Mutagenetix > Incidental Mutation

Incidental Mutation 'R6352:Iqcf5'

513291

Institutional Source

Beutler Lab

Gene Symbol

Iqcf5

Ensembl Gene

ENSMUSG00000066382

Gene Name

IQ motif containing F5

Synonyms

1700007L12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R6352 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106514573-106516010 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106515730 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 62 (E62G)

Ref Sequence

ENSEMBL: ENSMUSP00000082194 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085113]

AlphaFold

Q9DAL7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085113
AA Change: E62G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000082194
Gene: ENSMUSG00000066382
AA Change: E62G

Domain	Start	End	E-Value	Type
IQ	10	32	8.38e-4	SMART
IQ	66	88	9.85e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189866

Meta Mutation Damage Score

0.3093

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,037,136	S120G	probably benign	Het
Abca13	G	A	11: 9,309,139		probably null	Het
Aco1	G	A	4: 40,186,367	R593Q	probably benign	Het
Adgra3	T	A	5: 49,979,136	D669V	probably benign	Het
Adgra3	T	A	5: 49,990,250	M483L	probably benign	Het
BC005561	A	G	5: 104,520,198	E862G	probably benign	Het
Ccdc42	T	C	11: 68,594,365	V88A	probably damaging	Het
Cdh16	G	C	8: 104,616,992	S624C	probably damaging	Het
Cpt1c	A	T	7: 44,966,795		probably null	Het
Cul9	T	C	17: 46,511,315	T1795A	probably benign	Het
Dnah2	C	T	11: 69,448,227	V3098I	probably damaging	Het
Fam126b	A	G	1: 58,557,312	V38A	probably damaging	Het
Fbxl16	T	C	17: 25,818,945	L426P	probably damaging	Het
Flt4	T	C	11: 49,643,506	I1168T	probably benign	Het
Fmo5	T	C	3: 97,645,675	V313A	probably benign	Het
Foxj3	A	G	4: 119,585,778	N133S	probably damaging	Het
Gbp8	T	C	5: 105,015,060	I489M	possibly damaging	Het
Gm10801	TC	TCGAC	2: 98,663,806		probably benign	Het
Hdgfl1	T	G	13: 26,769,750	E113D	probably benign	Het
Heatr5a	A	T	12: 51,951,166	S317T	possibly damaging	Het
Insr	C	T	8: 3,173,479		probably null	Het
Kcnj3	G	A	2: 55,437,549	V117I	probably benign	Het
Klf9	T	A	19: 23,141,774	M7K	probably benign	Het
Mboat1	G	A	13: 30,202,420	G139E	possibly damaging	Het
Mical3	T	C	6: 120,952,473	T1811A	probably damaging	Het
Mllt10	A	C	2: 18,123,793	K117T	probably damaging	Het
Mpped1	A	G	15: 83,836,363	D8G	probably damaging	Het
Myh4	A	T	11: 67,252,282	D1012V	probably damaging	Het
Myo9b	C	A	8: 71,348,410	P1070T	probably benign	Het
Myo9b	C	T	8: 71,348,411	P1071L	probably benign	Het
Nlrp1b	T	A	11: 71,181,701	I439F	probably damaging	Het
Nlrp9a	T	A	7: 26,557,626	I134N	probably damaging	Het
Nop2	C	T	6: 125,137,207	T212M	probably benign	Het
Notch4	T	C	17: 34,567,461	C188R	probably damaging	Het
Olfr1495	A	T	19: 13,768,464	M41L	probably benign	Het
Olfr703	G	T	7: 106,845,222	V204F	probably damaging	Het
Pgd	C	T	4: 149,160,752		probably null	Het
Plet1	T	C	9: 50,501,107	S142P	probably damaging	Het
Ptk7	A	T	17: 46,576,890	W539R	probably benign	Het
Ptprd	A	T	4: 76,091,552		probably null	Het
Rgs22	T	G	15: 36,092,921	Q402P	probably damaging	Het
Rpl10a	T	C	17: 28,330,846	V167A	possibly damaging	Het
Sdr16c5	A	G	4: 4,016,421	S2P	probably benign	Het
Slc14a2	T	C	18: 78,209,094	M1V	probably null	Het
Spta1	T	A	1: 174,211,646	M1185K	possibly damaging	Het
Syde2	G	T	3: 145,998,474	E127*	probably null	Het
Ugt2b38	T	A	5: 87,424,001	R57S	possibly damaging	Het
Wdr11	C	T	7: 129,606,675	L385F	possibly damaging	Het
Wdr74	T	C	19: 8,739,458	V200A	possibly damaging	Het

Other mutations in Iqcf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01819:Iqcf5	APN	9	106515990	makesense	probably null
R7017:Iqcf5	UTSW	9	106515664	missense	possibly damaging	0.90
R7120:Iqcf5	UTSW	9	106515796	missense	probably damaging	1.00
R7988:Iqcf5	UTSW	9	106515821	missense	possibly damaging	0.84
R9660:Iqcf5	UTSW	9	106515969	missense	probably damaging	1.00
R9728:Iqcf5	UTSW	9	106515969	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCTACGGCCATGACAGAAAC -3'
(R):5'- CCACCTTACAAGCCTGTGAG -3'

Sequencing Primer
(F):5'- CAGAAACATCTGCGGCTGTG -3'
(R):5'- TTACAAGCCTGTGAGCCCAG -3'

Posted On

2018-04-27