Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01638:S100a7a'

93141

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 #

IGL01638

Quality Score

Status

Chromosome

Chromosomal Location

90561609-90565437 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90562837 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 8 (D8G)

Ref Sequence

ENSEMBL: ENSMUSP00000078268 (fasta)

Gene Model

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

AlphaFold

Q6S5I3

Predicted Effect

probably benign
Transcript: ENSMUST00000079286
AA Change: D8G

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078268
Gene: ENSMUSG00000063767
AA Change: D8G

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: ENSMUST00000195941

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212471

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,849,409 (GRCm39)	T436A	probably benign	Het
Adgrb3	T	A	1: 25,598,832 (GRCm39)		probably benign	Het
Ajap1	A	G	4: 153,516,693 (GRCm39)	V216A	possibly damaging	Het
Akap7	T	A	10: 25,143,323 (GRCm39)	I124F	probably damaging	Het
Arfgef2	G	A	2: 166,715,865 (GRCm39)	V1385M	probably damaging	Het
Arhgap30	A	G	1: 171,225,138 (GRCm39)	K65E	probably damaging	Het
Bltp1	A	G	3: 37,028,460 (GRCm39)	N2377D	probably damaging	Het
Cacna1a	T	C	8: 85,298,456 (GRCm39)	F1260S	probably damaging	Het
Cad	T	A	5: 31,224,958 (GRCm39)	C954S	probably damaging	Het
Fcmr	A	T	1: 130,802,859 (GRCm39)	E157D	probably benign	Het
Gm4204	A	T	1: 135,160,873 (GRCm39)		noncoding transcript	Het
Gzmn	A	T	14: 56,406,476 (GRCm39)	D16E	probably benign	Het
Krt86	A	C	15: 101,373,353 (GRCm39)		probably benign	Het
Macc1	T	C	12: 119,410,246 (GRCm39)	L338P	probably benign	Het
Ms4a6d	A	T	19: 11,564,532 (GRCm39)	L113Q	probably damaging	Het
Myh15	T	C	16: 48,889,843 (GRCm39)	S145P	probably damaging	Het
Nav3	T	C	10: 109,688,724 (GRCm39)	K518E	probably damaging	Het
Or8d6	T	C	9: 39,853,816 (GRCm39)	S87P	probably benign	Het
Parp11	T	A	6: 127,468,492 (GRCm39)	F181I	probably benign	Het
Ppil1	C	A	17: 29,480,766 (GRCm39)	K52N	probably benign	Het
Prl5a1	T	A	13: 28,329,422 (GRCm39)	C34S	possibly damaging	Het
Prss55	A	G	14: 64,314,636 (GRCm39)	V178A	probably benign	Het
Sh3glb2	A	G	2: 30,235,862 (GRCm39)	V310A	possibly damaging	Het
Slc22a7	T	C	17: 46,748,920 (GRCm39)		probably null	Het
Slc27a6	A	G	18: 58,740,885 (GRCm39)	D482G	probably damaging	Het
Smarcc2	T	A	10: 128,323,943 (GRCm39)		probably benign	Het
Specc1l	T	A	10: 75,082,039 (GRCm39)	Y478*	probably null	Het
Spryd3	A	G	15: 102,038,711 (GRCm39)		probably null	Het
Tcerg1l	G	A	7: 137,881,805 (GRCm39)	R295C	probably damaging	Het
Trpv1	T	C	11: 73,144,155 (GRCm39)	I637T	probably damaging	Het
Ttc7	A	C	17: 87,666,540 (GRCm39)		probably null	Het
Vmn1r6	C	T	6: 56,980,177 (GRCm39)	Q280*	probably null	Het

Other mutations in S100a7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01595:S100a7a	APN	3	90,565,107 (GRCm39)	missense	probably benign	0.00
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