Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00950:Sharpin'

29080

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sharpin

Ensembl Gene

ENSMUSG00000022552

Gene Name

SHANK-associated RH domain interacting protein

Synonyms

SIPL1, 0610041B22Rik, cpdm

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.254) question?

Stock #

IGL00950

Quality Score

Status

Chromosome

Chromosomal Location

76231240-76235310 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76232424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 171 (E171G)

Ref Sequence

ENSEMBL: ENSMUSP00000023211 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023210] [ENSMUST00000023211] [ENSMUST00000023212] [ENSMUST00000160560] [ENSMUST00000160853] [ENSMUST00000160172] [ENSMUST00000160914] [ENSMUST00000161527] [ENSMUST00000230314] [ENSMUST00000230706] [ENSMUST00000231045] [ENSMUST00000229013]

AlphaFold

Q91WA6

Predicted Effect

probably benign
Transcript: ENSMUST00000023210

SMART Domains

Protein: ENSMUSP00000023210
Gene: ENSMUSG00000022551

Domain	Start	End	E-Value	Type
low complexity region	17	32	N/A	INTRINSIC
transmembrane domain	59	81	N/A	INTRINSIC
Pfam:Cytochrom_C1	96	314	1.5e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000023211
AA Change: E171G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000023211
Gene: ENSMUSG00000022552
AA Change: E171G

Domain	Start	End	E-Value	Type
Pfam:Sharpin_PH	13	125	1.2e-44	PFAM
low complexity region	187	202	N/A	INTRINSIC
PDB:4DBG\|A	203	299	1e-17	PDB
SCOP:d1euvb_	212	301	2e-5	SMART
Blast:UBQ	218	299	2e-26	BLAST
ZnF_RBZ	343	367	9.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000023212

SMART Domains

Protein: ENSMUSP00000023212
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.8e-69	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133993

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144816

Predicted Effect

unknown
Transcript: ENSMUST00000160560
AA Change: S113G

SMART Domains

Protein: ENSMUSP00000125382
Gene: ENSMUSG00000022552
AA Change: S113G

Domain	Start	End	E-Value	Type
low complexity region	2	23	N/A	INTRINSIC
PDB:4EMO\|D	24	62	2e-13	PDB
low complexity region	64	81	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154477

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147001

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160857

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161391

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160097

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152151

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160069

Predicted Effect

probably benign
Transcript: ENSMUST00000160853

SMART Domains

Protein: ENSMUSP00000124893
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	25	202	4.6e-67	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160172

SMART Domains

Protein: ENSMUSP00000124242
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.7e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160914

SMART Domains

Protein: ENSMUSP00000124110
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
low complexity region	33	48	N/A	INTRINSIC
Pfam:Maf1	84	202	4.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159429

SMART Domains

Protein: ENSMUSP00000124755
Gene: ENSMUSG00000022552

Domain	Start	End	E-Value	Type
ZnF_RBZ	46	70	9.65e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161527

SMART Domains

Protein: ENSMUSP00000125387
Gene: ENSMUSG00000022553

Domain	Start	End	E-Value	Type
Pfam:Maf1	24	202	2.8e-69	PFAM
low complexity region	215	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161786

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162865

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162871

Predicted Effect

unknown
Transcript: ENSMUST00000230314
AA Change: S113G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229946

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230016

Predicted Effect

probably benign
Transcript: ENSMUST00000230706

Predicted Effect

probably benign
Transcript: ENSMUST00000231045

Predicted Effect

probably benign
Transcript: ENSMUST00000229013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229710

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229292

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mutations in this gene produces chronic skin lesions. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(2) Spontaneous(2)

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts17	T	C	7: 66,770,660 (GRCm39)	V923A	possibly damaging	Het
Als2	G	A	1: 59,254,541 (GRCm39)	A272V	probably benign	Het
Aoc1l1	A	C	6: 48,955,065 (GRCm39)	N635T	possibly damaging	Het
Chrne	C	T	11: 70,509,983 (GRCm39)		probably benign	Het
Dhx34	C	T	7: 15,933,751 (GRCm39)	R947H	probably damaging	Het
Dnah7b	A	T	1: 46,253,482 (GRCm39)	M1796L	probably benign	Het
Dstyk	C	T	1: 132,387,726 (GRCm39)	T820I	probably damaging	Het
Eif4g1	A	G	16: 20,502,378 (GRCm39)	K942E	probably damaging	Het
Fbn1	C	T	2: 125,200,743 (GRCm39)	G1318E	probably damaging	Het
Galnt5	T	C	2: 57,889,144 (GRCm39)	V248A	probably benign	Het
Gcnt4	A	G	13: 97,083,064 (GRCm39)	Y120C	probably damaging	Het
Gdf5	A	G	2: 155,783,626 (GRCm39)	V442A	probably damaging	Het
H2-Q4	A	C	17: 35,601,834 (GRCm39)	D232A	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Htt	A	G	5: 35,048,785 (GRCm39)	I2423V	probably benign	Het
Itk	T	A	11: 46,258,723 (GRCm39)	I60F	probably damaging	Het
Izumo1	T	A	7: 45,272,295 (GRCm39)	C25*	probably null	Het
Katnip	T	A	7: 125,442,393 (GRCm39)	D767E	probably benign	Het
Lamc1	G	T	1: 153,116,241 (GRCm39)	P980H	probably damaging	Het
Ncor2	C	A	5: 125,163,954 (GRCm39)	R367L	unknown	Het
Pcdhb17	A	T	18: 37,619,059 (GRCm39)		probably null	Het
Rnf123	C	A	9: 107,944,594 (GRCm39)		probably null	Het
Sh3bgrl2	T	A	9: 83,459,543 (GRCm39)	F34I	probably damaging	Het
Slc22a30	A	T	19: 8,313,152 (GRCm39)	D544E	probably benign	Het
Slc36a1	T	C	11: 55,116,954 (GRCm39)	C328R	probably damaging	Het
Sntg2	T	C	12: 30,362,680 (GRCm39)		probably benign	Het
Sox13	A	G	1: 133,314,844 (GRCm39)	V272A	probably benign	Het
Sppl2b	T	G	10: 80,699,928 (GRCm39)	L37R	probably damaging	Het
Strip1	T	A	3: 107,528,761 (GRCm39)	S390C	probably damaging	Het
Stxbp5	T	A	10: 9,684,346 (GRCm39)		probably benign	Het
Supt16	T	C	14: 52,399,255 (GRCm39)	E1008G	possibly damaging	Het
Vmn1r174	C	A	7: 23,453,911 (GRCm39)	H192Q	possibly damaging	Het
Vsir	C	T	10: 60,200,063 (GRCm39)	Q154*	probably null	Het
Xrn2	A	T	2: 146,870,066 (GRCm39)	R252*	probably null	Het

Other mutations in Sharpin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0012:Sharpin	UTSW	15	76,232,543 (GRCm39)	missense	possibly damaging	0.88
R0012:Sharpin	UTSW	15	76,232,543 (GRCm39)	missense	possibly damaging	0.88
R1733:Sharpin	UTSW	15	76,232,136 (GRCm39)	missense	probably benign	0.00
R1735:Sharpin	UTSW	15	76,232,136 (GRCm39)	missense	probably benign	0.00
R2051:Sharpin	UTSW	15	76,232,407 (GRCm39)	missense	probably benign	0.02
R2172:Sharpin	UTSW	15	76,234,866 (GRCm39)	unclassified	probably benign
R2909:Sharpin	UTSW	15	76,234,811 (GRCm39)	unclassified	probably benign
R4749:Sharpin	UTSW	15	76,231,767 (GRCm39)	missense	probably damaging	0.99
R5027:Sharpin	UTSW	15	76,234,225 (GRCm39)	unclassified	probably benign
R5050:Sharpin	UTSW	15	76,232,530 (GRCm39)	missense	probably damaging	1.00
R5062:Sharpin	UTSW	15	76,231,811 (GRCm39)	unclassified	probably benign
R5172:Sharpin	UTSW	15	76,231,741 (GRCm39)	missense	probably benign	0.02
R5428:Sharpin	UTSW	15	76,234,866 (GRCm39)	unclassified	probably benign
R5610:Sharpin	UTSW	15	76,234,253 (GRCm39)	critical splice donor site	probably null
R8110:Sharpin	UTSW	15	76,231,965 (GRCm39)	missense	possibly damaging	0.80
R8358:Sharpin	UTSW	15	76,232,197 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-04-17