Mutagenetix > Incidental Mutation

Incidental Mutation 'R6660:Ifi207'

526792

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

Pyhin-A, AI607873

MMRRC Submission

044780-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R6660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173723427-173741747 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173729406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 589 (T589A)

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

probably benign
Transcript: ENSMUST00000042610
AA Change: T596A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490
AA Change: T596A

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: T589A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490
AA Change: T589A

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: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	A	T	11: 120,346,755 (GRCm38)	I289N	probably damaging	Het
Atg5	A	G	10: 44,294,655 (GRCm38)	N99S	probably benign	Het
Ccdc88a	A	G	11: 29,482,663 (GRCm38)	Q1223R	probably benign	Het
Cdc42	T	C	4: 137,328,834 (GRCm38)	D122G	probably benign	Het
Cpxm1	A	G	2: 130,396,149 (GRCm38)	S127P	probably damaging	Het
Cyfip2	A	G	11: 46,249,807 (GRCm38)	C730R	possibly damaging	Het
Ddx60	T	A	8: 61,956,239 (GRCm38)	H436Q	probably benign	Het
Dnah17	T	C	11: 118,100,188 (GRCm38)	Y1236C	probably benign	Het
Ep400	G	A	5: 110,719,447 (GRCm38)	R1000*	probably null	Het
Ergic3	A	G	2: 156,017,834 (GRCm38)	I227V	probably damaging	Het
Fam227b	G	T	2: 126,144,307 (GRCm38)	P13Q	probably damaging	Het
Fam71d	T	C	12: 78,715,357 (GRCm38)	V265A	possibly damaging	Het
Gal	A	G	19: 3,410,108 (GRCm38)	L121P	possibly damaging	Het
Intu	T	C	3: 40,531,951 (GRCm38)	V27A	probably benign	Het
Lama1	A	T	17: 67,804,500 (GRCm38)	I2249L	probably benign	Het
Pdc	T	C	1: 150,333,335 (GRCm38)	Y190H	probably damaging	Het
Pmm2	T	C	16: 8,655,642 (GRCm38)	L240P	probably damaging	Het
Polr1a	T	C	6: 71,967,374 (GRCm38)	V1275A	probably damaging	Het
Rgsl1	T	A	1: 153,825,766 (GRCm38)	N314I	possibly damaging	Het
Rpe65	A	T	3: 159,614,708 (GRCm38)	N301Y	probably damaging	Het
Ryr1	A	G	7: 29,038,345 (GRCm38)		probably null	Het
Sh3bp4	A	G	1: 89,153,166 (GRCm38)	S902G	possibly damaging	Het
Slc44a4	A	T	17: 34,930,225 (GRCm38)	R705W	probably damaging	Het
Slc4a10	A	G	2: 62,250,403 (GRCm38)	I325V	possibly damaging	Het
Spns1	A	G	7: 126,375,065 (GRCm38)		probably null	Het
Syt6	T	G	3: 103,625,644 (GRCm38)	L363R	probably damaging	Het
Ttn	A	G	2: 76,714,415 (GRCm38)	V32781A	probably benign	Het
Ube2l6	A	G	2: 84,806,508 (GRCm38)	T99A	probably damaging	Het
Unc13b	A	T	4: 43,177,412 (GRCm38)		probably benign	Het
Vmn1r189	A	T	13: 22,101,896 (GRCm38)	L257H	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051 (GRCm38)	N549S	possibly damaging	Het
Zfpm2	T	C	15: 40,655,585 (GRCm38)		probably null	Het

Other mutations in Ifi207

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01776:Ifi207	APN	1	173,725,044 (GRCm38)	missense	probably damaging	1.00
IGL01864:Ifi207	APN	1	173,736,441 (GRCm38)	missense	possibly damaging	0.72
IGL02293:Ifi207	APN	1	173,723,748 (GRCm38)	missense	probably damaging	1.00
IGL02402:Ifi207	APN	1	173,727,593 (GRCm38)	missense	probably damaging	1.00
IGL03160:Ifi207	APN	1	173,735,104 (GRCm38)	splice site	probably benign
PIT4458001:Ifi207	UTSW	1	173,735,172 (GRCm38)	missense	unknown
R0043:Ifi207	UTSW	1	173,729,112 (GRCm38)	missense	possibly damaging	0.48
R0212:Ifi207	UTSW	1	173,736,398 (GRCm38)	missense	possibly damaging	0.85
R0395:Ifi207	UTSW	1	173,729,865 (GRCm38)	missense	possibly damaging	0.85
R0506:Ifi207	UTSW	1	173,736,312 (GRCm38)	missense	possibly damaging	0.52
R0843:Ifi207	UTSW	1	173,727,577 (GRCm38)	missense	probably damaging	1.00
R1302:Ifi207	UTSW	1	173,735,295 (GRCm38)	missense	possibly damaging	0.96
R1373:Ifi207	UTSW	1	173,730,347 (GRCm38)	missense	unknown
R1462:Ifi207	UTSW	1	173,724,947 (GRCm38)	missense	probably damaging	1.00
R1462:Ifi207	UTSW	1	173,724,947 (GRCm38)	missense	probably damaging	1.00
R1471:Ifi207	UTSW	1	173,730,063 (GRCm38)	missense	unknown
R1502:Ifi207	UTSW	1	173,729,306 (GRCm38)	missense	possibly damaging	0.56
R1533:Ifi207	UTSW	1	173,727,740 (GRCm38)	missense	probably benign	0.30
R1831:Ifi207	UTSW	1	173,732,426 (GRCm38)	missense	unknown
R1928:Ifi207	UTSW	1	173,729,645 (GRCm38)	missense	possibly damaging	0.68
R1982:Ifi207	UTSW	1	173,735,239 (GRCm38)	missense	probably benign	0.01
R2132:Ifi207	UTSW	1	173,729,771 (GRCm38)	missense	possibly damaging	0.84
R2248:Ifi207	UTSW	1	173,736,470 (GRCm38)	splice site	probably benign
R3703:Ifi207	UTSW	1	173,727,463 (GRCm38)	nonsense	probably null
R3741:Ifi207	UTSW	1	173,727,562 (GRCm38)	missense	probably damaging	1.00
R3846:Ifi207	UTSW	1	173,735,303 (GRCm38)	missense	probably benign	0.33
R4747:Ifi207	UTSW	1	173,729,067 (GRCm38)	missense	probably benign	0.00
R4772:Ifi207	UTSW	1	173,727,687 (GRCm38)	missense	probably damaging	1.00
R4776:Ifi207	UTSW	1	173,730,056 (GRCm38)	missense	unknown
R4855:Ifi207	UTSW	1	173,729,815 (GRCm38)	missense	probably damaging	0.96
R5170:Ifi207	UTSW	1	173,730,498 (GRCm38)	missense	unknown
R5244:Ifi207	UTSW	1	173,729,937 (GRCm38)	missense	probably benign	0.04
R5280:Ifi207	UTSW	1	173,730,304 (GRCm38)	missense	unknown
R5301:Ifi207	UTSW	1	173,729,411 (GRCm38)	missense	possibly damaging	0.83
R5334:Ifi207	UTSW	1	173,727,531 (GRCm38)	missense	probably benign	0.21
R5445:Ifi207	UTSW	1	173,727,797 (GRCm38)	missense	probably damaging	0.99
R5691:Ifi207	UTSW	1	173,732,426 (GRCm38)	missense	unknown
R5838:Ifi207	UTSW	1	173,732,387 (GRCm38)	missense	unknown
R6060:Ifi207	UTSW	1	173,730,527 (GRCm38)	missense	unknown
R6220:Ifi207	UTSW	1	173,729,546 (GRCm38)	missense	probably damaging	0.99
R6264:Ifi207	UTSW	1	173,727,545 (GRCm38)	missense	probably damaging	1.00
R6307:Ifi207	UTSW	1	173,725,053 (GRCm38)	missense	probably damaging	1.00
R6326:Ifi207	UTSW	1	173,729,966 (GRCm38)	missense	probably benign	0.01
R6394:Ifi207	UTSW	1	173,729,015 (GRCm38)	missense	probably benign	0.43
R6532:Ifi207	UTSW	1	173,729,645 (GRCm38)	missense	possibly damaging	0.68
R6893:Ifi207	UTSW	1	173,727,642 (GRCm38)	missense	possibly damaging	0.95
R7190:Ifi207	UTSW	1	173,730,252 (GRCm38)	missense	unknown
R7192:Ifi207	UTSW	1	173,729,018 (GRCm38)	missense	not run
R7194:Ifi207	UTSW	1	173,729,924 (GRCm38)	missense	possibly damaging	0.84
R7327:Ifi207	UTSW	1	173,729,015 (GRCm38)	missense	probably benign	0.43
R7348:Ifi207	UTSW	1	173,729,196 (GRCm38)	small deletion	probably benign
R7404:Ifi207	UTSW	1	173,728,928 (GRCm38)	missense	possibly damaging	0.92
R7442:Ifi207	UTSW	1	173,727,431 (GRCm38)	missense	probably benign	0.03
R7784:Ifi207	UTSW	1	173,730,132 (GRCm38)	missense	unknown
R8041:Ifi207	UTSW	1	173,727,702 (GRCm38)	missense	possibly damaging	0.78
R8116:Ifi207	UTSW	1	173,730,180 (GRCm38)	missense	unknown
R8166:Ifi207	UTSW	1	173,729,938 (GRCm38)	missense	probably benign	0.10
R8166:Ifi207	UTSW	1	173,729,600 (GRCm38)	missense	possibly damaging	0.95
R8168:Ifi207	UTSW	1	173,729,938 (GRCm38)	missense	probably benign	0.10
R8383:Ifi207	UTSW	1	173,729,204 (GRCm38)	small deletion	probably benign
R8388:Ifi207	UTSW	1	173,729,450 (GRCm38)	frame shift	probably null
R8389:Ifi207	UTSW	1	173,729,450 (GRCm38)	frame shift	probably null
R8390:Ifi207	UTSW	1	173,729,450 (GRCm38)	frame shift	probably null
R8399:Ifi207	UTSW	1	173,730,278 (GRCm38)	missense	unknown
R8431:Ifi207	UTSW	1	173,730,504 (GRCm38)	missense	unknown
R8474:Ifi207	UTSW	1	173,729,039 (GRCm38)	missense	possibly damaging	0.63
R8505:Ifi207	UTSW	1	173,729,450 (GRCm38)	frame shift	probably null
R9009:Ifi207	UTSW	1	173,727,816 (GRCm38)	missense	probably damaging	0.97
R9061:Ifi207	UTSW	1	173,736,587 (GRCm38)	intron	probably benign
R9071:Ifi207	UTSW	1	173,730,198 (GRCm38)	missense	unknown
R9090:Ifi207	UTSW	1	173,729,196 (GRCm38)	small deletion	probably benign
R9323:Ifi207	UTSW	1	173,727,577 (GRCm38)	missense	probably damaging	1.00
R9407:Ifi207	UTSW	1	173,727,668 (GRCm38)	missense	probably damaging	1.00
R9493:Ifi207	UTSW	1	173,728,956 (GRCm38)	missense	probably benign	0.00
R9629:Ifi207	UTSW	1	173,728,995 (GRCm38)	small deletion	probably benign
RF009:Ifi207	UTSW	1	173,728,992 (GRCm38)	missense	probably benign	0.00
RF011:Ifi207	UTSW	1	173,729,121 (GRCm38)	missense	not run
RF032:Ifi207	UTSW	1	173,735,157 (GRCm38)	small deletion	probably benign
X0003:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0004:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0005:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0009:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0010:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0011:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0012:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0013:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0014:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0017:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0018:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0019:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0020:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0021:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0022:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0023:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0024:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0025:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0026:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0027:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0028:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0033:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0034:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0035:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0036:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0037:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0038:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0039:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0040:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0050:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0052:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0053:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0054:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0057:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0058:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0060:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0061:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0062:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0063:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0064:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0065:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0066:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
X0067:Ifi207	UTSW	1	173,728,982 (GRCm38)	missense	probably damaging	0.98
Z1177:Ifi207	UTSW	1	173,729,579 (GRCm38)	missense	probably damaging	1.00
Z1187:Ifi207	UTSW	1	173,730,527 (GRCm38)	missense	unknown
Z1192:Ifi207	UTSW	1	173,730,527 (GRCm38)	missense	unknown

Predicted Primers

Posted On

2018-07-23