Mutagenetix > Incidental Mutation

Incidental Mutation 'R6971:Shprh'

542254

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

045081-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6971 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11025171-11093339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 11042437 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 807 (I807F)

Ref Sequence

ENSEMBL: ENSMUSP00000125457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044053] [ENSMUST00000054814] [ENSMUST00000159541] [ENSMUST00000159810] [ENSMUST00000160461]

AlphaFold

Q7TPQ3

Predicted Effect

probably damaging
Transcript: ENSMUST00000044053
AA Change: I807F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: I807F

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: I807F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: I807F

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: I807F

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: I807F

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: I807F

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: I807F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000160461

SMART Domains

Protein: ENSMUSP00000125127
Gene: ENSMUSG00000090112

Domain	Start	End	E-Value	Type
PHD	131	178	2.33e-5	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.1%

Validation Efficiency

96% (47/49)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,000,903 (GRCm39)	T32S	possibly damaging	Het
2210408I21Rik	A	G	13: 77,341,306 (GRCm39)	S52G	possibly damaging	Het
Aadacl4	G	A	4: 144,349,303 (GRCm39)	V187M	probably damaging	Het
Adprhl1	T	A	8: 13,273,476 (GRCm39)	Q1094L	probably benign	Het
Amigo1	C	T	3: 108,095,452 (GRCm39)	S317L	probably benign	Het
Brca1	A	G	11: 101,424,831 (GRCm39)	F32L	probably benign	Het
C1qtnf7	T	A	5: 43,766,392 (GRCm39)		probably null	Het
Ccdc88c	A	T	12: 100,920,486 (GRCm39)	D378E	probably damaging	Het
Ccdc97	G	T	7: 25,414,384 (GRCm39)	Y123*	probably null	Het
Cdk10	T	A	8: 123,954,413 (GRCm39)	M46K	probably damaging	Het
Dsc3	A	G	18: 20,099,275 (GRCm39)		probably null	Het
Ephx3	T	A	17: 32,407,177 (GRCm39)	N254Y	possibly damaging	Het
Fnip2	G	A	3: 79,388,428 (GRCm39)	R768*	probably null	Het
Glra1	A	T	11: 55,427,325 (GRCm39)	Y3*	probably null	Het
Gltpd2	A	G	11: 70,411,290 (GRCm39)	T194A	probably damaging	Het
Hectd1	A	T	12: 51,795,526 (GRCm39)	L2301*	probably null	Het
Hmcn1	T	A	1: 150,868,802 (GRCm39)	M1L	probably benign	Het
Hmcn2	G	A	2: 31,322,333 (GRCm39)	E4133K	probably benign	Het
Hps3	A	T	3: 20,065,699 (GRCm39)	L714I	probably damaging	Het
Igfbpl1	A	G	4: 45,816,333 (GRCm39)	V164A	possibly damaging	Het
Ip6k2	T	C	9: 108,674,510 (GRCm39)		probably benign	Het
Itgb8	A	T	12: 119,154,366 (GRCm39)	Y224N	probably damaging	Het
Kcnt2	T	C	1: 140,440,646 (GRCm39)	L624S	probably benign	Het
Mdga2	A	G	12: 66,597,335 (GRCm39)	Y720H	probably damaging	Het
Mier2	G	A	10: 79,378,263 (GRCm39)	H385Y	possibly damaging	Het
Msl2	T	C	9: 100,978,042 (GRCm39)	F139L	probably benign	Het
Nuggc	T	C	14: 65,846,305 (GRCm39)	V72A	probably benign	Het
Or9k2b	A	T	10: 130,016,638 (GRCm39)	V37E	possibly damaging	Het
Pde2a	T	A	7: 101,159,520 (GRCm39)	Y783*	probably null	Het
Pfkfb2	A	G	1: 130,628,533 (GRCm39)	Y358H	probably damaging	Het
Pou2f1	A	G	1: 165,759,258 (GRCm39)	S23P	probably damaging	Het
Prrc2a	T	C	17: 35,378,477 (GRCm39)		probably null	Het
Prss36	T	C	7: 127,544,410 (GRCm39)	T92A	probably benign	Het
Rnft2	A	G	5: 118,332,635 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,895,868 (GRCm39)	V971A	possibly damaging	Het
Sec63	A	G	10: 42,659,438 (GRCm39)	E42G	probably damaging	Het
Setdb2	A	T	14: 59,653,189 (GRCm39)	L371Q	probably damaging	Het
Slc3a2	T	C	19: 8,686,974 (GRCm39)		probably null	Het
Srbd1	T	C	17: 86,406,718 (GRCm39)	I556V	possibly damaging	Het
Stim2	T	A	5: 54,275,641 (GRCm39)	C605*	probably null	Het
Tecrl	T	C	5: 83,502,649 (GRCm39)	T67A	possibly damaging	Het
Ttc33	C	A	15: 5,241,523 (GRCm39)	A116E	probably damaging	Het
Ttn	G	A	2: 76,772,393 (GRCm39)	T2503I	possibly damaging	Het
Ubp1	T	C	9: 113,801,831 (GRCm39)	I468T	probably damaging	Het
Urgcp	A	T	11: 5,668,115 (GRCm39)	H74Q	probably benign	Het
Vcan	A	G	13: 89,826,252 (GRCm39)	I2224T	probably damaging	Het
Vmn1r8	T	A	6: 57,013,400 (GRCm39)	N150K	probably damaging	Het
Vmn2r3	A	G	3: 64,166,668 (GRCm39)	M821T	probably damaging	Het
Zfp777	C	A	6: 48,001,625 (GRCm39)	A866S	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
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'- GGTGCTGCTTATTTCCCAGG -3'
(R):5'- GTCATACACACAGATATCCAAGTAGTC -3'

Sequencing Primer
(F):5'- GTGAAGAAACACGGCTTCTTAC -3'
(R):5'- GTAGTCCATACAAAACTATCATCCAG -3'

Posted On

2018-11-28