Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02578:Shisal2a'

299256

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 #

IGL02578

Quality Score

Status

Chromosome

Chromosomal Location

108224974-108240546 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 108225225 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 112 (M112I)

Ref Sequence

ENSEMBL: ENSMUSP00000060463 (fasta)

Gene Model

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

AlphaFold

A2A9G7

Predicted Effect

probably benign
Transcript: ENSMUST00000053157
AA Change: M112I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060463
Gene: ENSMUSG00000059816
AA Change: M112I

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,023,179 (GRCm39)		probably null	Het
Ago1	T	A	4: 126,333,324 (GRCm39)	D545V	probably benign	Het
Arid2	T	C	15: 96,270,116 (GRCm39)	S1410P	probably benign	Het
Cbfa2t3	T	A	8: 123,360,187 (GRCm39)	D488V	possibly damaging	Het
Cdx2	T	C	5: 147,240,094 (GRCm39)	D194G	probably damaging	Het
Cyp4a32	A	G	4: 115,466,939 (GRCm39)	Q208R	possibly damaging	Het
Degs1	A	C	1: 182,106,592 (GRCm39)	Y222*	probably null	Het
Dnah7a	T	A	1: 53,472,074 (GRCm39)	E3564D	probably benign	Het
Dsg4	A	T	18: 20,604,250 (GRCm39)	I906F	possibly damaging	Het
Elovl3	A	G	19: 46,123,132 (GRCm39)	H236R	possibly damaging	Het
Foxp2	A	G	6: 15,376,814 (GRCm39)		probably benign	Het
Gm9892	A	T	8: 52,649,328 (GRCm39)		noncoding transcript	Het
Herc2	A	G	7: 55,756,283 (GRCm39)		probably null	Het
Hhat	A	G	1: 192,376,221 (GRCm39)	V304A	probably damaging	Het
Il16	C	T	7: 83,327,194 (GRCm39)		probably null	Het
Kansl1l	G	A	1: 66,840,848 (GRCm39)	Q151*	probably null	Het
Kmt2c	G	T	5: 25,571,198 (GRCm39)		probably benign	Het
Krt39	T	C	11: 99,412,032 (GRCm39)	N18S	probably benign	Het
Lcor	G	T	19: 41,547,589 (GRCm39)	G391V	probably damaging	Het
Mical2	A	T	7: 111,950,580 (GRCm39)	T845S	probably benign	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Mphosph8	C	T	14: 56,911,667 (GRCm39)	A230V	probably benign	Het
Myh2	T	A	11: 67,077,517 (GRCm39)	M884K	probably benign	Het
Nlrp3	T	C	11: 59,439,227 (GRCm39)	L268P	probably damaging	Het
Ntng1	T	A	3: 110,042,710 (GRCm39)	T39S	probably benign	Het
Or10ag58	T	A	2: 87,265,401 (GRCm39)	I190K	probably damaging	Het
Or1j14	A	C	2: 36,418,156 (GRCm39)	H244P	probably damaging	Het
Or5al7	A	T	2: 85,993,073 (GRCm39)	Y73*	probably null	Het
Pde4b	T	A	4: 102,112,494 (GRCm39)	M26K	possibly damaging	Het
Polh	G	A	17: 46,505,218 (GRCm39)	Q133*	probably null	Het
Postn	A	T	3: 54,284,625 (GRCm39)	N647I	possibly damaging	Het
Scimp	T	A	11: 70,682,387 (GRCm39)	I110F	possibly damaging	Het
Sell	A	G	1: 163,893,165 (GRCm39)	D127G	probably damaging	Het
Serpinb12	G	A	1: 106,883,220 (GRCm39)		probably null	Het
She	A	G	3: 89,739,373 (GRCm39)	E188G	probably damaging	Het
Slc22a1	T	C	17: 12,886,126 (GRCm39)	Y169C	probably damaging	Het
Slco2a1	C	T	9: 102,923,957 (GRCm39)	T57I	probably damaging	Het
Sox2	A	T	3: 34,704,745 (GRCm39)	M61L	probably benign	Het
Sra1	G	A	18: 36,803,150 (GRCm39)	Q32*	probably null	Het
Syne2	T	A	12: 76,069,053 (GRCm39)	S4340T	possibly damaging	Het
Ucn	A	C	5: 31,295,738 (GRCm39)	W43G	possibly damaging	Het
Xdh	C	T	17: 74,213,241 (GRCm39)	M836I	probably damaging	Het
Xirp2	T	A	2: 67,341,591 (GRCm39)	D1277E	probably damaging	Het

Other mutations in Shisal2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03247:Shisal2a	APN	4	108,225,098 (GRCm39)	missense	probably benign	0.00
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

2015-04-16