Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:Shprh'

8058

Institutional Source

Beutler Lab

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

MMRRC Submission

038305-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

11025171-11093339 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11027675 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 94 (T94I)

Ref Sequence

ENSEMBL: ENSMUSP00000125457 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably benign
Transcript: ENSMUST00000044053
AA Change: T94I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: T94I

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 benign
Transcript: ENSMUST00000054814
AA Change: T94I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: T94I

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 benign
Transcript: ENSMUST00000159541
AA Change: T94I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: T94I

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 benign
Transcript: ENSMUST00000159810
AA Change: T94I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: T94I

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

noncoding transcript
Transcript: ENSMUST00000161858

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,940,250 (GRCm39)	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,431,143 (GRCm39)		probably benign	Het
Cd74	A	T	18: 60,942,143 (GRCm39)	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,161,696 (GRCm39)	E270G	probably benign	Het
Cldnd1	T	A	16: 58,551,622 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,803,997 (GRCm39)	L1112P	probably benign	Het
Evc2	T	A	5: 37,574,793 (GRCm39)	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,493,881 (GRCm39)	K16R	probably damaging	Het
Frem1	T	C	4: 82,918,335 (GRCm39)	I536V	probably benign	Het
Ginm1	T	C	10: 7,651,138 (GRCm39)		probably benign	Het
Glrb	A	T	3: 80,767,622 (GRCm39)		probably benign	Het
Glt6d1	C	A	2: 25,684,739 (GRCm39)		probably null	Het
Gm10320	T	C	13: 98,626,054 (GRCm39)	Y110C	probably damaging	Het
Intu	T	C	3: 40,608,702 (GRCm39)		probably benign	Het
Ltbp1	A	G	17: 75,670,386 (GRCm39)	T1476A	probably damaging	Het
Mcoln2	C	T	3: 145,889,316 (GRCm39)	T374M	probably damaging	Het
Mitf	A	G	6: 97,784,242 (GRCm39)	K33R	probably benign	Het
Nlgn1	G	T	3: 25,490,006 (GRCm39)		probably benign	Het
Nup133	A	T	8: 124,631,318 (GRCm39)	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380 (GRCm39)	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,643,774 (GRCm39)	E55D	probably damaging	Het
Scn8a	T	C	15: 100,911,454 (GRCm39)	V958A	probably damaging	Het
Sgk1	G	A	10: 21,873,337 (GRCm39)		probably null	Het
Smg1	A	T	7: 117,771,082 (GRCm39)		probably benign	Het
Spta1	G	A	1: 174,045,509 (GRCm39)	V1556I	probably benign	Het
Trappc14	T	C	5: 138,258,555 (GRCm39)		probably null	Het
Trappc4	G	A	9: 44,316,528 (GRCm39)		probably benign	Het
Txlna	T	G	4: 129,522,879 (GRCm39)	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,978,502 (GRCm39)	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,996,215 (GRCm39)	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,351,268 (GRCm39)	V127G	probably damaging	Het
Zfp608	A	T	18: 55,028,286 (GRCm39)		probably benign	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
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
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

Posted On

2012-11-20