Mutagenetix > Incidental Mutation

Incidental Mutation 'R8462:S100a11'

656597

Institutional Source

Beutler Lab

Gene Symbol

S100a11

Ensembl Gene

ENSMUSG00000027907

Gene Name

S100 calcium binding protein A11

Synonyms

calgizzarin, cal, Emap1, S100a14, S100c

MMRRC Submission

067906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R8462 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93427803-93433595 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93433422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 89 (S89P)

Ref Sequence

ENSEMBL: ENSMUSP00000029515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029515]

AlphaFold

P50543

Predicted Effect

probably benign
Transcript: ENSMUST00000029515
AA Change: S89P

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000029515
Gene: ENSMUSG00000027907
AA Change: S89P

Domain	Start	End	E-Value	Type
Pfam:S_100	5	47	3.6e-21	PFAM
Pfam:EF-hand_7	22	79	7e-10	PFAM
Pfam:EF-hand_1	54	82	1.1e-8	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (40/40)

MGI Phenotype

PHENOTYPE: Mice dwith disruptions in this gene display no obvious phenotype abnormalities other than reduced sperm counts in males. [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
4930544G11Rik	T	C	6: 65,930,074 (GRCm39)	V103A	possibly damaging	Het
Abcb11	T	C	2: 69,104,499 (GRCm39)	N729S	probably benign	Het
Ap2a2	T	A	7: 141,210,394 (GRCm39)	N883K	probably damaging	Het
Atr	T	C	9: 95,749,579 (GRCm39)	I464T	probably benign	Het
Atrn	T	A	2: 130,777,504 (GRCm39)	H184Q	probably damaging	Het
Bmp5	A	G	9: 75,746,874 (GRCm39)	D244G	probably benign	Het
Celsr2	C	A	3: 108,320,167 (GRCm39)	E882*	probably null	Het
Cfap58	T	A	19: 47,972,089 (GRCm39)	V673E	possibly damaging	Het
Chl1	A	G	6: 103,706,130 (GRCm39)	N1155S	probably benign	Het
Colgalt2	C	A	1: 152,378,823 (GRCm39)	H416Q	probably damaging	Het
Dab1	C	T	4: 104,561,404 (GRCm39)	L230F	probably benign	Het
Dixdc1	G	T	9: 50,622,079 (GRCm39)	S84*	probably null	Het
Dnah8	A	G	17: 30,875,603 (GRCm39)	D475G	probably damaging	Het
Egr2	T	A	10: 67,374,173 (GRCm39)	N54K	probably null	Het
Grm3	T	C	5: 9,562,365 (GRCm39)	D495G	probably benign	Het
Kif1b	G	A	4: 149,266,797 (GRCm39)	T1629I	probably benign	Het
Klf2	A	T	8: 73,073,373 (GRCm39)	N59I	probably benign	Het
Krt86	T	C	15: 101,377,284 (GRCm39)	V436A	probably benign	Het
Lrrk2	T	C	15: 91,615,680 (GRCm39)	V838A	probably benign	Het
Ltbp1	T	C	17: 75,620,069 (GRCm39)	S786P	probably damaging	Het
Matk	C	G	10: 81,097,859 (GRCm39)	R315G	probably damaging	Het
Meikin	T	C	11: 54,290,666 (GRCm39)	V249A	probably benign	Het
Mrnip	A	G	11: 50,090,654 (GRCm39)	R273G	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 67,313,200 (GRCm39)		probably benign	Het
Nsd1	T	A	13: 55,446,189 (GRCm39)		probably null	Het
Pitpnm1	A	T	19: 4,155,135 (GRCm39)	H321L	probably benign	Het
Plekhm2	T	C	4: 141,367,130 (GRCm39)	Y170C	probably damaging	Het
Ralgapa1	T	C	12: 55,723,303 (GRCm39)	D2197G	possibly damaging	Het
Rmdn2	C	T	17: 79,978,053 (GRCm39)	T338M	probably damaging	Het
Rps10	A	G	17: 27,853,208 (GRCm39)	S54P	probably damaging	Het
Sh3yl1	T	C	12: 30,992,072 (GRCm39)	Y176H	probably damaging	Het
Sppl2c	G	T	11: 104,077,532 (GRCm39)	A111S	possibly damaging	Het
Stab2	T	C	10: 86,803,598 (GRCm39)	E317G	possibly damaging	Het
Stim1	A	G	7: 102,076,324 (GRCm39)	E425G	probably damaging	Het
Stxbp1	C	T	2: 32,707,293 (GRCm39)		probably null	Het
Traf6	G	A	2: 101,527,801 (GRCm39)	R517Q	probably damaging	Het
Ttn	A	G	2: 76,804,387 (GRCm39)	V295A	probably damaging	Het
Vps45	A	T	3: 95,941,091 (GRCm39)	D383E	possibly damaging	Het
Zfp984	A	G	4: 147,839,796 (GRCm39)	C352R	probably damaging	Het

Other mutations in S100a11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01473:S100a11	APN	3	93,433,413 (GRCm39)	missense	probably damaging	1.00
IGL02663:S100a11	APN	3	93,431,464 (GRCm39)	missense	probably damaging	1.00
R0077:S100a11	UTSW	3	93,431,509 (GRCm39)	splice site	probably null
R1826:S100a11	UTSW	3	93,433,428 (GRCm39)	missense	probably benign	0.01
R1827:S100a11	UTSW	3	93,433,428 (GRCm39)	missense	probably benign	0.01
R1828:S100a11	UTSW	3	93,433,428 (GRCm39)	missense	probably benign	0.01
R2034:S100a11	UTSW	3	93,433,429 (GRCm39)	missense	probably benign
R4624:S100a11	UTSW	3	93,433,321 (GRCm39)	missense	probably damaging	1.00
R7505:S100a11	UTSW	3	93,433,339 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GGCAGCATATTAAGAGGCACCG -3'
(R):5'- TACCAGCTTCCATGTCACAC -3'

Sequencing Primer
(F):5'- CATATTAAGAGGCACCGAAGAAAGTG -3'
(R):5'- TCCCTTACACAAATCTACTGACTC -3'

Posted On

2021-01-18