Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01964:Iffo1'

181513

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Iffo1

Ensembl Gene

ENSMUSG00000038271

Gene Name

intermediate filament family orphan 1

Synonyms

4733401N06Rik, Iffo, A930037G23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01964

Quality Score

Status

Chromosome

Chromosomal Location

125122204-125138745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125128364 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 316 (D316G)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000117675] [ENSMUST00000119527] [ENSMUST00000144364]

AlphaFold

Q8BXL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000051171
AA Change: D316G

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

SMART Domains

Protein: ENSMUSP00000056373
Gene: ENSMUSG00000038271
AA Change: D316G

Domain	Start	End	E-Value	Type
low complexity region	18	30	N/A	INTRINSIC
low complexity region	33	66	N/A	INTRINSIC
Filament	72	529	4.84e-6	SMART
low complexity region	537	560	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117675
AA Change: D316G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271
AA Change: D316G

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	362	375	N/A	INTRINSIC
low complexity region	381	392	N/A	INTRINSIC
PDB:1GK4\|F	393	459	6e-7	PDB
low complexity region	474	497	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119527
AA Change: D316G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271
AA Change: D316G

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC
low complexity region	359	372	N/A	INTRINSIC
low complexity region	378	389	N/A	INTRINSIC
PDB:1GK4\|F	390	456	6e-7	PDB
low complexity region	471	494	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135559

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141230

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144364
AA Change: D316G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271
AA Change: D316G

Domain	Start	End	E-Value	Type
coiled coil region	21	58	N/A	INTRINSIC
low complexity region	105	126	N/A	INTRINSIC
coiled coil region	190	242	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148835
AA Change: D134G

SMART Domains

Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271
AA Change: D134G

Domain	Start	End	E-Value	Type
Filament	34	348	4.99e-2	SMART
low complexity region	356	379	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150417

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150474

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153006

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the intermediate filament family. Intermediate filaments are proteins which are primordial components of the cytoskeleton and nuclear envelope. The proteins encoded by the members of this gene family are evolutionarily and structurally related but have limited sequence homology, with the exception of the central rod domain. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	C	8: 44,079,798 (GRCm39)	I142S	probably benign	Het
Aknad1	T	C	3: 108,685,593 (GRCm39)	V579A	probably benign	Het
Ankrd11	A	G	8: 123,616,475 (GRCm39)	I2438T	probably damaging	Het
Cdh11	A	G	8: 103,391,375 (GRCm39)	V287A	probably benign	Het
Cdyl2	G	A	8: 117,350,768 (GRCm39)	S121L	probably benign	Het
Cyp2e1	A	T	7: 140,343,779 (GRCm39)	I6F	probably damaging	Het
Cyp3a16	A	T	5: 145,392,372 (GRCm39)	D194E	probably benign	Het
Eapp	G	T	12: 54,732,720 (GRCm39)	P126Q	probably damaging	Het
Efr3b	A	T	12: 4,032,928 (GRCm39)	L143Q	probably damaging	Het
Grin2c	C	T	11: 115,144,673 (GRCm39)	E618K	probably damaging	Het
Haus3	A	T	5: 34,323,405 (GRCm39)	Y402N	probably benign	Het
Kctd19	A	T	8: 106,115,157 (GRCm39)	M468K	probably damaging	Het
Kdm4b	T	A	17: 56,696,256 (GRCm39)		probably null	Het
Naip6	T	A	13: 100,435,238 (GRCm39)		probably benign	Het
Or5k15	A	T	16: 58,709,827 (GRCm39)	I252K	probably damaging	Het
Polr3c	T	C	3: 96,619,291 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,938,036 (GRCm39)	E60V	probably damaging	Het
Rnd2	T	C	11: 101,361,632 (GRCm39)		probably null	Het
Rufy3	A	G	5: 88,762,929 (GRCm39)	Q153R	probably damaging	Het
Shank1	T	A	7: 43,975,102 (GRCm39)	I399N	unknown	Het
Sin3a	T	C	9: 57,014,631 (GRCm39)		probably benign	Het
Sppl2b	T	A	10: 80,701,220 (GRCm39)		probably null	Het
Srgap1	G	A	10: 121,640,871 (GRCm39)	P665L	possibly damaging	Het
Srgap2	G	T	1: 131,217,316 (GRCm39)	Q999K	probably benign	Het
Tbxas1	G	A	6: 39,060,748 (GRCm39)	V496I	probably benign	Het
Vmn1r198	A	G	13: 22,538,576 (GRCm39)	M21V	probably benign	Het
Wdr90	T	C	17: 26,067,383 (GRCm39)	I1479V	probably benign	Het

Other mutations in Iffo1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00535:Iffo1	APN	6	125,137,516 (GRCm39)	missense	probably damaging	0.98
IGL02208:Iffo1	APN	6	125,122,329 (GRCm39)	missense	possibly damaging	0.90
PIT4418001:Iffo1	UTSW	6	125,126,746 (GRCm39)	missense	possibly damaging	0.66
R0400:Iffo1	UTSW	6	125,130,434 (GRCm39)	missense	probably damaging	1.00
R0907:Iffo1	UTSW	6	125,130,124 (GRCm39)	missense	probably null	1.00
R1456:Iffo1	UTSW	6	125,122,877 (GRCm39)	missense	possibly damaging	0.91
R3979:Iffo1	UTSW	6	125,137,552 (GRCm39)	unclassified	probably benign
R5240:Iffo1	UTSW	6	125,129,423 (GRCm39)	missense	probably benign
R5654:Iffo1	UTSW	6	125,130,030 (GRCm39)	missense	probably damaging	0.99
R5965:Iffo1	UTSW	6	125,129,471 (GRCm39)	intron	probably benign
R8111:Iffo1	UTSW	6	125,122,781 (GRCm39)	missense	possibly damaging	0.79
R9776:Iffo1	UTSW	6	125,130,436 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07