Mutagenetix > Incidental Mutation

Incidental Mutation 'RF032:Ifi207'

604393

Institutional Source

Beutler Lab

Gene Symbol

Ifi207

Ensembl Gene

ENSMUSG00000073490

Gene Name

interferon activated gene 207

Synonyms

Pyhin-A, AI607873

Accession Numbers

Essential gene?

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

Stock #

RF032 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

173723427-173741747 bp(-) (GRCm38)

Type of Mutation

small deletion (7 aa in frame mutation)

DNA Base Change (assembly)

GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC to GCCTGAGCTGTGGAAGTCTC at 173735157 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119350 (fasta)

Gene Model

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

AlphaFold

E9Q3L4

Predicted Effect

probably benign
Transcript: ENSMUST00000042610

SMART Domains

Protein: ENSMUSP00000048129
Gene: ENSMUSG00000073490

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

SMART Domains

Protein: ENSMUSP00000119350
Gene: ENSMUSG00000073490

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: 99.3%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727 (GRCm38)		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102 (GRCm38)		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588 (GRCm38)		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930 (GRCm38)		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063 (GRCm38)		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283 (GRCm38)		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515 (GRCm38)		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413 (GRCm38)		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182 (GRCm38)		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772 (GRCm38)		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929 (GRCm38)		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778 (GRCm38)		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294 (GRCm38)		probably null	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179 (GRCm38)		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258 (GRCm38)		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489 (GRCm38)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981 (GRCm38)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985 (GRCm38)		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989 (GRCm38)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711 (GRCm38)		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936 (GRCm38)		probably null	Het
Nusap1	TTAGCAGTGAGGAGCAAGCTGAGA	TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA	2: 119,627,587 (GRCm38)		probably benign	Het
Olfr418	GTGACATC	G	1: 173,270,709 (GRCm38)		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972 (GRCm38)		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658 (GRCm38)		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805 (GRCm38)		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939 (GRCm38)		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968 (GRCm38)		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210 (GRCm38)		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923 (GRCm38)		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854 (GRCm38)		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666 (GRCm38)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063 (GRCm38)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074 (GRCm38)		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036 (GRCm38)		probably benign	Het
Vat1l	C	T	8: 114,289,329 (GRCm38)	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092 (GRCm38)		probably benign	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
R6660:Ifi207	UTSW	1	173,729,406 (GRCm38)	missense	probably benign	0.01
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
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

PCR Primer
(F):5'- TACAACCATGGCTCTACCTGG -3'
(R):5'- TCTCCACATCCTAGTAACAGGAG -3'

Sequencing Primer
(F):5'- GACCATGTCATCTCTAGTAGAAGAG -3'
(R):5'- TCCTAGTAACAGGAGAAACATCACTG -3'

Posted On

2019-12-04