Mutagenetix > Incidental Mutation

Incidental Mutation 'R6220:Ifi207'

503929

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

Pyhin-A, AI607873

MMRRC Submission

044352-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R6220 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173723427-173741747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173729546 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 542 (L542H)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000042610
AA Change: L549H

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: L549H

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 damaging
Transcript: ENSMUST00000127730
AA Change: L542H

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: L542H

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130011E15Rik	T	C	19: 45,846,115	E618G	possibly damaging	Het
Abhd16b	A	G	2: 181,493,785	D160G	probably damaging	Het
Acap1	A	G	11: 69,889,679	F15S	probably damaging	Het
Adam30	A	T	3: 98,161,309	S153C	probably damaging	Het
Afp	A	T	5: 90,504,410	D420V	possibly damaging	Het
Ak9	T	A	10: 41,370,099	H729Q	unknown	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bcr	A	G	10: 75,062,292	T423A	probably benign	Het
Cc2d1b	C	T	4: 108,633,225	R825W	probably damaging	Het
Ctns	T	C	11: 73,193,128	T23A	probably benign	Het
Ddx54	T	A	5: 120,620,689	N332K	probably benign	Het
Dysf	T	A	6: 84,149,745	I1344N	probably damaging	Het
Elovl3	A	T	19: 46,134,500	M172L	probably benign	Het
Fbxo6	A	T	4: 148,149,522	I39N	probably damaging	Het
Filip1l	T	A	16: 57,569,989	N313K	probably benign	Het
Foxp2	C	A	6: 15,437,948	T716K	probably damaging	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm10645	A	G	8: 83,165,757		probably benign	Het
Gm10735	T	C	13: 113,041,496		probably benign	Het
Gm4847	A	T	1: 166,634,972	D316E	probably damaging	Het
Gorasp2	T	C	2: 70,690,790	L388P	probably damaging	Het
Heatr5b	A	G	17: 78,773,677	L1382P	probably damaging	Het
Herc1	A	G	9: 66,433,788	Y1729C	probably damaging	Het
Ighv3-5	T	A	12: 114,262,718	N96I	probably damaging	Het
Isl1	T	C	13: 116,303,267	T182A	probably benign	Het
Jph4	T	C	14: 55,110,085	E421G	probably benign	Het
Lrrc45	T	C	11: 120,719,527	I488T	probably benign	Het
Mroh8	A	G	2: 157,233,163	I471T	probably benign	Het
Ms4a2	A	T	19: 11,617,563	D96E	probably damaging	Het
Mst1r	T	A	9: 107,907,348	N68K	probably benign	Het
Myo18b	A	G	5: 112,757,507	M2075T	possibly damaging	Het
Neb	T	C	2: 52,270,972	K2229R	probably null	Het
Nkx6-3	T	A	8: 23,153,971		probably null	Het
Nlrp1a	C	A	11: 71,142,338	S10I	probably benign	Het
Npas2	A	T	1: 39,336,061	T487S	probably benign	Het
Nrxn1	G	C	17: 91,088,476	T84R	probably benign	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pcdh18	A	G	3: 49,745,251	C921R	probably damaging	Het
Pcdha9	A	G	18: 36,998,478	Y200C	probably damaging	Het
Pknox1	A	T	17: 31,603,203	R315*	probably null	Het
Rasgrp1	C	T	2: 117,284,929	W726*	probably null	Het
Rassf8	G	A	6: 145,817,133	R402H	probably damaging	Het
Rev3l	T	A	10: 39,822,779	Y1091N	probably damaging	Het
Riok3	T	G	18: 12,149,551	V349G	probably damaging	Het
Rps18	A	T	17: 33,955,136	V15E	probably damaging	Het
Rptor	A	T	11: 119,897,442	Y1323F	possibly damaging	Het
Rspry1	T	C	8: 94,658,750	C437R	probably damaging	Het
Sema5a	T	A	15: 32,686,729	Y996N	probably damaging	Het
Smarcad1	A	G	6: 65,114,329	I1011M	probably benign	Het
Supv3l1	A	T	10: 62,439,021	M295K	possibly damaging	Het
Sv2c	T	C	13: 95,976,626	D605G	probably damaging	Het
Teddm1b	G	A	1: 153,875,201	W252*	probably null	Het
Tes	T	A	6: 17,086,196	C29*	probably null	Het
Thsd4	A	G	9: 59,982,747	W856R	probably damaging	Het
Treml4	A	T	17: 48,264,848	D93V	possibly damaging	Het
Trim66	T	C	7: 109,483,093	T218A	probably damaging	Het
Tssk5	T	C	15: 76,373,773	D128G	probably damaging	Het
Ubr3	T	A	2: 70,020,475	W1746R	probably damaging	Het
Vmn2r11	T	C	5: 109,053,568	I357V	probably benign	Het
Vmn2r87	A	T	10: 130,479,938	D86E	probably benign	Het
Zfp184	T	G	13: 21,960,207	H694Q	probably damaging	Het
Zranb3	A	C	1: 127,999,404	F341L	probably benign	Het

Other mutations in Ifi207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Ifi207	APN	1	173725044	missense	probably damaging	1.00
IGL01864:Ifi207	APN	1	173736441	missense	possibly damaging	0.72
IGL02293:Ifi207	APN	1	173723748	missense	probably damaging	1.00
IGL02402:Ifi207	APN	1	173727593	missense	probably damaging	1.00
IGL03160:Ifi207	APN	1	173735104	splice site	probably benign
PIT4458001:Ifi207	UTSW	1	173735172	missense	unknown
R0043:Ifi207	UTSW	1	173729112	missense	possibly damaging	0.48
R0212:Ifi207	UTSW	1	173736398	missense	possibly damaging	0.85
R0395:Ifi207	UTSW	1	173729865	missense	possibly damaging	0.85
R0506:Ifi207	UTSW	1	173736312	missense	possibly damaging	0.52
R0843:Ifi207	UTSW	1	173727577	missense	probably damaging	1.00
R1302:Ifi207	UTSW	1	173735295	missense	possibly damaging	0.96
R1373:Ifi207	UTSW	1	173730347	missense	unknown
R1462:Ifi207	UTSW	1	173724947	missense	probably damaging	1.00
R1462:Ifi207	UTSW	1	173724947	missense	probably damaging	1.00
R1471:Ifi207	UTSW	1	173730063	missense	unknown
R1502:Ifi207	UTSW	1	173729306	missense	possibly damaging	0.56
R1533:Ifi207	UTSW	1	173727740	missense	probably benign	0.30
R1831:Ifi207	UTSW	1	173732426	missense	unknown
R1928:Ifi207	UTSW	1	173729645	missense	possibly damaging	0.68
R1982:Ifi207	UTSW	1	173735239	missense	probably benign	0.01
R2132:Ifi207	UTSW	1	173729771	missense	possibly damaging	0.84
R2248:Ifi207	UTSW	1	173736470	splice site	probably benign
R3703:Ifi207	UTSW	1	173727463	nonsense	probably null
R3741:Ifi207	UTSW	1	173727562	missense	probably damaging	1.00
R3846:Ifi207	UTSW	1	173735303	missense	probably benign	0.33
R4747:Ifi207	UTSW	1	173729067	missense	probably benign	0.00
R4772:Ifi207	UTSW	1	173727687	missense	probably damaging	1.00
R4776:Ifi207	UTSW	1	173730056	missense	unknown
R4855:Ifi207	UTSW	1	173729815	missense	probably damaging	0.96
R5170:Ifi207	UTSW	1	173730498	missense	unknown
R5244:Ifi207	UTSW	1	173729937	missense	probably benign	0.04
R5280:Ifi207	UTSW	1	173730304	missense	unknown
R5301:Ifi207	UTSW	1	173729411	missense	possibly damaging	0.83
R5334:Ifi207	UTSW	1	173727531	missense	probably benign	0.21
R5445:Ifi207	UTSW	1	173727797	missense	probably damaging	0.99
R5691:Ifi207	UTSW	1	173732426	missense	unknown
R5838:Ifi207	UTSW	1	173732387	missense	unknown
R6060:Ifi207	UTSW	1	173730527	missense	unknown
R6264:Ifi207	UTSW	1	173727545	missense	probably damaging	1.00
R6307:Ifi207	UTSW	1	173725053	missense	probably damaging	1.00
R6326:Ifi207	UTSW	1	173729966	missense	probably benign	0.01
R6394:Ifi207	UTSW	1	173729015	missense	probably benign	0.43
R6532:Ifi207	UTSW	1	173729645	missense	possibly damaging	0.68
R6660:Ifi207	UTSW	1	173729406	missense	probably benign	0.01
R6893:Ifi207	UTSW	1	173727642	missense	possibly damaging	0.95
R7190:Ifi207	UTSW	1	173730252	missense	unknown
R7192:Ifi207	UTSW	1	173729018	missense	not run
R7194:Ifi207	UTSW	1	173729924	missense	possibly damaging	0.84
R7327:Ifi207	UTSW	1	173729015	missense	probably benign	0.43
R7348:Ifi207	UTSW	1	173729196	small deletion	probably benign
R7404:Ifi207	UTSW	1	173728928	missense	possibly damaging	0.92
R7442:Ifi207	UTSW	1	173727431	missense	probably benign	0.03
R7784:Ifi207	UTSW	1	173730132	missense	unknown
R8041:Ifi207	UTSW	1	173727702	missense	possibly damaging	0.78
R8116:Ifi207	UTSW	1	173730180	missense	unknown
R8383:Ifi207	UTSW	1	173729204	small deletion	probably benign
R8388:Ifi207	UTSW	1	173729450	frame shift	probably null
R8389:Ifi207	UTSW	1	173729450	frame shift	probably null
R8390:Ifi207	UTSW	1	173729450	frame shift	probably null
R8399:Ifi207	UTSW	1	173730278	missense	unknown
R8431:Ifi207	UTSW	1	173730504	missense	unknown
R8474:Ifi207	UTSW	1	173729039	missense	possibly damaging	0.63
R8505:Ifi207	UTSW	1	173729450	frame shift	probably null
R9009:Ifi207	UTSW	1	173727816	missense	probably damaging	0.97
R9071:Ifi207	UTSW	1	173730198	missense	unknown
R9090:Ifi207	UTSW	1	173729196	small deletion	probably benign
R9299:Ifi207	UTSW	1	173728995	small deletion	probably benign
R9323:Ifi207	UTSW	1	173727577	missense	probably damaging	1.00
R9407:Ifi207	UTSW	1	173727668	missense	probably damaging	1.00
R9493:Ifi207	UTSW	1	173728956	missense	probably benign	0.00
RF009:Ifi207	UTSW	1	173728992	missense	probably benign	0.00
RF011:Ifi207	UTSW	1	173729121	missense	not run
RF032:Ifi207	UTSW	1	173735157	small deletion	probably benign
X0003:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0004:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0005:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0009:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0010:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0011:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0012:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0013:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0014:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0017:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0018:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0019:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0020:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0021:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0022:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0023:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0024:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0025:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0026:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0027:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0028:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0033:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0034:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0035:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0036:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0037:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0038:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0039:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0040:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0050:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0052:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0053:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0054:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0057:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0058:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0060:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0061:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0062:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0063:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0064:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0065:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0066:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
X0067:Ifi207	UTSW	1	173728982	missense	probably damaging	0.98
Z1177:Ifi207	UTSW	1	173729579	missense	probably damaging	1.00
Z1187:Ifi207	UTSW	1	173730527	missense	unknown
Z1192:Ifi207	UTSW	1	173730527	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGCATATGGAGCCAGGAGG -3'
(R):5'- TATTTCCAGGCTTCTGTGGC -3'

Sequencing Primer
(F):5'- AGCCAGGAGGATGCTATATGTTG -3'
(R):5'- AGGCTTCTGTGGCACCTC -3'

Posted On

2018-02-27