Mutagenetix > Incidental Mutation

Incidental Mutation 'R6590:Iqcf6'

524698

Institutional Source

Beutler Lab

Gene Symbol

Iqcf6

Ensembl Gene

ENSMUSG00000091129

Gene Name

IQ motif containing F6

Synonyms

100041096

MMRRC Submission

044714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R6590 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106503800-106504874 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106504501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 55 (T55I)

Ref Sequence

ENSEMBL: ENSMUSP00000131823 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171091]

AlphaFold

G3UWF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171091
AA Change: T55I

PolyPhen 2 Score 0.826 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131823
Gene: ENSMUSG00000091129
AA Change: T55I

Domain	Start	End	E-Value	Type
IQ	35	57	2.06e-3	SMART
IQ	91	113	8.13e-2	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

100% (28/28)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,115,062 (GRCm39)	G628D	probably damaging	Het
Ahnak	G	T	19: 8,986,945 (GRCm39)	G2743V	probably benign	Het
Akr1c14	A	T	13: 4,113,713 (GRCm39)	T82S	possibly damaging	Het
Ccdc7b	A	G	8: 129,904,700 (GRCm39)	T113A	probably benign	Het
Cep152	A	T	2: 125,406,290 (GRCm39)	L1414Q	probably damaging	Het
Chd8	T	C	14: 52,464,694 (GRCm39)	E658G	possibly damaging	Het
Clca3a1	G	C	3: 144,719,644 (GRCm39)	A442G	probably damaging	Het
Coro6	A	G	11: 77,356,606 (GRCm39)	T105A	probably benign	Het
Cux1	A	G	5: 136,368,971 (GRCm39)	I232T	probably damaging	Het
Dmrt1	A	G	19: 25,523,449 (GRCm39)	T267A	probably benign	Het
Fam149a	G	T	8: 45,802,071 (GRCm39)	A387E	probably damaging	Het
Fat4	G	A	3: 39,037,688 (GRCm39)	G3780D	probably damaging	Het
Igf2r	A	T	17: 12,910,824 (GRCm39)	L1998*	probably null	Het
Mterf3	G	A	13: 67,065,110 (GRCm39)	L264F	probably damaging	Het
Or10k2	G	T	8: 84,267,904 (GRCm39)	V44L	probably benign	Het
Or8g32	A	G	9: 39,305,845 (GRCm39)	I253V	probably benign	Het
Pcdhgb7	A	T	18: 37,886,050 (GRCm39)	I407F	probably benign	Het
Pip4k2b	T	C	11: 97,620,393 (GRCm39)	D114G	probably damaging	Het
Plbd1	G	T	6: 136,612,598 (GRCm39)	N198K	probably damaging	Het
Prkcb	T	C	7: 121,888,737 (GRCm39)	I57T	probably damaging	Het
Ralgapa1	C	T	12: 55,769,558 (GRCm39)		probably null	Het
Slc26a8	A	G	17: 28,863,629 (GRCm39)	I710T	possibly damaging	Het
Smc2	A	T	4: 52,449,375 (GRCm39)	I179L	probably benign	Het
Tmub2	C	T	11: 102,178,345 (GRCm39)	H83Y	probably damaging	Het
Trip11	C	A	12: 101,851,710 (GRCm39)	D785Y	possibly damaging	Het
Vill	A	G	9: 118,890,975 (GRCm39)	T194A	probably benign	Het
Vmn2r59	T	C	7: 41,695,890 (GRCm39)	D174G	probably damaging	Het

Other mutations in Iqcf6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01598:Iqcf6	APN	9	106,504,707 (GRCm39)	missense	probably benign
IGL02006:Iqcf6	APN	9	106,504,510 (GRCm39)	missense	probably benign	0.13
IGL02519:Iqcf6	APN	9	106,504,479 (GRCm39)	missense	probably damaging	1.00
R0925:Iqcf6	UTSW	9	106,504,500 (GRCm39)	missense	probably benign	0.00
R1493:Iqcf6	UTSW	9	106,504,641 (GRCm39)	missense	probably benign	0.00
R4686:Iqcf6	UTSW	9	106,504,543 (GRCm39)	missense	probably damaging	1.00
R6690:Iqcf6	UTSW	9	106,504,501 (GRCm39)	missense	possibly damaging	0.83
R7489:Iqcf6	UTSW	9	106,504,656 (GRCm39)	missense	probably benign	0.25
R8847:Iqcf6	UTSW	9	106,504,650 (GRCm39)	missense	probably damaging	1.00
R8867:Iqcf6	UTSW	9	106,504,698 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- ACAAGAGGTCAGGACAGCCC -3'
(R):5'- CCTTGGCTTTGGCTAGCATG -3'

Sequencing Primer
(F):5'- TCAGGACAGCCCAGGACAG -3'
(R):5'- AGTCTGGATAATGCAGGCTGC -3'

Posted On

2018-06-22