Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Ifi207'

158401

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

AI607873, Pyhin-A

MMRRC Submission

039368-MU

Accession Numbers

Essential gene?

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

Stock #

R1302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173550993-173569313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173562861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 95 (L95Q)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042610
AA Change: L95Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: L95Q

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

possibly damaging
Transcript: ENSMUST00000127730
AA Change: L95Q

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: L95Q

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: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 125,566,607 (GRCm39)	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,837,477 (GRCm39)	Y279H	probably damaging	Het
Abcg2	T	A	6: 58,662,802 (GRCm39)	M548K	probably damaging	Het
Acat1	T	C	9: 53,500,525 (GRCm39)	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,080,752 (GRCm39)	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,322,328 (GRCm39)	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,092,403 (GRCm39)	G275S	probably damaging	Het
Ascc3	T	A	10: 50,480,890 (GRCm39)	M1K	probably null	Het
Atf7ip2	T	C	16: 10,058,472 (GRCm39)	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518 (GRCm39)	C333*	probably null	Het
Ccdc68	G	A	18: 70,072,033 (GRCm39)	V37M	probably damaging	Het
Cda	T	A	4: 138,078,502 (GRCm39)	I87F	probably damaging	Het
Chst1	A	T	2: 92,443,864 (GRCm39)	D112V	probably damaging	Het
Chtf18	T	C	17: 25,938,132 (GRCm39)	D967G	probably damaging	Het
Col5a1	A	G	2: 27,895,248 (GRCm39)	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,199,376 (GRCm39)	F12V	probably damaging	Het
Ctif	G	T	18: 75,654,749 (GRCm39)	P259Q	probably benign	Het
Duox1	A	T	2: 122,177,760 (GRCm39)	I1515F	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Flt1	A	G	5: 147,501,050 (GRCm39)	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,562,959 (GRCm39)	D516G	probably benign	Het
Gin1	A	T	1: 97,703,314 (GRCm39)	K46*	probably null	Het
Gle1	C	G	2: 29,842,564 (GRCm39)		probably null	Het
Gm11146	T	G	16: 77,398,970 (GRCm39)	I5L	unknown	Het
Gpr153	C	T	4: 152,364,400 (GRCm39)	T152M	probably damaging	Het
H1f8	A	T	6: 115,924,610 (GRCm39)	R39*	probably null	Het
Hdlbp	A	T	1: 93,351,107 (GRCm39)		probably null	Het
Ikzf3	G	T	11: 98,407,746 (GRCm39)	P32T	probably benign	Het
Ints10	T	A	8: 69,279,964 (GRCm39)	V697E	probably damaging	Het
Krt14	A	G	11: 100,094,173 (GRCm39)	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,203,667 (GRCm39)	I388F	unknown	Het
Ldha	A	C	7: 46,497,063 (GRCm39)	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,161,267 (GRCm39)	S232P	probably benign	Het
Med1	G	T	11: 98,048,275 (GRCm39)	D840E	possibly damaging	Het
Med23	T	A	10: 24,764,320 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,099 (GRCm39)	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,351,301 (GRCm39)	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,342,371 (GRCm39)	S425P	possibly damaging	Het
Nova1	A	T	12: 46,767,581 (GRCm39)	H113Q	unknown	Het
Npc1	T	C	18: 12,328,142 (GRCm39)	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,407,233 (GRCm39)	H354R	probably benign	Het
Ogfod3	A	G	11: 121,074,300 (GRCm39)	F250L	probably damaging	Het
Pclo	A	G	5: 14,731,647 (GRCm39)	D3383G	unknown	Het
Pde1b	T	A	15: 103,436,026 (GRCm39)	D457E	probably benign	Het
Pkd1	C	G	17: 24,787,210 (GRCm39)	S581R	probably benign	Het
Pno1	T	A	11: 17,154,545 (GRCm39)	Q212L	probably benign	Het
Polr3b	C	T	10: 84,468,350 (GRCm39)	P112L	probably damaging	Het
Pomk	T	A	8: 26,473,102 (GRCm39)	I284F	probably damaging	Het
Rapgef4	A	T	2: 71,875,504 (GRCm39)	D119V	probably benign	Het
Rprm	A	T	2: 53,975,165 (GRCm39)	L51Q	probably benign	Het
Spata31e5	A	T	1: 28,815,421 (GRCm39)	D870E	probably benign	Het
Taok3	A	C	5: 117,337,108 (GRCm39)	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,730,963 (GRCm39)	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,333,879 (GRCm39)	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,723 (GRCm39)	D235E	possibly damaging	Het
Vapb	C	A	2: 173,613,330 (GRCm39)	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,387,465 (GRCm39)	I700V	probably damaging	Het
Wwc1	G	A	11: 35,734,984 (GRCm39)	R964W	probably damaging	Het
Zfp644	A	T	5: 106,782,765 (GRCm39)	V1203D	probably damaging	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
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
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'- AAGAGGAATCACCTCTGCCTGTCTGC -3'
(R):5'- GACTGAGATACATGGGCTTCAAGAGCA -3'

Sequencing Primer
(F):5'- CTCACCTGGGCTGTAGAAG -3'
(R):5'- TTAGAGTTGTGTTGCTAGAGTAAAC -3'

Posted On

2014-02-18