Mutagenetix > Incidental Mutation

Incidental Mutation 'R7327:Ifi207'

568969

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

AI607873, Pyhin-A

MMRRC Submission

045420-MU

Accession Numbers

Essential gene?

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

Stock #

R7327 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173550993-173569313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 173556581 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 726 (L726P)

Ref Sequence

ENSEMBL: ENSMUSP00000048129 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

probably benign
Transcript: ENSMUST00000042610
AA Change: L726P

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: L726P

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: L719P

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: L719P

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf3	C	T	16: 20,367,430 (GRCm39)	T3I	probably benign	Het
Ahi1	T	A	10: 20,862,976 (GRCm39)	V717E	probably damaging	Het
Anapc4	A	G	5: 53,002,672 (GRCm39)	T238A	probably damaging	Het
Arhgap27	A	T	11: 103,251,367 (GRCm39)	C120*	probably null	Het
Bdp1	A	T	13: 100,178,040 (GRCm39)	V1943D	probably damaging	Het
Cdc14b	A	G	13: 64,373,461 (GRCm39)	V141A	probably damaging	Het
Cfap46	G	T	7: 139,215,062 (GRCm39)		probably null	Het
Cgnl1	C	A	9: 71,633,165 (GRCm39)	R62L	possibly damaging	Het
Chaf1a	A	G	17: 56,369,573 (GRCm39)	S522G	probably benign	Het
Cox19	A	G	5: 139,328,402 (GRCm39)	F37S	probably damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Cyp4a12a	A	T	4: 115,184,756 (GRCm39)	R346W	probably damaging	Het
Dip2a	A	C	10: 76,108,396 (GRCm39)	C1315G	probably benign	Het
Dmxl2	A	C	9: 54,308,869 (GRCm39)	W1961G	probably damaging	Het
Dst	T	C	1: 34,240,486 (GRCm39)	L1945P	probably damaging	Het
Efr3a	A	G	15: 65,691,627 (GRCm39)	S92G	probably damaging	Het
Ep300	C	T	15: 81,511,515 (GRCm39)	T865I	unknown	Het
Ercc6	A	G	14: 32,248,361 (GRCm39)	E304G	probably benign	Het
Filip1l	A	C	16: 57,391,300 (GRCm39)	E629D	probably damaging	Het
Frem1	G	A	4: 82,938,992 (GRCm39)	T30I	possibly damaging	Het
Glb1	T	C	9: 114,246,126 (GRCm39)	F59S	probably benign	Het
Gli3	T	C	13: 15,900,144 (GRCm39)	L1177P	probably benign	Het
Gpatch2l	A	G	12: 86,303,646 (GRCm39)	T223A	probably damaging	Het
Gpt2	G	A	8: 86,244,681 (GRCm39)	E325K	probably benign	Het
Hmcn1	A	T	1: 150,479,565 (GRCm39)	M4633K	probably benign	Het
Hoxc8	T	A	15: 102,899,542 (GRCm39)	Y111N	probably damaging	Het
Iqcn	T	A	8: 71,169,453 (GRCm39)	M1181K	possibly damaging	Het
Iqgap2	T	A	13: 95,772,163 (GRCm39)	M1339L	probably benign	Het
Kif21b	A	G	1: 136,087,387 (GRCm39)	Q901R	possibly damaging	Het
Krtap4-8	C	A	11: 99,671,234 (GRCm39)	C79F	unknown	Het
Ldb3	T	C	14: 34,293,759 (GRCm39)	N155S	probably damaging	Het
Mad2l1	T	A	6: 66,516,794 (GRCm39)	V162E	probably benign	Het
Map7	T	A	10: 20,109,208 (GRCm39)	V87E	unknown	Het
Mndal	A	T	1: 173,703,185 (GRCm39)	D73E	unknown	Het
Msantd1	T	C	5: 35,075,039 (GRCm39)	S34P	probably damaging	Het
Myh14	T	C	7: 44,260,977 (GRCm39)	Q1838R	possibly damaging	Het
Myh15	G	T	16: 48,993,369 (GRCm39)	R1668L	possibly damaging	Het
Ncoa7	A	G	10: 30,565,796 (GRCm39)	M666T	probably damaging	Het
Nol6	A	T	4: 41,116,686 (GRCm39)	L944Q	probably benign	Het
Or5h27	A	T	16: 59,006,376 (GRCm39)	F157I	unknown	Het
Orc1	A	G	4: 108,445,911 (GRCm39)	T10A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Pglyrp2	C	T	17: 32,634,893 (GRCm39)	A490T	probably benign	Het
Pirb	A	T	7: 3,720,187 (GRCm39)	C395*	probably null	Het
Ppp1r11	T	C	17: 37,261,900 (GRCm39)	R12G	possibly damaging	Het
Prlr	A	G	15: 10,346,524 (GRCm39)	D290G	probably benign	Het
Ptpn21	G	T	12: 98,646,360 (GRCm39)	R1033S	probably damaging	Het
Rad54l2	A	G	9: 106,570,660 (GRCm39)	L1220P	possibly damaging	Het
Rufy3	G	A	5: 88,790,811 (GRCm39)	R504H	probably damaging	Het
Scgb2b21	C	T	7: 33,219,330 (GRCm39)	V25I	probably benign	Het
Sh3bgrl2	T	C	9: 83,430,542 (GRCm39)	S11P	possibly damaging	Het
Slain2	A	T	5: 73,132,002 (GRCm39)	T498S	probably benign	Het
Slc12a4	C	T	8: 106,682,347 (GRCm39)	G121S	probably damaging	Het
Slc30a9	A	T	5: 67,499,462 (GRCm39)	I307F	probably damaging	Het
Snap91	C	T	9: 86,655,598 (GRCm39)	G800R	unknown	Het
Tnc	G	T	4: 63,882,999 (GRCm39)		probably null	Het
Trav21-dv12	T	C	14: 54,113,514 (GRCm39)		probably benign	Het
Txk	A	T	5: 72,873,226 (GRCm39)	I228N	probably damaging	Het
Vac14	T	C	8: 111,438,252 (GRCm39)	Y622H	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr35	T	G	12: 9,037,312 (GRCm39)	M306R	probably benign	Het
Zan	A	T	5: 137,463,494 (GRCm39)	S562T	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
R1533:Ifi207	UTSW	1	173,555,306 (GRCm39)	missense	probably benign	0.30
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
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'- GAAGCCTTCTTAGTTTGTGCTAATG -3'
(R):5'- GGCTCCACATGCAACTTCATC -3'

Sequencing Primer
(F):5'- GCCTGTCATTATATTGTTAGAAGAGG -3'
(R):5'- GCATCTAGCAACCTCCTGG -3'

Posted On

2019-09-13