Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Aif1'

210319

Institutional Source

Beutler Lab

Gene Symbol

Aif1

Ensembl Gene

ENSMUSG00000024397

Gene Name

allograft inflammatory factor 1

Synonyms

G1, D17H6S50E, Iba1

MMRRC Submission

039929-MU

Accession Numbers

Essential gene?

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

Stock #

R1911 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35389967-35394977 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35391127 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 44 (P44L)

Ref Sequence

ENSEMBL: ENSMUSP00000134107 (fasta)

Gene Model

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

AlphaFold

O70200

Predicted Effect

probably benign
Transcript: ENSMUST00000025257
AA Change: P44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000025257
Gene: ENSMUSG00000024397
AA Change: P44L

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 benign
Transcript: ENSMUST00000172693
AA Change: P44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134214
Gene: ENSMUSG00000024397
AA Change: P44L

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
AA Change: P44L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000134107
Gene: ENSMUSG00000024397
AA Change: P44L

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 benign
Transcript: ENSMUST00000173324
AA Change: P44L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000133709
Gene: ENSMUSG00000024397
AA Change: P44L

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

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,927,050 (GRCm39)		probably benign	Het
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Acaa2	A	G	18: 74,925,483 (GRCm39)	E82G	probably benign	Het
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Adam19	T	C	11: 46,012,281 (GRCm39)	V259A	probably damaging	Het
Adss1	T	C	12: 112,599,443 (GRCm39)	V140A	probably benign	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Ank1	T	C	8: 23,589,666 (GRCm39)	V589A	probably damaging	Het
Ano2	G	A	6: 125,990,654 (GRCm39)	D803N	probably benign	Het
Arid1b	A	G	17: 5,393,241 (GRCm39)	E2257G	probably damaging	Het
Asb17	T	C	3: 153,550,138 (GRCm39)	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Aspm	T	A	1: 139,405,832 (GRCm39)	I1573K	probably benign	Het
Bcas1	C	A	2: 170,229,863 (GRCm39)	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,079,113 (GRCm39)	G9*	probably null	Het
Btaf1	A	G	19: 36,964,030 (GRCm39)	Q867R	probably benign	Het
Calhm3	C	T	19: 47,143,908 (GRCm39)	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,530,539 (GRCm39)	I401F	possibly damaging	Het
Cdcp3	T	C	7: 130,839,818 (GRCm39)	V580A	probably damaging	Het
Cecr2	T	A	6: 120,739,526 (GRCm39)		probably benign	Het
Cep104	G	A	4: 154,091,255 (GRCm39)	R925Q	possibly damaging	Het
Cep164	T	A	9: 45,682,104 (GRCm39)	M1900L	probably benign	Het
Crybg1	A	G	10: 43,873,673 (GRCm39)	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,008,399 (GRCm39)	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,796,368 (GRCm39)	L798P	probably damaging	Het
Dmxl1	T	C	18: 50,011,230 (GRCm39)	I1129T	probably benign	Het
Dnah2	T	C	11: 69,406,578 (GRCm39)	N555D	possibly damaging	Het
Dock1	T	A	7: 134,601,029 (GRCm39)	M988K	probably damaging	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Endov	T	C	11: 119,393,177 (GRCm39)	V109A	possibly damaging	Het
Epha8	T	C	4: 136,663,625 (GRCm39)	Y477C	probably damaging	Het
Erlin1	A	G	19: 44,037,561 (GRCm39)	M188T	probably damaging	Het
Fhip1a	T	A	3: 85,568,525 (GRCm39)	D998V	probably benign	Het
Fhod3	A	T	18: 25,245,643 (GRCm39)	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,742,646 (GRCm39)	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Grk1	C	A	8: 13,457,923 (GRCm39)	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,699,621 (GRCm39)	A269V	probably benign	Het
Krt33a	T	A	11: 99,903,175 (GRCm39)	Q289L	probably benign	Het
Krt76	T	A	15: 101,796,600 (GRCm39)	K403*	probably null	Het
Lcn4	T	C	2: 26,560,607 (GRCm39)		probably benign	Het
Mab21l1	T	C	3: 55,691,048 (GRCm39)	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 25,123,025 (GRCm39)	D610E	probably benign	Het
Mastl	G	T	2: 23,022,692 (GRCm39)	S677*	probably null	Het
Mfap3	T	C	11: 57,420,562 (GRCm39)	F181S	probably damaging	Het
Mlkl	T	C	8: 112,038,732 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,876 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,350,041 (GRCm39)	F595L	probably benign	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nit2	G	A	16: 56,982,046 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,921,425 (GRCm39)	V298M	probably damaging	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Or4c111	A	G	2: 88,843,565 (GRCm39)	L281P	probably damaging	Het
Or52b1	T	A	7: 104,978,590 (GRCm39)	I270F	probably benign	Het
Or6c210	A	T	10: 129,495,981 (GRCm39)	D102V	probably benign	Het
Or7g12	T	C	9: 18,900,196 (GRCm39)	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,243,662 (GRCm39)	R864L	probably benign	Het
Pcnt	G	A	10: 76,204,650 (GRCm39)	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,634,174 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,326,548 (GRCm39)	I341V	probably damaging	Het
Pramel32	T	C	4: 88,548,309 (GRCm39)	Q32R	possibly damaging	Het
Prune2	T	A	19: 17,091,038 (GRCm39)	F281I	probably benign	Het
Psg19	T	G	7: 18,528,193 (GRCm39)	Q183H	probably damaging	Het
Psme4	T	G	11: 30,765,658 (GRCm39)	S587A	probably benign	Het
Ptpro	T	C	6: 137,377,617 (GRCm39)		probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rasgrp4	T	C	7: 28,838,302 (GRCm39)	V92A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rexo5	C	T	7: 119,398,867 (GRCm39)	A68V	probably damaging	Het
Robo2	A	T	16: 73,755,213 (GRCm39)	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,187,237 (GRCm39)	V278I	probably benign	Het
Sidt1	A	G	16: 44,102,234 (GRCm39)	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,599,246 (GRCm39)	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,530,367 (GRCm39)	R690H	probably damaging	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,616 (GRCm39)	Y129*	probably null	Het
Srcap	T	C	7: 127,133,994 (GRCm39)	I905T	probably damaging	Het
St6gal1	T	G	16: 23,140,383 (GRCm39)	S185A	probably damaging	Het
Sult6b1	G	A	17: 79,196,393 (GRCm39)	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,937,979 (GRCm39)	N1023T	probably benign	Het
Tecta	C	T	9: 42,249,232 (GRCm39)	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tex14	T	A	11: 87,385,861 (GRCm39)	D240E	probably damaging	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,910,104 (GRCm39)	V165A	probably benign	Het
Tmem126b	T	A	7: 90,118,367 (GRCm39)	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,592,374 (GRCm39)	M46I	probably benign	Het
Trmt2a	A	G	16: 18,069,070 (GRCm39)	K304R	probably benign	Het
Ttc28	G	T	5: 111,428,616 (GRCm39)	R1845L	possibly damaging	Het
Umodl1	A	T	17: 31,211,128 (GRCm39)	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,461,001 (GRCm39)	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,655,671 (GRCm39)	S627P	probably damaging	Het
Vrk1	T	C	12: 106,024,236 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,783,137 (GRCm39)	M1079T	possibly damaging	Het
Znrf1	T	C	8: 112,348,233 (GRCm39)	*41Q	probably null	Het
Znrf1	T	C	8: 112,348,244 (GRCm39)	F183L	possibly 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
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'- AGTTGGTGGCTGAGCAATGC -3'
(R):5'- AGCTTTTGGACTGCTGAAGG -3'

Sequencing Primer
(F):5'- CTGAGCAATGCCAGGGTAG -3'
(R):5'- GACTGCTGAAGGCCCAG -3'

Posted On

2014-06-30