Mutagenetix > Incidental Mutation

Incidental Mutation 'R6307:Ifi207'

509444

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

AI607873, Pyhin-A

MMRRC Submission

044412-MU

Accession Numbers

Essential gene?

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

Stock #

R6307 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173550993-173569313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 173552619 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 926 (Y926D)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000042610
AA Change: Y933D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: Y933D

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 damaging
Transcript: ENSMUST00000127730
AA Change: Y926D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: Y926D

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: 99.3%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	T	C	10: 79,843,221 (GRCm39)	L1232P	probably damaging	Het
Akap6	A	T	12: 53,188,351 (GRCm39)	I1922F	possibly damaging	Het
Ankdd1a	C	T	9: 65,415,343 (GRCm39)	A227T	possibly damaging	Het
Arpc5	T	C	1: 152,647,206 (GRCm39)	V103A	possibly damaging	Het
Atp9a	C	A	2: 168,510,090 (GRCm39)	V430F	probably benign	Het
Bod1	A	G	11: 31,616,932 (GRCm39)	S110P	probably damaging	Het
Cacna1c	C	A	6: 118,590,914 (GRCm39)	V1453F	probably damaging	Het
Capn8	T	A	1: 182,435,264 (GRCm39)	M414K	probably damaging	Het
Cbl	A	T	9: 44,069,809 (GRCm39)		probably null	Het
Ccdc42	A	T	11: 68,479,106 (GRCm39)	Q98L	probably damaging	Het
Ccn3	T	C	15: 54,611,421 (GRCm39)		probably null	Het
Cd200	C	A	16: 45,217,545 (GRCm39)	V49L	probably benign	Het
Celsr1	A	G	15: 85,812,531 (GRCm39)	S2060P	probably benign	Het
Ces1g	A	T	8: 94,057,820 (GRCm39)	H160Q	possibly damaging	Het
Chrnb2	G	T	3: 89,668,831 (GRCm39)	H161Q	probably damaging	Het
Ctns	G	A	11: 73,082,559 (GRCm39)	T57I	probably benign	Het
Cyp3a25	A	T	5: 145,931,766 (GRCm39)	M114K	possibly damaging	Het
D630003M21Rik	A	G	2: 158,057,871 (GRCm39)	F536L	probably benign	Het
Dcc	C	T	18: 71,943,826 (GRCm39)	R275Q	probably benign	Het
Dmxl2	A	T	9: 54,289,990 (GRCm39)	H2508Q	possibly damaging	Het
Elf5	C	A	2: 103,269,757 (GRCm39)	Q113K	probably damaging	Het
Fam83a	T	G	15: 57,849,507 (GRCm39)	V17G	possibly damaging	Het
Farsa	T	C	8: 85,587,674 (GRCm39)		probably null	Het
Fat2	G	C	11: 55,172,106 (GRCm39)	T2869S	possibly damaging	Het
Fgg	A	T	3: 82,920,283 (GRCm39)	Q354L	probably damaging	Het
Folh1	T	C	7: 86,372,517 (GRCm39)	D679G	probably damaging	Het
Gbp4	T	A	5: 105,270,975 (GRCm39)	R83*	probably null	Het
Gm17482	T	A	6: 115,204,311 (GRCm39)		probably benign	Het
Hmgxb4	T	A	8: 75,749,927 (GRCm39)	V481D	possibly damaging	Het
Ikzf5	T	A	7: 130,993,377 (GRCm39)	N264Y	probably damaging	Het
Kat6a	T	A	8: 23,430,384 (GRCm39)	M1913K	unknown	Het
Krt33b	A	T	11: 99,915,694 (GRCm39)	C351S	probably benign	Het
Lrp1	T	C	10: 127,427,944 (GRCm39)	D543G	probably damaging	Het
Lrrfip2	C	T	9: 111,053,021 (GRCm39)	R339W	probably damaging	Het
Mapk3	T	G	7: 126,363,454 (GRCm39)	M276R	probably benign	Het
Mgst1	T	C	6: 138,127,827 (GRCm39)	V137A	probably benign	Het
Muc16	T	C	9: 18,558,884 (GRCm39)	T2470A	unknown	Het
Muc4	C	T	16: 32,575,237 (GRCm39)	S1274F	possibly damaging	Het
Myo5c	A	C	9: 75,180,198 (GRCm39)	K713T	possibly damaging	Het
Myzap	T	C	9: 71,466,146 (GRCm39)	D170G	possibly damaging	Het
Naa50	T	C	16: 43,979,831 (GRCm39)	V113A	probably damaging	Het
Neu3	T	C	7: 99,462,929 (GRCm39)	T265A	probably benign	Het
Nin	T	C	12: 70,061,631 (GRCm39)	T2078A	possibly damaging	Het
Nomo1	G	A	7: 45,683,260 (GRCm39)		probably benign	Het
Nprl3	A	G	11: 32,189,828 (GRCm39)	L273P	probably damaging	Het
Oaf	T	A	9: 43,136,216 (GRCm39)	H120L	possibly damaging	Het
Or10s1	T	C	9: 39,985,824 (GRCm39)	S78P	probably damaging	Het
Or13p4	C	T	4: 118,547,145 (GRCm39)	R168H	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Or8k21	T	C	2: 86,145,468 (GRCm39)	H54R	probably benign	Het
Pcdhga3	T	A	18: 37,809,674 (GRCm39)		probably benign	Het
Polq	G	A	16: 36,837,718 (GRCm39)		probably null	Het
Prdm8	C	T	5: 98,333,162 (GRCm39)	P243L	possibly damaging	Het
Prim2	T	C	1: 33,701,373 (GRCm39)	D138G	probably benign	Het
Prl2c5	A	G	13: 13,365,175 (GRCm39)	E107G	probably benign	Het
Prr14l	T	A	5: 32,984,869 (GRCm39)	H1542L	probably damaging	Het
Rab26	T	C	17: 24,749,072 (GRCm39)	E203G	probably damaging	Het
Rtkn2	A	T	10: 67,871,662 (GRCm39)	H350L	possibly damaging	Het
Scara3	T	C	14: 66,175,710 (GRCm39)	D19G	probably benign	Het
Scn3a	A	G	2: 65,302,685 (GRCm39)	S1254P	probably damaging	Het
Sdcbp	A	G	4: 6,385,059 (GRCm39)	M93V	probably benign	Het
Sema6a	C	A	18: 47,382,231 (GRCm39)	R772L	probably damaging	Het
Slc5a7	T	C	17: 54,584,006 (GRCm39)	K428R	probably benign	Het
Sptbn2	G	A	19: 4,774,674 (GRCm39)	G109D	probably damaging	Het
Tmppe	T	C	9: 114,233,812 (GRCm39)	L37P	probably benign	Het
Tuba1a	T	C	15: 98,849,410 (GRCm39)	T56A	probably benign	Het
Tut4	T	A	4: 108,412,817 (GRCm39)	I1506N	probably damaging	Het
Vmn2r111	A	G	17: 22,792,070 (GRCm39)	I62T	probably benign	Het
Vmn2r73	A	G	7: 85,506,828 (GRCm39)	I828T	probably damaging	Het
Vmn2r79	T	A	7: 86,686,976 (GRCm39)	W786R	probably damaging	Het
Zp1	G	A	19: 10,894,084 (GRCm39)	T405M	probably null	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
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'- TGCCAATAGTCATGCTTTGCTAG -3'
(R):5'- GGTTTGACCAAAAGCACCCTTG -3'

Sequencing Primer
(F):5'- GTGCCTTACAGACTTCAG -3'
(R):5'- CCTAAGAACCATAGTTGCCTGGTTG -3'

Posted On

2018-04-02