Mutagenetix > Incidental Mutation

Incidental Mutation 'BB017:Ifi211'

642930

Institutional Source

Beutler Lab

Gene Symbol

Ifi211

Ensembl Gene

ENSMUSG00000026536

Gene Name

interferon activated gene 211

Synonyms

Ifi205b, Mnda

Accession Numbers

Essential gene?

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

Stock #

BB017

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

173723911-173740612 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 173733769 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 131 (T131A)

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

possibly damaging
Transcript: ENSMUST00000009340
AA Change: T131A

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000009340
Gene: ENSMUSG00000026536
AA Change: T131A

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: 99.7%
20x: 99.2%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Jrkl	T	C	9: 13,245,506 (GRCm39)	I52V	possibly damaging	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
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
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'- GTGCTTCAGTGAAAGCTTGAAG -3'
(R):5'- AAAGACTTGATGGTCCCTAGAC -3'

Sequencing Primer
(F):5'- CTTCAGTGAAAGCTTGAAGAGAAAC -3'
(R):5'- ATGTGGGCTTTCCTGTTCAC -3'

Posted On

2020-08-01