Mutagenetix > Incidental Mutation

Incidental Mutation 'R9423:Shprh'

712441

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9423 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11025171-11093339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 11081007 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1524 (V1524A)

Ref Sequence

ENSEMBL: ENSMUSP00000039422 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044053
AA Change: V1524A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: V1524A

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 damaging
Transcript: ENSMUST00000054814
AA Change: V1524A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: V1524A

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: V1524A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: V1524A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (23/23)

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
Aatk	A	G	11: 119,901,520 (GRCm39)	S959P	probably damaging	Het
Abca13	T	C	11: 9,240,395 (GRCm39)	S753P	probably damaging	Het
Abcb10	A	G	8: 124,688,819 (GRCm39)	S486P		Het
Adamts19	G	T	18: 59,023,427 (GRCm39)	R274L	possibly damaging	Het
Ahcyl1	C	T	3: 107,578,476 (GRCm39)	E254K	probably damaging	Het
Ccdc177	T	G	12: 80,804,162 (GRCm39)	D704A	unknown	Het
Cd200r3	T	C	16: 44,771,895 (GRCm39)	V53A	probably benign	Het
Cdc42bpg	T	C	19: 6,363,329 (GRCm39)	L429P	probably damaging	Het
Cdh23	T	C	10: 60,148,387 (GRCm39)	D2660G	probably damaging	Het
Cfap61	G	T	2: 145,985,155 (GRCm39)	A1000S	probably damaging	Het
Col28a1	T	C	6: 7,999,601 (GRCm39)	T1039A	probably benign	Het
Ctsd	A	G	7: 141,939,212 (GRCm39)	L71P	probably damaging	Het
Dab2ip	C	T	2: 35,599,966 (GRCm39)	T251M	probably damaging	Het
Dcaf8	T	A	1: 172,007,524 (GRCm39)	I331N	probably damaging	Het
Dcp2	C	T	18: 44,538,361 (GRCm39)	R173C	probably damaging	Het
Dgka	C	T	10: 128,557,055 (GRCm39)	C640Y	probably damaging	Het
Entrep3	T	A	3: 89,092,007 (GRCm39)	L155Q	probably damaging	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gpr141	T	C	13: 19,935,995 (GRCm39)	N260S	probably benign	Het
Htr2a	T	A	14: 74,943,516 (GRCm39)	F365L	probably damaging	Het
Kdm5b	T	C	1: 134,515,705 (GRCm39)	Y110H	possibly damaging	Het
Ktn1	A	G	14: 47,912,318 (GRCm39)	T362A	probably benign	Het
Ltbp1	G	A	17: 75,597,112 (GRCm39)	S581N	probably benign	Het
Nr1h4	C	A	10: 89,309,688 (GRCm39)	R347L	possibly damaging	Het
Or4f60	A	T	2: 111,902,808 (GRCm39)	M40K	possibly damaging	Het
Or8g26	G	T	9: 39,095,838 (GRCm39)	M118I	probably damaging	Het
Parg	T	G	14: 31,939,662 (GRCm39)	F563V	probably damaging	Het
Pfkfb3	T	C	2: 11,487,276 (GRCm39)	Y378C	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Pitpnm2	A	C	5: 124,271,469 (GRCm39)	L368R	probably benign	Het
Pkd1l3	A	G	8: 110,350,312 (GRCm39)	T386A	possibly damaging	Het
Plch2	C	A	4: 155,071,049 (GRCm39)	C1110F		Het
Poc5	T	C	13: 96,547,114 (GRCm39)	V459A	probably damaging	Het
Pou4f3	T	C	18: 42,528,959 (GRCm39)	S301P	probably damaging	Het
Rpf2	T	C	10: 40,101,336 (GRCm39)	D233G	possibly damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Samd4b	A	G	7: 28,113,633 (GRCm39)	Y111H	probably benign	Het
Serpinb10	C	T	1: 107,466,179 (GRCm39)	T55M	probably benign	Het
Serpinb1a	C	T	13: 33,026,910 (GRCm39)	C344Y	probably benign	Het
Sirt1	T	C	10: 63,158,025 (GRCm39)	H463R	probably damaging	Het
Skor2	T	A	18: 76,948,300 (GRCm39)	L674Q	probably damaging	Het
Slc3a2	T	A	19: 8,690,189 (GRCm39)	K201M	possibly damaging	Het
Spata31h1	C	A	10: 82,123,459 (GRCm39)	V3184L	possibly damaging	Het
Stam	C	A	2: 14,146,564 (GRCm39)	Q421K	possibly damaging	Het
Steap4	G	A	5: 8,026,720 (GRCm39)	V228M	probably damaging	Het
Tacr3	A	G	3: 134,638,043 (GRCm39)	Y400C	probably benign	Het
Tecpr1	A	G	5: 144,155,396 (GRCm39)	V54A	probably damaging	Het
Tgm3	A	T	2: 129,880,527 (GRCm39)	E444D	probably benign	Het
Trim30a	A	T	7: 104,078,410 (GRCm39)	L222Q	probably damaging	Het
Trmt1l	T	C	1: 151,325,817 (GRCm39)	Y421H	possibly damaging	Het
Usp24	T	C	4: 106,288,867 (GRCm39)	F2500L	probably damaging	Het
Vmn2r54	T	A	7: 12,349,441 (GRCm39)	S714C	probably damaging	Het
Washc5	A	G	15: 59,227,735 (GRCm39)	I409T	probably benign	Het
Zfta	T	C	19: 7,397,624 (GRCm39)	L57P	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
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
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'- CCTTGGTGATAAACTCATTCATTTCTG -3'
(R):5'- AGGCCATTTCATTTATGAACGAATC -3'

Sequencing Primer
(F):5'- CTCATTCATTTCTGCAATTAGACAC -3'
(R):5'- CGAGTCTTAGCTCTACTTCA -3'

Posted On

2022-05-16