Mutagenetix > Incidental Mutation

Incidental Mutation 'R4615:S100a1'

345006

Institutional Source

Beutler Lab

Gene Symbol

S100a1

Ensembl Gene

ENSMUSG00000044080

Gene Name

S100 calcium binding protein A1

Synonyms

S100, S100a

MMRRC Submission

041826-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4615 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90418341-90421637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90418562 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 84 (V84A)

Ref Sequence

ENSEMBL: ENSMUSP00000058237 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000060738
AA Change: V84A

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000058237
Gene: ENSMUSG00000044080
AA Change: V84A

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

probably benign
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: 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

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: 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: 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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Abcc9	C	G	6: 142,634,833 (GRCm39)	A144P	possibly damaging	Het
Adgrv1	C	T	13: 81,642,688 (GRCm39)		probably null	Het
Adprhl1	A	G	8: 13,292,250 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,919,598 (GRCm39)	E119D	probably benign	Het
Atp8b1	T	C	18: 64,686,170 (GRCm39)	N671S	probably null	Het
C9	A	G	15: 6,520,944 (GRCm39)	D51G	probably damaging	Het
Carmil2	A	G	8: 106,421,706 (GRCm39)	D1019G	possibly damaging	Het
Cdh8	A	T	8: 100,006,254 (GRCm39)	I111K	probably damaging	Het
Cep120	T	C	18: 53,847,913 (GRCm39)	R649G	probably damaging	Het
Clptm1l	A	T	13: 73,755,857 (GRCm39)	K158*	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cnga1	A	C	5: 72,762,117 (GRCm39)	L466V	probably damaging	Het
Cpsf1	T	C	15: 76,481,137 (GRCm39)	T1240A	possibly damaging	Het
Cubn	A	G	2: 13,433,560 (GRCm39)	S1117P	probably damaging	Het
Cyp2b9	T	A	7: 25,900,550 (GRCm39)	L396Q	probably damaging	Het
Cyp8b1	A	T	9: 121,745,164 (GRCm39)	L56*	probably null	Het
Dcbld2	A	G	16: 58,276,457 (GRCm39)	T458A	probably benign	Het
Dio2	G	T	12: 90,696,595 (GRCm39)	P131Q	probably damaging	Het
Dlg5	T	C	14: 24,208,236 (GRCm39)	Y990C	probably damaging	Het
Dsc3	T	C	18: 20,104,545 (GRCm39)	D594G	possibly damaging	Het
Dsp	A	G	13: 38,375,608 (GRCm39)	E1131G	probably damaging	Het
Fdx1	A	T	9: 51,859,945 (GRCm39)	Y21*	probably null	Het
Gal3st4	A	G	5: 138,264,525 (GRCm39)	V158A	probably damaging	Het
Gm10269	T	A	18: 20,815,820 (GRCm39)	E67D	probably benign	Het
Gm5773	A	G	3: 93,681,339 (GRCm39)	H337R	probably benign	Het
Gng2	C	T	14: 19,941,395 (GRCm39)	V16I	possibly damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Ighv1-82	T	C	12: 115,916,280 (GRCm39)	T77A	probably benign	Het
Itprid2	A	G	2: 79,492,726 (GRCm39)	E1091G	probably damaging	Het
Lama2	C	A	10: 26,857,520 (GRCm39)	V3110F	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr4	T	C	11: 87,501,761 (GRCm39)	L548S	probably damaging	Het
Ncapg	A	T	5: 45,844,741 (GRCm39)	M579L	probably benign	Het
Oog3	A	T	4: 143,884,899 (GRCm39)	Y346N	probably benign	Het
Or10ak14	T	C	4: 118,611,334 (GRCm39)	T134A	probably benign	Het
Or14c39	T	C	7: 86,343,936 (GRCm39)	S91P	probably damaging	Het
Orm2	A	G	4: 63,281,536 (GRCm39)	D89G	probably damaging	Het
Pcdhb4	T	A	18: 37,441,553 (GRCm39)	S288T	probably benign	Het
Pcsk2	G	T	2: 143,637,889 (GRCm39)	C375F	probably damaging	Het
Pdcd10	T	C	3: 75,428,398 (GRCm39)	I138M	probably damaging	Het
Pde8a	T	C	7: 80,970,485 (GRCm39)	W536R	probably damaging	Het
Phkg2	C	T	7: 127,176,792 (GRCm39)	R61W	probably damaging	Het
Plcl1	A	T	1: 55,737,293 (GRCm39)	N878I	probably benign	Het
Prkdc	A	T	16: 15,480,938 (GRCm39)	D353V	probably damaging	Het
Psme4	C	T	11: 30,784,287 (GRCm39)	T954I	probably benign	Het
Ran	A	G	5: 129,099,162 (GRCm39)	I115V	probably benign	Het
Reln	A	G	5: 22,177,870 (GRCm39)	L1867P	possibly damaging	Het
Sall2	G	A	14: 52,550,207 (GRCm39)	P994L	probably benign	Het
Shtn1	A	T	19: 59,010,648 (GRCm39)	I273N	probably benign	Het
Slc17a9	T	C	2: 180,373,699 (GRCm39)	I40T	probably benign	Het
Slc29a2	T	C	19: 5,079,292 (GRCm39)	V305A	probably damaging	Het
Taar2	T	A	10: 23,817,263 (GRCm39)	F268I	probably benign	Het
Taf3	G	A	2: 9,956,901 (GRCm39)	T422I	probably damaging	Het
Tgs1	T	C	4: 3,585,156 (GRCm39)	F99L	probably damaging	Het
Tox2	T	C	2: 163,162,567 (GRCm39)	L479P	probably damaging	Het
Ttn	A	G	2: 76,597,219 (GRCm39)	I19898T	probably damaging	Het
Ulk1	G	T	5: 110,936,912 (GRCm39)	T3N	probably damaging	Het
Vars1	A	T	17: 35,232,857 (GRCm39)	K900N	probably damaging	Het
Vmn2r15	A	G	5: 109,441,348 (GRCm39)	V170A	possibly damaging	Het
Vmn2r53	A	T	7: 12,316,229 (GRCm39)	L530Q	probably damaging	Het
Zar1l	G	T	5: 150,441,528 (GRCm39)	Q33K	probably benign	Het
Zdhhc16	T	C	19: 41,932,122 (GRCm39)	V358A	possibly 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
R1183:S100a1	UTSW	3	90,418,641 (GRCm39)	missense	probably benign
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
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'- TCTGGACTGCCACTCTTGTG -3'
(R):5'- TCACCAGTTCTTAACTCACCAG -3'

Sequencing Primer
(F):5'- TGCCCTTGGTGCACGTC -3'
(R):5'- GTCTTTAAGGTTGTAGAAGACTCCC -3'

Posted On

2015-09-25