Mutagenetix > Incidental Mutation

Incidental Mutation 'R6953:Ifi211'

541292

Institutional Source

Beutler Lab

Gene Symbol

Ifi211

Ensembl Gene

ENSMUSG00000026536

Gene Name

interferon activated gene 211

Synonyms

Ifi205b, Mnda

MMRRC Submission

045065-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R6953 (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 173733832 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 110 (T110A)

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 damaging
Transcript: ENSMUST00000009340
AA Change: T110A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: T110A

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: 99.9%
10x: 99.2%
20x: 97.3%

Validation Efficiency

98% (54/55)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130401M01Rik	C	A	15: 57,892,223 (GRCm39)	S128I	probably damaging	Het
Aadacl2	A	C	3: 59,932,181 (GRCm39)	H232P	possibly damaging	Het
Abcc3	A	G	11: 94,265,661 (GRCm39)	Y125H	probably benign	Het
Adgrb3	A	G	1: 25,865,592 (GRCm39)	S84P	probably damaging	Het
Adgrd1	A	T	5: 129,192,142 (GRCm39)	K71*	probably null	Het
Ap2m1	T	A	16: 20,361,468 (GRCm39)	W381R	probably damaging	Het
Ascc3	A	G	10: 50,521,762 (GRCm39)	I426V	probably benign	Het
BC024063	T	A	10: 81,943,733 (GRCm39)	D31E	possibly damaging	Het
C3ar1	G	A	6: 122,827,591 (GRCm39)	H209Y	possibly damaging	Het
Ccp110	T	C	7: 118,321,644 (GRCm39)	V433A	possibly damaging	Het
Cfap54	A	G	10: 92,830,540 (GRCm39)	S1199P	probably benign	Het
Cyp24a1	T	G	2: 170,329,866 (GRCm39)	D362A	probably benign	Het
Dapk2	C	G	9: 66,161,904 (GRCm39)	R271G	probably benign	Het
Dnmt1	G	T	9: 20,829,822 (GRCm39)	Q633K	probably benign	Het
Ercc4	T	A	16: 12,948,550 (GRCm39)	V499D	probably damaging	Het
Ier3ip1	C	G	18: 77,027,309 (GRCm39)	P46R	probably damaging	Het
Isoc1	A	G	18: 58,804,374 (GRCm39)	D134G	possibly damaging	Het
Kif26b	A	G	1: 178,701,637 (GRCm39)	D672G	possibly damaging	Het
Klhl33	T	A	14: 51,128,973 (GRCm39)	D752V	possibly damaging	Het
Lcn4	A	G	2: 26,559,367 (GRCm39)	Y133H	probably benign	Het
Mrs2	C	A	13: 25,185,771 (GRCm39)	V134L	probably benign	Het
Muc16	T	C	9: 18,551,825 (GRCm39)	T4823A	probably benign	Het
Ogfod3	A	G	11: 121,093,824 (GRCm39)	I62T	probably benign	Het
Or2m13	C	T	16: 19,226,278 (GRCm39)	V164I	probably benign	Het
Or2y10	A	G	11: 49,455,117 (GRCm39)	Y123C	probably damaging	Het
Or6c204	A	T	10: 129,022,474 (GRCm39)	M272K	probably benign	Het
Or7e175	A	T	9: 20,049,299 (GRCm39)	I296L	probably benign	Het
Papln	G	A	12: 83,828,659 (GRCm39)	W788*	probably null	Het
Pcdhac2	A	G	18: 37,277,479 (GRCm39)	Q153R	probably benign	Het
Pcdhgb2	C	T	18: 37,823,807 (GRCm39)	T266I	possibly damaging	Het
Pcdhgc5	C	A	18: 37,953,514 (GRCm39)	R263S	possibly damaging	Het
Phactr4	T	C	4: 132,104,662 (GRCm39)	T185A	possibly damaging	Het
Plcxd2	T	C	16: 45,800,882 (GRCm39)	D114G	probably damaging	Het
Polr2a	A	T	11: 69,632,537 (GRCm39)	I987N	probably damaging	Het
Prl3d3	A	G	13: 27,345,029 (GRCm39)	M134V	probably benign	Het
Pum2	T	A	12: 8,778,779 (GRCm39)		probably null	Het
Racgap1	T	C	15: 99,524,210 (GRCm39)	E399G	probably damaging	Het
Sbspon	A	T	1: 15,930,519 (GRCm39)	S156T	probably damaging	Het
Scn1a	T	C	2: 66,149,813 (GRCm39)	T927A	probably damaging	Het
Sec23ip	C	A	7: 128,354,520 (GRCm39)	S78*	probably null	Het
Serpina1d	G	A	12: 103,733,989 (GRCm39)	T105I	probably benign	Het
Slc25a21	T	A	12: 57,205,954 (GRCm39)	N26Y	probably benign	Het
Smim20	T	A	5: 53,435,258 (GRCm39)	D64E	probably damaging	Het
Spag17	T	G	3: 99,942,291 (GRCm39)	I772S	possibly damaging	Het
Tars2	T	C	3: 95,660,426 (GRCm39)	T99A	possibly damaging	Het
Tdrd1	C	T	19: 56,819,803 (GRCm39)	T101I	probably damaging	Het
Tldc2	T	G	2: 156,931,198 (GRCm39)		probably null	Het
Ttn	A	G	2: 76,601,929 (GRCm39)	Y10251H	probably damaging	Het
Ush2a	A	G	1: 187,995,342 (GRCm39)	R38G	possibly damaging	Het
Usp19	T	C	9: 108,376,130 (GRCm39)	L991P	possibly damaging	Het
Vmn2r109	G	A	17: 20,760,973 (GRCm39)	P795S	possibly damaging	Het
Vmn2r26	T	C	6: 124,016,741 (GRCm39)	Y402H	probably benign	Het
Vmn2r-ps117	T	G	17: 19,045,095 (GRCm39)	I504R	probably benign	Het
Zfp551	A	T	7: 12,150,715 (GRCm39)	C231*	probably null	Het
Zfp607a	T	A	7: 27,577,790 (GRCm39)	C287S	possibly damaging	Het
Zim1	T	A	7: 6,690,706 (GRCm39)	T40S	unknown	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
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'- AGAAATCACCTCTGCCTGTCTG -3'
(R):5'- CAAAAGTTGTGCCTTTAGAGTTGTG -3'

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

Posted On

2018-11-28