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 11149427-11217595 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11185437 bp (GRCm38)
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
1700074P13Rik A T 6: 40,926,065 (GRCm38) Y124* probably null Het
4930455H04Rik C A 3: 116,968,471 (GRCm38) probably benign Het
Actn3 C T 19: 4,871,770 (GRCm38) probably null Het
Akap13 T A 7: 75,534,853 (GRCm38) probably null Het
Akap9 A T 5: 4,044,048 (GRCm38) Q2190L possibly damaging Het
Ankrd6 A T 4: 32,823,452 (GRCm38) V190D possibly damaging Het
Atrn T A 2: 130,999,237 (GRCm38) D1186E probably benign Het
Bank1 A T 3: 136,284,173 (GRCm38) V52E probably damaging Het
Blmh A G 11: 76,967,057 (GRCm38) N342D probably benign Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,098,691 (GRCm38) probably benign Het
Ces2f A G 8: 104,951,037 (GRCm38) T225A probably damaging Het
Clic6 G T 16: 92,499,357 (GRCm38) D302Y probably damaging Het
Clmn T A 12: 104,797,082 (GRCm38) N95I probably damaging Het
Cmya5 A T 13: 93,096,332 (GRCm38) F749L probably benign Het
Cramp1l A G 17: 24,983,982 (GRCm38) F358L probably damaging Het
Dhx38 T C 8: 109,556,466 (GRCm38) D573G probably damaging Het
Dync1h1 T C 12: 110,618,037 (GRCm38) Y625H probably damaging Het
Enpep A G 3: 129,321,358 (GRCm38) probably null Het
Fat1 T C 8: 45,030,313 (GRCm38) L3146P probably damaging Het
Gal3st2b G A 1: 93,940,848 (GRCm38) S265N probably benign Het
Glis3 G A 19: 28,665,866 (GRCm38) A92V possibly damaging Het
Gm13089 T C 4: 143,696,992 (GRCm38) Y409C probably damaging Het
Gm266 T C 12: 111,485,739 (GRCm38) D11G probably benign Het
Hmcn2 A T 2: 31,314,415 (GRCm38) M1L probably benign Het
Kcnj15 G A 16: 95,296,689 (GRCm38) probably benign Het
Krt27 A G 11: 99,348,725 (GRCm38) S310P probably damaging Het
Lama2 A T 10: 26,986,820 (GRCm38) D2982E probably damaging Het
Lrfn3 A G 7: 30,360,026 (GRCm38) V258A probably benign Het
Lrit3 A T 3: 129,800,544 (GRCm38) M128K probably damaging Het
Ltbp3 A G 19: 5,747,484 (GRCm38) T417A probably benign Het
Mettl25 T C 10: 105,765,261 (GRCm38) T554A probably benign Het
Micall1 A G 15: 79,126,998 (GRCm38) S523G probably damaging Het
Mmp21 G A 7: 133,678,971 (GRCm38) A90V probably benign Het
Mon2 T C 10: 123,059,205 (GRCm38) N53S probably benign Het
Mpp5 T A 12: 78,819,341 (GRCm38) D313E probably benign Het
Muc15 T C 2: 110,731,907 (GRCm38) probably null Het
Myo15b A T 11: 115,882,301 (GRCm38) M431L probably benign Het
Nicn1 C T 9: 108,294,509 (GRCm38) R163C possibly damaging Het
Nt5c3 T C 6: 56,884,716 (GRCm38) D195G probably damaging Het
Olfr401 T A 11: 74,122,048 (GRCm38) M253K probably benign Het
Olfr648 A G 7: 104,179,742 (GRCm38) L222P possibly damaging Het
Pgrmc2 A G 3: 41,082,690 (GRCm38) L102P probably damaging Het
Plekha1 T G 7: 130,900,511 (GRCm38) probably benign Het
Ralgapa1 T G 12: 55,702,560 (GRCm38) I1233L probably damaging Het
Rb1cc1 T A 1: 6,263,217 (GRCm38) D68E probably benign Het
Rere C A 4: 150,614,874 (GRCm38) probably benign Het
Rnf213 A T 11: 119,430,274 (GRCm38) H1185L possibly damaging Het
Robo2 G T 16: 73,973,262 (GRCm38) P529T probably damaging Het
Robo2 G A 16: 73,973,261 (GRCm38) P529L probably damaging Het
Slc22a26 C T 19: 7,791,025 (GRCm38) probably benign Het
Slc43a1 T C 2: 84,860,106 (GRCm38) L456P probably damaging Het
Slc5a8 T C 10: 88,905,023 (GRCm38) Y267H probably damaging Het
Snrnp200 T C 2: 127,226,982 (GRCm38) I927T probably benign Het
Sorbs1 T C 19: 40,373,562 (GRCm38) D156G probably benign Het
Sox5 A T 6: 143,907,443 (GRCm38) S370T probably benign Het
Spen T C 4: 141,474,063 (GRCm38) T2418A probably damaging Het
St8sia6 A T 2: 13,696,894 (GRCm38) L104H probably damaging Het
Stox1 T A 10: 62,664,651 (GRCm38) N710I probably damaging Het
Syncrip T C 9: 88,462,847 (GRCm38) probably benign Het
Syt11 G A 3: 88,747,744 (GRCm38) P417S probably damaging Het
Taf2 A T 15: 55,047,453 (GRCm38) N608K probably benign Het
Tfcp2l1 G A 1: 118,668,717 (GRCm38) G394E possibly damaging Het
Tial1 A G 7: 128,454,991 (GRCm38) I13T probably damaging Het
Tmem108 T C 9: 103,484,782 (GRCm38) D535G probably benign Het
Tpp1 T C 7: 105,747,419 (GRCm38) M464V probably benign Het
Trrap C A 5: 144,820,253 (GRCm38) N2108K probably damaging Het
Tspan3 T C 9: 56,146,599 (GRCm38) D156G probably benign Het
Ttn C T 2: 76,762,263 (GRCm38) V20842I probably benign Het
Ubr4 T A 4: 139,463,575 (GRCm38) W4078R probably damaging Het
Uts2r G A 11: 121,160,969 (GRCm38) V220M possibly damaging Het
Vmn2r19 G A 6: 123,316,324 (GRCm38) probably null Het
Vmn2r3 A T 3: 64,259,252 (GRCm38) F819L probably damaging Het
Wdtc1 T C 4: 133,304,159 (GRCm38) Y250C probably damaging Het
Zan T C 5: 137,395,626 (GRCm38) H4521R unknown Het
Zfp219 A T 14: 52,006,767 (GRCm38) C652S probably damaging Het
Other mutations in Shprh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00492:Shprh APN 10 11,188,158 (GRCm38) missense probably damaging 1.00
IGL00583:Shprh APN 10 11,188,020 (GRCm38) missense probably benign 0.37
IGL00684:Shprh APN 10 11,163,037 (GRCm38) missense probably benign 0.11
IGL01295:Shprh APN 10 11,183,868 (GRCm38) missense probably damaging 0.96
IGL01387:Shprh APN 10 11,170,254 (GRCm38) missense probably damaging 1.00
IGL01635:Shprh APN 10 11,170,019 (GRCm38) nonsense probably null
IGL01833:Shprh APN 10 11,191,062 (GRCm38) missense probably damaging 1.00
IGL02013:Shprh APN 10 11,181,502 (GRCm38) splice site probably benign
IGL02502:Shprh APN 10 11,194,357 (GRCm38) missense possibly damaging 0.66
IGL02819:Shprh APN 10 11,154,765 (GRCm38) missense possibly damaging 0.93
PIT4581001:Shprh UTSW 10 11,192,494 (GRCm38) frame shift probably null
R0010:Shprh UTSW 10 11,151,931 (GRCm38) missense probably benign
R0010:Shprh UTSW 10 11,151,931 (GRCm38) missense probably benign
R0053:Shprh UTSW 10 11,194,372 (GRCm38) splice site probably null
R0053:Shprh UTSW 10 11,194,372 (GRCm38) splice site probably null
R0255:Shprh UTSW 10 11,186,391 (GRCm38) missense possibly damaging 0.92
R0325:Shprh UTSW 10 11,170,109 (GRCm38) missense probably benign 0.00
R0331:Shprh UTSW 10 11,194,170 (GRCm38) splice site probably benign
R0494:Shprh UTSW 10 11,157,191 (GRCm38) missense probably damaging 1.00
R0532:Shprh UTSW 10 11,162,812 (GRCm38) missense possibly damaging 0.90
R0546:Shprh UTSW 10 11,183,887 (GRCm38) splice site probably benign
R0574:Shprh UTSW 10 11,163,077 (GRCm38) unclassified probably benign
R0605:Shprh UTSW 10 11,207,112 (GRCm38) missense probably damaging 1.00
R0662:Shprh UTSW 10 11,186,847 (GRCm38) missense probably damaging 1.00
R1148:Shprh UTSW 10 11,213,482 (GRCm38) missense possibly damaging 0.95
R1148:Shprh UTSW 10 11,213,482 (GRCm38) missense possibly damaging 0.95
R1263:Shprh UTSW 10 11,159,530 (GRCm38) missense probably damaging 1.00
R1588:Shprh UTSW 10 11,164,744 (GRCm38) missense probably damaging 1.00
R1638:Shprh UTSW 10 11,157,078 (GRCm38) missense probably benign
R1830:Shprh UTSW 10 11,186,911 (GRCm38) splice site probably null
R1898:Shprh UTSW 10 11,186,869 (GRCm38) missense probably damaging 1.00
R1903:Shprh UTSW 10 11,183,797 (GRCm38) nonsense probably null
R2060:Shprh UTSW 10 11,152,120 (GRCm38) missense probably benign 0.03
R2225:Shprh UTSW 10 11,162,235 (GRCm38) unclassified probably benign
R2363:Shprh UTSW 10 11,171,953 (GRCm38) missense probably damaging 1.00
R2509:Shprh UTSW 10 11,166,724 (GRCm38) missense probably damaging 1.00
R2891:Shprh UTSW 10 11,164,356 (GRCm38) missense probably damaging 1.00
R3077:Shprh UTSW 10 11,170,413 (GRCm38) missense probably damaging 1.00
R3150:Shprh UTSW 10 11,170,030 (GRCm38) missense probably damaging 0.97
R3796:Shprh UTSW 10 11,178,757 (GRCm38) missense possibly damaging 0.89
R4196:Shprh UTSW 10 11,207,860 (GRCm38) utr 3 prime probably benign
R4423:Shprh UTSW 10 11,186,518 (GRCm38) missense possibly damaging 0.82
R4488:Shprh UTSW 10 11,160,471 (GRCm38) missense probably benign 0.17
R4748:Shprh UTSW 10 11,170,476 (GRCm38) missense probably damaging 1.00
R4768:Shprh UTSW 10 11,181,540 (GRCm38) missense probably damaging 0.96
R4867:Shprh UTSW 10 11,164,557 (GRCm38) missense probably benign 0.00
R4937:Shprh UTSW 10 11,157,119 (GRCm38) missense probably benign
R5140:Shprh UTSW 10 11,154,705 (GRCm38) missense probably benign 0.03
R5318:Shprh UTSW 10 11,166,557 (GRCm38) missense probably benign 0.04
R5323:Shprh UTSW 10 11,170,297 (GRCm38) splice site probably null
R5450:Shprh UTSW 10 11,212,330 (GRCm38) missense possibly damaging 0.70
R5872:Shprh UTSW 10 11,188,073 (GRCm38) missense probably damaging 1.00
R6030:Shprh UTSW 10 11,151,991 (GRCm38) missense probably benign 0.37
R6030:Shprh UTSW 10 11,151,991 (GRCm38) missense probably benign 0.37
R6392:Shprh UTSW 10 11,178,741 (GRCm38) nonsense probably null
R6416:Shprh UTSW 10 11,167,873 (GRCm38) missense probably damaging 1.00
R6470:Shprh UTSW 10 11,171,937 (GRCm38) missense probably damaging 0.98
R6513:Shprh UTSW 10 11,186,893 (GRCm38) missense probably damaging 1.00
R6530:Shprh UTSW 10 11,194,267 (GRCm38) missense probably benign 0.02
R6678:Shprh UTSW 10 11,166,545 (GRCm38) missense probably benign 0.16
R6757:Shprh UTSW 10 11,181,508 (GRCm38) splice site probably null
R6971:Shprh UTSW 10 11,166,693 (GRCm38) missense probably damaging 1.00
R7158:Shprh UTSW 10 11,166,730 (GRCm38) missense probably damaging 0.98
R7582:Shprh UTSW 10 11,164,705 (GRCm38) missense probably benign
R7757:Shprh UTSW 10 11,162,180 (GRCm38) missense probably benign 0.30
R7812:Shprh UTSW 10 11,151,991 (GRCm38) missense probably benign
R7998:Shprh UTSW 10 11,185,341 (GRCm38) missense probably damaging 1.00
R8061:Shprh UTSW 10 11,212,333 (GRCm38) missense possibly damaging 0.71
R8082:Shprh UTSW 10 11,151,811 (GRCm38) missense probably benign 0.22
R8116:Shprh UTSW 10 11,213,461 (GRCm38) missense probably damaging 0.99
R8390:Shprh UTSW 10 11,187,983 (GRCm38) missense possibly damaging 0.92
R8445:Shprh UTSW 10 11,181,569 (GRCm38) missense possibly damaging 0.92
R8530:Shprh UTSW 10 11,151,934 (GRCm38) missense probably benign 0.37
R8759:Shprh UTSW 10 11,157,164 (GRCm38) missense possibly damaging 0.92
R8995:Shprh UTSW 10 11,164,830 (GRCm38) nonsense probably null
R9053:Shprh UTSW 10 11,154,702 (GRCm38) missense probably benign 0.04
R9131:Shprh UTSW 10 11,162,845 (GRCm38) missense possibly damaging 0.58
R9176:Shprh UTSW 10 11,160,576 (GRCm38) missense probably benign 0.02
R9391:Shprh UTSW 10 11,162,889 (GRCm38) missense probably benign 0.05
R9423:Shprh UTSW 10 11,205,263 (GRCm38) missense probably damaging 1.00
R9563:Shprh UTSW 10 11,166,491 (GRCm38) nonsense probably null
R9668:Shprh UTSW 10 11,206,332 (GRCm38) missense probably damaging 0.97
R9709:Shprh UTSW 10 11,162,830 (GRCm38) missense possibly damaging 0.91
R9718:Shprh UTSW 10 11,213,504 (GRCm38) missense probably damaging 1.00
R9750:Shprh UTSW 10 11,164,460 (GRCm38) missense probably damaging 0.98
RF012:Shprh UTSW 10 11,164,841 (GRCm38) missense probably benign 0.02
V8831:Shprh UTSW 10 11,186,862 (GRCm38) missense probably damaging 1.00
Z1176:Shprh UTSW 10 11,186,447 (GRCm38) missense probably damaging 1.00
Z1176:Shprh UTSW 10 11,164,553 (GRCm38) missense probably benign
Z1177:Shprh UTSW 10 11,151,762 (GRCm38) 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