Mutagenetix > Incidental Mutation

Incidental Mutation 'R1061:S100a1'

94448

Institutional Source

Beutler Lab

Gene Symbol

S100a1

Ensembl Gene

ENSMUSG00000044080

Gene Name

S100 calcium binding protein A1

Synonyms

S100, S100a

MMRRC Submission

039147-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1061 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

90418341-90421637 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90418619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 65 (N65S)

Ref Sequence

ENSEMBL: ENSMUSP00000058237 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000060738
AA Change: N65S

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058237
Gene: ENSMUSG00000044080
AA Change: N65S

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: 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

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

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.1%

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
Abcb11	C	T	2: 69,108,153 (GRCm39)	A715T	probably benign	Het
Ampd2	A	G	3: 107,983,005 (GRCm39)	Y641H	probably damaging	Het
Aqp4	A	T	18: 15,531,248 (GRCm39)	V171E	probably damaging	Het
Arid4a	T	A	12: 71,121,729 (GRCm39)	S381R	probably damaging	Het
Armc8	T	G	9: 99,419,784 (GRCm39)	N51H	probably damaging	Het
Asic5	T	A	3: 81,928,308 (GRCm39)	Y424N	probably damaging	Het
Bcl11a	A	T	11: 24,114,069 (GRCm39)	K471*	probably null	Het
Birc6	A	G	17: 74,996,307 (GRCm39)	T4494A	probably damaging	Het
Btbd9	A	G	17: 30,746,409 (GRCm39)	I139T	probably benign	Het
Ccdc60	C	A	5: 116,310,527 (GRCm39)	R178S	possibly damaging	Het
Cd163	C	T	6: 124,286,128 (GRCm39)	A226V	probably benign	Het
Cibar2	C	A	8: 120,896,443 (GRCm39)		probably null	Het
Cog1	T	G	11: 113,542,863 (GRCm39)	S170A	probably benign	Het
Cwc15	T	C	9: 14,419,211 (GRCm39)	L169P	probably damaging	Het
Cyp3a25	A	T	5: 145,923,643 (GRCm39)	D333E	probably benign	Het
Ddc	C	T	11: 11,779,132 (GRCm39)	V331I	probably benign	Het
Dlc1	T	A	8: 37,325,205 (GRCm39)	T367S	probably benign	Het
Dnah17	T	C	11: 117,943,514 (GRCm39)	D3183G	possibly damaging	Het
Eif2a	T	A	3: 58,452,486 (GRCm39)	Y165*	probably null	Het
Eml6	T	C	11: 29,727,267 (GRCm39)	D1285G	probably damaging	Het
Fasn	T	C	11: 120,713,008 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,187,883 (GRCm39)	T1549A	probably benign	Het
Fezf2	T	C	14: 12,342,713 (GRCm38)	Y384C	probably damaging	Het
Flvcr1	A	T	1: 190,740,370 (GRCm39)	V550E	probably benign	Het
Gcm2	A	G	13: 41,259,347 (GRCm39)	W41R	probably damaging	Het
Gli2	A	T	1: 118,782,247 (GRCm39)	M160K	possibly damaging	Het
Gpr61	C	T	3: 108,057,623 (GRCm39)	R346H	probably damaging	Het
Hoxa5	A	T	6: 52,181,135 (GRCm39)	S66T	probably benign	Het
Hsph1	A	T	5: 149,541,883 (GRCm39)	V781D	possibly damaging	Het
Kdm3b	G	A	18: 34,929,915 (GRCm39)	V220M	probably damaging	Het
Klhl25	T	A	7: 75,516,268 (GRCm39)	Y391*	probably null	Het
Mc2r	A	T	18: 68,540,880 (GRCm39)	Y138N	probably damaging	Het
Mtap	C	A	4: 89,074,821 (GRCm39)	D106E	probably benign	Het
Nup43	G	T	10: 7,543,435 (GRCm39)	W37L	probably damaging	Het
Nxpe2	T	A	9: 48,237,663 (GRCm39)	E197D	probably damaging	Het
Odad1	T	C	7: 45,591,179 (GRCm39)	I218T	probably damaging	Het
Or10d1c	C	A	9: 38,893,779 (GRCm39)	C187F	probably damaging	Het
Or55b4	T	A	7: 102,133,321 (GRCm39)	*335C	probably null	Het
Or5p60	T	C	7: 107,723,663 (GRCm39)	Y269C	probably damaging	Het
Or8h8	A	T	2: 86,753,126 (GRCm39)	V250D	possibly damaging	Het
Pitrm1	A	G	13: 6,605,611 (GRCm39)	H186R	probably damaging	Het
Pklr	C	T	3: 89,052,188 (GRCm39)	R467C	probably damaging	Het
Plxna2	A	G	1: 194,326,401 (GRCm39)	N112D	probably damaging	Het
Ppp1r16a	C	T	15: 76,577,869 (GRCm39)	Q328*	probably null	Het
Ppp3cb	A	C	14: 20,558,682 (GRCm39)		probably null	Het
R3hcc1l	C	T	19: 42,571,865 (GRCm39)	R135*	probably null	Het
Ralyl	A	C	3: 14,180,761 (GRCm39)	D68A	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,624,729 (GRCm39)	M531K	probably damaging	Het
Slc5a5	T	A	8: 71,342,865 (GRCm39)	M232L	probably benign	Het
Tet3	A	T	6: 83,350,305 (GRCm39)	N1054K	probably damaging	Het
Tg	A	G	15: 66,570,408 (GRCm39)	N1427D	probably benign	Het
Tns1	A	C	1: 73,956,831 (GRCm39)	V530G	probably damaging	Het
Trcg1	C	A	9: 57,153,156 (GRCm39)	Q600K	possibly damaging	Het
Tshz3	A	G	7: 36,468,131 (GRCm39)	E40G	probably damaging	Het
Usp34	T	C	11: 23,334,420 (GRCm39)	F1138S	possibly damaging	Het
Vmn2r26	C	T	6: 124,038,603 (GRCm39)	T726I	probably benign	Het
Vmn2r97	A	T	17: 19,148,440 (GRCm39)	R112*	probably null	Het
Vwa2	G	T	19: 56,897,426 (GRCm39)	R577L	probably benign	Het
Vwa3b	A	C	1: 37,196,511 (GRCm39)	Q46P	probably damaging	Het
Wdr25	T	A	12: 108,958,725 (GRCm39)		probably null	Het
Wrap53	A	G	11: 69,453,226 (GRCm39)	L405P	probably damaging	Het
Zfp629	C	A	7: 127,211,161 (GRCm39)	W216L	probably damaging	Het

Other mutations in S100a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2014-01-05