Mutagenetix > Incidental Mutation

Incidental Mutation 'R4776:Ifi207'

367890

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

Pyhin-A, AI607873

MMRRC Submission

042413-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R4776 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

173723427-173741747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 173730056 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 372 (D372V)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

unknown
Transcript: ENSMUST00000042610
AA Change: D379V

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: D379V

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

unknown
Transcript: ENSMUST00000127730
AA Change: D372V

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: D372V

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

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

98% (94/96)

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,719,535	Y683*	probably null	Het
2610028H24Rik	A	T	10: 76,457,512	M156L	probably benign	Het
4930470P17Rik	C	T	2: 170,579,724	A79T	unknown	Het
4930522L14Rik	A	G	5: 109,736,873	I373T	probably benign	Het
A830010M20Rik	C	A	5: 107,510,451	A1117E	probably damaging	Het
Amotl1	G	A	9: 14,593,373	Q217*	probably null	Het
Ankrd28	A	T	14: 31,732,054	C254S	probably damaging	Het
Ap2a1	A	G	7: 44,901,546		probably benign	Het
Arfgef3	A	T	10: 18,654,247	S245T	probably benign	Het
Arntl	A	T	7: 113,285,037	K94I	probably damaging	Het
Atp1b2	A	T	11: 69,601,561	D224E	probably damaging	Het
Boc	G	A	16: 44,487,721	R924W	probably damaging	Het
Car14	C	T	3: 95,898,873	G292D	probably benign	Het
Cenpb	T	C	2: 131,178,183		probably benign	Het
Ces1b	A	T	8: 93,063,030	D423E	possibly damaging	Het
Cfap54	T	A	10: 92,972,694	N1373I	possibly damaging	Het
Chrdl2	T	C	7: 100,006,541		probably benign	Het
Cic	T	G	7: 25,282,883	S12A	possibly damaging	Het
Csmd2	A	T	4: 128,442,892	Q1421L	probably benign	Het
D630039A03Rik	T	C	4: 57,910,452	H120R	possibly damaging	Het
Dicer1	T	A	12: 104,692,446	D1779V	probably damaging	Het
Dock9	G	T	14: 121,610,097	H1016N	possibly damaging	Het
Dxo	T	C	17: 34,838,998	L352P	probably damaging	Het
Eif2b5	T	A	16: 20,500,233	F78I	probably damaging	Het
Eri2	A	G	7: 119,784,946		probably benign	Het
Fam208b	A	G	13: 3,570,391	F2170S	probably damaging	Het
Fbxw7	T	G	3: 84,925,689	L13V	possibly damaging	Het
Fgf7	T	A	2: 126,035,783	C23*	probably null	Het
Fubp1	T	A	3: 152,222,068		probably null	Het
Gm2663	A	T	6: 40,995,953	I240N	probably damaging	Het
Gnb1l	C	T	16: 18,548,096	Q140*	probably null	Het
Gnptab	G	A	10: 88,436,528	R1010Q	probably damaging	Het
Gtf2h1	G	A	7: 46,822,878	W544*	probably null	Het
Gucy2c	C	T	6: 136,722,514	E586K	probably damaging	Het
Hc	T	A	2: 35,039,734	E232V	probably benign	Het
Igkv8-28	A	T	6: 70,144,118	V15E	probably benign	Het
Il1rap	A	G	16: 26,692,799	S198G	possibly damaging	Het
Lct	A	G	1: 128,300,387	I1123T	probably damaging	Het
Lhcgr	T	C	17: 88,742,697	E467G	probably damaging	Het
Macf1	C	T	4: 123,476,015	R86K	probably benign	Het
Maml3	T	A	3: 51,856,532	Q337L	probably benign	Het
March10	T	A	11: 105,390,037	D474V	probably benign	Het
March2	G	T	17: 33,709,916	T2K	probably damaging	Het
Mast1	A	G	8: 84,937,193		probably null	Het
Med12l	T	C	3: 59,233,212	I868T	probably damaging	Het
Msrb1	T	C	17: 24,740,173	S100P	probably damaging	Het
Nlrp4c	T	C	7: 6,066,126	L342P	probably benign	Het
Nrxn3	T	A	12: 90,331,956	V417E	possibly damaging	Het
Ntng1	T	A	3: 109,934,713	D248V	probably damaging	Het
Oaz3	T	C	3: 94,434,998	Q117R	probably benign	Het
Olfr1311	A	G	2: 112,020,931	Y308H	probably benign	Het
Olfr444	A	G	6: 42,955,521	I8V	probably benign	Het
Olfr589	A	G	7: 103,155,414	L111P	probably benign	Het
Osbpl3	A	C	6: 50,300,973	S767A	probably benign	Het
Pafah1b1	A	T	11: 74,685,871		probably benign	Het
Pard6b	A	G	2: 168,098,788	T232A	probably damaging	Het
Paxip1	A	T	5: 27,765,206	C596S	probably damaging	Het
Pnpla6	T	C	8: 3,523,818	V422A	probably benign	Het
Psmd6	A	T	14: 14,120,932		probably benign	Het
Rock2	T	A	12: 16,977,740	C1353S	probably damaging	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Sel1l	T	A	12: 91,813,893	H658L	probably damaging	Het
Sh3yl1	T	A	12: 30,940,314	L105Q	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sirt1	T	C	10: 63,335,722	K227E	probably benign	Het
Slc25a34	A	T	4: 141,623,588	F37I	possibly damaging	Het
Slc39a5	T	A	10: 128,397,049	I378F	probably damaging	Het
Smarcad1	A	T	6: 65,098,824	D731V	probably null	Het
Sox6	T	G	7: 115,541,670	K483N	probably damaging	Het
Sp140	T	A	1: 85,610,828	D95E	possibly damaging	Het
Srgap1	G	T	10: 121,792,351	D882E	probably benign	Het
Syne4	T	C	7: 30,316,833		probably benign	Het
Tec	T	C	5: 72,768,776	Y289C	probably benign	Het
Tmem102	A	T	11: 69,804,802	Y115N	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trav17	T	A	14: 53,806,640	M1K	probably null	Het
Trdn	T	A	10: 33,399,082		probably null	Het
Trp53	A	T	11: 69,586,921	I8F	probably benign	Het
Ttn	T	A	2: 76,754,662	D22064V	probably damaging	Het
Ube3c	G	A	5: 29,632,838		probably null	Het
Ulk1	C	T	5: 110,788,947		probably null	Het
Upp1	T	C	11: 9,135,976	V271A	probably damaging	Het
Vmn2r4	T	C	3: 64,388,661	E901G	probably damaging	Het
Vmn2r96	G	A	17: 18,597,508	G449D	probably damaging	Het
Vps37b	T	C	5: 124,006,612	K165E	probably damaging	Het
Vwf	A	T	6: 125,566,305	I185F	possibly damaging	Het
Wasf2	A	G	4: 133,185,004	T56A	probably benign	Het
Zdhhc23	C	G	16: 43,973,589	D241H	possibly damaging	Het
Zfp276	T	C	8: 123,254,884	S57P	probably benign	Het
Zxdc	A	G	6: 90,370,518	H287R	probably damaging	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
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
R6220:Ifi207	UTSW	1	173729546	missense	probably damaging	0.99
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
R8166:Ifi207	UTSW	1	173729600	missense	possibly damaging	0.95
R8166:Ifi207	UTSW	1	173729938	missense	probably benign	0.10
R8168:Ifi207	UTSW	1	173729938	missense	probably benign	0.10
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
R9061:Ifi207	UTSW	1	173736587	intron	probably benign
R9071:Ifi207	UTSW	1	173730198	missense	unknown
R9090:Ifi207	UTSW	1	173729196	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
R9629:Ifi207	UTSW	1	173728995	small deletion	probably benign
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'- AGAATCTGAATGCTACTGGATCTTG -3'
(R):5'- TTCCATCCAGTCCAGTGGTG -3'

Sequencing Primer
(F):5'- ACTGGATCTTGTTGTTTGAAGTATC -3'
(R):5'- GGTGCCCAGGTTCCTTATGTAC -3'

Posted On

2015-12-29