Mutagenetix > Incidental Mutation

Incidental Mutation 'R1248:S100a4'

152179

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

039315-MU

Accession Numbers

Essential gene?

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

Stock #

R1248 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90511077-90513349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90513084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 60 (S60I)

Ref Sequence

ENSEMBL: ENSMUSP00000001046 (fasta)

Gene Model

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

AlphaFold

P07091

Predicted Effect

possibly damaging
Transcript: ENSMUST00000001046
AA Change: S60I

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000001046
Gene: ENSMUSG00000001020
AA Change: S60I

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
AA Change: S60I

PolyPhen 2 Score 0.180 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143522
Gene: ENSMUSG00000001020
AA Change: S60I

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: 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

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

Meta Mutation Damage Score

0.0926

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 90.5%

Validation Efficiency

98% (43/44)

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	T	10: 10,271,054 (GRCm39)	F863Y	probably damaging	Het
Akap12	A	G	10: 4,303,847 (GRCm39)	E219G	probably benign	Het
Akr1c20	G	A	13: 4,564,399 (GRCm39)	T38I	possibly damaging	Het
Ap5z1	C	A	5: 142,460,255 (GRCm39)	S511R	probably benign	Het
Arhgap11a	T	A	2: 113,664,447 (GRCm39)	H612L	possibly damaging	Het
Atp2b2	G	T	6: 113,794,153 (GRCm39)	S118Y	probably damaging	Het
Boc	A	T	16: 44,340,836 (GRCm39)	M38K	probably benign	Het
Ccdc171	A	T	4: 83,599,481 (GRCm39)	E773D	possibly damaging	Het
Clxn	A	G	16: 14,742,001 (GRCm39)	M212V	probably benign	Het
Dmtn	C	T	14: 70,850,098 (GRCm39)		probably benign	Het
Dnah10	G	A	5: 124,832,887 (GRCm39)		probably benign	Het
Fam83b	T	C	9: 76,410,358 (GRCm39)	N184S	probably benign	Het
Fam98c	A	G	7: 28,852,265 (GRCm39)	M98T	probably damaging	Het
Fbn1	T	C	2: 125,143,529 (GRCm39)	K2867E	probably benign	Het
Fsip2	A	T	2: 82,820,107 (GRCm39)	E5280V	possibly damaging	Het
Fuom	T	C	7: 139,679,631 (GRCm39)		probably benign	Het
Gm3476	A	T	14: 6,118,512 (GRCm38)	S204T	probably benign	Het
Grhl3	A	G	4: 135,288,617 (GRCm39)	F23L	probably benign	Het
Il4i1	G	T	7: 44,489,213 (GRCm39)	R334L	probably damaging	Het
Ipo13	A	G	4: 117,758,228 (GRCm39)	S712P	probably damaging	Het
Lama4	G	T	10: 38,932,843 (GRCm39)	S573I	probably damaging	Het
Lrp11	A	G	10: 7,480,058 (GRCm39)	H371R	probably benign	Het
Mkln1	T	A	6: 31,466,303 (GRCm39)	I520N	probably damaging	Het
Nagpa	G	T	16: 5,016,480 (GRCm39)	C236*	probably null	Het
Nktr	A	G	9: 121,556,436 (GRCm39)	N38S	probably damaging	Het
Nlrp10	G	A	7: 108,525,088 (GRCm39)	R131C	probably benign	Het
Nxpe2	T	C	9: 48,231,211 (GRCm39)	D386G	possibly damaging	Het
Prpf39	T	A	12: 65,100,740 (GRCm39)		probably benign	Het
Retreg2	A	G	1: 75,121,755 (GRCm39)		probably benign	Het
Slc12a3	G	T	8: 95,059,905 (GRCm39)	G184C	probably damaging	Het
Slc25a46	C	T	18: 31,742,807 (GRCm39)	D20N	possibly damaging	Het
Smc3	A	G	19: 53,622,509 (GRCm39)	K695E	probably benign	Het
Speer2	A	T	16: 69,653,955 (GRCm39)		probably null	Het
Taar4	T	G	10: 23,836,936 (GRCm39)	V182G	possibly damaging	Het
Ttll1	C	G	15: 83,386,326 (GRCm39)	S93T	probably benign	Het
Ubl3	A	T	5: 148,443,008 (GRCm39)		probably null	Het
Vmn2r16	A	G	5: 109,508,643 (GRCm39)	N457S	probably benign	Het
Vmn2r72	T	C	7: 85,398,396 (GRCm39)	E528G	probably benign	Het
Zfp52	A	C	17: 21,780,311 (GRCm39)	E53A	probably damaging	Het

Other mutations in S100a4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3814:S100a4	UTSW	3	90,513,152 (GRCm39)	missense	probably benign	0.39
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'- GTGTTCATCCCATAGTTTAGCCCCG -3'
(R):5'- TCCAGGTCAACTTCCAGCAGTCTC -3'

Sequencing Primer
(F):5'- TGCTTGCAAACCTTCCTGAG -3'
(R):5'- AGTAAGGCACTATGCTCACAG -3'

Posted On

2014-01-29