Incidental Mutation 'R8937:Shprh'
ID 680733
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 068710-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8937 (G1)
Quality Score 225.009
Status Validated
Chromosome 10
Chromosomal Location 11025171-11093339 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11061181 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1165 (T1165A)
Ref Sequence ENSEMBL: ENSMUSP00000132870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810]
AlphaFold Q7TPQ3
Predicted Effect probably benign
Transcript: ENSMUST00000044053
AA Change: T1165A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T1165A

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
AA Change: T1165A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T1165A

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: T1165A

PolyPhen 2 Score 0.597 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T1165A

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
Meta Mutation Damage Score 0.0591 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 95% (71/75)
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930455H04Rik C A 3: 116,762,120 (GRCm39) probably benign Het
Actn3 C T 19: 4,921,798 (GRCm39) probably null Het
Akap13 T A 7: 75,184,601 (GRCm39) probably null Het
Akap9 A T 5: 4,094,048 (GRCm39) Q2190L possibly damaging Het
Ankrd6 A T 4: 32,823,452 (GRCm39) V190D possibly damaging Het
Atrn T A 2: 130,841,157 (GRCm39) D1186E probably benign Het
Bank1 A T 3: 135,989,934 (GRCm39) V52E probably damaging Het
Blmh A G 11: 76,857,883 (GRCm39) N342D probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Ces2f A G 8: 105,677,669 (GRCm39) T225A probably damaging Het
Clic6 G T 16: 92,296,245 (GRCm39) D302Y probably damaging Het
Clmn T A 12: 104,763,341 (GRCm39) N95I probably damaging Het
Cmya5 A T 13: 93,232,840 (GRCm39) F749L probably benign Het
Cramp1 A G 17: 25,202,956 (GRCm39) F358L probably damaging Het
Dhx38 T C 8: 110,283,098 (GRCm39) D573G probably damaging Het
Dync1h1 T C 12: 110,584,471 (GRCm39) Y625H probably damaging Het
Enpep A G 3: 129,115,007 (GRCm39) probably null Het
Fat1 T C 8: 45,483,350 (GRCm39) L3146P probably damaging Het
Gal3st2b G A 1: 93,868,570 (GRCm39) S265N probably benign Het
Glis3 G A 19: 28,643,266 (GRCm39) A92V possibly damaging Het
Gm266 T C 12: 111,452,173 (GRCm39) D11G probably benign Het
Hmcn2 A T 2: 31,204,427 (GRCm39) M1L probably benign Het
Kcnj15 G A 16: 95,097,548 (GRCm39) probably benign Het
Krt27 A G 11: 99,239,551 (GRCm39) S310P probably damaging Het
Lama2 A T 10: 26,862,816 (GRCm39) D2982E probably damaging Het
Lrfn3 A G 7: 30,059,451 (GRCm39) V258A probably benign Het
Lrit3 A T 3: 129,594,193 (GRCm39) M128K probably damaging Het
Ltbp3 A G 19: 5,797,512 (GRCm39) T417A probably benign Het
Mettl25 T C 10: 105,601,122 (GRCm39) T554A probably benign Het
Micall1 A G 15: 79,011,198 (GRCm39) S523G probably damaging Het
Mmp21 G A 7: 133,280,700 (GRCm39) A90V probably benign Het
Mon2 T C 10: 122,895,110 (GRCm39) N53S probably benign Het
Muc15 T C 2: 110,562,252 (GRCm39) probably null Het
Myo15b A T 11: 115,773,127 (GRCm39) M431L probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Nt5c3 T C 6: 56,861,701 (GRCm39) D195G probably damaging Het
Or3a1b T A 11: 74,012,874 (GRCm39) M253K probably benign Het
Or52h1 A G 7: 103,828,949 (GRCm39) L222P possibly damaging Het
Pals1 T A 12: 78,866,115 (GRCm39) D313E probably benign Het
Pgrmc2 A G 3: 41,037,125 (GRCm39) L102P probably damaging Het
Plekha1 T G 7: 130,502,241 (GRCm39) probably benign Het
Pramel23 T C 4: 143,423,562 (GRCm39) Y409C probably damaging Het
Prss59 A T 6: 40,902,999 (GRCm39) Y124* probably null Het
Ralgapa1 T G 12: 55,749,345 (GRCm39) I1233L probably damaging Het
Rb1cc1 T A 1: 6,333,441 (GRCm39) D68E probably benign Het
Rere C A 4: 150,699,331 (GRCm39) probably benign Het
Rnf213 A T 11: 119,321,100 (GRCm39) H1185L possibly damaging Het
Robo2 G T 16: 73,770,150 (GRCm39) P529T probably damaging Het
Robo2 G A 16: 73,770,149 (GRCm39) P529L probably damaging Het
Slc22a26 C T 19: 7,768,390 (GRCm39) probably benign Het
Slc43a1 T C 2: 84,690,450 (GRCm39) L456P probably damaging Het
Slc5a8 T C 10: 88,740,885 (GRCm39) Y267H probably damaging Het
Snrnp200 T C 2: 127,068,902 (GRCm39) I927T probably benign Het
Sorbs1 T C 19: 40,362,006 (GRCm39) D156G probably benign Het
Sox5 A T 6: 143,853,169 (GRCm39) S370T probably benign Het
Spen T C 4: 141,201,374 (GRCm39) T2418A probably damaging Het
St8sia6 A T 2: 13,701,705 (GRCm39) L104H probably damaging Het
Stox1 T A 10: 62,500,430 (GRCm39) N710I probably damaging Het
Syncrip T C 9: 88,344,900 (GRCm39) probably benign Het
Syt11 G A 3: 88,655,051 (GRCm39) P417S probably damaging Het
Taf2 A T 15: 54,910,849 (GRCm39) N608K probably benign Het
Tfcp2l1 G A 1: 118,596,447 (GRCm39) G394E possibly damaging Het
Tial1 A G 7: 128,056,715 (GRCm39) I13T probably damaging Het
Tmem108 T C 9: 103,361,981 (GRCm39) D535G probably benign Het
Tpp1 T C 7: 105,396,626 (GRCm39) M464V probably benign Het
Trrap C A 5: 144,757,063 (GRCm39) N2108K probably damaging Het
Tspan3 T C 9: 56,053,883 (GRCm39) D156G probably benign Het
Ttn C T 2: 76,592,607 (GRCm39) V20842I probably benign Het
Ubr4 T A 4: 139,190,886 (GRCm39) W4078R probably damaging Het
Uts2r G A 11: 121,051,795 (GRCm39) V220M possibly damaging Het
Vmn2r19 G A 6: 123,293,283 (GRCm39) probably null Het
Vmn2r3 A T 3: 64,166,673 (GRCm39) F819L probably damaging Het
Wdtc1 T C 4: 133,031,470 (GRCm39) Y250C probably damaging Het
Zan T C 5: 137,393,888 (GRCm39) H4521R unknown Het
Zfp219 A T 14: 52,244,224 (GRCm39) C652S 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
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
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'- AGGTATTTGCCCAATACACACAG -3'
(R):5'- GGAGAACATTTCAAATGGCTAACAG -3'

Sequencing Primer
(F):5'- TGTATCTCTTTTCCCATTGAATGC -3'
(R):5'- ATGTCCCTAAGTCCATGG -3'
Posted On 2021-08-31