Mutagenetix > Incidental Mutation

Incidental Mutation 'RF011:Ifi207'

603181

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

AI607873, Pyhin-A

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

RF011 (G1)

Quality Score

84.0076

Status

Not validated

Chromosome

Chromosomal Location

173550993-173569313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 173556687 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Valine at position 684 (L684V)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

not run
Transcript: ENSMUST00000127730
AA Change: L684V

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: L684V

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: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,891,290 (GRCm39)		probably benign	Het
A030005L19Rik	TGCTG	TGCTGTGGCGGCTG	1: 82,891,307 (GRCm39)		probably benign	Het
A030005L19Rik	TGGCTGCTG	TGGCTGCTGGGGCTGCTG	1: 82,891,294 (GRCm39)		probably benign	Het
AI837181	GCG	GCGTCG	19: 5,475,264 (GRCm39)		probably benign	Het
Ankrd24	C	CGGAGGCAGAGGA	10: 81,479,405 (GRCm39)		probably benign	Het
Aqp2	T	C	15: 99,481,753 (GRCm39)	S216P	probably damaging	Het
Brd10	T	C	19: 29,721,009 (GRCm39)	K672R	possibly damaging	Het
Cacna1f	GGA	GGAAGA	X: 7,486,295 (GRCm39)		probably benign	Het
Ccdc170	CCA	CCAGCA	10: 4,511,018 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cela2a	T	C	4: 141,549,026 (GRCm39)	N117D	probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,811,774 (GRCm39)		probably benign	Het
Cyb5r2	A	T	7: 107,350,375 (GRCm39)	S235R	probably benign	Het
Dnmt1	CACAGTTCCTACCTCGTT	CACAGTTCCTACCTCGTTTTGGGGGCGGAGAACAGTTCCTACCTCGTT	9: 20,821,424 (GRCm39)		probably null	Het
Dnmt1	TT	TTTTGGGGGCGGAGCACAGTTCCTACCTCGAT	9: 20,821,440 (GRCm39)		probably null	Het
E4f1	CCG	CCGTCG	17: 24,674,160 (GRCm39)		probably benign	Het
Fam171b	TCCAGCA	TCCAGCACCAGCA	2: 83,643,217 (GRCm39)		probably benign	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Fam81b	CTGTT	CTGTTGTT	13: 76,419,435 (GRCm39)		probably benign	Het
Fkbp1a	GCCGCCGCCA	G	2: 151,384,619 (GRCm39)		probably null	Het
Flii	G	A	11: 60,607,069 (GRCm39)	A969V	probably benign	Het
Fscb	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGTAGGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	AGTGGAACTTCTGCAGGCCCCTCTTCAGTTAGTGGAGGTGGAACTTCTGCAGG	12: 64,519,768 (GRCm39)		probably benign	Het
Gas1	G	GAAA	13: 60,324,345 (GRCm39)		probably benign	Het
Grip1	A	G	10: 119,767,220 (GRCm39)	D115G	probably null	Het
Guca2b	G	T	4: 119,514,044 (GRCm39)	T89N	possibly damaging	Het
Hcn4	T	A	9: 58,767,198 (GRCm39)	S920T	unknown	Het
Heatr1	A	G	13: 12,422,425 (GRCm39)	M484V	probably benign	Het
Iba57	G	T	11: 59,054,438 (GRCm39)	A27E	probably benign	Het
Ints13	T	C	6: 146,457,738 (GRCm39)	H380R	probably damaging	Het
Jmjd1c	C	T	10: 67,055,978 (GRCm39)	T466I	possibly damaging	Het
Kcnh8	G	A	17: 53,285,267 (GRCm39)	R1079H	probably benign	Het
Kif12	C	CCTCCACCCGGCGGGG	4: 63,089,664 (GRCm39)		probably benign	Het
Kmt2c	A	T	5: 25,543,457 (GRCm39)	D1399E	probably damaging	Het
Macf1	A	T	4: 123,367,648 (GRCm39)	L2371Q	probably damaging	Het
Mbd1	GTCTTCGTCTGCATCTGCATCTGCATCT	GTCT	18: 74,406,681 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,401 (GRCm39)		probably benign	Het
Mgam	C	A	6: 40,734,370 (GRCm39)	Q1472K	probably damaging	Het
Mup21	TATACTT	TATACTTTTTAGATACTT	4: 62,067,582 (GRCm39)		probably benign	Het
Nalf2	CGCCGC	CGCCGCAGCCGC	X: 98,864,967 (GRCm39)		probably benign	Het
Nipal1	A	G	5: 72,824,156 (GRCm39)	N167D	probably damaging	Het
Or4d10c	C	T	19: 12,065,611 (GRCm39)	V182I	probably benign	Het
Or5be3	T	A	2: 86,864,385 (GRCm39)	Y60F	probably damaging	Het
Osbpl3	CCTGCA	C	6: 50,325,118 (GRCm39)		probably benign	Het
Phf20	CCCCCCCCC	CCCCCCCCCCCCCCCC	2: 156,146,540 (GRCm39)		probably benign	Het
Phf20	CCCCCCCC	CCCCCCCCCCCCCCC	2: 156,146,541 (GRCm39)		probably benign	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rbm33	CCAGCCGCAGC	CCAGC	5: 28,599,179 (GRCm39)		probably benign	Het
Rubcnl	T	C	14: 75,281,878 (GRCm39)	F445S	probably damaging	Het
S100a10	TTTTTTTA	T	3: 93,471,541 (GRCm39)		probably benign	Het
Sbp	AA	AAAATGCTGACAACGGA	17: 24,164,328 (GRCm39)		probably benign	Het
Sec14l3	A	C	11: 4,017,963 (GRCm39)	Q81P	possibly damaging	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,515 (GRCm39)		probably benign	Het
Six3	CGG	CGGGGG	17: 85,928,796 (GRCm39)		probably benign	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Tbc1d12	CGGAGGAGG	CGG	19: 38,825,401 (GRCm39)		probably benign	Het
Tcof1	AGC	AGCCGC	18: 60,968,811 (GRCm39)		probably benign	Het
Tox2	A	G	2: 163,067,484 (GRCm39)	I68V	probably benign	Het
Triml2	G	T	8: 43,636,201 (GRCm39)		probably benign	Het
Tspan33	A	G	6: 29,716,729 (GRCm39)	Y162C	probably damaging	Het
Zfp384	GGCCCAGGCCCA	GGCCCAGGCCCAAGCCCAGGCCCA	6: 125,013,439 (GRCm39)		probably benign	Het
Zfp948	T	C	17: 21,808,574 (GRCm39)	Y589H	probably damaging	Het
Zic1	T	C	9: 91,246,383 (GRCm39)	I230V	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
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
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

Posted On

2019-12-04