Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01635:Shprh'

92954

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shprh

Ensembl Gene

ENSMUSG00000090112

Gene Name

SNF2 histone linker PHD RING helicase

Synonyms

2610103K11Rik, D230017O13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01635

Quality Score

Status

Chromosome

Chromosomal Location

11149427-11217595 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 11170019 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 861 (Y861*)

Ref Sequence

ENSEMBL: ENSMUSP00000125457 (fasta)

Gene Model

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

AlphaFold

Q7TPQ3

Predicted Effect

probably null
Transcript: ENSMUST00000044053
AA Change: Y861*

SMART Domains

Protein: ENSMUSP00000039422
Gene: ENSMUSG00000090112
AA Change: Y861*

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
AA Change: Y861*

SMART Domains

Protein: ENSMUSP00000125849
Gene: ENSMUSG00000090112
AA Change: Y861*

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
AA Change: Y861*

SMART Domains

Protein: ENSMUSP00000132870
Gene: ENSMUSG00000090112
AA Change: Y861*

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

Predicted Effect

probably null
Transcript: ENSMUST00000159810
AA Change: Y861*

SMART Domains

Protein: ENSMUSP00000125457
Gene: ENSMUSG00000090112
AA Change: Y861*

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

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	T	C	19: 23,559,015 (GRCm38)	Y176C	probably damaging	Het
Abat	A	G	16: 8,614,046 (GRCm38)	I396V	probably benign	Het
Bag2	T	A	1: 33,746,932 (GRCm38)	N103I	possibly damaging	Het
Chd1	T	C	17: 17,378,596 (GRCm38)	S107P	probably damaging	Het
Chd3	A	T	11: 69,361,250 (GRCm38)		probably benign	Het
Cytip	T	C	2: 58,148,231 (GRCm38)	E106G	probably damaging	Het
Dcp1b	T	A	6: 119,206,537 (GRCm38)	I195N	probably damaging	Het
Ddhd1	C	A	14: 45,629,580 (GRCm38)	V322F	probably null	Het
Esrrg	A	T	1: 188,198,600 (GRCm38)	D296V	probably damaging	Het
F5	A	G	1: 164,207,858 (GRCm38)	K1867R	probably benign	Het
Gm10717	C	A	9: 3,025,511 (GRCm38)	A32D	probably damaging	Het
Gm10717	C	A	9: 3,025,506 (GRCm38)	F30L	possibly damaging	Het
Gm3550	A	T	18: 34,737,742 (GRCm38)	M110L	probably benign	Het
Gstt1	G	T	10: 75,794,117 (GRCm38)	T54K	probably damaging	Het
Ighmbp2	C	T	19: 3,267,265 (GRCm38)	V536I	possibly damaging	Het
Mphosph8	A	T	14: 56,672,546 (GRCm38)	R119W	probably damaging	Het
Negr1	A	G	3: 156,562,292 (GRCm38)	D33G	probably benign	Het
Olfr168	A	G	16: 19,530,095 (GRCm38)	V275A	probably benign	Het
Olfr77	A	T	9: 19,920,484 (GRCm38)	I92L	probably damaging	Het
Plbd2	T	C	5: 120,499,049 (GRCm38)	D116G	probably damaging	Het
Pold1	A	T	7: 44,535,977 (GRCm38)	V733E	probably damaging	Het
Prorsd1	T	A	11: 29,513,467 (GRCm38)	K98N	probably benign	Het
Rasal2	G	T	1: 157,163,824 (GRCm38)	L611I	probably damaging	Het
Rffl	G	A	11: 82,812,552 (GRCm38)	R147C	probably benign	Het
Sdad1	A	G	5: 92,297,160 (GRCm38)	M315T	probably damaging	Het
Six4	G	A	12: 73,109,197 (GRCm38)	A324V	probably benign	Het
Stab2	T	C	10: 86,981,128 (GRCm38)	D135G	probably benign	Het
Tada3	T	C	6: 113,376,012 (GRCm38)	H12R	probably benign	Het
Zap70	A	G	1: 36,771,157 (GRCm38)	D116G	probably damaging	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
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
R8759:Shprh	UTSW	10	11,157,164 (GRCm38)	missense	possibly damaging	0.92
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

Posted On

2013-12-09