Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01362:Ifit1bl2'

75786

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ifit1bl2

Ensembl Gene

ENSMUSG00000067297

Gene Name

interferon induced protein with tetratricopeptide repeats 1B like 2

Synonyms

2010002M12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01362

Quality Score

Status

Chromosome

Chromosomal Location

34594449-34618143 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34596884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 244 (T244I)

Ref Sequence

ENSEMBL: ENSMUSP00000108082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087357] [ENSMUST00000112463]

AlphaFold

Q3U687

Predicted Effect

probably benign
Transcript: ENSMUST00000087357
AA Change: T244I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: T244I

Domain	Start	End	E-Value	Type
TPR	60	93	2.92e1	SMART
TPR	100	133	6.24e1	SMART
TPR	144	179	4.32e1	SMART
low complexity region	217	230	N/A	INTRINSIC
TPR	249	282	2.24e1	SMART
TPR	334	367	4.55e1	SMART
low complexity region	411	421	N/A	INTRINSIC
TPR	429	462	1.45e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112463
AA Change: T244I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: T244I

Domain	Start	End	E-Value	Type
TPR	60	93	2.92e1	SMART
TPR	100	133	6.24e1	SMART
TPR	144	179	4.32e1	SMART
low complexity region	217	230	N/A	INTRINSIC
TPR	249	282	2.24e1	SMART
TPR	334	367	4.55e1	SMART
low complexity region	411	421	N/A	INTRINSIC
TPR	429	462	1.45e-1	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,261,322 (GRCm39)	D733V	probably benign	Het
Baz2a	G	A	10: 127,957,833 (GRCm39)	G1062D	probably damaging	Het
Bmp8a	C	A	4: 123,207,094 (GRCm39)	R389L	probably damaging	Het
Ccdc148	A	G	2: 58,719,811 (GRCm39)	V488A	probably benign	Het
Cdh24	T	C	14: 54,875,889 (GRCm39)	I227V	probably benign	Het
Dnah6	A	G	6: 73,069,161 (GRCm39)	F2509L	probably damaging	Het
Dusp1	A	G	17: 26,725,618 (GRCm39)	I247T	probably benign	Het
Erich6	G	A	3: 58,529,781 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,178,199 (GRCm39)	T376A	probably benign	Het
Gbp9	T	C	5: 105,228,072 (GRCm39)	E570G	probably damaging	Het
Gm5117	G	T	8: 32,227,947 (GRCm39)		noncoding transcript	Het
Gpr37l1	A	G	1: 135,089,216 (GRCm39)	V283A	probably benign	Het
Heatr5b	A	G	17: 79,123,767 (GRCm39)		probably benign	Het
Mcoln1	T	C	8: 3,557,558 (GRCm39)	V188A	possibly damaging	Het
Mon1a	T	C	9: 107,779,883 (GRCm39)	L484P	probably damaging	Het
Mrgprg	T	A	7: 143,318,806 (GRCm39)	D102V	probably damaging	Het
Mto1	T	A	9: 78,360,056 (GRCm39)	S181R	probably benign	Het
Myh11	C	T	16: 14,095,586 (GRCm39)	V59I	probably benign	Het
Myo7a	G	A	7: 97,746,909 (GRCm39)	T163I	probably damaging	Het
Nr4a3	A	C	4: 48,051,586 (GRCm39)	Q142H	possibly damaging	Het
Or14c41	A	T	7: 86,234,647 (GRCm39)	T55S	possibly damaging	Het
Or2a14	A	G	6: 43,130,569 (GRCm39)	E110G	probably damaging	Het
Or2y15	A	G	11: 49,351,270 (GRCm39)	I255V	probably benign	Het
Or8b8	A	G	9: 37,809,359 (GRCm39)	I220V	probably benign	Het
Pkd1l2	A	G	8: 117,748,595 (GRCm39)	S1859P	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,378 (GRCm39)	T1967A	probably benign	Het
Plppr3	C	T	10: 79,701,795 (GRCm39)	R349Q	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,443 (GRCm39)		probably null	Het
Prl2c2	C	T	13: 13,176,828 (GRCm39)	C33Y	probably damaging	Het
Prl3d2	T	A	13: 27,306,438 (GRCm39)	L55*	probably null	Het
Ralgapb	C	T	2: 158,277,385 (GRCm39)	R250C	probably damaging	Het
Scamp3	C	T	3: 89,086,441 (GRCm39)	P63S	probably benign	Het
Slc22a6	A	G	19: 8,598,572 (GRCm39)	I210V	possibly damaging	Het
Stard13	T	A	5: 151,113,417 (GRCm39)	H48L	probably benign	Het
Tm6sf2	G	A	8: 70,530,565 (GRCm39)	R215H	probably damaging	Het
Twist2	T	C	1: 91,729,650 (GRCm39)	L101P	probably damaging	Het
Uvrag	A	G	7: 98,537,720 (GRCm39)	S492P	probably benign	Het
Zan	T	C	5: 137,450,712 (GRCm39)	T1622A	unknown	Het
Zswim2	T	A	2: 83,745,690 (GRCm39)	T583S	probably benign	Het

Other mutations in Ifit1bl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Ifit1bl2	APN	19	34,597,319 (GRCm39)	missense	probably benign	0.22
IGL00706:Ifit1bl2	APN	19	34,596,282 (GRCm39)	missense	probably benign	0.09
IGL01322:Ifit1bl2	APN	19	34,596,404 (GRCm39)	missense	probably benign	0.10
IGL03061:Ifit1bl2	APN	19	34,597,124 (GRCm39)	missense	probably benign	0.41
R0039:Ifit1bl2	UTSW	19	34,596,846 (GRCm39)	nonsense	probably null
R1079:Ifit1bl2	UTSW	19	34,596,885 (GRCm39)	missense	probably benign	0.00
R1438:Ifit1bl2	UTSW	19	34,596,569 (GRCm39)	missense	possibly damaging	0.70
R2050:Ifit1bl2	UTSW	19	34,596,870 (GRCm39)	missense	possibly damaging	0.75
R2104:Ifit1bl2	UTSW	19	34,596,920 (GRCm39)	missense	probably benign	0.01
R2228:Ifit1bl2	UTSW	19	34,596,630 (GRCm39)	missense	possibly damaging	0.70
R2229:Ifit1bl2	UTSW	19	34,596,630 (GRCm39)	missense	possibly damaging	0.70
R4468:Ifit1bl2	UTSW	19	34,596,468 (GRCm39)	nonsense	probably null
R4517:Ifit1bl2	UTSW	19	34,607,164 (GRCm39)	start gained	probably benign
R5723:Ifit1bl2	UTSW	19	34,597,458 (GRCm39)	missense	probably benign	0.07
R5935:Ifit1bl2	UTSW	19	34,597,128 (GRCm39)	missense	probably benign	0.04
R6024:Ifit1bl2	UTSW	19	34,597,438 (GRCm39)	missense	probably benign	0.00
R6083:Ifit1bl2	UTSW	19	34,597,217 (GRCm39)	missense	possibly damaging	0.80
R6085:Ifit1bl2	UTSW	19	34,597,217 (GRCm39)	missense	possibly damaging	0.80
R6280:Ifit1bl2	UTSW	19	34,597,534 (GRCm39)	missense	possibly damaging	0.70
R6368:Ifit1bl2	UTSW	19	34,596,525 (GRCm39)	missense	probably benign	0.00
R6905:Ifit1bl2	UTSW	19	34,596,990 (GRCm39)	missense	possibly damaging	0.90
R7048:Ifit1bl2	UTSW	19	34,596,551 (GRCm39)	missense	probably benign	0.04
R7355:Ifit1bl2	UTSW	19	34,597,061 (GRCm39)	missense	probably damaging	1.00
R7447:Ifit1bl2	UTSW	19	34,596,974 (GRCm39)	missense	probably damaging	1.00
R7661:Ifit1bl2	UTSW	19	34,596,428 (GRCm39)	missense	probably damaging	0.99
R9500:Ifit1bl2	UTSW	19	34,596,508 (GRCm39)	nonsense	probably null

Posted On

2013-10-07