Mutagenetix > Incidental Mutation

Incidental Mutation 'R6786:Aif1'

532403

Institutional Source

Beutler Lab

Gene Symbol

Aif1

Ensembl Gene

ENSMUSG00000024397

Gene Name

allograft inflammatory factor 1

Synonyms

G1, D17H6S50E, Iba1

MMRRC Submission

044900-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R6786 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35389967-35394977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35390472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 93 (V93M)

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: V93M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: V93M

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: ENSMUST00000172693
AA Change: V93M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: V93M

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 benign
Transcript: ENSMUST00000173106

SMART Domains

Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397

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

probably damaging
Transcript: ENSMUST00000173324
AA Change: V93M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: V93M

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

96% (66/69)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	C	A	4: 56,744,116 (GRCm39)	Y214*	probably null	Het
Adnp2	A	G	18: 80,172,960 (GRCm39)	V483A	probably benign	Het
Alpk2	A	G	18: 65,439,705 (GRCm39)	S563P	probably benign	Het
Ank2	A	T	3: 126,752,581 (GRCm39)	N378K	probably damaging	Het
Ano4	C	T	10: 88,828,732 (GRCm39)		probably null	Het
Asxl3	G	A	18: 22,658,497 (GRCm39)	C2169Y	probably damaging	Het
Atp2b1	T	C	10: 98,852,821 (GRCm39)	C101R	probably damaging	Het
Bcs1l	C	T	1: 74,629,844 (GRCm39)	R224C	probably damaging	Het
Car2	T	C	3: 14,951,710 (GRCm39)		probably benign	Het
Cbln1	T	C	8: 88,198,657 (GRCm39)	N71S	probably benign	Het
Cdh8	T	A	8: 99,950,579 (GRCm39)	T224S	probably benign	Het
Cdin1	A	G	2: 115,462,462 (GRCm39)	I65V	probably benign	Het
Cep131	G	A	11: 119,956,218 (GRCm39)	R1014W	probably damaging	Het
Cfap61	T	C	2: 145,887,363 (GRCm39)	S603P	possibly damaging	Het
Chd8	G	T	14: 52,464,125 (GRCm39)	L659I	probably benign	Het
Ckap5	G	A	2: 91,387,920 (GRCm39)	G255D	probably benign	Het
Clec18a	C	A	8: 111,807,572 (GRCm39)	W126L	probably benign	Het
Cux1	T	A	5: 136,596,085 (GRCm39)	N4Y	probably damaging	Het
Dgcr8	A	T	16: 18,101,693 (GRCm39)	Y196*	probably null	Het
Dnah14	A	T	1: 181,468,970 (GRCm39)	I1267F	probably benign	Het
Dock7	T	C	4: 98,949,529 (GRCm39)	N438D	probably benign	Het
Dock8	A	T	19: 25,160,386 (GRCm39)	H1763L	possibly damaging	Het
Elp1	T	C	4: 56,771,555 (GRCm39)	D914G	possibly damaging	Het
Fpr-rs6	A	T	17: 20,403,100 (GRCm39)	M87K	possibly damaging	Het
Gabrg1	A	G	5: 70,911,610 (GRCm39)	S339P	probably benign	Het
Gm10801	AAGT	AAGTAGT	2: 98,494,148 (GRCm39)		probably null	Het
Gm12695	A	G	4: 96,651,058 (GRCm39)	S132P	probably damaging	Het
Gm3443	T	A	19: 21,533,128 (GRCm39)	C31S	probably damaging	Het
Gzmf	A	T	14: 56,444,452 (GRCm39)	F40L	probably benign	Het
Herc1	TCCC	TCC	9: 66,408,470 (GRCm39)		probably null	Het
Lrguk	A	G	6: 34,072,522 (GRCm39)	E604G	probably benign	Het
Marveld3	C	A	8: 110,674,732 (GRCm39)	K361N	probably benign	Het
Mgat4b	A	T	11: 50,121,525 (GRCm39)	Y47F	probably damaging	Het
Mmel1	G	T	4: 154,976,885 (GRCm39)	E520*	probably null	Het
Msantd5f6	A	T	4: 73,321,843 (GRCm39)	M64K	possibly damaging	Het
Muc21	T	C	17: 35,934,057 (GRCm39)		probably benign	Het
Myod1	A	G	7: 46,027,741 (GRCm39)	T294A	probably benign	Het
Nfix	A	T	8: 85,454,276 (GRCm39)	S219T	probably damaging	Het
Nr4a2	A	G	2: 57,001,920 (GRCm39)	F115L	probably benign	Het
Numa1	A	C	7: 101,641,845 (GRCm39)	M98L	probably benign	Het
Or5b105	T	C	19: 13,080,567 (GRCm39)	I28V	probably benign	Het
P3h1	C	T	4: 119,095,151 (GRCm39)	L303F	possibly damaging	Het
Pias4	G	A	10: 80,993,080 (GRCm39)	T5I	probably damaging	Het
Pik3ip1	A	G	11: 3,282,124 (GRCm39)	N68S	probably benign	Het
Pkdrej	T	C	15: 85,702,850 (GRCm39)	T1029A	probably benign	Het
Recql	A	T	6: 142,310,278 (GRCm39)	D517E	probably benign	Het
Sall2	G	T	14: 52,552,078 (GRCm39)	H372Q	probably damaging	Het
Scn8a	A	C	15: 100,930,096 (GRCm39)	I1436L	probably benign	Het
Slc4a5	T	C	6: 83,273,729 (GRCm39)		probably null	Het
Stox2	A	C	8: 47,639,500 (GRCm39)	F898C	probably damaging	Het
Sumo2	A	T	11: 115,414,601 (GRCm39)		probably null	Het
Sycp2	C	T	2: 178,025,345 (GRCm39)	E366K	possibly damaging	Het
Tanc1	A	G	2: 59,622,150 (GRCm39)	K423R	probably benign	Het
Tbx21	T	A	11: 97,005,872 (GRCm39)	Q31L	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tfdp1	C	T	8: 13,420,485 (GRCm39)	R105W	probably damaging	Het
Trav18	G	A	14: 54,069,122 (GRCm39)	V55I	probably benign	Het
Trgc1	A	T	13: 19,400,646 (GRCm39)	D125V	unknown	Het
Trim55	A	G	3: 19,726,938 (GRCm39)	D335G	probably benign	Het
Trim71	T	A	9: 114,341,772 (GRCm39)	T837S	probably benign	Het
Vmn1r56	T	C	7: 5,198,961 (GRCm39)	T219A	probably benign	Het
Vmn2r17	A	T	5: 109,575,695 (GRCm39)	T189S	probably benign	Het
Xaf1	A	G	11: 72,197,461 (GRCm39)	T146A	probably benign	Het
Zdbf2	T	C	1: 63,343,679 (GRCm39)	V686A	possibly damaging	Het
Zfp65	T	C	13: 67,856,130 (GRCm39)	H383R	probably damaging	Het
Zfp932	A	G	5: 110,157,606 (GRCm39)	T435A	probably damaging	Het
Zfp947	C	T	17: 22,364,750 (GRCm39)	G308D	probably benign	Het
Zswim3	T	A	2: 164,662,771 (GRCm39)	V417E	probably damaging	Het

Other mutations in Aif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01717:Aif1	APN	17	35,390,531 (GRCm39)	missense	probably damaging	1.00
IGL03279:Aif1	APN	17	35,390,523 (GRCm39)	nonsense	probably null
N/A:Aif1	UTSW	17	35,391,496 (GRCm39)	missense	possibly damaging	0.83
R0396:Aif1	UTSW	17	35,390,085 (GRCm39)	makesense	probably null
R1062:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1063:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1064:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1105:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1122:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1154:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1286:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1447:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1678:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1689:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1750:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1911:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R1974:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R2314:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R2338:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R2341:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R2915:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01
R4953:Aif1	UTSW	17	35,390,074 (GRCm39)	splice site	probably null
R5260:Aif1	UTSW	17	35,390,917 (GRCm39)	critical splice acceptor site	probably null
R7503:Aif1	UTSW	17	35,390,549 (GRCm39)	missense	probably damaging	1.00
R7534:Aif1	UTSW	17	35,390,390 (GRCm39)	missense	possibly damaging	0.77
R7891:Aif1	UTSW	17	35,391,600 (GRCm39)	start gained	probably benign
R8075:Aif1	UTSW	17	35,390,811 (GRCm39)	missense	unknown
Y4338:Aif1	UTSW	17	35,391,127 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCTCTGAGGAGAAAGGGTG -3'
(R):5'- CTAGGGAAATAGAGGCCTTGTCC -3'

Sequencing Primer
(F):5'- AGGGTGGCTGATGGGAC -3'
(R):5'- AATTATGTCCCCTGTAGACAGC -3'

Posted On

2018-08-29