Mutagenetix > Incidental Mutation

Incidental Mutation 'R7765:Ifi214'

628370

Institutional Source

Beutler Lab

Gene Symbol

Ifi214

Ensembl Gene

ENSMUSG00000070501

Gene Name

interferon activated gene 214

Synonyms

BC094916, Pyhin-B

MMRRC Submission

045821-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7765 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173348877-173363523 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 173352402 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 342 (F342L)

Ref Sequence

ENSEMBL: ENSMUSP00000087888 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090406] [ENSMUST00000097463] [ENSMUST00000139092]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000090406
AA Change: F342L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000087888
Gene: ENSMUSG00000070501
AA Change: F342L

Domain	Start	End	E-Value	Type
PYRIN	6	83	5.01e-17	SMART
low complexity region	152	169	N/A	INTRINSIC
Pfam:HIN	231	393	9.1e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097463

SMART Domains

Protein: ENSMUSP00000095071
Gene: ENSMUSG00000070501

Domain	Start	End	E-Value	Type
PYRIN	6	83	5.01e-17	SMART
low complexity region	152	169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000139092

SMART Domains

Protein: ENSMUSP00000115105
Gene: ENSMUSG00000070501

Domain	Start	End	E-Value	Type
PYRIN	6	83	5.01e-17	SMART
low complexity region	152	169	N/A	INTRINSIC

Meta Mutation Damage Score

0.1707

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (62/62)

MGI Phenotype

FUNCTION: This gene encodes a protein that is a member of the PAAD/DAPIN/Pyrin domain family of proteins. However, compared to the related pyrin and HIN domain family, member 1 (Pyhin1) protein, this protein is C-terminally truncated and lacks a HIN domain, which has an unknown function. It is therefore possible that this gene represents a pseudogene of the Pyhin1 gene, but it is currently being retained as a functional protein-coding gene based on the presence of an intact PAAD/DAPIN/Pyrin domain. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	T	C	14: 66,297,345 (GRCm39)	E187G	probably damaging	Het
Adam28	C	T	14: 68,846,555 (GRCm39)		probably null	Het
Ap2a1	G	A	7: 44,559,160 (GRCm39)	T189M	probably damaging	Het
Apaf1	A	G	10: 90,859,644 (GRCm39)	Y845H	probably benign	Het
Asb14	G	T	14: 26,619,718 (GRCm39)	V55F	probably benign	Het
Brap	A	T	5: 121,800,192 (GRCm39)	D71V	probably damaging	Het
Ccdc93	T	G	1: 121,427,042 (GRCm39)	F610V	probably damaging	Het
Cfap46	T	G	7: 139,231,480 (GRCm39)	D911A		Het
Chn2	T	C	6: 54,275,137 (GRCm39)		probably null	Het
Cib3	A	G	8: 72,958,269 (GRCm39)	F156S	probably damaging	Het
Csnk2a1-ps3	G	A	1: 156,352,354 (GRCm39)	G185D	possibly damaging	Het
Ctif	A	T	18: 75,738,715 (GRCm39)	V164D	probably damaging	Het
Ddx27	T	A	2: 166,869,879 (GRCm39)	F405I	probably damaging	Het
Dnttip2	A	G	3: 122,069,594 (GRCm39)	T270A	probably benign	Het
Dst	T	A	1: 34,314,775 (GRCm39)	S4455T	probably damaging	Het
Efcab8	A	G	2: 153,685,110 (GRCm39)	K47R		Het
Efhd2	T	C	4: 141,601,886 (GRCm39)	E98G	probably damaging	Het
Fcmr	T	A	1: 130,802,025 (GRCm39)	L93Q	probably damaging	Het
Fhdc1	T	A	3: 84,351,906 (GRCm39)	E1106D	probably benign	Het
Gcnt1	C	T	19: 17,306,723 (GRCm39)	G334D	probably damaging	Het
Hltf	T	C	3: 20,145,647 (GRCm39)	F488L	probably benign	Het
Hmgxb4	C	A	8: 75,727,436 (GRCm39)	H140N	probably damaging	Het
Ip6k1	A	G	9: 107,909,288 (GRCm39)	D105G	possibly damaging	Het
Kank1	GCGAACG	GCG	19: 25,388,569 (GRCm39)		probably null	Het
Kif18a	G	A	2: 109,137,285 (GRCm39)	D506N	probably benign	Het
Klf17	T	A	4: 117,617,812 (GRCm39)	M182L	probably benign	Het
Kmt2d	A	G	15: 98,750,215 (GRCm39)	F2493L	unknown	Het
Lefty1	A	G	1: 180,764,112 (GRCm39)	E84G	probably damaging	Het
Lyst	T	G	13: 13,884,117 (GRCm39)	L2975R	possibly damaging	Het
Magea5	G	A	X: 153,837,174 (GRCm39)	P73S	possibly damaging	Het
Mctp2	T	C	7: 71,740,079 (GRCm39)		probably null	Het
Mprip	C	T	11: 59,649,047 (GRCm39)	T917M	possibly damaging	Het
Myh8	T	A	11: 67,194,481 (GRCm39)	I1564N	probably benign	Het
Npc1	A	T	18: 12,328,105 (GRCm39)	M1068K	probably benign	Het
Nr2e1	A	G	10: 42,450,433 (GRCm39)	C60R	probably benign	Het
Nrxn3	A	G	12: 89,780,254 (GRCm39)	I29V	probably benign	Het
Ntsr1	T	A	2: 180,180,610 (GRCm39)	H305Q	probably damaging	Het
Or2y1e	A	G	11: 49,218,571 (GRCm39)	E111G	probably damaging	Het
Or8g35	A	G	9: 39,381,612 (GRCm39)	S137P	probably benign	Het
Or8h10	T	A	2: 86,808,538 (GRCm39)	I201F	probably damaging	Het
Pate2	A	C	9: 35,581,197 (GRCm39)	E22D	probably benign	Het
Pcdhb22	A	G	18: 37,652,158 (GRCm39)	T209A	probably damaging	Het
Pdss2	C	T	10: 43,340,628 (GRCm39)	S352F	probably benign	Het
Pfn3	T	A	13: 55,562,900 (GRCm39)	D27V	probably damaging	Het
Pigg	T	G	5: 108,461,920 (GRCm39)	S84A	probably benign	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Prss22	C	T	17: 24,213,592 (GRCm39)	G233E	probably damaging	Het
Rad51b	T	C	12: 79,850,044 (GRCm39)		probably null	Het
Scn10a	A	G	9: 119,438,970 (GRCm39)	V1632A	possibly damaging	Het
Serpinb3d	T	G	1: 107,007,512 (GRCm39)	D158A	probably damaging	Het
Sh3yl1	T	C	12: 31,008,868 (GRCm39)	L266P	probably damaging	Het
Sidt2	A	T	9: 45,852,873 (GRCm39)		probably null	Het
Stox1	C	T	10: 62,501,778 (GRCm39)	V261M	probably benign	Het
Taf7l2	T	A	10: 115,949,158 (GRCm39)	K123*	probably null	Het
Tll1	A	G	8: 64,504,483 (GRCm39)	Y638H	probably damaging	Het
Tst	A	T	15: 78,289,816 (GRCm39)	M73K	possibly damaging	Het
Tuba4a	C	T	1: 75,193,003 (GRCm39)	V232M	probably benign	Het
Unk	T	A	11: 115,943,908 (GRCm39)	V343D	probably benign	Het
Usf3	T	C	16: 44,039,426 (GRCm39)	V1302A	probably benign	Het
Usp32	A	T	11: 84,885,234 (GRCm39)	L1271H	probably damaging	Het
Vwa5b2	C	T	16: 20,413,361 (GRCm39)	P192L	probably benign	Het
Zfp995	A	G	17: 22,100,984 (GRCm39)	Y38H	probably damaging	Het

Other mutations in Ifi214

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01413:Ifi214	APN	1	173,356,995 (GRCm39)	missense	probably damaging	0.99
IGL01418:Ifi214	APN	1	173,356,995 (GRCm39)	missense	probably damaging	0.99
IGL01821:Ifi214	APN	1	173,356,891 (GRCm39)	missense	probably damaging	0.97
IGL03341:Ifi214	APN	1	173,354,082 (GRCm39)	missense	possibly damaging	0.86
PIT4305001:Ifi214	UTSW	1	173,355,485 (GRCm39)	missense	probably benign	0.00
R1908:Ifi214	UTSW	1	173,357,077 (GRCm39)	missense	probably benign	0.44
R4239:Ifi214	UTSW	1	173,352,509 (GRCm39)	missense	possibly damaging	0.92
R4731:Ifi214	UTSW	1	173,354,157 (GRCm39)	missense	probably benign	0.26
R4732:Ifi214	UTSW	1	173,354,157 (GRCm39)	missense	probably benign	0.26
R4733:Ifi214	UTSW	1	173,354,157 (GRCm39)	missense	probably benign	0.26
R5171:Ifi214	UTSW	1	173,354,200 (GRCm39)	missense	possibly damaging	0.93
R5531:Ifi214	UTSW	1	173,352,686 (GRCm39)	missense	probably damaging	1.00
R6290:Ifi214	UTSW	1	173,356,983 (GRCm39)	missense	probably damaging	1.00
R6499:Ifi214	UTSW	1	173,352,597 (GRCm39)	missense	probably damaging	0.99
R7271:Ifi214	UTSW	1	173,357,042 (GRCm39)	missense	probably damaging	0.96
R7290:Ifi214	UTSW	1	173,357,097 (GRCm39)	missense	probably benign	0.03
R8712:Ifi214	UTSW	1	173,355,486 (GRCm39)	missense	possibly damaging	0.83
R8807:Ifi214	UTSW	1	173,354,133 (GRCm39)	missense	possibly damaging	0.86
R9144:Ifi214	UTSW	1	173,355,434 (GRCm39)	missense	possibly damaging	0.92
R9452:Ifi214	UTSW	1	173,356,894 (GRCm39)	missense	possibly damaging	0.79
R9534:Ifi214	UTSW	1	173,354,092 (GRCm39)	missense	probably benign	0.18
R9721:Ifi214	UTSW	1	173,355,479 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ACCGTTTCTTGGCAAAGCTC -3'
(R):5'- GAGAAGTTCATACCAAATAAGGTCC -3'

Sequencing Primer
(F):5'- CTTGGCAAAGCTCTTTCTAAAGC -3'
(R):5'- CTTACCATCTCAAACTATGTTGGCTG -3'

Posted On

2020-03-13