Mutagenetix > Incidental Mutation

Incidental Mutation 'R3814:S100a4'

274182

Institutional Source

Beutler Lab

Gene Symbol

S100a4

Ensembl Gene

ENSMUSG00000001020

Gene Name

S100 calcium binding protein A4

Synonyms

CAPL, Capl, Mts1, 42a, Fibroblast-specific protein 1, PeL98, calvasculin, metastasin, FSp1, pk9a, 18A2

MMRRC Submission

040769-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.286) question?

Stock #

R3814 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90511077-90513349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90513152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 83 (A83T)

Ref Sequence

ENSEMBL: ENSMUSP00000001046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001046] [ENSMUST00000001047] [ENSMUST00000001049] [ENSMUST00000107329] [ENSMUST00000142476] [ENSMUST00000200290] [ENSMUST00000200508]

AlphaFold

P07091

Predicted Effect

probably benign
Transcript: ENSMUST00000001046
AA Change: A83T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001046
Gene: ENSMUSG00000001020
AA Change: A83T

Domain	Start	End	E-Value	Type
Pfam:S_100	5	48	2.1e-23	PFAM
Blast:EFh	54	82	6e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000001047

SMART Domains

Protein: ENSMUSP00000001047
Gene: ENSMUSG00000001021

Domain	Start	End	E-Value	Type
Pfam:S_100	5	46	4e-19	PFAM
Blast:EFh	54	82	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000001049

SMART Domains

Protein: ENSMUSP00000001049
Gene: ENSMUSG00000001023

Domain	Start	End	E-Value	Type
Pfam:S_100	5	43	1.7e-18	PFAM
Blast:EFh	52	80	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000107329

SMART Domains

Protein: ENSMUSP00000102952
Gene: ENSMUSG00000001023

Domain	Start	End	E-Value	Type
Pfam:S_100	5	45	6.1e-20	PFAM
Blast:EFh	52	80	2e-10	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000107330

SMART Domains

Protein: ENSMUSP00000102953
Gene: ENSMUSG00000105518

Domain	Start	End	E-Value	Type
Pfam:S_100	5	47	4.3e-23	PFAM
Blast:EFh	54	82	6e-12	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000142476

SMART Domains

Protein: ENSMUSP00000143522
Gene: ENSMUSG00000001020

Domain	Start	End	E-Value	Type
Pfam:S_100	5	47	1.9e-20	PFAM
Blast:EFh	54	78	2e-9	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196635

Predicted Effect

probably benign
Transcript: ENSMUST00000200290

SMART Domains

Protein: ENSMUSP00000142334
Gene: ENSMUSG00000001021

Domain	Start	End	E-Value	Type
Pfam:S_100	5	48	1.9e-20	PFAM
Blast:EFh	54	82	2e-6	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000200508

SMART Domains

Protein: ENSMUSP00000142747
Gene: ENSMUSG00000001021

Domain	Start	End	E-Value	Type
Pfam:S_100	5	48	1.9e-20	PFAM
Blast:EFh	54	82	2e-6	BLAST

Meta Mutation Damage Score

0.1751

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.9%

Validation Efficiency

100% (33/33)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21. This protein may function in motility, invasion, and tubulin polymerization. Chromosomal rearrangements and altered expression of this gene have been implicated in tumor metastasis. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one knock-out allele exhibit impaired chemotaxis of macrophages. Mice homozygous for another knock-out allele exhibit embryonic lethality resulting in a skewed sex ratio and increased tumor incidence. [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
4930433I11Rik	T	C	7: 40,642,343 (GRCm39)	V4A	probably damaging	Het
Abca4	C	T	3: 121,964,570 (GRCm39)		probably benign	Het
Adam20	G	T	8: 41,248,712 (GRCm39)	W274L	probably damaging	Het
Cep78	T	C	19: 15,959,166 (GRCm39)		probably null	Het
Clhc1	T	C	11: 29,521,826 (GRCm39)	I453T	possibly damaging	Het
Cyp2c55	T	A	19: 38,995,509 (GRCm39)	L7Q	probably damaging	Het
Dnah2	A	G	11: 69,383,476 (GRCm39)		probably null	Het
Dpy19l3	G	A	7: 35,426,717 (GRCm39)	Q64*	probably null	Het
Enthd1	T	A	15: 80,336,883 (GRCm39)	Y517F	probably benign	Het
Fndc1	T	C	17: 7,992,154 (GRCm39)	H514R	unknown	Het
G2e3	C	T	12: 51,400,444 (GRCm39)	T32I	probably benign	Het
Glb1l2	A	G	9: 26,682,330 (GRCm39)	S302P	probably benign	Het
Ino80d	C	T	1: 63,113,583 (GRCm39)	R289Q	probably benign	Het
Itsn1	T	C	16: 91,649,809 (GRCm39)	L161P	possibly damaging	Het
Kif19a	A	G	11: 114,672,745 (GRCm39)	Y256C	probably damaging	Het
Lrriq1	T	C	10: 103,051,972 (GRCm39)	E260G	probably damaging	Het
Map3k5	T	C	10: 19,901,936 (GRCm39)	S328P	probably damaging	Het
Map3k5	T	A	10: 20,016,426 (GRCm39)	V1339D	probably damaging	Het
Mib1	G	A	18: 10,763,281 (GRCm39)	V444M	probably benign	Het
Mon2	T	C	10: 122,849,470 (GRCm39)	I1277V	probably damaging	Het
Mvp	T	A	7: 126,586,801 (GRCm39)	M777L	probably benign	Het
Pik3c2a	G	A	7: 115,947,414 (GRCm39)	R1423W	probably damaging	Het
Prdm16	T	C	4: 154,412,750 (GRCm39)	E1085G	probably damaging	Het
Prune1	A	C	3: 95,172,750 (GRCm39)	V105G	probably damaging	Het
Rbpj	G	T	5: 53,810,514 (GRCm39)	E399*	probably null	Het
Rp1	C	A	1: 4,419,931 (GRCm39)	V394L	probably benign	Het
Satb1	T	C	17: 52,089,935 (GRCm39)	H304R	probably damaging	Het
Slc6a17	T	C	3: 107,378,633 (GRCm39)	E680G	possibly damaging	Het
Tbc1d4	A	T	14: 101,696,191 (GRCm39)	I919N	possibly damaging	Het
Vmn2r102	A	T	17: 19,899,093 (GRCm39)	K478N	probably damaging	Het
Zfp619	A	C	7: 39,184,823 (GRCm39)	R284S	probably benign	Het

Other mutations in S100a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1248:S100a4	UTSW	3	90,513,084 (GRCm39)	missense	possibly damaging	0.86
R8822:S100a4	UTSW	3	90,512,358 (GRCm39)	missense	probably benign	0.29
R9369:S100a4	UTSW	3	90,512,394 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCCCATAGTTTAGCCCCGAG -3'
(R):5'- TTGAATTTGCTCAGCACTGTG -3'

Sequencing Primer
(F):5'- AGGAGTGCTTGCAAACCTTC -3'
(R):5'- CCAACACTTCATCTGAGG -3'

Posted On

2015-04-02