Mutagenetix > Incidental Mutation

Incidental Mutation 'R7299:Shisa5'

566870

Institutional Source

Beutler Lab

Gene Symbol

Shisa5

Ensembl Gene

ENSMUSG00000025647

Gene Name

shisa family member 5

Synonyms

6430628I05Rik, Scotin, 2310008D10Rik

MMRRC Submission

045403-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7299 (G1)

Quality Score

123.008

Status

Validated

Chromosome

Chromosomal Location

108867633-108886845 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 108883952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000142404 (fasta)

Gene Model

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

AlphaFold

Q9D7I0

Predicted Effect

probably benign
Transcript: ENSMUST00000026737

SMART Domains

Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647

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 benign
Transcript: ENSMUST00000112059

SMART Domains

Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647

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

probably benign
Transcript: ENSMUST00000154184

SMART Domains

Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647

Domain	Start	End	E-Value	Type
Pfam:Shisa	1	108	1.6e-37	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: ENSMUST00000196954

SMART Domains

Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197099

SMART Domains

Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197483

SMART Domains

Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000197689

SMART Domains

Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647

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

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: ENSMUST00000198295

SMART Domains

Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198376

SMART Domains

Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000198708

SMART Domains

Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000199868

Predicted Effect

probably benign
Transcript: ENSMUST00000200515

SMART Domains

Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647

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

Predicted Effect

probably benign
Transcript: ENSMUST00000200629

SMART Domains

Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.2%

Validation Efficiency

99% (71/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432M17Rik	A	C	3: 121,473,095 (GRCm39)	K83N	unknown	Het
Abca13	A	T	11: 9,244,649 (GRCm39)	N2171Y	probably damaging	Het
Abcc8	G	A	7: 45,754,922 (GRCm39)	T1532I	possibly damaging	Het
Abtb2	A	T	2: 103,532,769 (GRCm39)		probably null	Het
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Agk	A	T	6: 40,306,451 (GRCm39)	T7S	possibly damaging	Het
Akap9	C	A	5: 4,082,696 (GRCm39)	T1940K	probably damaging	Het
Ccdc8	A	G	7: 16,729,956 (GRCm39)	T482A	unknown	Het
Cd2ap	G	A	17: 43,140,904 (GRCm39)	R212*	probably null	Het
Cenpt	G	A	8: 106,576,536 (GRCm39)	Q45*	probably null	Het
Cnga1	T	C	5: 72,762,775 (GRCm39)	I246M	probably benign	Het
Cnot7	A	G	8: 40,960,586 (GRCm39)	I74T	probably damaging	Het
Cog6	T	C	3: 52,909,928 (GRCm39)	S275G	probably benign	Het
Csmd2	C	A	4: 128,422,055 (GRCm39)	D2797E		Het
Ddx24	A	G	12: 103,385,709 (GRCm39)	M298T	possibly damaging	Het
Eif2b3	T	A	4: 116,910,019 (GRCm39)	S185T	probably benign	Het
Ergic2	T	A	6: 148,089,610 (GRCm39)	Y249F	probably damaging	Het
Exoc1	T	A	5: 76,690,006 (GRCm39)	M182K	probably damaging	Het
Fhdc1	T	C	3: 84,351,847 (GRCm39)	E1126G	probably damaging	Het
Gabrr2	T	A	4: 33,095,284 (GRCm39)	M391K	probably benign	Het
Gap43	T	C	16: 42,112,615 (GRCm39)	K49E	probably damaging	Het
Gata4	T	A	14: 63,441,191 (GRCm39)	T276S	probably damaging	Het
Gca	C	T	2: 62,520,320 (GRCm39)	P160L	probably benign	Het
Ghdc	C	T	11: 100,658,942 (GRCm39)	V397I	possibly damaging	Het
Gm3409	T	A	5: 146,476,357 (GRCm39)	D169E	probably benign	Het
Gtf3c3	G	A	1: 54,456,867 (GRCm39)	P511L	probably benign	Het
Hal	T	C	10: 93,328,423 (GRCm39)	V233A	probably benign	Het
Ighv1-4	T	C	12: 114,450,908 (GRCm39)	I67V	probably benign	Het
Itgb8	T	C	12: 119,166,196 (GRCm39)	N112D	probably benign	Het
Klhl38	G	A	15: 58,186,376 (GRCm39)	R118W	probably damaging	Het
Krtap26-1	T	C	16: 88,444,132 (GRCm39)	Y163C	possibly damaging	Het
Kyat1	T	C	2: 30,082,007 (GRCm39)	D44G	probably benign	Het
Mob1a	G	A	6: 83,315,431 (GRCm39)		probably null	Het
Mst1r	G	T	9: 107,791,989 (GRCm39)	A842S	possibly damaging	Het
Nhsl1	A	G	10: 18,403,419 (GRCm39)		probably null	Het
Nos1	A	T	5: 118,005,970 (GRCm39)	D230V	possibly damaging	Het
Nppb	T	C	4: 148,070,780 (GRCm39)	S52P	probably benign	Het
Odad2	T	C	18: 7,222,635 (GRCm39)	K545E	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or1s2	G	A	19: 13,758,688 (GRCm39)	W235*	probably null	Het
Pcdha3	G	A	18: 37,079,977 (GRCm39)	E240K	possibly damaging	Het
Podxl	G	T	6: 31,501,371 (GRCm39)	P395T	probably damaging	Het
Prr5l	T	A	2: 101,547,631 (GRCm39)	D298V	probably damaging	Het
Ptpro	G	A	6: 137,418,142 (GRCm39)		probably null	Het
Rad9b	A	G	5: 122,490,677 (GRCm39)	V13A	possibly damaging	Het
Ralgps1	T	C	2: 33,047,885 (GRCm39)	K365R	probably benign	Het
Reep1	A	T	6: 71,738,373 (GRCm39)	I44L	probably benign	Het
Ripor2	T	C	13: 24,908,984 (GRCm39)	I1034T	possibly damaging	Het
Rtn4ip1	T	C	10: 43,812,016 (GRCm39)	Y338H	probably damaging	Het
Snx24	G	T	18: 53,473,244 (GRCm39)	V63F	probably damaging	Het
Svep1	G	A	4: 58,046,587 (GRCm39)	Q3515*	probably null	Het
Tfap2a	T	C	13: 40,874,784 (GRCm39)	K276E	probably damaging	Het
Tmem158	C	A	9: 123,089,366 (GRCm39)	S82I	probably damaging	Het
Tmem263	T	A	10: 84,950,261 (GRCm39)		probably null	Het
Tmtc3	G	T	10: 100,283,336 (GRCm39)	H740N	not run	Het
Tnrc6a	A	C	7: 122,770,136 (GRCm39)	N642T	probably benign	Het
Top3a	A	T	11: 60,638,974 (GRCm39)	F559I	probably damaging	Het
Trak1	A	G	9: 121,280,929 (GRCm39)		probably null	Het
Trpc4	T	C	3: 54,225,048 (GRCm39)	I799T	possibly damaging	Het
Ttc7	T	C	17: 87,653,970 (GRCm39)	I549T	possibly damaging	Het
Tysnd1	C	A	10: 61,532,328 (GRCm39)	P327T	possibly damaging	Het
Ulk4	T	A	9: 120,974,125 (GRCm39)	D969V	probably benign	Het
Vcan	T	A	13: 89,853,385 (GRCm39)	Y525F	probably benign	Het
Vmn1r204	G	A	13: 22,740,975 (GRCm39)	S202N	probably damaging	Het
Vmn2r107	A	G	17: 20,565,878 (GRCm39)	I64M	probably benign	Het
Wrn	A	G	8: 33,782,746 (GRCm39)	F728S	probably damaging	Het
Zfp280b	C	G	10: 75,874,537 (GRCm39)	Q139E	probably damaging	Het
Zfp322a	C	A	13: 23,541,313 (GRCm39)	G143V	probably damaging	Het
Zfp322a	C	T	13: 23,541,314 (GRCm39)	G143S	probably benign	Het
Zfp418	T	A	7: 7,185,827 (GRCm39)	C597S	possibly damaging	Het
Zfp568	A	G	7: 29,716,669 (GRCm39)	T190A	probably benign	Het
Zfyve26	A	T	12: 79,329,758 (GRCm39)	V476D	probably benign	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
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
R7301:Shisa5	UTSW	9	108,883,952 (GRCm39)	intron	probably benign
R9467:Shisa5	UTSW	9	108,867,712 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TAGCCTTCTTTTAGAGGCCTGG -3'
(R):5'- ACATTCGCATGGTCCGTTG -3'

Sequencing Primer
(F):5'- CTTTTAGAGGCCTGGGAACAC -3'
(R):5'- CATGGTCCGTTGCATGCAG -3'

Posted On

2019-06-26