Mutagenetix > Incidental Mutation

Incidental Mutation 'R0053:Shprh'

64332

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

038347-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0053 (G1)

Quality Score

161

Status

Validated

Chromosome

Chromosomal Location

11025171-11093339 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to T at 11070116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000132870 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably null
Transcript: ENSMUST00000044053

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112

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

probably null
Transcript: ENSMUST00000054814

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112

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 null
Transcript: ENSMUST00000159541

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112

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

noncoding transcript
Transcript: ENSMUST00000159553

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.9%
20x: 96.5%

Validation Efficiency

100% (67/67)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ada	A	T	2: 163,574,212 (GRCm39)	V148D	probably damaging	Het
Alpi	T	C	1: 87,026,512 (GRCm39)	D493G	probably benign	Het
Atp10b	A	G	11: 43,107,391 (GRCm39)		probably benign	Het
AY761185	A	T	8: 21,434,546 (GRCm39)		probably benign	Het
Cadm1	C	T	9: 47,710,712 (GRCm39)	T205I	probably damaging	Het
Capn3	A	G	2: 120,322,318 (GRCm39)	I413V	possibly damaging	Het
Cblb	C	T	16: 51,963,164 (GRCm39)	T369I	probably damaging	Het
Ccdc54	T	A	16: 50,410,597 (GRCm39)	N223I	probably benign	Het
Cdc25c	A	G	18: 34,868,488 (GRCm39)	V294A	probably benign	Het
Cep170	A	T	1: 176,609,946 (GRCm39)	S122T	possibly damaging	Het
Chd1	A	G	17: 15,967,451 (GRCm39)	N849D	probably damaging	Het
Cspg4b	T	C	13: 113,505,023 (GRCm39)	W2051R	probably benign	Het
Dpp3	A	G	19: 4,973,154 (GRCm39)	C147R	probably damaging	Het
Dst	A	G	1: 34,333,631 (GRCm39)		probably null	Het
Fbxw9	T	A	8: 85,791,083 (GRCm39)	L250Q	probably damaging	Het
Gpr75	A	T	11: 30,842,571 (GRCm39)	Q492L	possibly damaging	Het
Gramd4	T	A	15: 86,014,339 (GRCm39)		probably benign	Het
Hivep2	T	C	10: 14,007,865 (GRCm39)	C1488R	probably damaging	Het
Hjurp	G	C	1: 88,204,937 (GRCm39)		probably benign	Het
Inava	C	T	1: 136,155,288 (GRCm39)	V106I	probably benign	Het
Insr	A	G	8: 3,205,683 (GRCm39)	S1369P	probably damaging	Het
Insrr	A	C	3: 87,707,759 (GRCm39)	D67A	probably damaging	Het
Irf2	T	A	8: 47,271,886 (GRCm39)	Y158N	probably benign	Het
Katnbl1	A	G	2: 112,234,586 (GRCm39)	R23G	probably benign	Het
Lamb2	T	A	9: 108,363,936 (GRCm39)	C987*	probably null	Het
Lzts2	T	C	19: 45,014,746 (GRCm39)		probably benign	Het
Mmp14	T	A	14: 54,676,109 (GRCm39)		probably benign	Het
Mycbpap	A	G	11: 94,402,562 (GRCm39)	Y258H	probably damaging	Het
Nav3	A	G	10: 109,602,778 (GRCm39)		probably benign	Het
Or10j7	T	C	1: 173,011,845 (GRCm39)	D52G	probably benign	Het
Or4c100	T	A	2: 88,356,507 (GRCm39)	N193K	probably damaging	Het
Parp10	T	A	15: 76,126,446 (GRCm39)	L247F	probably damaging	Het
Pcsk6	C	T	7: 65,633,451 (GRCm39)		probably benign	Het
Pgap3	A	T	11: 98,281,924 (GRCm39)	V129D	probably benign	Het
Pibf1	A	G	14: 99,377,993 (GRCm39)	Y373C	probably damaging	Het
Plcb1	A	G	2: 135,136,835 (GRCm39)	E310G	probably benign	Het
Plin3	T	C	17: 56,586,892 (GRCm39)	D385G	probably damaging	Het
Pole	A	T	5: 110,441,206 (GRCm39)	D220V	probably damaging	Het
Ptprk	T	A	10: 28,351,105 (GRCm39)	F533I	probably damaging	Het
Resf1	T	A	6: 149,229,088 (GRCm39)	D711E	probably benign	Het
Rufy1	A	T	11: 50,292,292 (GRCm39)	M499K	probably benign	Het
Scn1a	T	G	2: 66,130,119 (GRCm39)	D1232A	probably benign	Het
Sec23ip	T	C	7: 128,346,891 (GRCm39)	L49P	probably damaging	Het
Sf3b1	G	A	1: 55,039,532 (GRCm39)	Q698*	probably null	Het
Snd1	C	A	6: 28,745,334 (GRCm39)		probably benign	Het
Stab1	C	T	14: 30,862,644 (GRCm39)	A2260T	possibly damaging	Het
Stpg2	A	G	3: 138,918,082 (GRCm39)	Q60R	probably benign	Het
Strn	T	C	17: 78,964,363 (GRCm39)	H687R	possibly damaging	Het
Tgfb3	A	T	12: 86,124,603 (GRCm39)	I35N	probably damaging	Het
Tnks2	T	C	19: 36,852,765 (GRCm39)	S166P	probably damaging	Het
Tyw5	G	A	1: 57,440,597 (GRCm39)	T55M	probably damaging	Het
Usp19	A	G	9: 108,374,369 (GRCm39)		probably null	Het
Zfp13	A	T	17: 23,795,122 (GRCm39)	I483N	probably damaging	Het

Other mutations in Shprh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GAAGGTCTCATTGACCCGTTCTCAC -3'
(R):5'- GGCAGGGAAATGCAGTTCTTCAGC -3'

Sequencing Primer
(F):5'- CACCATGACTTGCCATGC -3'
(R):5'- GGAAATGCAGTTCTTCAGCTCTTAG -3'

Posted On

2013-08-06