Mutagenetix > Incidental Mutation

Incidental Mutation 'R8499:Ifi211'

658398

Institutional Source

Beutler Lab

Gene Symbol

Ifi211

Ensembl Gene

ENSMUSG00000026536

Gene Name

interferon activated gene 211

Synonyms

Ifi205b, Mnda

MMRRC Submission

067941-MU

Accession Numbers

Essential gene?

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

Stock #

R8499 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

173723911-173740612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173733086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 192 (I192V)

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: I192V

PolyPhen 2 Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: I192V

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (49/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	G	8: 41,208,189 (GRCm39)	D485G	probably damaging	Het
Ap4b1	G	A	3: 103,728,018 (GRCm39)	R344Q	probably damaging	Het
Apol7c	G	T	15: 77,410,280 (GRCm39)	P222Q	possibly damaging	Het
Atf6b	T	C	17: 34,869,796 (GRCm39)	L272P	probably damaging	Het
Atp11b	G	T	3: 35,864,854 (GRCm39)	R559I	probably benign	Het
Bhmt	T	A	13: 93,756,600 (GRCm39)	I343F	probably benign	Het
Btbd7	A	T	12: 102,754,631 (GRCm39)	F712I	probably damaging	Het
Card14	T	C	11: 119,222,070 (GRCm39)	L455P	probably benign	Het
Cast	A	T	13: 74,946,835 (GRCm39)	H26Q	probably benign	Het
Clcn1	A	G	6: 42,284,133 (GRCm39)	N567S	probably damaging	Het
Cnot6l	A	T	5: 96,225,176 (GRCm39)	W506R	probably damaging	Het
Dynap	T	A	18: 70,374,044 (GRCm39)	I161L	unknown	Het
Eif4g3	A	C	4: 137,893,239 (GRCm39)	T996P	probably damaging	Het
Exoc8	A	G	8: 125,623,849 (GRCm39)	Y173H	probably benign	Het
Fbll1	C	T	11: 35,688,907 (GRCm39)	V119M	probably damaging	Het
Fbxw22	A	T	9: 109,214,068 (GRCm39)	F249L	probably benign	Het
Fxyd1	C	A	7: 30,752,529 (GRCm39)		probably benign	Het
Grhl3	C	A	4: 135,276,549 (GRCm39)		probably null	Het
Grk4	A	G	5: 34,902,690 (GRCm39)	E414G	possibly damaging	Het
H2bc8	T	A	13: 23,755,880 (GRCm39)	S92T	probably benign	Het
H2-Q5	A	G	17: 35,613,820 (GRCm39)	D123G		Het
H2-Q5	C	T	17: 35,613,945 (GRCm39)	R165*	probably null	Het
Hgf	A	T	5: 16,771,854 (GRCm39)	E160D	probably damaging	Het
Klk1b22	T	C	7: 43,762,144 (GRCm39)	F7L	probably benign	Het
Lcmt1	C	A	7: 123,029,371 (GRCm39)	T331N	probably benign	Het
Lrrc36	A	T	8: 106,176,168 (GRCm39)	T181S	possibly damaging	Het
Ltbp3	T	A	19: 5,798,712 (GRCm39)	S520T	probably benign	Het
Nacc1	A	T	8: 85,403,345 (GRCm39)	C177S	probably damaging	Het
Nedd4l	T	A	18: 65,342,728 (GRCm39)	V888E	probably damaging	Het
Oc90	C	T	15: 65,753,405 (GRCm39)	G305S	probably damaging	Het
Or51a25	A	G	7: 102,372,932 (GRCm39)	V255A	probably damaging	Het
Or52i2	T	A	7: 102,320,012 (GRCm39)	I295N	probably damaging	Het
Pappa2	T	A	1: 158,764,092 (GRCm39)	D473V	probably damaging	Het
Pou2f2	C	A	7: 24,799,623 (GRCm39)	G117C	probably damaging	Het
Prkci	A	G	3: 31,079,366 (GRCm39)	H68R	probably damaging	Het
Pygm	A	G	19: 6,440,392 (GRCm39)	K479E	probably damaging	Het
Qpct	A	G	17: 79,384,996 (GRCm39)	D212G	probably damaging	Het
Sh3glb2	A	T	2: 30,249,216 (GRCm39)	M1K	probably null	Het
Slc22a5	A	G	11: 53,758,469 (GRCm39)	S444P	probably damaging	Het
Snai3	G	A	8: 123,183,144 (GRCm39)	H134Y	probably benign	Het
Synpo	T	C	18: 60,736,044 (GRCm39)	D395G	probably damaging	Het
Tmem63c	C	T	12: 87,119,738 (GRCm39)	T344I	probably damaging	Het
Tnfsf14	A	G	17: 57,497,534 (GRCm39)	Y233H		Het
Ttn	A	G	2: 76,749,335 (GRCm39)	F3905L	probably benign	Het
Tubgcp5	T	A	7: 55,454,363 (GRCm39)	H219Q	possibly damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Vmn1r59	C	T	7: 5,457,750 (GRCm39)	M3I	probably benign	Het
Vmn2r61	T	A	7: 41,949,700 (GRCm39)	C707S	probably damaging	Het
Vps13b	T	C	15: 35,841,466 (GRCm39)	S2499P	probably damaging	Het
Ythdf3	A	G	3: 16,259,179 (GRCm39)	E442G	possibly damaging	Het
Zfp1001	T	C	2: 150,204,907 (GRCm39)	S74P	probably benign	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
R5410:Ifi211	UTSW	1	173,733,829 (GRCm39)	missense	probably benign	0.08
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
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'- AGGTTGTGTATGAGTCAGCTAATTC -3'
(R):5'- GAAGACACACTCTGCTCAATTG -3'

Sequencing Primer
(F):5'- CATCTGTTTCTGTCCTTGTATGATG -3'
(R):5'- TGATTAGATCCATTAACAGGGCAGTG -3'

Posted On

2021-01-18