Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02320:Shisa2'

288193

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Shisa2

Ensembl Gene

ENSMUSG00000044461

Gene Name

shisa family member 2

Synonyms

Tmem46, 9430059P22Rik, MAd2, shisa, mShisa

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

IGL02320

Quality Score

Status

Chromosome

Chromosomal Location

59862757-59869109 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59867246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 166 (M166K)

Ref Sequence

ENSEMBL: ENSMUSP00000059391 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053949]

AlphaFold

Q8QZV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000053949
AA Change: M166K

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

SMART Domains

Protein: ENSMUSP00000059391
Gene: ENSMUSG00000044461
AA Change: M166K

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Shisa	35	224	6e-60	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224155

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null alle exhibit dwarfism, delayed growth and postnatal lethality with abnormal hypothalamus morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,445,961 (GRCm39)	S146P	probably damaging	Het
Ap1m2	A	T	9: 21,210,620 (GRCm39)	Y336*	probably null	Het
Arap1	T	C	7: 101,034,236 (GRCm39)	L226P	probably benign	Het
Cacna1c	T	A	6: 118,614,753 (GRCm39)	N1150Y	probably damaging	Het
Ccsap	G	T	8: 124,569,177 (GRCm39)	H221Q	probably damaging	Het
Ceacam3	T	A	7: 16,895,865 (GRCm39)	Y612N	probably benign	Het
Col12a1	A	G	9: 79,523,303 (GRCm39)		probably null	Het
Ddx23	T	C	15: 98,548,819 (GRCm39)	T328A	possibly damaging	Het
Depdc1a	T	A	3: 159,222,570 (GRCm39)	M252K	probably damaging	Het
Fpr2	A	C	17: 18,113,608 (GRCm39)	R201S	probably benign	Het
Ighv1-20	A	G	12: 114,687,463 (GRCm39)	S94P	probably damaging	Het
Itgb7	A	C	15: 102,132,772 (GRCm39)	V180G	probably benign	Het
Mmp13	G	T	9: 7,278,941 (GRCm39)	R344L	probably benign	Het
Mucl3	A	T	17: 35,948,332 (GRCm39)	N422K	probably benign	Het
Ncam2	C	T	16: 81,231,725 (GRCm39)	S63L	probably damaging	Het
Or5p52	C	T	7: 107,502,038 (GRCm39)	T38I	possibly damaging	Het
Pde9a	G	A	17: 31,678,059 (GRCm39)	C187Y	probably damaging	Het
Sh2b1	A	G	7: 126,068,341 (GRCm39)	L490P	probably benign	Het
Shank2	A	G	7: 143,974,681 (GRCm39)	T1193A	probably damaging	Het
Smg7	A	T	1: 152,744,088 (GRCm39)	S40T	possibly damaging	Het
Spef2	A	C	15: 9,717,662 (GRCm39)	S285A	probably damaging	Het
Tlcd3a	A	G	11: 76,096,231 (GRCm39)	M120V	probably damaging	Het
Trgv7	C	A	13: 19,362,249 (GRCm39)	P13Q	unknown	Het
Ttn	A	G	2: 76,769,656 (GRCm39)		probably benign	Het
Tyw5	A	G	1: 57,435,884 (GRCm39)		probably null	Het
Vars2	A	G	17: 35,971,346 (GRCm39)	V212A	probably benign	Het
Vmn2r1	T	C	3: 63,989,180 (GRCm39)	S40P	possibly damaging	Het
Wwc2	A	G	8: 48,316,882 (GRCm39)		probably null	Het
Zbed6	T	C	1: 133,585,411 (GRCm39)	N642S	probably damaging	Het
Zfp423	A	T	8: 88,508,230 (GRCm39)	C580S	probably damaging	Het
Zfp64	A	G	2: 168,768,118 (GRCm39)	V498A	probably damaging	Het

Other mutations in Shisa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01977:Shisa2	APN	14	59,867,435 (GRCm39)	missense	probably damaging	1.00
R2030:Shisa2	UTSW	14	59,867,134 (GRCm39)	missense	probably damaging	1.00
R3686:Shisa2	UTSW	14	59,867,228 (GRCm39)	missense	probably damaging	1.00
R4673:Shisa2	UTSW	14	59,867,629 (GRCm39)	missense	probably damaging	1.00
R5105:Shisa2	UTSW	14	59,867,263 (GRCm39)	missense	possibly damaging	0.78
R6014:Shisa2	UTSW	14	59,867,357 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16