Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01595:S100a7a'

93397

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

S100a7a

Ensembl Gene

ENSMUSG00000063767

Gene Name

S100 calcium binding protein A7A

Synonyms

S100a15, S100a17l1, S100A7f, LOC381493

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

90561609-90565437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90565107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 101 (Y101H)

Ref Sequence

ENSEMBL: ENSMUSP00000078268 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079286]

AlphaFold

Q6S5I3

Predicted Effect

probably benign
Transcript: ENSMUST00000079286
AA Change: Y101H

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

SMART Domains

Protein: ENSMUSP00000078268
Gene: ENSMUSG00000063767
AA Change: Y101H

Domain	Start	End	E-Value	Type
Pfam:S_100	6	48	1.9e-14	PFAM
Pfam:EF-hand_1	57	85	4.3e-8	PFAM
Pfam:EF-hand_5	58	85	6.6e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212471

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,968,181 (GRCm39)	M111V	probably damaging	Het
Adamts14	A	T	10: 61,041,252 (GRCm39)	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,075,359 (GRCm39)	N1072K	probably benign	Het
Ahnak	T	A	19: 8,980,865 (GRCm39)	Y716*	probably null	Het
Arfgef3	T	C	10: 18,470,660 (GRCm39)	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,092,499 (GRCm39)		probably null	Het
Bdnf	A	T	2: 109,554,273 (GRCm39)	K176*	probably null	Het
C2cd5	C	T	6: 142,963,748 (GRCm39)	R879H	probably damaging	Het
Capn11	T	A	17: 45,950,360 (GRCm39)	H327L	probably benign	Het
Ccdc68	A	G	18: 70,089,117 (GRCm39)	N220S	probably benign	Het
Cftr	T	C	6: 18,198,238 (GRCm39)		probably benign	Het
Clca3a2	G	A	3: 144,793,768 (GRCm39)	L296F	probably damaging	Het
Cubn	A	T	2: 13,330,027 (GRCm39)	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,501,429 (GRCm39)		probably null	Het
Gpr37	G	T	6: 25,669,572 (GRCm39)	T424N	probably damaging	Het
Kank3	G	A	17: 34,038,154 (GRCm39)		probably null	Het
Kcnh5	T	C	12: 74,945,101 (GRCm39)	Q716R	probably benign	Het
Kntc1	G	A	5: 123,941,758 (GRCm39)	M1817I	probably benign	Het
Krt79	T	G	15: 101,840,206 (GRCm39)	E330A	probably damaging	Het
Mapk15	C	A	15: 75,867,129 (GRCm39)	P82Q	probably benign	Het
Myh15	A	T	16: 48,993,312 (GRCm39)	D1649V	probably damaging	Het
Myo1d	T	C	11: 80,566,936 (GRCm39)	I326V	probably benign	Het
Nek9	A	T	12: 85,361,194 (GRCm39)	W504R	probably damaging	Het
Nlrp4c	T	A	7: 6,069,111 (GRCm39)	C337*	probably null	Het
Nup160	A	G	2: 90,560,081 (GRCm39)	N1269D	probably damaging	Het
Or52e3	A	G	7: 102,869,558 (GRCm39)	D211G	probably damaging	Het
Or56b2	T	C	7: 104,337,285 (GRCm39)	M21T	possibly damaging	Het
Or8c10	T	C	9: 38,279,346 (GRCm39)	V168A	probably benign	Het
Pde6a	A	G	18: 61,414,599 (GRCm39)	M36V	probably damaging	Het
Perp	A	G	10: 18,731,407 (GRCm39)	Q122R	probably damaging	Het
Sbk2	C	A	7: 4,960,712 (GRCm39)	V153L	possibly damaging	Het
Serpinb7	A	T	1: 107,356,052 (GRCm39)	N25I	probably damaging	Het
Tbx5	A	T	5: 119,978,903 (GRCm39)	D105V	probably damaging	Het
Trip6	T	A	5: 137,311,675 (GRCm39)	T101S	probably benign	Het
Ush2a	T	A	1: 188,386,921 (GRCm39)		probably null	Het

Other mutations in S100a7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01638:S100a7a	APN	3	90,562,837 (GRCm39)	missense	probably benign	0.18
R1440:S100a7a	UTSW	3	90,562,942 (GRCm39)	missense	probably benign
R7125:S100a7a	UTSW	3	90,562,822 (GRCm39)	missense	probably benign	0.00
R7815:S100a7a	UTSW	3	90,565,119 (GRCm39)	missense	probably benign	0.01
R8424:S100a7a	UTSW	3	90,562,868 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-09