Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00321:Ifit1bl2'

13244

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

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00321

Quality Score

Status

Chromosome

Chromosomal Location

34617049-34640743 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34619919 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 99 (S99N)

Ref Sequence

ENSEMBL: ENSMUSP00000108082 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087357
AA Change: S99N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: S99N

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: S99N

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: S99N

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	A	G	8: 40,826,746	R725G	possibly damaging	Het
Arid2	A	G	15: 96,289,089	E74G	probably damaging	Het
Carf	T	A	1: 60,124,842		probably benign	Het
Cit	A	T	5: 115,846,465	Q32L	probably damaging	Het
Dennd4b	A	G	3: 90,271,207	T526A	possibly damaging	Het
Dnhd1	A	G	7: 105,677,995	E717G	probably damaging	Het
Ercc6	T	A	14: 32,568,072	I968N	probably damaging	Het
Fcrl1	A	T	3: 87,389,635	Y297F	probably damaging	Het
Gas2l3	A	G	10: 89,413,627	L543P	probably benign	Het
Gm5346	A	G	8: 43,625,381	I602T	probably benign	Het
Hid1	A	T	11: 115,359,069	D84E	probably benign	Het
Kpna3	A	G	14: 61,391,853		probably benign	Het
Myadm	C	A	7: 3,297,223	P167Q	possibly damaging	Het
Ociad1	C	T	5: 73,304,543		probably benign	Het
Olfr224	A	C	11: 58,566,767	Y193D	probably damaging	Het
Pcdh11x	A	T	X: 120,592,568	K1029N	probably benign	Het
Pcdhb11	A	G	18: 37,421,973	T119A	probably benign	Het
Phldb2	T	C	16: 45,772,254	R926G	probably damaging	Het
Ppwd1	A	G	13: 104,217,143	F369S	probably damaging	Het
Rreb1	T	A	13: 37,916,496	M201K	probably benign	Het
Ryr1	A	T	7: 29,102,810	I795N	probably damaging	Het
Slc3a1	T	C	17: 85,060,833	W510R	probably damaging	Het
Slc44a5	T	C	3: 154,262,939	L589P	probably damaging	Het
Tfr2	A	G	5: 137,574,455	D176G	probably null	Het
Tom1	T	A	8: 75,052,174	S24T	probably benign	Het
Vmn2r66	T	A	7: 85,007,091	Q239L	probably benign	Het
Ythdc2	A	G	18: 44,859,973	T149A	probably benign	Het
Zc3h3	A	G	15: 75,779,313	I686T	probably damaging	Het

Other mutations in Ifit1bl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00706:Ifit1bl2	APN	19	34618882	missense	probably benign	0.09
IGL01322:Ifit1bl2	APN	19	34619004	missense	probably benign	0.10
IGL01362:Ifit1bl2	APN	19	34619484	missense	probably benign	0.04
IGL03061:Ifit1bl2	APN	19	34619724	missense	probably benign	0.41
R0039:Ifit1bl2	UTSW	19	34619446	nonsense	probably null
R1079:Ifit1bl2	UTSW	19	34619485	missense	probably benign	0.00
R1438:Ifit1bl2	UTSW	19	34619169	missense	possibly damaging	0.70
R2050:Ifit1bl2	UTSW	19	34619470	missense	possibly damaging	0.75
R2104:Ifit1bl2	UTSW	19	34619520	missense	probably benign	0.01
R2228:Ifit1bl2	UTSW	19	34619230	missense	possibly damaging	0.70
R2229:Ifit1bl2	UTSW	19	34619230	missense	possibly damaging	0.70
R4468:Ifit1bl2	UTSW	19	34619068	nonsense	probably null
R4517:Ifit1bl2	UTSW	19	34629764	start gained	probably benign
R5723:Ifit1bl2	UTSW	19	34620058	missense	probably benign	0.07
R5935:Ifit1bl2	UTSW	19	34619728	missense	probably benign	0.04
R6024:Ifit1bl2	UTSW	19	34620038	missense	probably benign	0.00
R6083:Ifit1bl2	UTSW	19	34619817	missense	possibly damaging	0.80
R6085:Ifit1bl2	UTSW	19	34619817	missense	possibly damaging	0.80
R6280:Ifit1bl2	UTSW	19	34620134	missense	possibly damaging	0.70
R6368:Ifit1bl2	UTSW	19	34619125	missense	probably benign	0.00
R6905:Ifit1bl2	UTSW	19	34619590	missense	possibly damaging	0.90
R7048:Ifit1bl2	UTSW	19	34619151	missense	probably benign	0.04
R7355:Ifit1bl2	UTSW	19	34619661	missense	probably damaging	1.00
R7447:Ifit1bl2	UTSW	19	34619574	missense	probably damaging	1.00
R7661:Ifit1bl2	UTSW	19	34619028	missense	probably damaging	0.99

Posted On

2012-12-06