Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02752:Stfa3'

304214

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stfa3

Ensembl Gene

ENSMUSG00000054905

Gene Name

stefin A3

Synonyms

Stf3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

IGL02752

Quality Score

Status

Chromosome

Chromosomal Location

36270899-36275754 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 36270999 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 95 (T95I)

Ref Sequence

ENSEMBL: ENSMUSP00000067445 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068182]

AlphaFold

P35173

Predicted Effect

probably damaging
Transcript: ENSMUST00000068182
AA Change: T95I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000067445
Gene: ENSMUSG00000054905
AA Change: T95I

Domain	Start	End	E-Value	Type
CY	7	103	1.88e-15	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	A	15: 84,840,042 (GRCm39)	E145*	probably null	Het
Abca9	A	G	11: 110,018,194 (GRCm39)	F1142S	probably damaging	Het
Bod1l	T	C	5: 41,973,806 (GRCm39)	T2503A	possibly damaging	Het
Bpi	A	G	2: 158,104,344 (GRCm39)	D149G	probably damaging	Het
Cntnap5a	A	G	1: 116,508,261 (GRCm39)	T1258A	probably benign	Het
Col4a3	A	G	1: 82,637,946 (GRCm39)	D256G	unknown	Het
Cul5	T	C	9: 53,546,278 (GRCm39)	T338A	probably damaging	Het
Efs	A	G	14: 55,154,880 (GRCm39)	V453A	probably damaging	Het
Fbxw19	T	A	9: 109,323,709 (GRCm39)	N89Y	probably benign	Het
Fbxw8	A	G	5: 118,280,815 (GRCm39)	F114S	probably damaging	Het
Flnb	A	G	14: 7,917,338 (GRCm38)	I1606V	probably benign	Het
Gpr158	A	G	2: 21,831,638 (GRCm39)	T913A	possibly damaging	Het
Gtf2f1	A	T	17: 57,316,682 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,387,678 (GRCm39)	*1059L	probably null	Het
Hmgb4	T	C	4: 128,154,134 (GRCm39)	K145E	probably damaging	Het
Igf2bp2	T	A	16: 21,898,860 (GRCm39)	M250L	probably benign	Het
Igkv14-111	A	G	6: 68,233,561 (GRCm39)	K21E	probably benign	Het
Il6st	C	T	13: 112,616,729 (GRCm39)	T92I	probably damaging	Het
Jak3	G	T	8: 72,135,595 (GRCm39)	V581L	possibly damaging	Het
Kank2	C	T	9: 21,706,329 (GRCm39)	V230M	probably damaging	Het
Kif1a	G	A	1: 92,967,569 (GRCm39)	A1123V	possibly damaging	Het
Kpna4	T	A	3: 69,002,863 (GRCm39)	R125*	probably null	Het
Mybpc3	A	T	2: 90,962,982 (GRCm39)		probably null	Het
Ntn4	T	C	10: 93,546,421 (GRCm39)	V358A	possibly damaging	Het
Pacsin1	A	T	17: 27,921,672 (GRCm39)		probably null	Het
Pcsk2	A	G	2: 143,615,865 (GRCm39)	N221S	probably benign	Het
Pik3cg	A	G	12: 32,254,262 (GRCm39)	L575P	probably damaging	Het
Pkhd1	A	T	1: 20,623,815 (GRCm39)	V760E	possibly damaging	Het
Plxnc1	T	C	10: 94,630,542 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,073,341 (GRCm39)	T217A	probably benign	Het
Rictor	A	G	15: 6,816,852 (GRCm39)	T1375A	probably benign	Het
Scn1a	A	G	2: 66,161,756 (GRCm39)	I264T	probably damaging	Het
Sez6l2	T	C	7: 126,552,905 (GRCm39)	S164P	probably damaging	Het
Slc31a1	C	T	4: 62,303,869 (GRCm39)		probably benign	Het
Slc45a1	T	C	4: 150,722,478 (GRCm39)	N469D	probably benign	Het
Slco1a5	T	C	6: 142,208,438 (GRCm39)	T76A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Stk11ip	A	C	1: 75,501,325 (GRCm39)		probably null	Het
Tcn2	C	A	11: 3,876,158 (GRCm39)	S90I	possibly damaging	Het
Traf1	A	G	2: 34,848,020 (GRCm39)	S25P	probably benign	Het
Ttn	G	T	2: 76,622,125 (GRCm39)		probably benign	Het
Wdfy4	A	T	14: 32,798,283 (GRCm39)	I2041N	probably damaging	Het
Zfp512b	A	T	2: 181,229,864 (GRCm39)	D556E	possibly damaging	Het
Zfpm2	T	A	15: 40,965,415 (GRCm39)	D633E	probably benign	Het

Other mutations in Stfa3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0546:Stfa3	UTSW	16	36,272,619 (GRCm39)	splice site	probably benign
R1829:Stfa3	UTSW	16	36,271,023 (GRCm39)	missense	probably damaging	1.00
R2168:Stfa3	UTSW	16	36,271,042 (GRCm39)	nonsense	probably null
R2895:Stfa3	UTSW	16	36,272,522 (GRCm39)	missense	probably benign	0.33
R5159:Stfa3	UTSW	16	36,272,581 (GRCm39)	missense	probably damaging	1.00
R6606:Stfa3	UTSW	16	36,275,647 (GRCm39)	missense	possibly damaging	0.95

Posted On

2015-04-16