Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02735:Shisa5'

305599

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shisa5

Ensembl Gene

ENSMUSG00000025647

Gene Name

shisa family member 5

Synonyms

6430628I05Rik, Scotin, 2310008D10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02735

Quality Score

Status

Chromosome

Chromosomal Location

108867633-108886845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 108885080 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 118 (F118V)

Ref Sequence

ENSEMBL: ENSMUSP00000107690 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026737] [ENSMUST00000045011] [ENSMUST00000061973] [ENSMUST00000112053] [ENSMUST00000112059] [ENSMUST00000128062] [ENSMUST00000154184] [ENSMUST00000196954] [ENSMUST00000198295] [ENSMUST00000197483] [ENSMUST00000198376] [ENSMUST00000197689] [ENSMUST00000197099] [ENSMUST00000160217] [ENSMUST00000159614] [ENSMUST00000161521] [ENSMUST00000198281] [ENSMUST00000200629] [ENSMUST00000198708] [ENSMUST00000200515]

AlphaFold

Q9D7I0

Predicted Effect

probably benign
Transcript: ENSMUST00000026737
AA Change: F117V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647
AA Change: F117V

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:Shisa	24	211	1.3e-59	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000045011

SMART Domains

Protein: ENSMUSP00000044831
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	96	193	8e-3	SMART
low complexity region	326	338	N/A	INTRINSIC
low complexity region	542	548	N/A	INTRINSIC
low complexity region	555	566	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	761	779	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061973

SMART Domains

Protein: ENSMUSP00000050971
Gene: ENSMUSG00000049734

Domain	Start	End	E-Value	Type
EXOIII	13	217	2.45e-13	SMART
low complexity region	248	283	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112053

SMART Domains

Protein: ENSMUSP00000107684
Gene: ENSMUSG00000049734

Domain	Start	End	E-Value	Type
EXOIII	13	217	2.45e-13	SMART
low complexity region	248	283	N/A	INTRINSIC
transmembrane domain	287	309	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000112059
AA Change: F118V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647
AA Change: F118V

Domain	Start	End	E-Value	Type
low complexity region	11	22	N/A	INTRINSIC
Pfam:Shisa	26	198	1.1e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128062

SMART Domains

Protein: ENSMUSP00000118499
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
PDB:3MXJ\|A	1	150	4e-97	PDB
SCOP:d1fxxa_	12	146	7e-12	SMART
Blast:EXOIII	13	150	1e-85	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000154184
AA Change: F14V

SMART Domains

Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647
AA Change: F14V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	108	1.6e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196954
AA Change: F15V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	95	1.9e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198295
AA Change: F15V

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

SMART Domains

Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	70	1.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197483
AA Change: F15V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	95	1.9e-30	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000198376
AA Change: F15V

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

SMART Domains

Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	83	5e-29	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000197689
AA Change: F15V

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

SMART Domains

Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	63	4.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000197099
AA Change: F49V

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

SMART Domains

Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647
AA Change: F49V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	129	9.9e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160928

SMART Domains

Protein: ENSMUSP00000123837
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	19	116	9e-3	SMART
low complexity region	249	261	N/A	INTRINSIC
low complexity region	465	471	N/A	INTRINSIC
low complexity region	478	489	N/A	INTRINSIC
low complexity region	521	532	N/A	INTRINSIC
low complexity region	684	702	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198591

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197194

Predicted Effect

probably benign
Transcript: ENSMUST00000160217

SMART Domains

Protein: ENSMUSP00000125264
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
SCOP:d1eq1a_	96	193	3e-3	SMART
low complexity region	326	338	N/A	INTRINSIC
low complexity region	533	550	N/A	INTRINSIC
low complexity region	570	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159614

SMART Domains

Protein: ENSMUSP00000124854
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
low complexity region	54	60	N/A	INTRINSIC
low complexity region	67	78	N/A	INTRINSIC
low complexity region	110	121	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161521

SMART Domains

Protein: ENSMUSP00000125615
Gene: ENSMUSG00000025646

Domain	Start	End	E-Value	Type
coiled coil region	108	208	N/A	INTRINSIC
low complexity region	326	338	N/A	INTRINSIC
low complexity region	542	548	N/A	INTRINSIC
low complexity region	555	566	N/A	INTRINSIC
low complexity region	598	609	N/A	INTRINSIC
low complexity region	734	752	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198281

SMART Domains

Protein: ENSMUSP00000143581
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	16	74	2.1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000200629
AA Change: F15V

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

SMART Domains

Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	72	1.9e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198708
AA Change: F15V

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647
AA Change: F15V

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	109	7.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200515
AA Change: F53V

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

SMART Domains

Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647
AA Change: F53V

Domain	Start	End	E-Value	Type
Pfam:Shisa	11	147	4.1e-42	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000199868
AA Change: F18V

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200366

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198639

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the shisa family. The encoded protein is localized to the endoplasmic reticulum, and together with p53 induces apoptosis in a caspase-dependent manner. Alternative splicing results in multiple transcript variants. Related pseudogenes of this gene are found on chromosome X. [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and exhibit no apparent phenotype. [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
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
Acss1	A	T	2: 150,480,387 (GRCm39)	V228E	probably damaging	Het
Ampd1	T	A	3: 102,992,693 (GRCm39)	M145K	probably damaging	Het
Ankhd1	G	A	18: 36,781,599 (GRCm39)	S2217N	probably benign	Het
Asph	T	A	4: 9,598,759 (GRCm39)	D211V	probably damaging	Het
Cd55b	A	T	1: 130,316,413 (GRCm39)	W379R	probably damaging	Het
Derl3	A	G	10: 75,730,950 (GRCm39)	T201A	probably damaging	Het
Efcab6	A	G	15: 83,783,898 (GRCm39)	L1008P	probably damaging	Het
Eif4g3	A	G	4: 137,853,522 (GRCm39)	I363V	probably benign	Het
Heatr5a	A	G	12: 51,961,804 (GRCm39)	F1058L	probably damaging	Het
Hmcn1	A	T	1: 150,522,583 (GRCm39)	M3439K	probably benign	Het
Ift140	C	A	17: 25,253,009 (GRCm39)		probably benign	Het
Itgad	A	G	7: 127,792,888 (GRCm39)	Y832C	probably damaging	Het
Itgb2	T	A	10: 77,385,833 (GRCm39)	D265E	possibly damaging	Het
Kif19a	A	T	11: 114,676,393 (GRCm39)	E449V	probably damaging	Het
Krt40	T	C	11: 99,429,461 (GRCm39)	E291G	probably damaging	Het
Lama2	T	C	10: 26,980,124 (GRCm39)	N1897S	probably damaging	Het
Lepr	A	G	4: 101,639,835 (GRCm39)	Y767C	probably damaging	Het
Lrrtm4	A	G	6: 80,786,031 (GRCm39)	H546R	probably benign	Het
Marchf6	A	G	15: 31,486,266 (GRCm39)	S362P	probably benign	Het
Med12l	A	G	3: 59,001,067 (GRCm39)	Y734C	probably damaging	Het
Mrps18a	C	T	17: 46,433,725 (GRCm39)	R74C	probably damaging	Het
Mvk	A	G	5: 114,588,880 (GRCm39)	E174G	probably benign	Het
Naip2	A	G	13: 100,296,722 (GRCm39)	S1105P	probably damaging	Het
Nrxn3	A	G	12: 89,221,624 (GRCm39)	M468V	probably benign	Het
Obscn	T	C	11: 58,984,175 (GRCm39)	E1760G	probably damaging	Het
Pcsk5	C	A	19: 17,652,832 (GRCm39)	G285W	probably damaging	Het
Pgpep1l	A	G	7: 67,886,721 (GRCm39)	I196T	probably benign	Het
Phf14	T	C	6: 11,987,611 (GRCm39)	M630T	probably benign	Het
Plod2	T	C	9: 92,477,442 (GRCm39)		probably benign	Het
Poldip2	G	A	11: 78,403,162 (GRCm39)	A9T	probably benign	Het
Pou2f1	A	G	1: 165,703,396 (GRCm39)	S718P	probably damaging	Het
Pramel34	G	A	5: 93,786,503 (GRCm39)	P89S	possibly damaging	Het
Ptpre	A	T	7: 135,269,296 (GRCm39)	Y246F	probably damaging	Het
Pudp	T	C	18: 50,701,403 (GRCm39)	H110R	probably benign	Het
Scaf4	C	T	16: 90,042,403 (GRCm39)	G646E	unknown	Het
Sec16a	T	A	2: 26,318,149 (GRCm39)		probably benign	Het
Serpina5	A	G	12: 104,070,116 (GRCm39)	T338A	probably benign	Het
Slc6a21	G	A	7: 44,936,061 (GRCm39)		probably benign	Het
Sprtn	T	A	8: 125,630,126 (GRCm39)	V473E	probably benign	Het
Styxl1	A	G	5: 135,787,996 (GRCm39)	I165T	probably damaging	Het
Tal2	T	A	4: 53,785,906 (GRCm39)	I29N	probably damaging	Het
Tas2r134	T	C	2: 51,517,839 (GRCm39)	I106T	probably damaging	Het
Tmem259	G	A	10: 79,814,973 (GRCm39)	T217I	probably damaging	Het
Trpc6	T	C	9: 8,655,339 (GRCm39)	I723T	probably damaging	Het
Vmn1r211	A	T	13: 23,036,418 (GRCm39)	V83D	probably damaging	Het
Vmn2r103	G	T	17: 20,032,510 (GRCm39)	M761I	probably benign	Het
Ybey	A	T	10: 76,304,160 (GRCm39)	I14N	probably damaging	Het

Other mutations in Shisa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02989:Shisa5	APN	9	108,885,062 (GRCm39)	missense	probably damaging	1.00
IGL03169:Shisa5	APN	9	108,885,560 (GRCm39)	missense	probably damaging	1.00
R1809:Shisa5	UTSW	9	108,869,998 (GRCm39)	missense	probably damaging	0.99
R1813:Shisa5	UTSW	9	108,885,108 (GRCm39)	missense	probably damaging	0.99
R1896:Shisa5	UTSW	9	108,885,108 (GRCm39)	missense	probably damaging	0.99
R2516:Shisa5	UTSW	9	108,885,575 (GRCm39)	critical splice donor site	probably null
R4706:Shisa5	UTSW	9	108,885,128 (GRCm39)	missense	probably null	0.99
R5800:Shisa5	UTSW	9	108,885,162 (GRCm39)	critical splice donor site	probably null
R5935:Shisa5	UTSW	9	108,885,751 (GRCm39)	missense	possibly damaging	0.68
R7299:Shisa5	UTSW	9	108,883,952 (GRCm39)	intron	probably benign
R7301:Shisa5	UTSW	9	108,883,952 (GRCm39)	intron	probably benign
R9467:Shisa5	UTSW	9	108,867,712 (GRCm39)	unclassified	probably benign

Posted On

2015-04-16