Mutagenetix > Incidental Mutation

Incidental Mutation 'R2254:Ifi204'

241846

Institutional Source

Beutler Lab

Gene Symbol

Ifi204

Ensembl Gene

ENSMUSG00000073489

Gene Name

interferon activated gene 204

Synonyms

p204

MMRRC Submission

040254-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R2254 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

173747293-173766943 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 173761730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 45 (T45M)

Ref Sequence

ENSEMBL: ENSMUSP00000106845 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111214]

AlphaFold

P0DOV2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111214
AA Change: T45M

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000106845
Gene: ENSMUSG00000073489
AA Change: T45M

Domain	Start	End	E-Value	Type
PYRIN	6	84	8.33e-14	SMART
low complexity region	120	154	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
Pfam:HIN	225	393	6.2e-78	PFAM
Pfam:HIN	429	595	9.8e-78	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192414

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	G	T	7: 131,222,905	C243F	probably damaging	Het
Actn2	T	C	13: 12,296,479	E260G	probably benign	Het
AI429214	G	T	8: 36,993,766	D23Y	possibly damaging	Het
Alms1	A	G	6: 85,619,848	Y1021C	probably damaging	Het
Ang5	A	G	14: 43,962,617	D46G	probably benign	Het
Ano9	T	A	7: 141,103,090	D635V	probably benign	Het
Apob	C	T	12: 8,011,256	T3246I	possibly damaging	Het
Arhgef25	T	C	10: 127,189,521	E63G	probably benign	Het
B3gnt4	A	C	5: 123,511,279	I236L	probably damaging	Het
Bmper	T	A	9: 23,381,463	I356N	possibly damaging	Het
Capn3	A	G	2: 120,501,251	E614G	probably benign	Het
Ccdc90b	T	A	7: 92,572,568	H118Q	probably damaging	Het
Cdh2	A	T	18: 16,643,928		probably null	Het
Chmp7	C	T	14: 69,720,956	V255I	probably damaging	Het
Dnhd1	T	A	7: 105,703,772	S2711T	probably damaging	Het
Gabrg1	T	A	5: 70,782,364	K137*	probably null	Het
Gdi2	T	A	13: 3,554,400		probably null	Het
Glyr1	A	G	16: 5,019,013	V429A	probably benign	Het
Gm5938	T	A	X: 78,128,555		probably null	Het
Golt1b	T	C	6: 142,396,253	L121P	probably damaging	Het
Gpi1	T	C	7: 34,202,877	N471S	probably damaging	Het
Il18r1	A	G	1: 40,491,220	N369S	possibly damaging	Het
Kcnh1	G	T	1: 192,505,414		probably null	Het
Kitl	G	A	10: 100,080,131		probably null	Het
Krt33a	A	T	11: 100,014,178	D167E	possibly damaging	Het
Lax1	A	G	1: 133,680,233	S257P	probably damaging	Het
Lepr	T	C	4: 101,815,112	I1111T	probably benign	Het
Lrrcc1	G	A	3: 14,547,255	R356H	probably damaging	Het
Map1a	A	G	2: 121,303,791	D1458G	possibly damaging	Het
Med11	T	C	11: 70,452,095		probably null	Het
Mtmr2	T	C	9: 13,796,057	Y230H	possibly damaging	Het
Nup93	T	C	8: 94,227,857		probably null	Het
Olfr610	A	G	7: 103,506,064	V294A	probably damaging	Het
Ovch2	A	G	7: 107,790,195	V342A	probably benign	Het
Ovgp1	A	G	3: 105,986,912		probably benign	Het
Oxtr	A	T	6: 112,489,106	L231Q	probably damaging	Het
Prap1	A	G	7: 140,096,162	T30A	probably damaging	Het
Scg2	G	A	1: 79,436,500	P169S	probably damaging	Het
Scube2	A	G	7: 109,825,459	V549A	possibly damaging	Het
Slc22a12	A	T	19: 6,542,541	V57D	possibly damaging	Het
Slc22a28	A	C	19: 8,064,493	C450G	probably benign	Het
Tas2r120	A	T	6: 132,657,609	Q218L	probably benign	Het
Tbx15	A	G	3: 99,351,874	T354A	possibly damaging	Het
Trim24	A	G	6: 37,958,677	T868A	probably benign	Het
Ttn	T	A	2: 76,768,340	M19410L	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Upb1	G	A	10: 75,436,217	R288H	probably damaging	Het
Wdr20rt	T	A	12: 65,226,233	W56R	probably damaging	Het
Wdr62	T	G	7: 30,267,903	I309L	probably damaging	Het
Zer1	G	A	2: 30,108,274	L342F	probably damaging	Het
Zfp40	T	C	17: 23,178,370	D51G	possibly damaging	Het
Zfp64	G	A	2: 168,926,742	H317Y	probably damaging	Het

Other mutations in Ifi204

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00906:Ifi204	APN	1	173759631	splice site	probably benign
IGL01922:Ifi204	APN	1	173761722	missense	possibly damaging	0.51
IGL02296:Ifi204	APN	1	173749314	missense	possibly damaging	0.93
IGL02419:Ifi204	APN	1	173749380	missense	possibly damaging	0.71
IGL02505:Ifi204	APN	1	173755654	missense	probably benign	0.04
R0938:Ifi204	UTSW	1	173751745	missense	possibly damaging	0.85
R1363:Ifi204	UTSW	1	173749296	missense	probably benign	0.00
R1834:Ifi204	UTSW	1	173747606	missense	unknown
R2031:Ifi204	UTSW	1	173752777	missense	probably damaging	1.00
R2379:Ifi204	UTSW	1	173755993	nonsense	probably null
R2408:Ifi204	UTSW	1	173755632	missense	possibly damaging	0.80
R3011:Ifi204	UTSW	1	173751651	missense	probably benign	0.01
R3617:Ifi204	UTSW	1	173755717	missense	possibly damaging	0.51
R3894:Ifi204	UTSW	1	173749208	missense	possibly damaging	0.86
R3916:Ifi204	UTSW	1	173755775	missense	possibly damaging	0.95
R4656:Ifi204	UTSW	1	173760361	intron	probably benign
R4657:Ifi204	UTSW	1	173760361	intron	probably benign
R4694:Ifi204	UTSW	1	173749259	missense	probably damaging	0.99
R4703:Ifi204	UTSW	1	173760361	intron	probably benign
R4704:Ifi204	UTSW	1	173760361	intron	probably benign
R4894:Ifi204	UTSW	1	173760242	missense	probably damaging	0.98
R4947:Ifi204	UTSW	1	173755750	missense	probably damaging	0.98
R5023:Ifi204	UTSW	1	173751740	missense	possibly damaging	0.93
R5036:Ifi204	UTSW	1	173752745	missense	possibly damaging	0.79
R5119:Ifi204	UTSW	1	173755668	missense	probably damaging	1.00
R5194:Ifi204	UTSW	1	173749344	missense	possibly damaging	0.86
R5762:Ifi204	UTSW	1	173752759	missense	probably damaging	0.98
R6063:Ifi204	UTSW	1	173751657	missense	probably benign	0.03
R6808:Ifi204	UTSW	1	173761703	missense	probably benign	0.27
R7311:Ifi204	UTSW	1	173759568	missense	probably benign	0.26
R7338:Ifi204	UTSW	1	173760137	missense	possibly damaging	0.67
R7430:Ifi204	UTSW	1	173755681	missense	probably benign	0.43
R7528:Ifi204	UTSW	1	173751840	missense	probably benign	0.06
R7985:Ifi204	UTSW	1	173760206	missense	possibly damaging	0.50
R8021:Ifi204	UTSW	1	173759353	intron	probably benign
R8137:Ifi204	UTSW	1	173761622	missense	possibly damaging	0.65
R8141:Ifi204	UTSW	1	173755623	missense	possibly damaging	0.81
R8191:Ifi204	UTSW	1	173751660	missense	possibly damaging	0.71
R8487:Ifi204	UTSW	1	173760273	missense	probably damaging	0.99
R9075:Ifi204	UTSW	1	173761716	missense	possibly damaging	0.95
R9124:Ifi204	UTSW	1	173751627	critical splice donor site	probably null
R9311:Ifi204	UTSW	1	173761649	missense	possibly damaging	0.45
R9498:Ifi204	UTSW	1	173755971	missense	possibly damaging	0.81
R9712:Ifi204	UTSW	1	173749358	missense	probably damaging	0.99
Z1176:Ifi204	UTSW	1	173751628	missense	probably null	0.00

Predicted Primers

PCR Primer
(F):5'- AGCTATCTGTGGACTTCAAGGT -3'
(R):5'- CCCATAGTCATGTCTTTCTTCAGAA -3'

Sequencing Primer
(F):5'- TCTGTGGACTTCAAGGTTAAGAAG -3'
(R):5'- TGAATACATGCACAACATACATATGC -3'

Posted On

2014-10-16