Mutagenetix > Incidental Mutation

Incidental Mutation 'R4706:Shisa5'

355234

Institutional Source

Beutler Lab

Gene Symbol

Shisa5

Ensembl Gene

ENSMUSG00000025647

Gene Name

shisa family member 5

Synonyms

6430628I05Rik, Scotin, 2310008D10Rik

MMRRC Submission

041954-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4706 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

108867633-108886845 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 108885128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 133 (C133S)

Ref Sequence

ENSEMBL: ENSMUSP00000026737 (fasta)

Gene Model

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

AlphaFold

Q9D7I0

Predicted Effect

probably null
Transcript: ENSMUST00000026737
AA Change: C133S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026737
Gene: ENSMUSG00000025647
AA Change: C133S

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 null
Transcript: ENSMUST00000112059
AA Change: C134S

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107690
Gene: ENSMUSG00000025647
AA Change: C134S

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 null
Transcript: ENSMUST00000154184
AA Change: C30S

SMART Domains

Protein: ENSMUSP00000128901
Gene: ENSMUSG00000025647
AA Change: C30S

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

Predicted Effect

probably null
Transcript: ENSMUST00000196954
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000143599
Gene: ENSMUSG00000025647
AA Change: C31S

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

Predicted Effect

probably null
Transcript: ENSMUST00000197099
AA Change: C65S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000143648
Gene: ENSMUSG00000025647
AA Change: C65S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197194

Predicted Effect

probably null
Transcript: ENSMUST00000197483
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000143613
Gene: ENSMUSG00000025647
AA Change: C31S

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

Predicted Effect

probably null
Transcript: ENSMUST00000197689
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000142874
Gene: ENSMUSG00000025647
AA Change: C31S

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

Predicted Effect

probably null
Transcript: ENSMUST00000198295
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000143721
Gene: ENSMUSG00000025647
AA Change: C31S

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

Predicted Effect

probably null
Transcript: ENSMUST00000198376
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000143374
Gene: ENSMUSG00000025647
AA Change: C31S

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

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 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: ENSMUST00000198281

SMART Domains

Protein: ENSMUSP00000143581
Gene: ENSMUSG00000025647

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198639

Predicted Effect

probably null
Transcript: ENSMUST00000198708
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000142978
Gene: ENSMUSG00000025647
AA Change: C31S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199288

Predicted Effect

probably null
Transcript: ENSMUST00000199868
AA Change: C34S

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

Predicted Effect

probably null
Transcript: ENSMUST00000200515
AA Change: C69S

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142835
Gene: ENSMUSG00000025647
AA Change: C69S

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

Predicted Effect

probably null
Transcript: ENSMUST00000200629
AA Change: C31S

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

SMART Domains

Protein: ENSMUSP00000142404
Gene: ENSMUSG00000025647
AA Change: C31S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200366

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,064,988 (GRCm39)	N548K	probably damaging	Het
Abcd2	T	C	15: 91,043,385 (GRCm39)	D601G	probably benign	Het
Afap1l2	A	T	19: 56,925,672 (GRCm39)	I152N	possibly damaging	Het
Ankrd52	T	G	10: 128,214,030 (GRCm39)	M62R	probably benign	Het
Aox4	A	T	1: 58,305,946 (GRCm39)	T1317S	probably damaging	Het
Apol7c	T	A	15: 77,409,923 (GRCm39)	Q341L	probably benign	Het
Arhgef4	C	T	1: 34,771,298 (GRCm39)	R1202W	probably benign	Het
B4galnt2	C	T	11: 95,766,923 (GRCm39)		probably null	Het
Cecr2	A	T	6: 120,732,539 (GRCm39)	E477V	possibly damaging	Het
Chmp7	A	T	14: 69,956,010 (GRCm39)	D419E	probably benign	Het
Cmip	A	C	8: 118,103,893 (GRCm39)	K127T	probably damaging	Het
Csmd2	T	C	4: 128,438,544 (GRCm39)	V3041A	probably benign	Het
Cyp1b1	T	A	17: 80,020,771 (GRCm39)	I324F	possibly damaging	Het
Dapp1	T	C	3: 137,638,928 (GRCm39)	D225G	probably benign	Het
Ddx10	T	C	9: 53,145,231 (GRCm39)	T249A	probably damaging	Het
Dscaml1	T	C	9: 45,361,878 (GRCm39)	Y213H	probably damaging	Het
Eef1a2	T	C	2: 180,797,150 (GRCm39)	D17G	probably damaging	Het
Fbn1	T	C	2: 125,212,069 (GRCm39)	I848V	probably benign	Het
Fbxw18	A	G	9: 109,519,585 (GRCm39)	I307T	probably benign	Het
Fxr1	T	A	3: 34,118,278 (GRCm39)	D500E	probably damaging	Het
Gars1	G	A	6: 55,046,363 (GRCm39)	G492D	probably damaging	Het
Gria2	A	T	3: 80,648,297 (GRCm39)	D146E	probably benign	Het
Gstz1	A	G	12: 87,205,894 (GRCm39)	N37S	probably benign	Het
Hnrnph3	C	A	10: 62,853,059 (GRCm39)	G194V	probably damaging	Het
Il2rb	T	C	15: 78,370,600 (GRCm39)	R172G	possibly damaging	Het
Itga11	T	A	9: 62,662,578 (GRCm39)	V517D	possibly damaging	Het
Kcnq4	A	G	4: 120,561,683 (GRCm39)	I462T	probably benign	Het
Klf6	T	A	13: 5,911,639 (GRCm39)	M1K	probably null	Het
Lrp8	G	A	4: 107,718,470 (GRCm39)	A817T	probably benign	Het
Map3k5	T	A	10: 19,934,684 (GRCm39)	Y509N	probably damaging	Het
Mdc1	C	T	17: 36,163,671 (GRCm39)	S1073F	probably damaging	Het
Mme	A	G	3: 63,256,133 (GRCm39)	D531G	possibly damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mroh7	A	T	4: 106,548,821 (GRCm39)	V1014E	possibly damaging	Het
Msantd5l	A	T	11: 51,144,668 (GRCm39)	F204L	possibly damaging	Het
Myo1d	C	T	11: 80,557,467 (GRCm39)	C491Y	probably damaging	Het
Ncoa3	C	A	2: 165,889,799 (GRCm39)	D61E	probably damaging	Het
Nmrk1	A	G	19: 18,622,491 (GRCm39)	E190G	probably benign	Het
Nr4a2	G	T	2: 57,002,225 (GRCm39)	P13H	probably damaging	Het
Nup205	T	C	6: 35,178,943 (GRCm39)	L671P	probably damaging	Het
Omt2a	T	C	9: 78,220,352 (GRCm39)	I16V	probably benign	Het
Or4c116	A	T	2: 88,942,576 (GRCm39)	F93L	probably damaging	Het
Or51f2	T	A	7: 102,526,640 (GRCm39)	H104Q	probably damaging	Het
Or6n1	A	G	1: 173,917,268 (GRCm39)	I221V	probably damaging	Het
Or8k24	G	A	2: 86,216,732 (GRCm39)	T10I	probably benign	Het
Or8s5	G	T	15: 98,238,659 (GRCm39)	H70Q	possibly damaging	Het
Osbpl9	A	T	4: 109,013,884 (GRCm39)	I70N	probably damaging	Het
Pclo	A	T	5: 14,764,221 (GRCm39)	L4231F	unknown	Het
Per1	C	T	11: 68,991,444 (GRCm39)		probably benign	Het
Perm1	G	T	4: 156,301,531 (GRCm39)	C25F	probably damaging	Het
Phf3	A	G	1: 30,844,687 (GRCm39)	V1424A	probably damaging	Het
Plxnb1	T	G	9: 108,941,096 (GRCm39)	L1625R	probably damaging	Het
Ppid	G	A	3: 79,506,359 (GRCm39)	V216I	probably benign	Het
Ppp4r3a	C	T	12: 101,008,175 (GRCm39)	G754D	probably damaging	Het
Prex2	G	T	1: 11,270,212 (GRCm39)	W1299L	probably damaging	Het
Ptprn2	C	A	12: 116,835,714 (GRCm39)	Q350K	probably benign	Het
Ralyl	G	A	3: 14,104,850 (GRCm39)		probably null	Het
Rbm8a	G	A	3: 96,537,368 (GRCm39)		probably benign	Het
Relch	T	A	1: 105,620,004 (GRCm39)	M353K	probably benign	Het
Ros1	A	G	10: 51,977,990 (GRCm39)	S1419P	possibly damaging	Het
Rps6ka5	C	T	12: 100,564,144 (GRCm39)		probably null	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Rtel1	T	C	2: 180,965,539 (GRCm39)		probably null	Het
Sacs	A	G	14: 61,441,722 (GRCm39)	E1256G	probably damaging	Het
Sec23a	A	G	12: 59,029,372 (GRCm39)	V467A	probably damaging	Het
Sec24d	T	A	3: 123,149,427 (GRCm39)	N811K	possibly damaging	Het
Sf3b1	G	A	1: 55,029,666 (GRCm39)	T1112M	probably damaging	Het
Slc16a6	A	G	11: 109,354,193 (GRCm39)	S59P	probably benign	Het
Slc25a31	G	A	3: 40,670,975 (GRCm39)	A89T	probably damaging	Het
Slc6a1	G	T	6: 114,284,713 (GRCm39)	R257L	possibly damaging	Het
Sntb1	C	T	15: 55,612,670 (GRCm39)	V303M	probably benign	Het
Snx20	A	G	8: 89,354,439 (GRCm39)	V97A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,136 (GRCm39)	N285K	probably benign	Het
Vmn2r98	T	G	17: 19,290,007 (GRCm39)	S514R	probably damaging	Het
Zfp28	A	T	7: 6,392,793 (GRCm39)	E156D	probably damaging	Het
Zfp39	A	G	11: 58,793,633 (GRCm39)	V35A	probably benign	Het
Zfp536	A	C	7: 37,268,891 (GRCm39)	I175S	probably damaging	Het
Zic5	A	T	14: 122,696,969 (GRCm39)	S549T	unknown	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
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

Predicted Primers

PCR Primer
(F):5'- GTCTTTTGCCAAAAGGGGTCC -3'
(R):5'- ACAGCTGCAACGAGAATCCTG -3'

Sequencing Primer
(F):5'- TTACACTGGCTCTTTGGC -3'
(R):5'- GTTAAAATCTTACAGCTCCCTAGGC -3'

Posted On

2015-10-21