Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4418001:Iffo1'

555582

Institutional Source

Beutler Lab

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: 0.072) question?

Stock #

PIT4418001 (G1)

Quality Score

204.009

Status

Not validated

Chromosome

Chromosomal Location

125122204-125138745 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 125126746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 293 (K293E)

Ref Sequence

ENSEMBL: ENSMUSP00000113088 (fasta)

Gene Model

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

AlphaFold

Q8BXL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000117675
AA Change: K293E

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113088
Gene: ENSMUSG00000038271
AA Change: K293E

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

possibly damaging
Transcript: ENSMUST00000119527
AA Change: K293E

PolyPhen 2 Score 0.656 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113376
Gene: ENSMUSG00000038271
AA Change: K293E

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

possibly damaging
Transcript: ENSMUST00000144364
AA Change: K293E

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000116701
Gene: ENSMUSG00000038271
AA Change: K293E

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

SMART Domains

Protein: ENSMUSP00000115080
Gene: ENSMUSG00000038271
AA Change: K111E

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

Coding Region Coverage

1x: 93.3%
3x: 90.8%
10x: 84.7%
20x: 71.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	T	C	6: 88,816,630 (GRCm39)	Y100C	possibly damaging	Het
Adamtsl1	T	C	4: 86,161,961 (GRCm39)	Y365H	probably damaging	Het
Atad2b	A	T	12: 5,074,587 (GRCm39)	I1049F	probably benign	Het
Atg9b	A	T	5: 24,590,513 (GRCm39)	S859T	possibly damaging	Het
Banp	G	A	8: 122,732,365 (GRCm39)	A380T	probably damaging	Het
Brinp3	C	T	1: 146,777,161 (GRCm39)	T536I	probably damaging	Het
Cacna1c	T	C	6: 118,631,384 (GRCm39)	E1155G		Het
Capn12	T	C	7: 28,585,961 (GRCm39)	S270P	probably benign	Het
Cbs	A	T	17: 31,834,495 (GRCm39)	I498N	possibly damaging	Het
Cep68	T	C	11: 20,189,731 (GRCm39)	K427R	probably benign	Het
Cobl	G	A	11: 12,206,240 (GRCm39)	T545I	possibly damaging	Het
Cr2	T	A	1: 194,839,760 (GRCm39)	M556L	probably benign	Het
Crebbp	A	G	16: 3,932,689 (GRCm39)	S1068P	probably benign	Het
D2hgdh	C	T	1: 93,766,590 (GRCm39)	H385Y	possibly damaging	Het
Dennd1b	T	C	1: 139,008,999 (GRCm39)	L159P		Het
Dnajb4	A	T	3: 151,899,134 (GRCm39)	F31I	possibly damaging	Het
Dnajc16	A	G	4: 141,498,260 (GRCm39)	F369S	probably damaging	Het
Dtl	A	T	1: 191,273,429 (GRCm39)	L493H	possibly damaging	Het
Efcab5	T	A	11: 77,022,877 (GRCm39)	Q612L	possibly damaging	Het
Efr3b	A	T	12: 4,030,490 (GRCm39)	L407Q	possibly damaging	Het
Ehbp1	T	A	11: 22,003,494 (GRCm39)	Q1085L	probably damaging	Het
Ell	T	C	8: 71,034,331 (GRCm39)	V199A	probably damaging	Het
Elmod2	G	T	8: 84,048,171 (GRCm39)	T97K	probably benign	Het
Epn3	T	C	11: 94,386,956 (GRCm39)	E138G	probably damaging	Het
Esf1	A	T	2: 140,001,697 (GRCm39)	F383L	probably benign	Het
Fam193a	A	T	5: 34,597,879 (GRCm39)	T559S	probably damaging	Het
Galr2	T	C	11: 116,174,084 (GRCm39)	V238A	probably benign	Het
Gm3476	T	C	14: 6,118,411 (GRCm38)	I237M	probably benign	Het
Gm5160	A	T	18: 14,558,339 (GRCm39)	I139F	probably damaging	Het
Gpr15	T	C	16: 58,538,313 (GRCm39)	T259A	probably benign	Het
Ikbip	T	A	10: 90,932,395 (GRCm39)	H346Q	probably benign	Het
Il4ra	G	A	7: 125,175,510 (GRCm39)	G573S	probably benign	Het
Ing2	A	T	8: 48,122,125 (GRCm39)	M141K	probably benign	Het
Itga6	T	C	2: 71,664,414 (GRCm39)	S517P	probably benign	Het
Itprid1	T	G	6: 55,945,330 (GRCm39)	S684A	probably damaging	Het
Kcnab1	A	G	3: 65,265,741 (GRCm39)	E295G	probably benign	Het
Klhl21	A	C	4: 152,099,835 (GRCm39)	Y515S	possibly damaging	Het
Lcn9	A	T	2: 25,714,553 (GRCm39)	Y139F	probably damaging	Het
Mcemp1	G	T	8: 3,717,052 (GRCm39)	L64F	probably null	Het
Mos	T	C	4: 3,870,814 (GRCm39)	D334G	possibly damaging	Het
Myo9b	T	G	8: 71,775,591 (GRCm39)	F338V	probably damaging	Het
Nefl	G	A	14: 68,323,979 (GRCm39)	V406M	probably damaging	Het
Nfam1	C	A	15: 82,885,689 (GRCm39)	R181L	probably damaging	Het
Ntn5	A	G	7: 45,335,925 (GRCm39)	R119G	probably damaging	Het
Or12e10	G	T	2: 87,640,938 (GRCm39)	C258F	probably damaging	Het
Or5b101	A	T	19: 13,005,095 (GRCm39)	Y199*	probably null	Het
Or7a40	T	C	16: 16,491,719 (GRCm39)	N42S	probably damaging	Het
Plch2	A	T	4: 155,073,960 (GRCm39)	V914E	probably damaging	Het
Ppp1r12c	T	C	7: 4,504,266 (GRCm39)	Q111R	probably null	Het
Ptchd3	T	A	11: 121,732,566 (GRCm39)	Y485*	probably null	Het
Ptchd4	T	A	17: 42,813,980 (GRCm39)	I627N	probably damaging	Het
Retnlb	T	C	16: 48,637,631 (GRCm39)	V19A	probably benign	Het
Rimbp2	T	A	5: 128,857,425 (GRCm39)	T809S	probably benign	Het
Sema6c	T	A	3: 95,077,401 (GRCm39)	D404E	possibly damaging	Het
Slc22a16	C	T	10: 40,479,821 (GRCm39)	A631V	unknown	Het
Snai3	A	T	8: 123,183,073 (GRCm39)	H157Q	probably benign	Het
Snx15	T	C	19: 6,173,961 (GRCm39)	Y52C	probably damaging	Het
Strbp	T	C	2: 37,535,504 (GRCm39)	E68G	probably benign	Het
Sun1	T	A	5: 139,212,343 (GRCm39)	D155E	probably damaging	Het
Susd2	T	C	10: 75,474,183 (GRCm39)	D627G	probably benign	Het
Tas2r108	T	A	6: 40,470,614 (GRCm39)	I30K	probably damaging	Het
Tmc2	T	C	2: 130,090,571 (GRCm39)	V639A	probably damaging	Het
Trmt1	T	C	8: 85,424,299 (GRCm39)	Y445H	probably damaging	Het
Ttn	A	T	2: 76,597,554 (GRCm39)	N19786K	probably damaging	Het
Vmn1r79	T	G	7: 11,910,766 (GRCm39)	V216G	probably damaging	Het
Wdr64	C	A	1: 175,571,160 (GRCm39)	Y331*	probably null	Het
Zfyve28	A	T	5: 34,390,721 (GRCm39)	V180E	probably damaging	Het
Zic4	C	T	9: 91,261,447 (GRCm39)	T234I	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
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

Predicted Primers

PCR Primer
(F):5'- TTCCCAATGTCTGTCAGGTG -3'
(R):5'- CGCTAATGGCTTGGACCAAC -3'

Sequencing Primer
(F):5'- TACACGGTTCGGATACAGCTAC -3'
(R):5'- TGGACCAACCATGAGGCTG -3'

Posted On

2019-06-07