Incidental Mutation 'R1830:Shprh'
ID 207245
Institutional Source Beutler Lab
Gene Symbol Shprh
Ensembl Gene ENSMUSG00000090112
Gene Name SNF2 histone linker PHD RING helicase
Synonyms 2610103K11Rik, D230017O13Rik
MMRRC Submission 039857-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1830 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 11025171-11093339 bp(+) (GRCm39)
Type of Mutation splice site (6 bp from exon)
DNA Base Change (assembly) T to C at 11062655 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000132870 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159541] [ENSMUST00000159810]
AlphaFold Q7TPQ3
Predicted Effect probably null
Transcript: ENSMUST00000044053
SMART Domains Protein: ENSMUSP00000039422
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
Pfam:Helicase_C 1500 1613 1.6e-8 PFAM
Predicted Effect probably null
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 null
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 null
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
Predicted Effect probably null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159553
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: 97.5%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.4%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,240,350 (GRCm39) S738P probably benign Het
Abi3bp C A 16: 56,408,348 (GRCm39) P261Q probably damaging Het
Adam19 A G 11: 46,018,105 (GRCm39) N389S probably damaging Het
Adgrv1 A T 13: 81,637,196 (GRCm39) V3415D possibly damaging Het
Ankrd33 A T 15: 101,017,432 (GRCm39) I282F probably damaging Het
Arhgap39 C T 15: 76,619,383 (GRCm39) V734M probably damaging Het
Arsg T C 11: 109,454,100 (GRCm39) probably null Het
Atp8b4 C T 2: 126,245,301 (GRCm39) G283R probably benign Het
B3galnt2 T G 13: 14,166,119 (GRCm39) L338* probably null Het
Cdc14a A T 3: 116,216,296 (GRCm39) Y1* probably null Het
Ceacam16 T C 7: 19,592,803 (GRCm39) E35G possibly damaging Het
Cfap46 T A 7: 139,220,323 (GRCm39) D1244V possibly damaging Het
Chordc1 T C 9: 18,223,274 (GRCm39) Y245H probably damaging Het
Col6a6 C A 9: 105,579,469 (GRCm39) V1919F probably damaging Het
Colgalt1 T C 8: 72,075,781 (GRCm39) V476A probably damaging Het
Cped1 T C 6: 22,237,727 (GRCm39) C948R probably damaging Het
Cyfip2 T C 11: 46,089,846 (GRCm39) D1189G probably damaging Het
Cyp27b1 T C 10: 126,884,952 (GRCm39) Y72H possibly damaging Het
Dagla A G 19: 10,248,378 (GRCm39) M94T probably benign Het
Dip2a A G 10: 76,153,797 (GRCm39) S178P probably damaging Het
Dlec1 T C 9: 118,967,858 (GRCm39) V1220A probably benign Het
Dpysl2 T C 14: 67,105,840 (GRCm39) probably benign Het
E2f6 T C 12: 16,868,884 (GRCm39) V69A probably benign Het
Fat3 T C 9: 15,826,636 (GRCm39) T4439A probably benign Het
Fn1 T C 1: 71,663,418 (GRCm39) I1023M probably damaging Het
Gabrr2 G A 4: 33,077,481 (GRCm39) V83M probably damaging Het
Gfral T C 9: 76,100,485 (GRCm39) N318D probably benign Het
Gm5611 A T 9: 16,942,073 (GRCm39) noncoding transcript Het
Gpat3 A T 5: 101,041,046 (GRCm39) M369L probably benign Het
Grik5 T C 7: 24,745,726 (GRCm39) D449G possibly damaging Het
Gucy2g T A 19: 55,211,362 (GRCm39) T623S possibly damaging Het
H2-T22 T C 17: 36,352,434 (GRCm39) T164A probably benign Het
Herc1 T A 9: 66,404,881 (GRCm39) C4484S possibly damaging Het
Hira T C 16: 18,766,164 (GRCm39) S659P probably damaging Het
Hoxa7 T C 6: 52,194,307 (GRCm39) T27A possibly damaging Het
Hoxd1 T C 2: 74,593,866 (GRCm39) S141P probably damaging Het
Kank1 C A 19: 25,388,396 (GRCm39) Q690K probably benign Het
Kera A G 10: 97,445,009 (GRCm39) K123E probably benign Het
Kifbp T C 10: 62,395,106 (GRCm39) Y512C probably damaging Het
Lepr A C 4: 101,592,874 (GRCm39) Y163S probably damaging Het
Leprotl1 T C 8: 34,607,922 (GRCm39) I29V probably benign Het
Lrriq1 T G 10: 102,997,620 (GRCm39) T1332P probably benign Het
Mrps15 A G 4: 125,949,200 (GRCm39) K223E probably damaging Het
Mrps7 T A 11: 115,497,811 (GRCm39) N225K probably benign Het
Nav3 T A 10: 109,659,184 (GRCm39) D811V probably damaging Het
Ndst3 T A 3: 123,342,587 (GRCm39) R741S probably damaging Het
Nos3 T C 5: 24,575,131 (GRCm39) Y356H probably damaging Het
Nxpe3 A G 16: 55,686,444 (GRCm39) V188A probably damaging Het
Or13n4 T C 7: 106,423,317 (GRCm39) R139G probably benign Het
Or5p50 T A 7: 107,422,578 (GRCm39) I33F probably benign Het
Or8j3b T C 2: 86,205,487 (GRCm39) K90E possibly damaging Het
Pdia4 A T 6: 47,773,695 (GRCm39) C551* probably null Het
Pex13 A G 11: 23,605,513 (GRCm39) F239S probably damaging Het
Pigq A G 17: 26,153,980 (GRCm39) M273T probably benign Het
Plppr2 C T 9: 21,859,047 (GRCm39) P388L probably damaging Het
Polr3b C T 10: 84,528,786 (GRCm39) Q737* probably null Het
Ppfibp1 T C 6: 146,923,757 (GRCm39) probably null Het
Ppfibp2 C A 7: 107,236,504 (GRCm39) D17E probably damaging Het
Pramel34 A T 5: 93,785,545 (GRCm39) I245K probably benign Het
Prr35 T C 17: 26,165,691 (GRCm39) D532G possibly damaging Het
Ptpn13 A G 5: 103,691,325 (GRCm39) D1064G probably benign Het
Qtrt2 A T 16: 43,692,018 (GRCm39) S168T probably damaging Het
Rbp3 T C 14: 33,676,601 (GRCm39) V183A probably benign Het
Slc39a10 T C 1: 46,875,230 (GRCm39) H24R probably damaging Het
Slc7a13 A T 4: 19,819,046 (GRCm39) H82L probably benign Het
Sptbn2 A G 19: 4,782,569 (GRCm39) I502V probably benign Het
Syne2 C T 12: 76,156,636 (GRCm39) R6811C probably damaging Het
Syt12 A G 19: 4,506,911 (GRCm39) V78A probably benign Het
Tbck T A 3: 132,543,772 (GRCm39) D874E probably benign Het
Tesc A T 5: 118,184,394 (GRCm39) I25L probably damaging Het
Thoc5 T G 11: 4,864,608 (GRCm39) D351E probably benign Het
Tor1aip1 A T 1: 155,883,308 (GRCm39) M180K probably damaging Het
Trps1 T C 15: 50,524,532 (GRCm39) S842G probably damaging Het
Unc79 A T 12: 103,100,737 (GRCm39) T1858S probably damaging Het
Vmn1r193 T C 13: 22,403,561 (GRCm39) T144A probably benign Het
Vwa8 T C 14: 79,318,576 (GRCm39) F1046S probably benign Het
Wdr26 A T 1: 181,019,340 (GRCm39) W346R probably damaging Het
Zfp740 T A 15: 102,116,336 (GRCm39) V22E probably damaging Het
Zw10 C A 9: 48,981,041 (GRCm39) S480R 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
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'- GGATCATGTGCTTGAAAACCATTTC -3'
(R):5'- ACATTTAGGTGTAGCTTCTATGGAG -3'

Sequencing Primer
(F):5'- CAAAATGCTGGGGATTTTTG -3'
(R):5'- GGCATGTTAAATCCCAAAGG -3'
Posted On 2014-06-23