Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Ifi211'

426479

Institutional Source

Beutler Lab

Gene Symbol

Ifi211

Ensembl Gene

ENSMUSG00000026536

Gene Name

interferon activated gene 211

Synonyms

Ifi205b, Mnda

MMRRC Submission

042979-MU

Accession Numbers

Essential gene?

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

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

173723911-173740612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173733829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 111 (T111A)

Ref Sequence

ENSEMBL: ENSMUSP00000009340 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000009340] [ENSMUST00000111210]

AlphaFold

P0DOV1

PDB Structure

Solution structures of the PAAD_DAPIN domain of mus musculus interferon-activatable protein 205 [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000009340
AA Change: T111A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: T111A

Domain	Start	End	E-Value	Type
PYRIN	6	84	1.94e-14	SMART
low complexity region	120	154	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
Pfam:HIN	225	393	2.2e-76	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111210

SMART Domains

Protein: ENSMUSP00000106841
Gene: ENSMUSG00000090272

Domain	Start	End	E-Value	Type
PYRIN	5	83	3.71e-20	SMART
internal_repeat_1	152	166	2.38e-7	PROSPERO
low complexity region	170	200	N/A	INTRINSIC
internal_repeat_1	208	222	2.38e-7	PROSPERO
low complexity region	225	249	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	294	305	N/A	INTRINSIC
Pfam:HIN	311	479	3.4e-76	PFAM
low complexity region	497	507	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the interferon-regulated 200 family of proteins, which contain an N-terminal pyrin domain that is proposed to function in cell death and a partially conserved 220 amino acid domain. Expression of this protein in embryonic stem cells is critical for the DNA damage response and regulation of cell survival. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	A	G	8: 41,134,103 (GRCm39)	M524V	probably benign	Het
Adamts20	T	A	15: 94,179,838 (GRCm39)	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,486,985 (GRCm39)	I1350L	probably damaging	Het
Arhgap17	A	G	7: 122,896,716 (GRCm39)		probably null	Het
Ascl5	A	T	1: 135,978,926 (GRCm39)	I129F	probably damaging	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,112,155 (GRCm39)	N564Y	probably benign	Het
Cdon	G	T	9: 35,381,331 (GRCm39)	D574Y	probably damaging	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Ces1e	T	A	8: 93,937,070 (GRCm39)	I334F	possibly damaging	Het
Clip2	G	A	5: 134,551,645 (GRCm39)	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,255,314 (GRCm39)	T195S	probably benign	Het
Csmd2	C	A	4: 128,442,612 (GRCm39)	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,687,728 (GRCm39)	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,419,297 (GRCm39)	T696M	probably benign	Het
Ep300	T	C	15: 81,533,055 (GRCm39)	M1704T	unknown	Het
Exoc2	A	G	13: 31,048,839 (GRCm39)	F738S	probably damaging	Het
Fis1	A	G	5: 136,994,420 (GRCm39)	E36G	probably damaging	Het
Galnt1	A	G	18: 24,400,604 (GRCm39)	I237V	probably benign	Het
Gspt1	A	T	16: 11,048,374 (GRCm39)	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Hykk	G	A	9: 54,853,350 (GRCm39)	C224Y	probably damaging	Het
Il17rd	T	C	14: 26,817,868 (GRCm39)	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,141,366 (GRCm39)	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,807,143 (GRCm39)	T213A	probably damaging	Het
Madd	C	T	2: 90,984,859 (GRCm39)	R1318Q	probably damaging	Het
Mecom	C	A	3: 30,051,870 (GRCm39)	A182S	probably benign	Het
Or13c25	C	A	4: 52,910,991 (GRCm39)	A268S	probably benign	Het
Or1e1	C	T	11: 73,244,632 (GRCm39)	P18S	probably benign	Het
Or4f56	C	T	2: 111,703,637 (GRCm39)	A188T	probably damaging	Het
Or52z1	A	T	7: 103,436,581 (GRCm39)	V301E	probably damaging	Het
Otud4	T	A	8: 80,399,626 (GRCm39)	M780K	probably benign	Het
Pdia5	A	G	16: 35,273,906 (GRCm39)	V130A	probably damaging	Het
Phldb2	T	A	16: 45,645,975 (GRCm39)	H202L	possibly damaging	Het
Ppig	G	A	2: 69,566,241 (GRCm39)	G136E	probably null	Het
Prr14l	C	A	5: 32,985,121 (GRCm39)	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019 (GRCm39)	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,024,235 (GRCm39)	V182A	possibly damaging	Het
Rai14	A	G	15: 10,575,024 (GRCm39)	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,804,042 (GRCm39)	I115T	probably benign	Het
Rc3h1	G	T	1: 160,792,533 (GRCm39)	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,754,160 (GRCm39)	Q21L	probably benign	Het
Rfx8	A	G	1: 39,749,316 (GRCm39)		probably null	Het
Scap	A	G	9: 110,203,250 (GRCm39)		probably null	Het
Shank1	T	A	7: 44,001,246 (GRCm39)	S988R	unknown	Het
Slc16a14	T	A	1: 84,885,145 (GRCm39)	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,117,232 (GRCm39)		probably null	Het
Tab2	T	C	10: 7,795,585 (GRCm39)	H225R	possibly damaging	Het
Tbx19	T	A	1: 164,987,941 (GRCm39)	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,677,965 (GRCm39)	I268K	probably damaging	Het
Tox2	A	G	2: 163,162,293 (GRCm39)	M388V	probably benign	Het
Trbv17	T	C	6: 41,140,472 (GRCm39)	L109P	probably damaging	Het
Trim72	A	G	7: 127,609,095 (GRCm39)	H299R	probably damaging	Het
Ulbp3	G	A	10: 3,076,473 (GRCm39)		noncoding transcript	Het
Vmn1r63	C	T	7: 5,806,189 (GRCm39)	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,061,092 (GRCm39)	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,657,739 (GRCm39)	V724A	probably benign	Het
Zscan10	T	C	17: 23,829,395 (GRCm39)	F569L	probably damaging	Het

Other mutations in Ifi211

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03258:Ifi211	APN	1	173,733,098 (GRCm39)	missense	probably benign	0.40
IGL03304:Ifi211	APN	1	173,735,273 (GRCm39)	missense	probably damaging	1.00
BB007:Ifi211	UTSW	1	173,733,769 (GRCm39)	missense	possibly damaging	0.91
BB017:Ifi211	UTSW	1	173,733,769 (GRCm39)	missense	possibly damaging	0.91
FR4548:Ifi211	UTSW	1	173,733,759 (GRCm39)	missense	possibly damaging	0.85
R1686:Ifi211	UTSW	1	173,726,969 (GRCm39)	missense	probably damaging	0.99
R2011:Ifi211	UTSW	1	173,735,169 (GRCm39)	missense	probably damaging	0.99
R4657:Ifi211	UTSW	1	173,735,226 (GRCm39)	missense	probably benign	0.03
R5220:Ifi211	UTSW	1	173,735,262 (GRCm39)	missense	probably damaging	1.00
R6644:Ifi211	UTSW	1	173,733,118 (GRCm39)	missense	probably benign	0.42
R6953:Ifi211	UTSW	1	173,733,832 (GRCm39)	missense	probably damaging	1.00
R7451:Ifi211	UTSW	1	173,727,058 (GRCm39)	missense	probably damaging	1.00
R7567:Ifi211	UTSW	1	173,729,401 (GRCm39)	missense	probably damaging	1.00
R7667:Ifi211	UTSW	1	173,727,020 (GRCm39)	missense	probably damaging	1.00
R7930:Ifi211	UTSW	1	173,733,769 (GRCm39)	missense	possibly damaging	0.91
R8499:Ifi211	UTSW	1	173,733,086 (GRCm39)	missense	probably benign	0.40
R9002:Ifi211	UTSW	1	173,733,894 (GRCm39)	missense	possibly damaging	0.68
R9299:Ifi211	UTSW	1	173,735,288 (GRCm39)	missense	probably damaging	0.96
R9562:Ifi211	UTSW	1	173,733,052 (GRCm39)	missense	probably benign	0.43
Z1088:Ifi211	UTSW	1	173,735,226 (GRCm39)	missense	possibly damaging	0.74

Predicted Primers

PCR Primer
(F):5'- GGGAAGAAATCACCTCTGCC -3'
(R):5'- CAAAAGTTGTGCCTTTAGAGTTGTG -3'

Sequencing Primer
(F):5'- GAAGAAATCACCTCTGCCTGTCTG -3'
(R):5'- GCATCGATATAAATGCACCAGAG -3'

Posted On

2016-09-01