Mutagenetix > Incidental Mutation

Incidental Mutation 'R8759:Shprh'

671800

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

068718-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8759 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11157164 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 298 (V298G)

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810]

AlphaFold

Q7TPQ3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000044053
AA Change: V298G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: V298G

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000054814
AA Change: V298G

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: V298G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000159541
AA Change: V298G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: V298G

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000159810
AA Change: V298G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: V298G

Domain	Start	End	E-Value	Type
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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	C	8: 124,639,177 (GRCm38)	T276A	probably benign	Het
6030468B19Rik	T	C	11: 117,806,286 (GRCm38)	V237A	probably benign	Het
9530003J23Rik	T	A	10: 117,234,435 (GRCm38)	I146F	probably damaging	Het
Abca15	G	A	7: 120,407,408 (GRCm38)	V1632M	probably damaging	Het
Adamts18	G	A	8: 113,706,992 (GRCm38)	P1037S	probably damaging	Het
Apol7e	T	C	15: 77,717,865 (GRCm38)	V221A	probably benign	Het
Aqp4	T	G	18: 15,399,991 (GRCm38)	H15P	probably benign	Het
Atp6v0d2	T	A	4: 19,910,649 (GRCm38)	R80S	probably benign	Het
Cdh15	A	G	8: 122,860,889 (GRCm38)	D184G	probably damaging	Het
Cers3	G	A	7: 66,786,102 (GRCm38)	V270M	probably damaging	Het
Ces3a	A	G	8: 105,057,497 (GRCm38)	H443R	probably damaging	Het
Cntn1	T	G	15: 92,255,920 (GRCm38)	F485V	possibly damaging	Het
Cog6	A	G	3: 52,990,044 (GRCm38)	L536P	probably damaging	Het
Copa	A	G	1: 172,119,514 (GRCm38)	I1068M	probably benign	Het
Ddx50	T	C	10: 62,616,242 (GRCm38)	D734G	unknown	Het
Dgkz	T	C	2: 91,945,577 (GRCm38)	T114A	probably benign	Het
Dock2	A	T	11: 34,695,240 (GRCm38)	D538E	probably benign	Het
Drg1	T	C	11: 3,254,633 (GRCm38)	S198G	probably benign	Het
Epn3	C	A	11: 94,496,022 (GRCm38)	G174V	possibly damaging	Het
Ficd	G	T	5: 113,738,514 (GRCm38)	R250L	probably damaging	Het
Fmo2	A	G	1: 162,880,436 (GRCm38)	S377P	probably benign	Het
Gm17027	T	C	14: 42,159,294 (GRCm38)	I202V		Het
Gm7879	A	T	5: 43,913,657 (GRCm38)	N119I	probably benign	Het
H6pd	C	T	4: 149,982,301 (GRCm38)	V551I	probably benign	Het
Ighg1	A	T	12: 113,329,037 (GRCm38)	L304*	probably null	Het
Itga8	T	C	2: 12,262,129 (GRCm38)	D165G	probably damaging	Het
Lipt2	GGCGCCCGCGCGCG	GGCG	7: 100,159,681 (GRCm38)		probably null	Het
Lrrc37a	A	G	11: 103,457,940 (GRCm38)	V2643A	unknown	Het
Mast2	A	T	4: 116,435,560 (GRCm38)	F71Y	possibly damaging	Het
Mkrn1	C	A	6: 39,399,410 (GRCm38)	E421*	probably null	Het
Myo3a	G	T	2: 22,558,307 (GRCm38)	K969N	possibly damaging	Het
Nr1d1	G	C	11: 98,769,247 (GRCm38)	R484G	probably damaging	Het
Nrg1	C	A	8: 31,818,075 (GRCm38)	A686S	probably damaging	Het
Olfr671	T	C	7: 104,975,118 (GRCm38)	N293S	probably damaging	Het
Plxna4	T	A	6: 32,192,341 (GRCm38)	D1307V	probably damaging	Het
Ppp1r13l	G	T	7: 19,370,056 (GRCm38)	G154V	probably damaging	Het
Psmc5	A	G	11: 106,262,861 (GRCm38)	D382G	probably benign	Het
Ptch2	T	C	4: 117,110,433 (GRCm38)	L766P	probably damaging	Het
Rev1	A	C	1: 38,059,272 (GRCm38)	L730R	probably damaging	Het
Rin3	G	A	12: 102,373,602 (GRCm38)	V684I	probably damaging	Het
Secisbp2	G	A	13: 51,679,833 (GRCm38)	V670I	possibly damaging	Het
Sema6d	G	A	2: 124,655,214 (GRCm38)	C136Y	probably damaging	Het
Slc37a4	C	T	9: 44,402,335 (GRCm38)	T386I	probably benign	Het
Slc4a3	T	C	1: 75,554,638 (GRCm38)	I825T	probably damaging	Het
Spta1	C	T	1: 174,213,374 (GRCm38)	L1247F	probably damaging	Het
Tigar	A	T	6: 127,091,257 (GRCm38)	I66K	probably benign	Het
Tln2	T	C	9: 67,367,218 (GRCm38)	Y376C	probably damaging	Het
Tmem199	T	A	11: 78,507,807 (GRCm38)		probably benign	Het
Tnc	G	A	4: 64,006,264 (GRCm38)	R1066C	possibly damaging	Het
Ubqlnl	T	A	7: 104,149,999 (GRCm38)	H97L	probably damaging	Het
Vmn1r13	A	G	6: 57,210,539 (GRCm38)	T228A	probably damaging	Het
Xab2	T	C	8: 3,611,672 (GRCm38)	T594A	probably benign	Het
Zc3h18	A	G	8: 122,411,385 (GRCm38)	E687G	unknown	Het
Zfp831	A	G	2: 174,646,081 (GRCm38)	T850A	probably benign	Het

Other mutations in Shprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R8937:Shprh	UTSW	10	11,185,437 (GRCm38)	missense	possibly damaging	0.60
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'- TTAGGGGTGAGACCAATCCAG -3'
(R):5'- ATGATTACTTGCCGTCACCC -3'

Sequencing Primer
(F):5'- TGTGGCTTACAATGCAGACTC -3'
(R):5'- TTGCCGTCACCCCAATACATG -3'

Posted On

2021-04-30