Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00231:S100a7l2'

2465

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

S100a7l2

Ensembl Gene

ENSMUSG00000091175

Gene Name

S100 calcium binding protein A7 like 2

Synonyms

9130204L05Rik, LOC229550

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

IGL00231

Quality Score

Status

Chromosome

Chromosomal Location

90995444-90998110 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90995665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 79 (M79T)

Ref Sequence

ENSEMBL: ENSMUSP00000130512 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000166173]

AlphaFold

G3UWB8

Predicted Effect

probably benign
Transcript: ENSMUST00000166173
AA Change: M79T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000130512
Gene: ENSMUSG00000091175
AA Change: M79T

Domain	Start	End	E-Value	Type
Pfam:S_100	9	48	4.4e-10	PFAM

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
Adamtsl1	A	G	4: 86,303,877 (GRCm39)	T1346A	probably benign	Het
Ccdc102a	T	C	8: 95,638,266 (GRCm39)		probably null	Het
Cgrrf1	T	C	14: 47,069,779 (GRCm39)	F16S	probably damaging	Het
Clybl	T	C	14: 122,616,610 (GRCm39)		probably benign	Het
Cubn	T	C	2: 13,386,660 (GRCm39)	E1535G	possibly damaging	Het
Dmrtc1b	C	A	X: 101,757,233 (GRCm39)	P226H	probably benign	Het
Dnah17	G	A	11: 117,979,040 (GRCm39)	A1784V	possibly damaging	Het
Dnajc24	A	G	2: 105,832,348 (GRCm39)	Y12H	probably damaging	Het
Drd1	T	C	13: 54,207,486 (GRCm39)	T236A	probably benign	Het
Ep400	A	T	5: 110,835,707 (GRCm39)	V1934D	unknown	Het
Flt1	A	G	5: 147,517,110 (GRCm39)		probably null	Het
Fut8	A	G	12: 77,495,262 (GRCm39)	K284R	probably benign	Het
Hcn1	A	G	13: 118,112,529 (GRCm39)	E831G	probably damaging	Het
Inpp5j	A	T	11: 3,450,009 (GRCm39)		probably benign	Het
Insig2	A	G	1: 121,233,676 (GRCm39)	Y213H	probably damaging	Het
Kcnh4	G	A	11: 100,647,821 (GRCm39)		probably benign	Het
Kifc2	T	A	15: 76,551,662 (GRCm39)		probably benign	Het
Krt75	T	C	15: 101,481,081 (GRCm39)	E231G	probably benign	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mfsd4b2	T	A	10: 39,801,057 (GRCm39)		probably benign	Het
Micall2	T	A	5: 139,703,311 (GRCm39)		probably null	Het
Or10ag2	A	G	2: 87,248,910 (GRCm39)	T173A	possibly damaging	Het
Or8s5	C	T	15: 98,238,054 (GRCm39)	S256N	possibly damaging	Het
Osbp2	C	T	11: 3,676,561 (GRCm39)	D287N	possibly damaging	Het
Plin1	A	G	7: 79,376,408 (GRCm39)		probably benign	Het
Ppl	T	C	16: 4,907,409 (GRCm39)	N962S	probably benign	Het
Psg25	C	T	7: 18,260,106 (GRCm39)		probably benign	Het
Ptprt	A	T	2: 161,652,544 (GRCm39)	D601E	probably benign	Het
Sbno2	C	A	10: 79,900,340 (GRCm39)		probably benign	Het
Sntg2	T	C	12: 30,326,720 (GRCm39)	D147G	probably benign	Het
Sox4	C	A	13: 29,136,956 (GRCm39)	G17W	probably damaging	Het
Stam2	T	A	2: 52,596,418 (GRCm39)	I307F	possibly damaging	Het
Tbx21	T	G	11: 96,989,749 (GRCm39)	E481A	probably damaging	Het
Tsc2	G	A	17: 24,827,081 (GRCm39)	T876I	probably damaging	Het
Wdfy4	T	C	14: 32,824,496 (GRCm39)	I1308V	possibly damaging	Het
Wdr37	C	T	13: 8,870,541 (GRCm39)	V143I	probably damaging	Het
Wdr43	T	G	17: 71,959,809 (GRCm39)	Y550D	probably damaging	Het
Wnk4	A	G	11: 101,159,574 (GRCm39)	D593G	possibly damaging	Het

Other mutations in S100a7l2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01372:S100a7l2	APN	3	90,995,616 (GRCm39)	utr 3 prime	probably benign
IGL01526:S100a7l2	APN	3	90,995,612 (GRCm39)	utr 3 prime	probably benign
IGL02894:S100a7l2	APN	3	90,995,700 (GRCm39)	missense	probably benign	0.18
IGL03110:S100a7l2	APN	3	90,995,626 (GRCm39)	missense	unknown
IGL03250:S100a7l2	APN	3	90,997,715 (GRCm39)	utr 5 prime	probably benign
R2357:S100a7l2	UTSW	3	90,995,733 (GRCm39)	missense	probably benign	0.35
R3795:S100a7l2	UTSW	3	90,995,730 (GRCm39)	missense	possibly damaging	0.73
R5315:S100a7l2	UTSW	3	90,997,637 (GRCm39)	missense	possibly damaging	0.56
R5495:S100a7l2	UTSW	3	90,997,602 (GRCm39)	missense	possibly damaging	0.93
R6314:S100a7l2	UTSW	3	90,995,683 (GRCm39)	missense	possibly damaging	0.56
R8351:S100a7l2	UTSW	3	90,995,671 (GRCm39)	missense	probably benign	0.01
R8451:S100a7l2	UTSW	3	90,995,671 (GRCm39)	missense	probably benign	0.01
R9371:S100a7l2	UTSW	3	90,997,698 (GRCm39)	missense	unknown
Z1177:S100a7l2	UTSW	3	90,995,663 (GRCm39)	missense	probably benign	0.01

Posted On

2011-12-09