Mutagenetix > Incidental Mutation

Incidental Mutation 'R5965:Iffo1'

472019

Institutional Source

Beutler Lab

Gene Symbol

Iffo1

Ensembl Gene

ENSMUSG00000038271

Gene Name

intermediate filament family orphan 1

Synonyms

4733401N06Rik, Iffo, A930037G23Rik

MMRRC Submission

044150-MU

Accession Numbers

Essential gene?

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

Stock #

R5965 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125122204-125138745 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 125129471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

Q8BXL9

Predicted Effect

probably benign
Transcript: ENSMUST00000117675

SMART Domains

Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271

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 benign
Transcript: ENSMUST00000119527

SMART Domains

Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271

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

probably benign
Transcript: ENSMUST00000144364

SMART Domains

Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271

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

probably benign
Transcript: ENSMUST00000148835

SMART Domains

Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271

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: ENSMUST00000153006

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150474

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

98% (80/82)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	A	5: 30,410,637 (GRCm39)	T23S	probably benign	Het
Armc2	A	G	10: 41,798,568 (GRCm39)	I747T	possibly damaging	Het
Cacna1c	T	A	6: 118,579,261 (GRCm39)	H1729L	probably damaging	Het
Crebbp	A	G	16: 3,905,525 (GRCm39)		probably benign	Het
Cyp4f17	T	A	17: 32,743,611 (GRCm39)	M326K	probably damaging	Het
Dchs1	T	G	7: 105,405,132 (GRCm39)	D2470A	probably damaging	Het
Ddhd2	T	C	8: 26,225,804 (GRCm39)	T518A	probably damaging	Het
Derl2	T	C	11: 70,905,378 (GRCm39)	T109A	probably benign	Het
Dnah7b	T	C	1: 46,402,147 (GRCm39)	L3994P	probably damaging	Het
Dock10	T	C	1: 80,546,461 (GRCm39)		probably null	Het
Dync1h1	T	A	12: 110,599,212 (GRCm39)	S1856T	probably benign	Het
Ehd2	T	C	7: 15,685,999 (GRCm39)	K358E	possibly damaging	Het
Enpp2	A	G	15: 54,746,367 (GRCm39)		probably null	Het
Esco1	T	C	18: 10,593,867 (GRCm39)	E473G	possibly damaging	Het
Exoc5	A	G	14: 49,272,388 (GRCm39)	F342S	probably damaging	Het
Fam186a	T	A	15: 99,842,978 (GRCm39)	T1089S	probably benign	Het
Fanca	T	C	8: 124,043,149 (GRCm39)	D79G	possibly damaging	Het
Gabrb2	A	G	11: 42,517,696 (GRCm39)	Y506C	probably damaging	Het
Galntl6	T	C	8: 58,310,565 (GRCm39)	T379A	probably benign	Het
Garin2	T	A	12: 78,757,080 (GRCm39)	N12K	unknown	Het
Gm34768	A	G	2: 11,913,316 (GRCm39)		noncoding transcript	Het
Gps2	A	G	11: 69,805,620 (GRCm39)	E46G	possibly damaging	Het
Gsdmc	T	C	15: 63,676,447 (GRCm39)		probably null	Het
Gys1	C	T	7: 45,104,763 (GRCm39)	T666I	probably benign	Het
Hsd17b11	T	A	5: 104,169,651 (GRCm39)		probably benign	Het
Ighv1-51	T	C	12: 115,095,177 (GRCm39)		noncoding transcript	Het
Kansl3	T	A	1: 36,384,601 (GRCm39)		probably null	Het
Kdm3a	A	G	6: 71,598,364 (GRCm39)	I174T	probably benign	Het
Klhl26	A	T	8: 70,905,381 (GRCm39)	D95E	probably damaging	Het
Lair1	T	C	7: 4,032,023 (GRCm39)	D28G	possibly damaging	Het
Lama3	A	G	18: 12,562,944 (GRCm39)	D489G	possibly damaging	Het
Lamb3	A	T	1: 193,025,768 (GRCm39)	I1153F	probably damaging	Het
Lsp1	T	A	7: 142,044,161 (GRCm39)		probably null	Het
Man1a	A	G	10: 53,809,586 (GRCm39)		probably benign	Het
Mcam	A	C	9: 44,047,925 (GRCm39)	S57R	probably damaging	Het
Mrgprf	C	A	7: 144,861,168 (GRCm39)		probably benign	Het
Nfia	T	C	4: 97,999,529 (GRCm39)	*499Q	probably null	Het
Nmbr	C	A	10: 14,642,554 (GRCm39)	R38S	probably benign	Het
Or12e7	T	G	2: 87,288,381 (GRCm39)	F291V	probably benign	Het
Or51a25	C	A	7: 102,373,467 (GRCm39)	V77L	probably benign	Het
Or5h23	T	C	16: 58,906,666 (GRCm39)	Y60C	probably damaging	Het
P3h1	C	T	4: 119,105,424 (GRCm39)	H741Y	probably benign	Het
Parp4	A	T	14: 56,861,489 (GRCm39)	M941L	probably benign	Het
Phaf1	T	C	8: 105,961,171 (GRCm39)	F69L	probably damaging	Het
Pik3c3	C	T	18: 30,431,633 (GRCm39)	T331M	probably damaging	Het
Prkg1	T	C	19: 30,701,556 (GRCm39)		probably null	Het
Qsox2	A	T	2: 26,112,233 (GRCm39)	V103D	probably benign	Het
Ranbp1	T	C	16: 18,063,092 (GRCm39)	T95A	probably damaging	Het
Ric1	G	A	19: 29,548,171 (GRCm39)	D280N	probably damaging	Het
Scd1	A	G	19: 44,388,579 (GRCm39)		probably null	Het
Serpinb3c	A	G	1: 107,204,653 (GRCm39)	I31T	probably benign	Het
Slc7a11	T	A	3: 50,333,593 (GRCm39)	Y386F	probably benign	Het
Smtnl2	A	T	11: 72,291,279 (GRCm39)		probably null	Het
Snx2	G	T	18: 53,327,534 (GRCm39)	E87*	probably null	Het
Tars2	A	C	3: 95,655,464 (GRCm39)		probably null	Het
Tax1bp1	C	A	6: 52,706,317 (GRCm39)	T106N	probably damaging	Het
Tcof1	A	G	18: 60,966,490 (GRCm39)		probably null	Het
Tenm3	C	A	8: 48,681,543 (GRCm39)	E2680*	probably null	Het
Thap7	C	T	16: 17,348,611 (GRCm39)		probably benign	Het
Thoc6	T	A	17: 23,889,842 (GRCm39)	I23F	possibly damaging	Het
Tmem185b	T	G	1: 119,454,294 (GRCm39)	Y18*	probably null	Het
Trav6-1	A	C	14: 52,876,254 (GRCm39)	Y58S	probably damaging	Het
Trbv16	A	T	6: 41,128,989 (GRCm39)	I58F	probably benign	Het
Ubtfl1	T	A	9: 18,320,838 (GRCm39)	M122K	probably benign	Het
Vps13a	T	C	19: 16,596,392 (GRCm39)		probably null	Het
Zdhhc24	T	G	19: 4,933,778 (GRCm39)	D278E	probably benign	Het
Zfp316	T	C	5: 143,250,427 (GRCm39)		probably null	Het
Zfyve9	T	C	4: 108,548,878 (GRCm39)	T769A	possibly damaging	Het
Znhit6	T	A	3: 145,284,103 (GRCm39)	N96K	possibly damaging	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
IGL01964:Iffo1	APN	6	125,128,364 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TCTGGCCCTTGTTAAACACAG -3'
(R):5'- ACTATAGGAACTCCGGCCTC -3'

Sequencing Primer
(F):5'- GCCCTTGTTAAACACAGCATCCTG -3'
(R):5'- ATGGAGCTGCAGGACTCAC -3'

Posted On

2017-03-31