Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01154:Stfa2l1'

52984

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stfa2l1

Ensembl Gene

ENSMUSG00000059657

Gene Name

stefin A2 like 1

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

IGL01154

Quality Score

Status

Chromosome

Chromosomal Location

35977181-35982318 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 35980307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000078181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079184]

AlphaFold

Q8BWM3

Predicted Effect

probably benign
Transcript: ENSMUST00000079184

SMART Domains

Protein: ENSMUSP00000078181
Gene: ENSMUSG00000059657

Domain	Start	End	E-Value	Type
CY	7	103	2.07e-17	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000157410

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
2210408I21Rik	T	G	13: 77,429,213 (GRCm39)	F767V	probably benign	Het
A2m	C	A	6: 121,650,501 (GRCm39)	S1203*	probably null	Het
Abcc3	T	C	11: 94,250,058 (GRCm39)		probably benign	Het
Adamts13	T	C	2: 26,896,206 (GRCm39)	Y1200H	probably benign	Het
Aldh1l2	T	C	10: 83,356,237 (GRCm39)	D51G	probably damaging	Het
Apc2	A	G	10: 80,148,903 (GRCm39)	E1319G	possibly damaging	Het
Arap3	A	T	18: 38,129,787 (GRCm39)	S125T	probably benign	Het
Atp2b1	T	A	10: 98,832,750 (GRCm39)	V417E	probably damaging	Het
Bpifa1	T	A	2: 153,985,920 (GRCm39)	D78E	probably benign	Het
Catsperb	C	A	12: 101,591,940 (GRCm39)	A1090E	possibly damaging	Het
Ceacam9	C	A	7: 16,457,886 (GRCm39)	T138K	probably damaging	Het
Cenpf	T	A	1: 189,412,530 (GRCm39)	E244D	probably benign	Het
Cep135	A	T	5: 76,754,643 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Col15a1	A	C	4: 47,208,450 (GRCm39)	T6P	possibly damaging	Het
Cyp11b1	T	A	15: 74,710,383 (GRCm39)	Q306L	probably benign	Het
Defa22	T	A	8: 21,653,053 (GRCm39)		probably null	Het
Dnah5	A	T	15: 28,458,802 (GRCm39)	T4480S	possibly damaging	Het
Fastkd1	T	C	2: 69,520,404 (GRCm39)		probably null	Het
Flt1	A	G	5: 147,512,966 (GRCm39)	Y1124H	possibly damaging	Het
Fsd1l	A	G	4: 53,701,074 (GRCm39)	M469V	probably benign	Het
Fxr2	T	C	11: 69,532,259 (GRCm39)		probably benign	Het
Gm10801	A	T	2: 98,494,328 (GRCm39)	Y135F	probably benign	Het
Grm4	A	T	17: 27,653,711 (GRCm39)	C699*	probably null	Het
Hcn4	A	G	9: 58,766,362 (GRCm39)	T677A	unknown	Het
Igkv9-123	G	T	6: 67,931,518 (GRCm39)		probably benign	Het
Irf4	T	A	13: 30,941,404 (GRCm39)	H253Q	possibly damaging	Het
Jakmip2	T	C	18: 43,723,744 (GRCm39)		probably benign	Het
Kmt2c	A	G	5: 25,489,397 (GRCm39)	V1134A	probably damaging	Het
Limch1	G	T	5: 66,903,301 (GRCm39)	E17*	probably null	Het
Nap1l1	T	A	10: 111,322,536 (GRCm39)	N72K	probably damaging	Het
Or4x11	T	C	2: 89,867,812 (GRCm39)	L183P	probably damaging	Het
Or51t4	T	C	7: 102,598,046 (GRCm39)	S115P	probably damaging	Het
Otud6b	A	T	4: 14,811,732 (GRCm39)	Y304N	probably damaging	Het
Pdcd10	A	C	3: 75,448,540 (GRCm39)	M8R	probably damaging	Het
Ppip5k1	T	C	2: 121,173,660 (GRCm39)	T404A	probably damaging	Het
Ppp2r2d	C	T	7: 138,483,940 (GRCm39)	A197V	probably benign	Het
Psg25	C	T	7: 18,258,624 (GRCm39)	D351N	probably benign	Het
Sbno1	A	T	5: 124,548,312 (GRCm39)	I87N	probably damaging	Het
Sugp2	T	A	8: 70,695,349 (GRCm39)	D107E	probably damaging	Het
Syne1	G	T	10: 5,310,848 (GRCm39)	F576L	probably damaging	Het
Syne3	A	G	12: 104,924,328 (GRCm39)	F357S	probably benign	Het
Tenm2	A	G	11: 35,932,371 (GRCm39)	L1741P	probably damaging	Het
Tgs1	A	T	4: 3,585,473 (GRCm39)	K117*	probably null	Het
Tram1	C	T	1: 13,649,673 (GRCm39)		probably null	Het
Trank1	T	A	9: 111,215,468 (GRCm39)	D1799E	probably benign	Het
Ttc14	A	T	3: 33,857,248 (GRCm39)	Y198F	probably benign	Het
Ube3b	A	G	5: 114,544,313 (GRCm39)	N570S	probably null	Het
Ube4b	A	G	4: 149,449,927 (GRCm39)	F412S	probably benign	Het
Vac14	T	C	8: 111,380,239 (GRCm39)		probably benign	Het
Vmn2r65	T	C	7: 84,592,729 (GRCm39)	T493A	probably benign	Het
Zfp408	T	C	2: 91,478,351 (GRCm39)		probably benign	Het
Zfp580	C	T	7: 5,056,267 (GRCm39)	T209I	possibly damaging	Het

Other mutations in Stfa2l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02324:Stfa2l1	APN	16	35,982,138 (GRCm39)	missense	probably damaging	0.99
R0894:Stfa2l1	UTSW	16	35,977,228 (GRCm39)	missense	probably benign	0.01
R1445:Stfa2l1	UTSW	16	35,982,154 (GRCm39)	missense	probably damaging	0.98
R1795:Stfa2l1	UTSW	16	35,977,228 (GRCm39)	missense	probably benign	0.01
R2937:Stfa2l1	UTSW	16	35,980,316 (GRCm39)	missense	probably damaging	1.00
R6347:Stfa2l1	UTSW	16	35,977,271 (GRCm39)	missense	probably damaging	0.98
R7836:Stfa2l1	UTSW	16	35,977,203 (GRCm39)	start gained	probably benign

Posted On

2013-06-21