Q probably benign Het
Or10ag2 T A 2: 87,249,081 (GRCm39) S228T probably damaging Het
Or10d1c A T 9: 38,894,169 (GRCm39) M57K probably damaging Het
Or10j2 T A 1: 173,098,047 (GRCm39) F102I possibly damaging Het
Or2g25 G A 17: 37,970,631 (GRCm39) L198F probably damaging Het
Or4k45 T C 2: 111,395,783 (GRCm39) D2G probably benign Het
Or8b3b A T 9: 38,584,464 (GRCm39) I92N possibly damaging Het
Or8d2b T A 9: 38,789,026 (GRCm39) S185T probably damaging Het
Pdzph1 T C 17: 59,282,138 (GRCm39) N48S probably benign Het
Plce1 A T 19: 38,513,262 (GRCm39) H187L probably benign Het
Pramel6 G T 2: 87,338,808 (GRCm39) V3F probably benign Het
Prr5l CCTCGCTCGCTCGCTCGC CCTCGCTCGCTCGC 2: 101,627,919 (GRCm39) probably null Het
Pwwp3a G A 10: 80,076,231 (GRCm39) G474S probably damaging Het
Rabgap1l A G 1: 160,530,012 (GRCm39) Y358H probably benign Het
Rbbp8 T C 18: 11,855,727 (GRCm39) S625P probably damaging Het
Rhot1 A T 11: 80,141,879 (GRCm39) K461I probably benign Het
Rpa1 G A 11: 75,193,501 (GRCm39) T610I possibly damaging Het
Ryr1 G T 7: 28,810,308 (GRCm39) H316N probably benign Het
Sipa1 A T 19: 5,702,140 (GRCm39) D923E possibly damaging Het
Spata6 A G 4: 111,685,517 (GRCm39) Y474C possibly damaging Het
Sptbn1 A T 11: 30,089,117 (GRCm39) I715N probably damaging Het
Stab1 A T 14: 30,880,910 (GRCm39) D627E possibly damaging Het
Stard9 T A 2: 120,495,420 (GRCm39) C98* probably null Het
Tfpi2 T C 6: 3,963,872 (GRCm39) T187A probably damaging Het
Tmem63a G T 1: 180,788,048 (GRCm39) K267N probably benign Het
Topaz1 C T 9: 122,604,708 (GRCm39) A1104V probably benign Het
Trmt11 A G 10: 30,442,490 (GRCm39) I231T possibly damaging Het
Utp15 G A 13: 98,387,371 (GRCm39) T401I probably benign Het
Vmn2r13 T C 5: 109,322,926 (GRCm39) K121R probably benign Het
Xab2 C T 8: 3,663,830 (GRCm39) R363H probably damaging Het
Zfand2b T A 1: 75,145,504 (GRCm39) F3L possibly damaging Het
Zfyve28 A T 5: 34,374,944 (GRCm39) S357T probably damaging 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
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'- AGAACCTGCTTGACAACAGTTG -3'
(R):5'- GGAACCAATTGCCAATTATTACTAGGC -3'

Sequencing Primer
(F):5'- AGCATTTTCTGACAAAGCTTCAG -3'
(R):5'- AATTGCCAATTATTACTAGGCTAGAG -3'
Posted On 2020-06-30