Mutagenetix > Incidental Mutation

Incidental Mutation 'R5397:S100a1'

429733

Institutional Source

Beutler Lab

Gene Symbol

S100a1

Ensembl Gene

ENSMUSG00000044080

Gene Name

S100 calcium binding protein A1

Synonyms

S100, S100a

MMRRC Submission

042968-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90418341-90421637 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to T at 90419442 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000058237 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000060738
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000058237
Gene: ENSMUSG00000044080
AA Change: M1K

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 null
Transcript: ENSMUST00000107340
AA Change: M1K

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000102963
Gene: ENSMUSG00000044080
AA Change: M1K

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: 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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,243,803 (GRCm38)	T518A	probably benign	Het
Acvr1b	T	A	15: 101,096,845 (GRCm39)	V254D	probably damaging	Het
Adar	T	C	3: 89,642,626 (GRCm39)	I169T	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Arap1	A	T	7: 101,034,119 (GRCm39)	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,002,319 (GRCm39)	M1037K	probably damaging	Het
Bsg	T	A	10: 79,544,629 (GRCm39)	W56R	probably damaging	Het
C1qtnf3	A	G	15: 10,978,627 (GRCm39)	T276A	probably damaging	Het
Capn2	A	G	1: 182,298,271 (GRCm39)	C665R	probably damaging	Het
Cast	A	G	13: 74,869,056 (GRCm39)	S248P	possibly damaging	Het
Cd68	C	T	11: 69,556,484 (GRCm39)	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,276,279 (GRCm39)	W131R	probably damaging	Het
Dhx58	A	G	11: 100,594,746 (GRCm39)	V50A	probably damaging	Het
Fam124a	A	G	14: 62,843,838 (GRCm39)	S449G	probably benign	Het
Flnc	G	A	6: 29,441,160 (GRCm39)	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gpr149	A	G	3: 62,438,226 (GRCm39)	S644P	probably damaging	Het
Gucy1b1	G	A	3: 81,951,458 (GRCm39)	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,476,080 (GRCm39)	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Lig4	G	T	8: 10,022,644 (GRCm39)	R379S	probably benign	Het
Map7	G	A	10: 20,149,067 (GRCm39)	R514Q	unknown	Het
Mertk	T	A	2: 128,613,384 (GRCm39)	F467I	possibly damaging	Het
Mettl4	A	T	17: 95,034,705 (GRCm39)	Y463*	probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Nme8	T	C	13: 19,878,549 (GRCm39)	D70G	probably damaging	Het
Npat	A	G	9: 53,481,774 (GRCm39)	N1161D	probably damaging	Het
Or4k77	T	A	2: 111,199,285 (GRCm39)	C103S	probably benign	Het
Or51ac3	T	A	7: 103,213,713 (GRCm39)	I258F	probably damaging	Het
Or6c76b	T	C	10: 129,692,579 (GRCm39)	F64S	probably damaging	Het
Paxip1	A	T	5: 27,977,002 (GRCm39)		probably benign	Het
Peg10	C	CTCG	6: 4,756,453 (GRCm39)		probably benign	Het
Plxnc1	T	C	10: 94,679,614 (GRCm39)	T923A	probably benign	Het
Pms1	T	A	1: 53,231,279 (GRCm39)	K857*	probably null	Het
Ppp1r9b	A	G	11: 94,892,936 (GRCm39)	E260G	probably damaging	Het
Prpf3	A	T	3: 95,760,891 (GRCm39)	S4T	probably benign	Het
Rdh14	T	A	12: 10,444,869 (GRCm39)	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 138,680,599 (GRCm39)		probably benign	Het
Slc2a5	G	A	4: 150,224,280 (GRCm39)		probably null	Het
Slc5a5	T	C	8: 71,343,823 (GRCm39)	T160A	probably damaging	Het
Srcap	T	G	7: 127,152,468 (GRCm39)		probably null	Het
Tgm6	T	A	2: 129,983,828 (GRCm39)	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,552,600 (GRCm39)	A201V	probably benign	Het
Trgv5	A	C	13: 19,376,728 (GRCm39)	E42D	possibly damaging	Het
Ttc13	T	C	8: 125,402,002 (GRCm39)	T662A	possibly damaging	Het
Ttn	T	C	2: 76,555,599 (GRCm39)	T30469A	probably damaging	Het
Ube3a	T	A	7: 58,936,660 (GRCm39)	S645R	probably benign	Het
Vgll2	A	G	10: 51,901,262 (GRCm39)	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,956,060 (GRCm39)	C76*	probably null	Het
Vmn2r101	A	G	17: 19,809,104 (GRCm39)	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,223,344 (GRCm39)		probably benign	Het
Zcchc7	C	A	4: 44,926,048 (GRCm39)	A28E	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
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
R4615:S100a1	UTSW	3	90,418,562 (GRCm39)	missense	possibly damaging	0.63
R7852:S100a1	UTSW	3	90,419,392 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CATTGTGACAAGCTGGGAAC -3'
(R):5'- GTGCTAGGGTTTCTCCTACACTG -3'

Sequencing Primer
(F):5'- ATTTGAGTTCAAGGCCAGCC -3'
(R):5'- AGGGTTTCTCCTACACTGCAAAATC -3'

Posted On

2016-09-06