Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03247:Shisal2a'

414432

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shisal2a

Ensembl Gene

ENSMUSG00000059816

Gene Name

shisa like 2A

Synonyms

Fam159a, OTTMUSG00000008243

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL03247

Quality Score

Status

Chromosome

Chromosomal Location

108224974-108240546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 108225098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 155 (C155S)

Ref Sequence

ENSEMBL: ENSMUSP00000060463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053157]

AlphaFold

A2A9G7

Predicted Effect

probably benign
Transcript: ENSMUST00000053157
AA Change: C155S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000060463
Gene: ENSMUSG00000059816
AA Change: C155S

Domain	Start	End	E-Value	Type
transmembrane domain	56	90	N/A	INTRINSIC
low complexity region	131	139	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 56,007,553 (GRCm39)	I926F	probably damaging	Het
Agap3	A	G	5: 24,692,820 (GRCm39)	N418D	probably damaging	Het
Alms1	T	C	6: 85,655,579 (GRCm39)	V3375A	possibly damaging	Het
Ankrd6	T	A	4: 32,860,441 (GRCm39)	M1L	possibly damaging	Het
Aox4	A	G	1: 58,303,526 (GRCm39)	D1188G	probably damaging	Het
Car2	T	A	3: 14,952,999 (GRCm39)	L47Q	probably damaging	Het
Catsper2	A	G	2: 121,240,681 (GRCm39)	V107A	probably benign	Het
Catsperg2	T	C	7: 29,416,473 (GRCm39)	N313S	possibly damaging	Het
Dolk	T	C	2: 30,175,523 (GRCm39)	Y174C	probably damaging	Het
Erfe	A	G	1: 91,298,147 (GRCm39)	E219G	probably benign	Het
Ern2	T	C	7: 121,770,894 (GRCm39)	E733G	probably benign	Het
Fam228a	A	G	12: 4,787,734 (GRCm39)	F13S	probably damaging	Het
Fancd2	T	C	6: 113,545,169 (GRCm39)	V829A	probably benign	Het
Gid4	C	A	11: 60,323,169 (GRCm39)	T87N	probably benign	Het
H2-Ob	A	G	17: 34,462,466 (GRCm39)	K152R	probably benign	Het
Ifna2	T	A	4: 88,601,614 (GRCm39)	T135S	probably benign	Het
Il1rapl2	G	A	X: 137,690,429 (GRCm39)	G298D	probably damaging	Het
Mbd1	T	A	18: 74,407,825 (GRCm39)	L174*	probably null	Het
Mga	T	A	2: 119,765,994 (GRCm39)	D1341E	possibly damaging	Het
Mmp12	T	A	9: 7,348,631 (GRCm39)	M54K	probably benign	Het
Mphosph8	T	A	14: 56,916,277 (GRCm39)		probably null	Het
Mrps23	A	G	11: 88,100,922 (GRCm39)		probably benign	Het
Necab1	C	T	4: 14,960,046 (GRCm39)	M300I	probably benign	Het
Nid2	G	A	14: 19,829,688 (GRCm39)	D660N	probably damaging	Het
Or2ag12	T	A	7: 106,276,754 (GRCm39)	H313L	probably benign	Het
Or9r7	T	A	10: 129,962,584 (GRCm39)	E114V	probably damaging	Het
P2ry13	A	T	3: 59,117,013 (GRCm39)	V255D	possibly damaging	Het
Peak1	C	T	9: 56,165,214 (GRCm39)	E905K	probably damaging	Het
Picalm	C	A	7: 89,843,499 (GRCm39)	Q550K	probably benign	Het
Rnf103	T	A	6: 71,487,289 (GRCm39)	V640E	possibly damaging	Het
Sec31b	T	G	19: 44,507,379 (GRCm39)	K817N	possibly damaging	Het
Skint2	C	A	4: 112,483,223 (GRCm39)	H209Q	probably benign	Het
Skint5	T	C	4: 113,798,005 (GRCm39)	S193G	probably damaging	Het
Tacr3	A	G	3: 134,635,852 (GRCm39)		probably benign	Het
Tek	A	G	4: 94,753,680 (GRCm39)	M1041V	possibly damaging	Het
Tm4sf1	A	G	3: 57,200,436 (GRCm39)	S89P	possibly damaging	Het
Tusc3	T	A	8: 39,597,931 (GRCm39)	N299K	possibly damaging	Het
Washc4	T	C	10: 83,400,327 (GRCm39)	S418P	probably benign	Het

Other mutations in Shisal2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02578:Shisal2a	APN	4	108,225,225 (GRCm39)	missense	probably benign	0.02
R4028:Shisal2a	UTSW	4	108,240,412 (GRCm39)	nonsense	probably null
R4029:Shisal2a	UTSW	4	108,240,412 (GRCm39)	nonsense	probably null
R4030:Shisal2a	UTSW	4	108,240,412 (GRCm39)	nonsense	probably null
R4890:Shisal2a	UTSW	4	108,224,998 (GRCm39)	missense	probably benign
R4911:Shisal2a	UTSW	4	108,234,658 (GRCm39)	missense	probably benign	0.11
R6190:Shisal2a	UTSW	4	108,225,052 (GRCm39)	missense	probably damaging	1.00
R6647:Shisal2a	UTSW	4	108,225,224 (GRCm39)	missense	probably benign	0.00
R7128:Shisal2a	UTSW	4	108,225,100 (GRCm39)	missense	probably benign
R8557:Shisal2a	UTSW	4	108,225,085 (GRCm39)	missense	probably benign	0.37
R9655:Shisal2a	UTSW	4	108,234,616 (GRCm39)	missense	possibly damaging	0.47

Posted On

2016-08-02