Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02989:Shisa5'

406839

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 #

IGL02989

Quality Score

Status

Chromosome

Chromosomal Location

108867633-108886845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 108885062 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 112 (A112T)

Ref Sequence

ENSEMBL: ENSMUSP00000107690 (fasta)

Gene Model

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

AlphaFold

Q9D7I0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026737
AA Change: A111T

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

SMART Domains

Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647
AA Change: A111T

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: A112T

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

SMART Domains

Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647
AA Change: A112T

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: A8T

SMART Domains

Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647
AA Change: A8T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197099
AA Change: A43T

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647
AA Change: A43T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196954
AA Change: A9T

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198295
AA Change: A9T

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

SMART Domains

Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197483
AA Change: A9T

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000198376
AA Change: A9T

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

SMART Domains

Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000197689
AA Change: A9T

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

SMART Domains

Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161163

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198591

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: ENSMUST00000197194

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 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: 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: 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 damaging
Transcript: ENSMUST00000200629
AA Change: A9T

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

SMART Domains

Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000198708
AA Change: A9T

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647
AA Change: A9T

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

Predicted Effect

unknown
Transcript: ENSMUST00000199868
AA Change: A12T

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200515
AA Change: A47T

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647
AA Change: A47T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198639

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200366

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a1	T	A	19: 20,617,422 (GRCm39)		probably benign	Het
Arhgap15	A	G	2: 43,670,748 (GRCm39)	D44G	probably damaging	Het
Arhgap35	A	T	7: 16,231,580 (GRCm39)	*1500R	probably null	Het
Arid1b	A	G	17: 5,385,322 (GRCm39)	Y1413C	probably damaging	Het
Atf6	A	G	1: 170,616,252 (GRCm39)		probably benign	Het
Cant1	T	C	11: 118,302,038 (GRCm39)	Y93C	probably damaging	Het
Cat	A	G	2: 103,303,318 (GRCm39)	F153S	probably damaging	Het
Ccdc187	G	A	2: 26,166,443 (GRCm39)	R712W	possibly damaging	Het
Clpb	T	C	7: 101,428,427 (GRCm39)	S396P	probably damaging	Het
Cntnap5a	A	G	1: 116,339,813 (GRCm39)		probably benign	Het
Dap3	G	A	3: 88,837,878 (GRCm39)		probably benign	Het
Dnah6	T	A	6: 73,046,403 (GRCm39)	D3195V	probably damaging	Het
Eprs1	T	G	1: 185,150,563 (GRCm39)	F1355C	probably benign	Het
Faim2	A	G	15: 99,418,243 (GRCm39)		probably benign	Het
Fancg	A	G	4: 43,007,121 (GRCm39)		probably benign	Het
Fbxo42	T	A	4: 140,926,845 (GRCm39)	I375N	probably damaging	Het
Gabrr3	A	T	16: 59,268,371 (GRCm39)	D328V	probably damaging	Het
Gm5849	T	A	3: 90,685,107 (GRCm39)	D26V	probably damaging	Het
Gm6563	T	C	19: 23,653,234 (GRCm39)	L8P	possibly damaging	Het
Gpld1	A	G	13: 25,174,019 (GRCm39)	N815D	possibly damaging	Het
Hrob	A	G	11: 102,146,125 (GRCm39)	I134V	probably benign	Het
Idh2	T	A	7: 79,748,856 (GRCm39)	I142F	probably damaging	Het
Kcnh7	A	C	2: 62,552,269 (GRCm39)	N907K	probably benign	Het
Mcm3ap	A	G	10: 76,306,894 (GRCm39)	T336A	possibly damaging	Het
Or4c15	A	T	2: 88,760,048 (GRCm39)	S204T	possibly damaging	Het
Or52i2	T	C	7: 102,319,651 (GRCm39)	S175P	possibly damaging	Het
Or5b3	C	A	19: 13,388,850 (GRCm39)	Q306K	probably benign	Het
Pilrb1	C	A	5: 137,855,492 (GRCm39)	R133L	possibly damaging	Het
Pitpnm3	C	A	11: 72,011,012 (GRCm39)		probably benign	Het
Prkdc	C	T	16: 15,617,880 (GRCm39)	T3237I	possibly damaging	Het
Pspc1	A	G	14: 57,009,153 (GRCm39)		probably benign	Het
Rasgrp4	G	A	7: 28,847,831 (GRCm39)	E414K	probably damaging	Het
Rgs12	T	A	5: 35,122,463 (GRCm39)	L82Q	probably damaging	Het
Sh3gl3	T	C	7: 81,923,087 (GRCm39)	V117A	probably benign	Het
Tasor2	A	T	13: 3,634,820 (GRCm39)	H662Q	probably benign	Het
Tedc1	A	G	12: 113,126,941 (GRCm39)	E401G	probably benign	Het
Tsc22d1	T	C	14: 76,656,341 (GRCm39)	M940T	probably benign	Het
Vmn1r129	A	T	7: 21,094,663 (GRCm39)	V185E	probably damaging	Het
Zfp982	C	A	4: 147,597,052 (GRCm39)	D136E	possibly damaging	Het

Other mutations in Shisa5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02735:Shisa5	APN	9	108,885,080 (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

2016-08-02