Mutagenetix > Incidental Mutation

Incidental Mutation 'R1183:S100a1'

101703

Institutional Source

Beutler Lab

Gene Symbol

S100a1

Ensembl Gene

ENSMUSG00000044080

Gene Name

S100 calcium binding protein A1

Synonyms

S100, S100a

MMRRC Submission

039255-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1183 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90418341-90421637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90418641 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 58 (V58I)

Ref Sequence

ENSEMBL: ENSMUSP00000058237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001043] [ENSMUST00000048138] [ENSMUST00000049937] [ENSMUST00000060738] [ENSMUST00000076639] [ENSMUST00000107340] [ENSMUST00000107342] [ENSMUST00000131868] [ENSMUST00000146740] [ENSMUST00000107344] [ENSMUST00000107346] [ENSMUST00000107343]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000001043

SMART Domains

Protein: ENSMUSP00000001043
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	62	84	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
FoP_duplication	133	221	3.35e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000048138

SMART Domains

Protein: ENSMUSP00000047737
Gene: ENSMUSG00000042312

Domain	Start	End	E-Value	Type
Pfam:S_100	71	113	4.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049937

SMART Domains

Protein: ENSMUSP00000061800
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
low complexity region	111	131	N/A	INTRINSIC
FoP_duplication	158	246	3.35e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060738
AA Change: V58I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058237
Gene: ENSMUSG00000044080
AA Change: V58I

Domain	Start	End	E-Value	Type
Pfam:S_100	5	47	5.8e-23	PFAM
Pfam:EF-hand_1	54	82	1.3e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000076639

SMART Domains

Protein: ENSMUSP00000075936
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
Blast:FoP_duplication	59	84	3e-6	BLAST
low complexity region	86	108	N/A	INTRINSIC
FoP_duplication	114	199	1.21e-24	SMART

Predicted Effect

silent
Transcript: ENSMUST00000107340

SMART Domains

Protein: ENSMUSP00000102963
Gene: ENSMUSG00000044080

Domain	Start	End	E-Value	Type
Pfam:S_100	5	48	1.5e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107342

SMART Domains

Protein: ENSMUSP00000102965
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
Blast:FoP_duplication	34	59	3e-6	BLAST
low complexity region	61	83	N/A	INTRINSIC
FoP_duplication	89	174	1.21e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131868

SMART Domains

Protein: ENSMUSP00000123448
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
low complexity region	111	122	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146740

SMART Domains

Protein: ENSMUSP00000116945
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	115	137	N/A	INTRINSIC
low complexity region	139	159	N/A	INTRINSIC
low complexity region	177	195	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107344

SMART Domains

Protein: ENSMUSP00000102967
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	62	84	N/A	INTRINSIC
low complexity region	86	106	N/A	INTRINSIC
FoP_duplication	133	221	3.35e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107346

SMART Domains

Protein: ENSMUSP00000102969
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	38	58	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	87	109	N/A	INTRINSIC
FoP_duplication	115	200	1.21e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107343

SMART Domains

Protein: ENSMUSP00000102966
Gene: ENSMUSG00000001017

Domain	Start	End	E-Value	Type
low complexity region	13	33	N/A	INTRINSIC
low complexity region	44	58	N/A	INTRINSIC
low complexity region	62	84	N/A	INTRINSIC
FoP_duplication	90	175	1.21e-24	SMART

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

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 stimulation of Ca2+-induced Ca2+ release, inhibition of microtubule assembly, and inhibition of protein kinase C-mediated phosphorylation. Reduced expression of this protein has been implicated in cardiomyopathies. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous and heterozygous mice exhibit a reduced cardiac contractility in response to chronic hemodynamic stress. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	G	8: 111,768,206 (GRCm39)	Y192*	probably null	Het
Abcc6	T	C	7: 45,634,677 (GRCm39)	Y1100C	probably damaging	Het
Adamtsl2	T	C	2: 26,974,092 (GRCm39)	W132R	probably damaging	Het
Adgra2	T	A	8: 27,604,416 (GRCm39)	V497E	probably damaging	Het
Adtrp	T	G	13: 41,981,813 (GRCm39)		probably benign	Het
Alg9	T	A	9: 50,700,833 (GRCm39)	L201Q	possibly damaging	Het
Ap4e1	T	A	2: 126,856,121 (GRCm39)	I84K	probably damaging	Het
Atrnl1	T	C	19: 57,638,725 (GRCm39)	S288P	probably damaging	Het
Bltp1	T	A	3: 36,949,452 (GRCm39)	L366Q	possibly damaging	Het
Cacna1a	A	G	8: 85,306,846 (GRCm39)	D1367G	probably damaging	Het
Card19	C	T	13: 49,358,727 (GRCm39)	R82Q	probably damaging	Het
Cep128	T	C	12: 91,292,372 (GRCm39)	I226V	possibly damaging	Het
Ces1f	A	C	8: 93,994,633 (GRCm39)	D259E	probably benign	Het
Ckap5	T	A	2: 91,416,611 (GRCm39)	M1072K	probably benign	Het
Dcpp2	T	A	17: 24,119,468 (GRCm39)	V94D	probably benign	Het
Dnah2	T	C	11: 69,337,474 (GRCm39)	D3209G	possibly damaging	Het
Dsg1c	A	G	18: 20,416,255 (GRCm39)	T719A	probably damaging	Het
Dsp	G	A	13: 38,375,716 (GRCm39)	W1167*	probably null	Het
Eml5	T	C	12: 98,758,305 (GRCm39)	I1874V	probably benign	Het
Epg5	A	G	18: 78,003,926 (GRCm39)	T645A	probably damaging	Het
F2rl2	T	C	13: 95,837,621 (GRCm39)	L222S	probably damaging	Het
Fam114a1	T	A	5: 65,191,731 (GRCm39)	C495S	probably damaging	Het
Fbn1	A	T	2: 125,163,537 (GRCm39)	D2106E	probably benign	Het
Fgf14	T	A	14: 124,913,936 (GRCm39)	N65I	probably benign	Het
Fip1l1	T	C	5: 74,755,763 (GRCm39)	Y497H	probably damaging	Het
Fn1	A	C	1: 71,625,404 (GRCm39)	D2376E	probably damaging	Het
Foxd2	T	C	4: 114,764,662 (GRCm39)	T453A	possibly damaging	Het
Galnt1	G	T	18: 24,404,647 (GRCm39)	W328L	probably damaging	Het
Gapt	A	G	13: 110,490,372 (GRCm39)	V97A	possibly damaging	Het
Gatad1	A	G	5: 3,693,707 (GRCm39)	V154A	possibly damaging	Het
Gdf15	A	G	8: 71,084,202 (GRCm39)	F21L	probably benign	Het
Igdcc4	T	C	9: 65,029,182 (GRCm39)	F273S	possibly damaging	Het
Invs	A	T	4: 48,421,725 (GRCm39)	R786W	possibly damaging	Het
Itfg1	T	G	8: 86,507,152 (GRCm39)	E236A	probably benign	Het
Jak3	A	T	8: 72,137,194 (GRCm39)	I752F	probably damaging	Het
Kcnip3	C	A	2: 127,306,985 (GRCm39)	G144W	probably damaging	Het
Kctd19	T	C	8: 106,109,598 (GRCm39)	H925R	probably benign	Het
Kdr	C	T	5: 76,107,511 (GRCm39)	A1011T	probably damaging	Het
Kif13b	C	A	14: 65,019,826 (GRCm39)	H1398Q	probably benign	Het
Lrp4	A	T	2: 91,307,864 (GRCm39)		probably null	Het
Lrtm2	T	C	6: 119,297,846 (GRCm39)	D65G	probably benign	Het
Lyz1	A	G	10: 117,128,715 (GRCm39)	L10P	probably damaging	Het
Metap2	A	T	10: 93,706,046 (GRCm39)	N245K	probably damaging	Het
Mms19	T	C	19: 41,943,270 (GRCm39)	D297G	possibly damaging	Het
Mocs3	A	G	2: 168,073,573 (GRCm39)	D340G	possibly damaging	Het
Mtfr1l	A	G	4: 134,256,436 (GRCm39)	L243P	probably damaging	Het
Mtss1	A	G	15: 58,842,897 (GRCm39)	I105T	probably damaging	Het
Myo18a	T	C	11: 77,748,571 (GRCm39)	S1967P	probably damaging	Het
Ncor2	T	C	5: 125,100,585 (GRCm39)	N2248S	possibly damaging	Het
Nfatc2	T	C	2: 168,432,008 (GRCm39)	D35G	possibly damaging	Het
Nup210l	T	A	3: 90,067,252 (GRCm39)	M764K	probably benign	Het
Or10a3n	A	G	7: 108,492,948 (GRCm39)	L222P	probably damaging	Het
Otof	T	C	5: 30,529,256 (GRCm39)	S1753G	probably damaging	Het
Otog	G	A	7: 45,939,179 (GRCm39)	V2070I	probably benign	Het
Piezo2	A	G	18: 63,219,824 (GRCm39)	V961A	probably damaging	Het
Pofut1	C	T	2: 153,103,158 (GRCm39)	S169L	probably benign	Het
Ppp1r10	T	A	17: 36,240,335 (GRCm39)	S542T	possibly damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Ptges3l	T	C	11: 101,312,731 (GRCm39)	D113G	possibly damaging	Het
Pycr3	G	A	15: 75,790,647 (GRCm39)	L71F	probably benign	Het
Ramp3	A	G	11: 6,624,867 (GRCm39)	K54E	possibly damaging	Het
Rbpms	C	A	8: 34,294,100 (GRCm39)	Q214H	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo4	C	A	9: 37,319,348 (GRCm39)	D565E	probably damaging	Het
Setx	T	A	2: 29,070,104 (GRCm39)	D2636E	probably benign	Het
Sun2	A	T	15: 79,612,669 (GRCm39)	V417E	probably damaging	Het
Tbccd1	T	C	16: 22,660,519 (GRCm39)	N99S	probably benign	Het
Tex15	A	G	8: 34,064,893 (GRCm39)	D1441G	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Trim32	A	G	4: 65,532,628 (GRCm39)	Y395C	probably benign	Het
Trpm2	A	G	10: 77,759,398 (GRCm39)	Y1129H	probably damaging	Het
Trpm8	A	T	1: 88,275,813 (GRCm39)	R470S	probably damaging	Het
Tsg101	G	T	7: 46,539,372 (GRCm39)	D389E	probably benign	Het
Ubn1	T	C	16: 4,882,406 (GRCm39)	L46P	probably damaging	Het
Ubr5	T	C	15: 37,997,419 (GRCm39)	I1745V	possibly damaging	Het
Usp20	T	C	2: 30,901,797 (GRCm39)	Y521H	probably benign	Het
Vmn1r159	A	T	7: 22,543,019 (GRCm39)	H4Q	probably null	Het
Vmn2r27	T	A	6: 124,177,491 (GRCm39)	E504D	probably benign	Het
Wdr72	A	T	9: 74,086,867 (GRCm39)	I612F	probably benign	Het
Zbtb8a	T	C	4: 129,251,520 (GRCm39)	H317R	possibly damaging	Het
Zfp507	T	C	7: 35,494,315 (GRCm39)	S243G	probably damaging	Het
Zfp764	A	G	7: 127,005,419 (GRCm39)	W73R	probably damaging	Het
Zmym4	A	T	4: 126,819,632 (GRCm39)	D90E	probably damaging	Het

Other mutations in S100a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1061:S100a1	UTSW	3	90,418,619 (GRCm39)	missense	probably damaging	0.96
R1766:S100a1	UTSW	3	90,418,599 (GRCm39)	missense	probably damaging	1.00
R2282:S100a1	UTSW	3	90,418,599 (GRCm39)	missense	probably damaging	1.00
R4615:S100a1	UTSW	3	90,418,562 (GRCm39)	missense	possibly damaging	0.63
R5397:S100a1	UTSW	3	90,419,442 (GRCm39)	start codon destroyed	probably null	1.00
R7852:S100a1	UTSW	3	90,419,392 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGATCTGGACTGCCACTCTTGTGC -3'
(R):5'- GTCTGTAAGGTTCCCAGCTTGTCAC -3'

Sequencing Primer
(F):5'- TGCACGTCGAGACTGGG -3'
(R):5'- agccatctcaccagtccc -3'

Posted On

2014-01-15