Mutagenetix > Incidental Mutations

Incidental Mutation 'R8399:Ifi207'

647746

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

Pyhin-A, AI607873

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R8399 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173723427-173741747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173730278 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 298 (S298L)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000042610
AA Change: S305L

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: S305L

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: S298L

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: S298L

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,489,170	V3384D	possibly damaging	Het
Apba3	C	A	10: 81,268,998	T35N	probably benign	Het
Bcl6	T	C	16: 23,972,948	M219V	probably benign	Het
Bco2	T	A	9: 50,541,118	T217S	probably benign	Het
C1s1	C	T	6: 124,535,293	V277I	probably benign	Het
Ccdc162	T	A	10: 41,539,521	R2149W	probably damaging	Het
Cers6	T	C	2: 68,861,771	F46L	probably benign	Het
Chpf	T	C	1: 75,476,220	I359V	probably benign	Het
Chrnb4	A	C	9: 55,043,823	L52R	probably benign	Het
Cox6a1	T	C	5: 115,345,899	T95A	probably damaging	Het
Def8	T	A	8: 123,455,499	Y197*	probably null	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dnaaf3	C	T	7: 4,523,937		probably null	Het
Dnm1l	T	A	16: 16,321,672	H484L	probably damaging	Het
Eml1	G	A	12: 108,538,131	S783N	possibly damaging	Het
Frmd4a	T	C	2: 4,572,433	S367P	probably damaging	Het
Hck	A	C	2: 153,138,317	K355N	probably damaging	Het
Hexim2	G	T	11: 103,138,503	R127L	probably damaging	Het
Hivep2	T	C	10: 14,132,434	L1592P	possibly damaging	Het
Htr1d	G	A	4: 136,443,375	G305E	probably damaging	Het
Ighv1-11	A	G	12: 114,612,427	V56A	possibly damaging	Het
Ighv7-1	G	A	12: 113,896,912	T12I	unknown	Het
Kctd14	T	C	7: 97,457,604	L22P	probably damaging	Het
Klra17	T	C	6: 129,874,937		probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Maf	T	A	8: 115,706,512	I118F	unknown	Het
Mppe1	T	C	18: 67,225,875	T341A	probably benign	Het
Mtmr2	T	A	9: 13,792,067	V186E	probably benign	Het
Nedd9	G	T	13: 41,318,474	Y176*	probably null	Het
Olfr1145	A	C	2: 87,810,224	M135L	probably damaging	Het
Olfr1238	T	C	2: 89,406,684	T132A	probably benign	Het
Omd	A	G	13: 49,589,869	I132V	possibly damaging	Het
Pcnx4	T	A	12: 72,574,211	M935K	probably benign	Het
Pecr	G	A	1: 72,267,465	T219I	probably benign	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Plcg2	T	C	8: 117,596,362	Y719H	probably damaging	Het
Plk4	C	T	3: 40,808,830	R479*	probably null	Het
Pms1	T	A	1: 53,267,932		probably null	Het
Raph1	C	T	1: 60,489,318	S928N	unknown	Het
Rtp4	G	T	16: 23,520,414		probably benign	Het
Skor1	C	T	9: 63,145,158	V510I	possibly damaging	Het
Smg1	T	C	7: 118,190,571	T699A	unknown	Het
Tcp11l1	T	C	2: 104,685,375	D381G	probably benign	Het
Tnik	T	A	3: 28,494,010	M56K	unknown	Het
Trappc9	G	A	15: 73,052,282	R204C	probably damaging	Het
Trmt10b	A	T	4: 45,305,870	M184L	possibly damaging	Het
Vmn1r224	T	A	17: 20,419,749	I196N	probably damaging	Het
Vmn1r49	A	T	6: 90,072,707	C104*	probably null	Het
Vmn2r35	A	C	7: 7,816,898	S124R	probably benign	Het
Wdr62	T	C	7: 30,258,061	E547G	probably damaging	Het
Zfp68	A	T	5: 138,607,820	D80E	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
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
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
R8431:Ifi207	UTSW	1	173730504	missense	unknown
R8505:Ifi207	UTSW	1	173729450	frame shift	probably null
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

Predicted Primers

PCR Primer
(F):5'- GAGGATCCTCTGTGCTACTGAATG -3'
(R):5'- AGCAACTTCCCAGCTGTAAG -3'

Sequencing Primer
(F):5'- GTCCTGGATACTGCTGGGTACC -3'
(R):5'- GTAAGTGAACTCCCGACCTTTGAAG -3'

Posted On

2020-09-02