Mutagenetix > Incidental Mutation

Incidental Mutation 'R0396:Aif1'

32087

Institutional Source

Beutler Lab

Gene Symbol

Aif1

Ensembl Gene

ENSMUSG00000024397

Gene Name

allograft inflammatory factor 1

Synonyms

G1, D17H6S50E, Iba1

MMRRC Submission

038602-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.209) question?

Stock #

R0396 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35389967-35394977 bp(-) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 35390085 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 148 (*148W)

Ref Sequence

ENSEMBL: ENSMUSP00000133709 (fasta)

Gene Model

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

AlphaFold

O70200

Predicted Effect

probably null
Transcript: ENSMUST00000025257
AA Change: *148W

SMART Domains

Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: *148W

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 null
Transcript: ENSMUST00000172693
AA Change: *148W

SMART Domains

Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: *148W

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

noncoding transcript
Transcript: ENSMUST00000173281

Predicted Effect

probably null
Transcript: ENSMUST00000173324
AA Change: *148W

SMART Domains

Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: *148W

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

Meta Mutation Damage Score

0.8589

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.5%
20x: 89.8%

Validation Efficiency

92% (96/104)

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: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	G	A	8: 106,436,412 (GRCm39)	V194I	probably benign	Het
Acsm1	A	T	7: 119,235,678 (GRCm39)	I133F	probably damaging	Het
Adamts9	T	A	6: 92,774,986 (GRCm39)	T1676S	probably benign	Het
Adcy4	T	C	14: 56,009,745 (GRCm39)	D769G	probably benign	Het
Akna	C	T	4: 63,310,363 (GRCm39)		probably benign	Het
Arhgap32	G	A	9: 32,156,551 (GRCm39)		probably null	Het
Atpaf1	G	A	4: 115,642,449 (GRCm39)	E92K	possibly damaging	Het
Bltp2	T	C	11: 78,159,203 (GRCm39)	V467A	possibly damaging	Het
C1s1	T	C	6: 124,510,313 (GRCm39)	E378G	probably benign	Het
Caprin1	T	A	2: 103,599,914 (GRCm39)	Q108L	probably damaging	Het
Car13	A	T	3: 14,721,299 (GRCm39)	H154L	probably benign	Het
Cdon	C	A	9: 35,381,426 (GRCm39)	N605K	probably damaging	Het
Ceacam10	G	A	7: 24,480,439 (GRCm39)	G70E	probably damaging	Het
Cfap221	G	A	1: 119,881,930 (GRCm39)	T286M	probably benign	Het
Cfap61	T	C	2: 145,791,864 (GRCm39)	F107S	possibly damaging	Het
Coil	C	A	11: 88,872,449 (GRCm39)	T270N	probably benign	Het
Crocc2	T	G	1: 93,151,936 (GRCm39)		probably benign	Het
Crot	T	C	5: 9,019,959 (GRCm39)	E461G	probably damaging	Het
D130052B06Rik	G	T	11: 33,573,391 (GRCm39)	R41L	unknown	Het
D630045J12Rik	T	C	6: 38,173,671 (GRCm39)	S166G	possibly damaging	Het
Dennd4a	T	G	9: 64,769,673 (GRCm39)	V460G	probably damaging	Het
Depdc7	A	T	2: 104,557,668 (GRCm39)		probably benign	Het
Dgkb	G	A	12: 38,240,134 (GRCm39)		probably null	Het
Dhx57	T	G	17: 80,582,226 (GRCm39)	S407R	probably benign	Het
Dnase2a	G	T	8: 85,636,392 (GRCm39)		probably benign	Het
Dqx1	T	G	6: 83,035,986 (GRCm39)	M106R	probably benign	Het
Eno1b	T	C	18: 48,180,806 (GRCm39)	I328T	probably benign	Het
Ephx2	T	G	14: 66,345,512 (GRCm39)	I151L	probably benign	Het
Gdf3	C	T	6: 122,584,094 (GRCm39)	G91D	probably damaging	Het
Gpc5	T	A	14: 115,665,620 (GRCm39)	N481K	possibly damaging	Het
Gsdme	T	A	6: 50,198,087 (GRCm39)	H291L	probably benign	Het
H2-T13	A	G	17: 36,394,614 (GRCm39)	I103T	possibly damaging	Het
Hif3a	G	A	7: 16,785,946 (GRCm39)		probably benign	Het
Hmox2	A	T	16: 4,583,627 (GRCm39)	I232L	probably benign	Het
Itgb2	A	G	10: 77,397,023 (GRCm39)	Y686C	probably damaging	Het
Jmjd1c	A	G	10: 67,055,302 (GRCm39)	T528A	possibly damaging	Het
Kdr	T	C	5: 76,121,388 (GRCm39)	I541V	possibly damaging	Het
Khdrbs2	C	A	1: 32,559,054 (GRCm39)	V343L	probably damaging	Het
Kif16b	C	T	2: 142,695,579 (GRCm39)	R175H	probably damaging	Het
Klri2	T	G	6: 129,717,251 (GRCm39)	E44A	possibly damaging	Het
Kmt2b	G	T	7: 30,276,180 (GRCm39)	T1773K	probably damaging	Het
Lair1	A	G	7: 4,013,785 (GRCm39)	L154P	probably damaging	Het
Larp1b	G	A	3: 40,924,996 (GRCm39)	V158M	probably damaging	Het
Lgi3	T	A	14: 70,772,280 (GRCm39)	I275N	probably damaging	Het
Lrba	A	G	3: 86,202,486 (GRCm39)	N246D	probably damaging	Het
Lrrc45	T	A	11: 120,605,733 (GRCm39)		probably benign	Het
Mdh2	G	T	5: 135,818,533 (GRCm39)	V263L	probably benign	Het
Myom1	T	A	17: 71,341,688 (GRCm39)	V149E	probably damaging	Het
Nanos1	A	T	19: 60,745,479 (GRCm39)	D259V	probably damaging	Het
Nedd4l	T	A	18: 65,294,725 (GRCm39)		probably benign	Het
Npas3	A	G	12: 53,878,528 (GRCm39)	Y150C	probably damaging	Het
Or10ab4	A	T	7: 107,655,170 (GRCm39)	H327L	probably benign	Het
Or10ag59	T	A	2: 87,405,911 (GRCm39)	V161D	possibly damaging	Het
Or2h1b	C	T	17: 37,462,446 (GRCm39)	C139Y	probably damaging	Het
Or2y1f	A	T	11: 49,184,165 (GRCm39)	I6F	probably benign	Het
Or52e15	G	A	7: 104,645,913 (GRCm39)	A66V	probably damaging	Het
Or8k28	T	C	2: 86,286,363 (GRCm39)	N84S	possibly damaging	Het
Pde4c	A	G	8: 71,202,725 (GRCm39)	N637S	probably benign	Het
Pds5b	T	A	5: 150,702,740 (GRCm39)	V824D	possibly damaging	Het
Pole2	A	T	12: 69,269,160 (GRCm39)		probably benign	Het
Ppig	C	T	2: 69,566,320 (GRCm39)		probably benign	Het
Prep	A	G	10: 44,968,772 (GRCm39)	Y90C	probably damaging	Het
Proca1	A	T	11: 78,085,731 (GRCm39)	R11S	probably damaging	Het
Prph	T	A	15: 98,954,872 (GRCm39)	W313R	probably benign	Het
Prune2	C	T	19: 17,100,444 (GRCm39)	P1983S	probably benign	Het
Ptbp2	G	A	3: 119,517,847 (GRCm39)		probably benign	Het
Rsph6a	C	T	7: 18,808,031 (GRCm39)	P398L	probably damaging	Het
Sdk2	T	C	11: 113,720,793 (GRCm39)	I1379V	probably benign	Het
Sf3b1	C	T	1: 55,058,430 (GRCm39)	G53E	probably damaging	Het
Slc9a3	T	C	13: 74,305,903 (GRCm39)		probably null	Het
Smarcal1	A	T	1: 72,665,632 (GRCm39)	H710L	probably benign	Het
Soat2	GAGAAG	GAG	15: 102,059,142 (GRCm39)		probably benign	Het
Sptan1	T	C	2: 29,881,045 (GRCm39)	V438A	probably damaging	Het
Sstr4	T	A	2: 148,238,181 (GRCm39)	V264D	probably damaging	Het
Susd2	A	G	10: 75,475,745 (GRCm39)	L418P	probably damaging	Het
Synj1	A	G	16: 90,735,528 (GRCm39)	V1475A	probably benign	Het
Szt2	G	A	4: 118,233,544 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,695,499 (GRCm39)		probably null	Het
Tesk1	A	G	4: 43,446,000 (GRCm39)	E311G	probably damaging	Het
Tmed5	A	T	5: 108,273,882 (GRCm39)	V119E	probably damaging	Het
Tmem260	T	C	14: 48,724,324 (GRCm39)	S201P	possibly damaging	Het
Tnxb	A	G	17: 34,890,707 (GRCm39)	Y350C	probably damaging	Het
Tpte	T	C	8: 22,825,624 (GRCm39)		probably benign	Het
Trim37	A	T	11: 87,037,794 (GRCm39)	D161V	probably damaging	Het
Trrap	C	A	5: 144,751,366 (GRCm39)	Q1640K	probably damaging	Het
Tspoap1	T	C	11: 87,667,172 (GRCm39)		probably benign	Het
Ttk	T	A	9: 83,729,313 (GRCm39)		probably benign	Het
Vmn1r172	A	G	7: 23,359,957 (GRCm39)	S281G	probably benign	Het
Vmn1r177	A	G	7: 23,565,022 (GRCm39)	S285P	probably damaging	Het
Vmn1r231	C	T	17: 21,110,661 (GRCm39)	V85I	probably damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r118	T	C	17: 55,915,643 (GRCm39)	I436V	probably benign	Het
Vmn2r12	T	C	5: 109,240,765 (GRCm39)	K116R	probably benign	Het
Vmn2r28	T	A	7: 5,491,513 (GRCm39)	I245L	probably benign	Het
Wdr26	A	T	1: 181,008,216 (GRCm39)		probably benign	Het
Xrcc3	A	T	12: 111,776,391 (GRCm39)	H67Q	probably benign	Het
Zbbx	A	T	3: 74,985,802 (GRCm39)	S417T	possibly damaging	Het
Zc3h13	A	G	14: 75,560,922 (GRCm39)	D504G	unknown	Het
Zfp1005	G	A	2: 150,109,973 (GRCm39)	G221D	probably damaging	Het
Zfp217	C	T	2: 169,957,382 (GRCm39)	A539T	probably benign	Het
Zyg11b	A	T	4: 108,112,505 (GRCm39)	F388I	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
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
R6786:Aif1	UTSW	17	35,390,472 (GRCm39)	missense	probably damaging	1.00
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'- TATGAAGCTCCTGTGAGCCTGGAC -3'
(R):5'- CCCACTTCTGCACTCTTAGAGCAAC -3'

Sequencing Primer
(F):5'- tctatccctccctccaagtg -3'
(R):5'- TAGAGCAACCTGAGATTTACTACTCC -3'

Posted On

2013-04-24