Mutagenetix > Incidental Mutation

Incidental Mutation 'R5823:Iqcf4'

450040

Institutional Source

Beutler Lab

Gene Symbol

Iqcf4

Ensembl Gene

ENSMUSG00000041009

Gene Name

IQ motif containing F4

Synonyms

1700042N06Rik

MMRRC Submission

043215-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R5823 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106445518-106448166 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 106445800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 116 (I116V)

Ref Sequence

ENSEMBL: ENSMUSP00000082192 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085111]

AlphaFold

Q6P8Y2

Predicted Effect

probably benign
Transcript: ENSMUST00000085111
AA Change: I116V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000082192
Gene: ENSMUSG00000041009
AA Change: I116V

Domain	Start	End	E-Value	Type
coiled coil region	14	41	N/A	INTRINSIC
IQ	66	88	2.72e-3	SMART
IQ	89	111	2.32e2	SMART
IQ	122	144	9.33e-2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Acsl3	G	T	1: 78,666,003 (GRCm39)	R143L	probably benign	Het
Ankrd11	A	T	8: 123,622,529 (GRCm39)	I420K	probably benign	Het
Aoc1l2	T	A	6: 48,907,486 (GRCm39)	I162N	probably damaging	Het
Cwh43	A	G	5: 73,569,213 (GRCm39)	E85G	probably benign	Het
Dnah1	G	T	14: 30,988,375 (GRCm39)	F3442L	possibly damaging	Het
Dock6	T	A	9: 21,716,124 (GRCm39)	N1737I	probably damaging	Het
Fcf1	A	G	12: 85,020,921 (GRCm39)	Y55C	possibly damaging	Het
Fer1l6	T	A	15: 58,462,352 (GRCm39)	Y802*	probably null	Het
Fgf9	T	G	14: 58,320,759 (GRCm39)	S10A	probably damaging	Het
Fhad1	A	G	4: 141,682,617 (GRCm39)	I508T	possibly damaging	Het
Flnc	T	C	6: 29,461,201 (GRCm39)	V2692A	probably damaging	Het
Gm38119	G	T	3: 92,645,380 (GRCm39)	H71Q	unknown	Het
Hcn1	A	T	13: 117,739,388 (GRCm39)	H50L	unknown	Het
Helz2	T	C	2: 180,878,189 (GRCm39)	T870A	possibly damaging	Het
Lama5	T	A	2: 179,834,285 (GRCm39)	I1383F	probably benign	Het
Lmo2	C	T	2: 103,811,417 (GRCm39)	T150I	probably damaging	Het
Mgat4f	T	A	1: 134,318,655 (GRCm39)	W476R	probably damaging	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Mylk	T	A	16: 34,715,317 (GRCm39)		probably null	Het
Nat10	A	T	2: 103,560,612 (GRCm39)	V731D	probably damaging	Het
Ncapd2	A	G	6: 125,145,663 (GRCm39)	V1328A	probably benign	Het
Nfu1	C	A	6: 87,002,541 (GRCm39)	Q207K	probably damaging	Het
Nipsnap2	T	A	5: 129,816,833 (GRCm39)		probably null	Het
Npc1	T	C	18: 12,324,846 (GRCm39)	K1216E	possibly damaging	Het
Or2r3	C	A	6: 42,448,906 (GRCm39)	V69L	probably benign	Het
Phf3	T	C	1: 30,843,764 (GRCm39)	I1732V	probably damaging	Het
Rasgrp4	G	T	7: 28,837,142 (GRCm39)	R67L	probably benign	Het
Rubcn	T	C	16: 32,670,091 (GRCm39)	D88G	probably damaging	Het
Slc30a2	T	C	4: 134,073,289 (GRCm39)	I112T	probably damaging	Het
Slc35d2	A	G	13: 64,268,419 (GRCm39)	I78T	probably damaging	Het
Slc9a4	T	A	1: 40,658,277 (GRCm39)	M600K	probably damaging	Het
Slfn8	A	G	11: 82,907,562 (GRCm39)	I327T	probably benign	Het
Tas2r118	A	G	6: 23,969,470 (GRCm39)	I197T	probably benign	Het
Tex15	A	G	8: 34,060,962 (GRCm39)	I405V	possibly damaging	Het
Thsd7b	T	C	1: 129,605,821 (GRCm39)	S521P	probably benign	Het
Trim36	A	G	18: 46,302,407 (GRCm39)	L535P	probably damaging	Het
Trim63	A	T	4: 134,043,842 (GRCm39)	I102F	probably damaging	Het
Wdr47	G	A	3: 108,550,401 (GRCm39)	V809M	probably damaging	Het

Other mutations in Iqcf4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01329:Iqcf4	APN	9	106,447,832 (GRCm39)	missense	probably benign	0.12
R0781:Iqcf4	UTSW	9	106,445,860 (GRCm39)	missense	probably benign	0.06
R1764:Iqcf4	UTSW	9	106,445,893 (GRCm39)	missense	probably benign	0.12
R4525:Iqcf4	UTSW	9	106,447,827 (GRCm39)	missense	possibly damaging	0.51
R4703:Iqcf4	UTSW	9	106,445,519 (GRCm39)	splice site	probably null
R6298:Iqcf4	UTSW	9	106,445,874 (GRCm39)	missense	probably benign	0.25
R7773:Iqcf4	UTSW	9	106,445,812 (GRCm39)	missense	probably benign	0.08
R7780:Iqcf4	UTSW	9	106,445,860 (GRCm39)	missense	possibly damaging	0.93
R7818:Iqcf4	UTSW	9	106,447,738 (GRCm39)	nonsense	probably null
R8694:Iqcf4	UTSW	9	106,448,111 (GRCm39)	start gained	probably benign
R9435:Iqcf4	UTSW	9	106,445,652 (GRCm39)	missense	possibly damaging	0.95
RF003:Iqcf4	UTSW	9	106,447,806 (GRCm39)	small insertion	probably benign
RF007:Iqcf4	UTSW	9	106,447,808 (GRCm39)	small insertion	probably benign
RF016:Iqcf4	UTSW	9	106,447,808 (GRCm39)	small insertion	probably benign
RF028:Iqcf4	UTSW	9	106,447,813 (GRCm39)	small insertion	probably benign
RF031:Iqcf4	UTSW	9	106,447,814 (GRCm39)	small insertion	probably benign
RF036:Iqcf4	UTSW	9	106,447,810 (GRCm39)	small insertion	probably benign
RF041:Iqcf4	UTSW	9	106,447,812 (GRCm39)	nonsense	probably null
RF042:Iqcf4	UTSW	9	106,447,804 (GRCm39)	small insertion	probably benign
RF043:Iqcf4	UTSW	9	106,447,812 (GRCm39)	small insertion	probably benign
RF045:Iqcf4	UTSW	9	106,447,809 (GRCm39)	small insertion	probably benign
RF046:Iqcf4	UTSW	9	106,447,809 (GRCm39)	small insertion	probably benign
RF047:Iqcf4	UTSW	9	106,447,811 (GRCm39)	small insertion	probably benign
RF063:Iqcf4	UTSW	9	106,447,816 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAAGTTCATAGCTGCCCTGG -3'
(R):5'- TGTGGCTGTACCCCTGAAAAC -3'

Sequencing Primer
(F):5'- GTTCATAGCTGCCCTGGAAAAAGC -3'
(R):5'- GTGGCTGTACCCCTGAAAACTAAAAC -3'

Posted On

2016-12-20