Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01717:Aif1'

104980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Aif1

Ensembl Gene

ENSMUSG00000024397

Gene Name

allograft inflammatory factor 1

Synonyms

D17H6S50E, Iba1, G1

Accession Numbers

Genbank: NM_019467; MGI: 1343098

Is this an essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

IGL01717

Quality Score

Status

Chromosome

Chromosomal Location

35170991-35176068 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35171555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 73 (M73K)

Ref Sequence

ENSEMBL: ENSMUSP00000133709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025257] [ENSMUST00000172693] [ENSMUST00000173106] [ENSMUST00000173324]

AlphaFold

O70200

Predicted Effect

probably damaging
Transcript: ENSMUST00000025257
AA Change: M73K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: M73K

Domain	Start	End	E-Value	Type
PDB:1WY9\|A	1	147	1e-104	PDB
SCOP:d1mr8a_	48	130	7e-10	SMART
Blast:EFh	49	77	1e-10	BLAST
Blast:EFh	85	113	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172679

Predicted Effect

probably damaging
Transcript: ENSMUST00000172693
AA Change: M73K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: M73K

Domain	Start	End	E-Value	Type
PDB:1WY9\|A	1	147	1e-104	PDB
SCOP:d1mr8a_	48	130	7e-10	SMART
Blast:EFh	49	77	1e-10	BLAST
Blast:EFh	85	113	1e-7	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000173106
AA Change: M118K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397
AA Change: M118K

Domain	Start	End	E-Value	Type
PDB:1WY9\|A	1	128	4e-47	PDB
Blast:EFh	98	122	4e-9	BLAST
SCOP:d1mr8a_	98	128	7e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173281

Predicted Effect

probably damaging
Transcript: ENSMUST00000173324
AA Change: M73K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: M73K

Domain	Start	End	E-Value	Type
PDB:1WY9\|A	1	147	1e-104	PDB
SCOP:d1mr8a_	48	130	7e-10	SMART
Blast:EFh	49	77	1e-10	BLAST
Blast:EFh	85	113	1e-7	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174044

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased spleen weight, decreased platalet cell number and decreased susceptibility to induced arthritis. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Gene trapped(2)

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 37,034,736	S4112G	probably benign	Het
Alk	T	C	17: 72,603,382	I110V	probably benign	Het
Aoah	T	C	13: 20,999,977	S404P	probably damaging	Het
Bhlhe41	A	G	6: 145,863,037	S350P	possibly damaging	Het
Capn12	A	G	7: 28,889,105	D540G	probably benign	Het
Chd6	A	G	2: 160,965,259	Y2012H	possibly damaging	Het
Col1a1	A	G	11: 94,950,777	T1284A	unknown	Het
Col24a1	T	C	3: 145,524,263		probably benign	Het
Col4a5	T	A	X: 141,639,238	V1070D	unknown	Het
Col6a5	T	C	9: 105,940,273	T280A	unknown	Het
Dicer1	A	T	12: 104,702,787	L1212*	probably null	Het
Gigyf1	T	A	5: 137,525,691	V1041E	probably damaging	Het
Gm4978	C	T	9: 69,450,873		probably benign	Het
Gnai1	A	G	5: 18,291,461		probably null	Het
Golgb1	C	T	16: 36,915,502	R1704*	probably null	Het
Incenp	A	G	19: 9,893,265		probably benign	Het
Lrrc39	A	T	3: 116,579,497		probably benign	Het
Man2a2	T	C	7: 80,367,365	K319E	probably damaging	Het
Neb	T	C	2: 52,189,867	D83G	probably damaging	Het
Osbpl6	T	C	2: 76,588,594	I732T	probably damaging	Het
Pacs1	T	A	19: 5,167,972	K130N	probably damaging	Het
Pappa2	A	G	1: 158,857,132		probably null	Het
Pole2	T	C	12: 69,213,849	M186V	probably damaging	Het
Rwdd4a	T	C	8: 47,544,105		probably benign	Het
Sel1l3	A	G	5: 53,200,168	Y161H	probably damaging	Het
Sf3a2	C	T	10: 80,804,692	Q446*	probably null	Het
Slc26a3	T	C	12: 31,463,477	I466T	probably benign	Het
Slc29a4	A	T	5: 142,718,746	I348F	probably damaging	Het
Tbl1xr1	A	G	3: 22,193,171		probably benign	Het
Tlr5	A	T	1: 182,975,398	I756F	probably damaging	Het
Ttn	T	A	2: 76,730,402	L29218F	probably damaging	Het
Ttn	A	T	2: 76,730,404	L29218I	probably damaging	Het

Other mutations in Aif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03279:Aif1	APN	17	35171547	nonsense	probably null
N/A:Aif1	UTSW	17	35172520	missense	possibly damaging	0.83
R0396:Aif1	UTSW	17	35171109	makesense	probably null
R1062:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1063:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1064:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1105:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1122:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1154:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1286:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1447:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1678:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1689:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1750:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1911:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R1974:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R2314:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R2338:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R2341:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R2915:Aif1	UTSW	17	35172151	missense	probably benign	0.01
R4953:Aif1	UTSW	17	35171098	splice site	probably null
R5260:Aif1	UTSW	17	35171941	critical splice acceptor site	probably null
R6786:Aif1	UTSW	17	35171496	missense	probably damaging	1.00
R7503:Aif1	UTSW	17	35171573	missense	probably damaging	1.00
R7534:Aif1	UTSW	17	35171414	missense	possibly damaging	0.77
R7891:Aif1	UTSW	17	35172624	start gained	probably benign
R8075:Aif1	UTSW	17	35171835	missense	unknown
Y4338:Aif1	UTSW	17	35172151	missense	probably benign	0.01

Posted On

2014-01-21