Mutagenetix > Incidental Mutation

Incidental Mutation 'R1533:Ifi207'

166710

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

AI607873, Pyhin-A

MMRRC Submission

039572-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R1533 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173550993-173569313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173555306 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 792 (V792A)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042610] [ENSMUST00000127730]

AlphaFold

E9Q3L4

Predicted Effect

probably benign
Transcript: ENSMUST00000042610
AA Change: V799A

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: V799A

Domain	Start	End	E-Value	Type
PYRIN	6	84	3.2e-15	SMART
low complexity region	121	133	N/A	INTRINSIC
low complexity region	136	162	N/A	INTRINSIC
low complexity region	207	215	N/A	INTRINSIC
internal_repeat_1	286	472	4.17e-7	PROSPERO
low complexity region	476	496	N/A	INTRINSIC
internal_repeat_1	565	782	4.17e-7	PROSPERO
Pfam:HIN	788	954	4.9e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127730
AA Change: V792A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: V792A

Domain	Start	End	E-Value	Type
PYRIN	6	84	3.2e-15	SMART
low complexity region	121	133	N/A	INTRINSIC
low complexity region	136	155	N/A	INTRINSIC
low complexity region	200	208	N/A	INTRINSIC
internal_repeat_1	279	465	6.41e-7	PROSPERO
low complexity region	469	489	N/A	INTRINSIC
internal_repeat_1	558	775	6.41e-7	PROSPERO
Pfam:HIN	781	948	1.8e-78	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	G	C	3: 121,928,807 (GRCm39)	G1340A	probably benign	Het
Ambra1	T	A	2: 91,717,210 (GRCm39)	Y836N	probably damaging	Het
Arhgap26	A	T	18: 39,504,130 (GRCm39)	H144L	probably benign	Het
B3gnt5	A	G	16: 19,588,364 (GRCm39)	I194M	probably damaging	Het
Bltp1	G	T	3: 37,095,524 (GRCm39)	G4509V	probably damaging	Het
Bod1l	A	T	5: 41,979,498 (GRCm39)	C605*	probably null	Het
C2cd3	G	T	7: 100,055,284 (GRCm39)	K482N	possibly damaging	Het
Cd300lg	T	A	11: 101,934,047 (GRCm39)	L98Q	probably damaging	Het
Cerkl	T	A	2: 79,171,701 (GRCm39)	I386F	possibly damaging	Het
Cfh	T	A	1: 140,028,716 (GRCm39)	D466V	possibly damaging	Het
Crtc1	A	T	8: 70,850,949 (GRCm39)	I221N	probably damaging	Het
Ctnnbl1	T	C	2: 157,678,563 (GRCm39)	S389P	probably benign	Het
Ctsb	A	T	14: 63,376,544 (GRCm39)	D258V	probably damaging	Het
Cuzd1	G	T	7: 130,913,432 (GRCm39)	T395N	probably damaging	Het
Dnah6	T	C	6: 73,128,536 (GRCm39)	T1240A	probably benign	Het
Dok7	T	A	5: 35,221,671 (GRCm39)		probably null	Het
Dscaml1	T	C	9: 45,361,882 (GRCm39)	V214A	probably damaging	Het
Enpp6	A	T	8: 47,518,469 (GRCm39)	Y199F	probably benign	Het
Entpd5	C	A	12: 84,441,434 (GRCm39)	K111N	probably damaging	Het
Fam98a	A	G	17: 75,848,276 (GRCm39)	L146S	probably damaging	Het
Fhod3	A	T	18: 25,248,921 (GRCm39)	I1367F	probably damaging	Het
Fmnl2	A	G	2: 52,995,549 (GRCm39)	E424G	probably damaging	Het
Fpr3	T	A	17: 18,190,922 (GRCm39)	Y64*	probably null	Het
Fzd6	A	T	15: 38,895,019 (GRCm39)	H395L	probably damaging	Het
Gcsh	T	A	8: 117,715,921 (GRCm39)	H54L	probably damaging	Het
Gsdma	T	A	11: 98,567,210 (GRCm39)	S437T	unknown	Het
Gzmc	A	G	14: 56,471,376 (GRCm39)	V55A	probably damaging	Het
Hecw2	T	A	1: 53,965,704 (GRCm39)		probably null	Het
Itpr3	C	A	17: 27,314,534 (GRCm39)	N661K	possibly damaging	Het
Jmy	A	T	13: 93,577,819 (GRCm39)	I783N	probably benign	Het
Kcmf1	T	C	6: 72,820,003 (GRCm39)	E281G	possibly damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Lgr6	T	A	1: 135,032,670 (GRCm39)	Y70F	possibly damaging	Het
Lnx1	T	G	5: 74,780,678 (GRCm39)	D330A	probably damaging	Het
Lrp5	T	C	19: 3,664,234 (GRCm39)	N106S	probably benign	Het
Mamdc4	C	A	2: 25,459,759 (GRCm39)	R135L	possibly damaging	Het
Mcm3ap	A	G	10: 76,340,121 (GRCm39)	E1464G	probably damaging	Het
Megf8	T	C	7: 25,034,280 (GRCm39)	V666A	possibly damaging	Het
Mettl3	T	A	14: 52,534,385 (GRCm39)	E331D	probably benign	Het
Mphosph9	T	C	5: 124,405,204 (GRCm39)	K789R	probably damaging	Het
Mtf2	T	C	5: 108,239,995 (GRCm39)	L234P	probably damaging	Het
Ncdn	C	A	4: 126,642,491 (GRCm39)	E389*	probably null	Het
Ndor1	A	G	2: 25,139,279 (GRCm39)	S231P	probably damaging	Het
Nelfa	T	G	5: 34,056,215 (GRCm39)	K483Q	probably damaging	Het
Odad1	T	A	7: 45,592,282 (GRCm39)	M354K	probably benign	Het
Opn1sw	C	T	6: 29,378,923 (GRCm39)	R243Q	probably benign	Het
Or13a24	T	A	7: 140,155,034 (GRCm39)		probably null	Het
Or9e1	A	G	11: 58,732,792 (GRCm39)	N284S	probably damaging	Het
Pik3cd	T	C	4: 149,739,653 (GRCm39)	E584G	probably damaging	Het
Plcb3	A	T	19: 6,935,041 (GRCm39)	M870K	possibly damaging	Het
Poc5	A	G	13: 96,528,152 (GRCm39)	D16G	probably damaging	Het
Prpf40a	A	G	2: 53,035,852 (GRCm39)	I633T	probably damaging	Het
Ptpn13	G	T	5: 103,704,044 (GRCm39)	E1359*	probably null	Het
Ptprr	C	A	10: 116,024,113 (GRCm39)	Y4*	probably null	Het
Rbm45	T	C	2: 76,202,503 (GRCm39)		probably null	Het
Rfng	C	T	11: 120,672,687 (GRCm39)	W320*	probably null	Het
Rgs6	G	T	12: 83,138,547 (GRCm39)	V294L	probably benign	Het
Rufy4	T	C	1: 74,169,002 (GRCm39)		probably null	Het
Ruvbl2	T	A	7: 45,073,566 (GRCm39)	N313I	probably damaging	Het
Sema4g	G	A	19: 44,981,256 (GRCm39)	V70M	probably damaging	Het
Siglec1	T	C	2: 130,918,078 (GRCm39)	T969A	probably benign	Het
Slc22a27	T	A	19: 7,844,348 (GRCm39)	T431S	possibly damaging	Het
Slc25a16	G	A	10: 62,756,643 (GRCm39)	R38H	probably damaging	Het
Slc38a6	T	C	12: 73,391,626 (GRCm39)	V296A	probably benign	Het
Slc39a11	C	T	11: 113,196,748 (GRCm39)	V212I	probably damaging	Het
Sltm	A	G	9: 70,493,948 (GRCm39)	K782E	probably damaging	Het
Styxl1	T	A	5: 135,799,175 (GRCm39)	Y23F	probably damaging	Het
Svs4	T	C	2: 164,120,148 (GRCm39)	I20V	unknown	Het
Syt14	G	T	1: 192,613,084 (GRCm39)	T572K	possibly damaging	Het
Tbc1d5	A	T	17: 51,227,603 (GRCm39)	I214N	possibly damaging	Het
Tm9sf3	A	G	19: 41,227,223 (GRCm39)	S283P	probably benign	Het
Tmtc1	C	T	6: 148,147,208 (GRCm39)		probably null	Het
Ttll7	T	A	3: 146,602,422 (GRCm39)	N73K	probably damaging	Het
Ttn	T	A	2: 76,602,802 (GRCm39)	K18473N	probably damaging	Het
Ubr2	A	C	17: 47,278,173 (GRCm39)	Y721*	probably null	Het
Vmn1r14	T	A	6: 57,211,286 (GRCm39)	I288N	probably damaging	Het
Vmn2r103	T	C	17: 19,993,662 (GRCm39)	I13T	probably benign	Het
Vps13a	A	T	19: 16,678,494 (GRCm39)	Y1162*	probably null	Het
Vps51	C	A	19: 6,121,497 (GRCm39)	R175L	probably benign	Het
Zfp523	C	A	17: 28,423,473 (GRCm39)	S149R	probably benign	Het
Zik1	A	G	7: 10,224,053 (GRCm39)	I348T	possibly damaging	Het
Znfx1	T	A	2: 166,898,708 (GRCm39)	H72L	probably benign	Het

Other mutations in Ifi207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Ifi207	APN	1	173,552,610 (GRCm39)	missense	probably damaging	1.00
IGL01864:Ifi207	APN	1	173,564,007 (GRCm39)	missense	possibly damaging	0.72
IGL02293:Ifi207	APN	1	173,551,314 (GRCm39)	missense	probably damaging	1.00
IGL02402:Ifi207	APN	1	173,555,159 (GRCm39)	missense	probably damaging	1.00
IGL03160:Ifi207	APN	1	173,562,670 (GRCm39)	splice site	probably benign
PIT4458001:Ifi207	UTSW	1	173,562,738 (GRCm39)	missense	unknown
R0043:Ifi207	UTSW	1	173,556,678 (GRCm39)	missense	possibly damaging	0.48
R0212:Ifi207	UTSW	1	173,563,964 (GRCm39)	missense	possibly damaging	0.85
R0395:Ifi207	UTSW	1	173,557,431 (GRCm39)	missense	possibly damaging	0.85
R0506:Ifi207	UTSW	1	173,563,878 (GRCm39)	missense	possibly damaging	0.52
R0843:Ifi207	UTSW	1	173,555,143 (GRCm39)	missense	probably damaging	1.00
R1302:Ifi207	UTSW	1	173,562,861 (GRCm39)	missense	possibly damaging	0.96
R1373:Ifi207	UTSW	1	173,557,913 (GRCm39)	missense	unknown
R1462:Ifi207	UTSW	1	173,552,513 (GRCm39)	missense	probably damaging	1.00
R1462:Ifi207	UTSW	1	173,552,513 (GRCm39)	missense	probably damaging	1.00
R1471:Ifi207	UTSW	1	173,557,629 (GRCm39)	missense	unknown
R1502:Ifi207	UTSW	1	173,556,872 (GRCm39)	missense	possibly damaging	0.56
R1831:Ifi207	UTSW	1	173,559,992 (GRCm39)	missense	unknown
R1928:Ifi207	UTSW	1	173,557,211 (GRCm39)	missense	possibly damaging	0.68
R1982:Ifi207	UTSW	1	173,562,805 (GRCm39)	missense	probably benign	0.01
R2132:Ifi207	UTSW	1	173,557,337 (GRCm39)	missense	possibly damaging	0.84
R2248:Ifi207	UTSW	1	173,564,036 (GRCm39)	splice site	probably benign
R3703:Ifi207	UTSW	1	173,555,029 (GRCm39)	nonsense	probably null
R3741:Ifi207	UTSW	1	173,555,128 (GRCm39)	missense	probably damaging	1.00
R3846:Ifi207	UTSW	1	173,562,869 (GRCm39)	missense	probably benign	0.33
R4747:Ifi207	UTSW	1	173,556,633 (GRCm39)	missense	probably benign	0.00
R4772:Ifi207	UTSW	1	173,555,253 (GRCm39)	missense	probably damaging	1.00
R4776:Ifi207	UTSW	1	173,557,622 (GRCm39)	missense	unknown
R4855:Ifi207	UTSW	1	173,557,381 (GRCm39)	missense	probably damaging	0.96
R5170:Ifi207	UTSW	1	173,558,064 (GRCm39)	missense	unknown
R5244:Ifi207	UTSW	1	173,557,503 (GRCm39)	missense	probably benign	0.04
R5280:Ifi207	UTSW	1	173,557,870 (GRCm39)	missense	unknown
R5301:Ifi207	UTSW	1	173,556,977 (GRCm39)	missense	possibly damaging	0.83
R5334:Ifi207	UTSW	1	173,555,097 (GRCm39)	missense	probably benign	0.21
R5445:Ifi207	UTSW	1	173,555,363 (GRCm39)	missense	probably damaging	0.99
R5691:Ifi207	UTSW	1	173,559,992 (GRCm39)	missense	unknown
R5838:Ifi207	UTSW	1	173,559,953 (GRCm39)	missense	unknown
R6060:Ifi207	UTSW	1	173,558,093 (GRCm39)	missense	unknown
R6220:Ifi207	UTSW	1	173,557,112 (GRCm39)	missense	probably damaging	0.99
R6264:Ifi207	UTSW	1	173,555,111 (GRCm39)	missense	probably damaging	1.00
R6307:Ifi207	UTSW	1	173,552,619 (GRCm39)	missense	probably damaging	1.00
R6326:Ifi207	UTSW	1	173,557,532 (GRCm39)	missense	probably benign	0.01
R6394:Ifi207	UTSW	1	173,556,581 (GRCm39)	missense	probably benign	0.43
R6532:Ifi207	UTSW	1	173,557,211 (GRCm39)	missense	possibly damaging	0.68
R6660:Ifi207	UTSW	1	173,556,972 (GRCm39)	missense	probably benign	0.01
R6893:Ifi207	UTSW	1	173,555,208 (GRCm39)	missense	possibly damaging	0.95
R7190:Ifi207	UTSW	1	173,557,818 (GRCm39)	missense	unknown
R7192:Ifi207	UTSW	1	173,556,584 (GRCm39)	missense	not run
R7194:Ifi207	UTSW	1	173,557,490 (GRCm39)	missense	possibly damaging	0.84
R7327:Ifi207	UTSW	1	173,556,581 (GRCm39)	missense	probably benign	0.43
R7348:Ifi207	UTSW	1	173,556,762 (GRCm39)	small deletion	probably benign
R7404:Ifi207	UTSW	1	173,556,494 (GRCm39)	missense	possibly damaging	0.92
R7442:Ifi207	UTSW	1	173,554,997 (GRCm39)	missense	probably benign	0.03
R7784:Ifi207	UTSW	1	173,557,698 (GRCm39)	missense	unknown
R8041:Ifi207	UTSW	1	173,555,268 (GRCm39)	missense	possibly damaging	0.78
R8116:Ifi207	UTSW	1	173,557,746 (GRCm39)	missense	unknown
R8166:Ifi207	UTSW	1	173,557,504 (GRCm39)	missense	probably benign	0.10
R8166:Ifi207	UTSW	1	173,557,166 (GRCm39)	missense	possibly damaging	0.95
R8168:Ifi207	UTSW	1	173,557,504 (GRCm39)	missense	probably benign	0.10
R8383:Ifi207	UTSW	1	173,556,770 (GRCm39)	small deletion	probably benign
R8388:Ifi207	UTSW	1	173,557,016 (GRCm39)	frame shift	probably null
R8389:Ifi207	UTSW	1	173,557,016 (GRCm39)	frame shift	probably null
R8390:Ifi207	UTSW	1	173,557,016 (GRCm39)	frame shift	probably null
R8399:Ifi207	UTSW	1	173,557,844 (GRCm39)	missense	unknown
R8431:Ifi207	UTSW	1	173,558,070 (GRCm39)	missense	unknown
R8474:Ifi207	UTSW	1	173,556,605 (GRCm39)	missense	possibly damaging	0.63
R8505:Ifi207	UTSW	1	173,557,016 (GRCm39)	frame shift	probably null
R9009:Ifi207	UTSW	1	173,555,382 (GRCm39)	missense	probably damaging	0.97
R9061:Ifi207	UTSW	1	173,564,153 (GRCm39)	intron	probably benign
R9071:Ifi207	UTSW	1	173,557,764 (GRCm39)	missense	unknown
R9090:Ifi207	UTSW	1	173,556,762 (GRCm39)	small deletion	probably benign
R9323:Ifi207	UTSW	1	173,555,143 (GRCm39)	missense	probably damaging	1.00
R9407:Ifi207	UTSW	1	173,555,234 (GRCm39)	missense	probably damaging	1.00
R9493:Ifi207	UTSW	1	173,556,522 (GRCm39)	missense	probably benign	0.00
R9629:Ifi207	UTSW	1	173,556,561 (GRCm39)	small deletion	probably benign
RF009:Ifi207	UTSW	1	173,556,558 (GRCm39)	missense	probably benign	0.00
RF011:Ifi207	UTSW	1	173,556,687 (GRCm39)	missense	not run
RF032:Ifi207	UTSW	1	173,562,723 (GRCm39)	small deletion	probably benign
X0003:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0004:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0005:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0009:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0010:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0011:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0012:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0013:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0014:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0017:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0018:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0019:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0020:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0021:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0022:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0023:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0024:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0025:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0026:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0027:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0028:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0033:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0034:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0035:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0036:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0037:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0038:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0039:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0040:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0050:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0052:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0053:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0054:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0057:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0058:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0060:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0061:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0062:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0063:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0064:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0065:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0066:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
X0067:Ifi207	UTSW	1	173,556,548 (GRCm39)	missense	probably damaging	0.98
Z1177:Ifi207	UTSW	1	173,557,145 (GRCm39)	missense	probably damaging	1.00
Z1187:Ifi207	UTSW	1	173,558,093 (GRCm39)	missense	unknown
Z1192:Ifi207	UTSW	1	173,558,093 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGGTTAACGTTCACATCAGAGACAC -3'
(R):5'- CTTCCTGTGGCAGCCTACTTAACAC -3'

Sequencing Primer
(F):5'- GACACAGGAAGCTCTGTATATCTC -3'
(R):5'- GGATTCAATTCCCAGAAGTGTG -3'

Posted On

2014-04-13