Mutagenetix > Incidental Mutation

Incidental Mutation 'R6556:Iqcd'

522152

Institutional Source

Beutler Lab

Gene Symbol

Iqcd

Ensembl Gene

ENSMUSG00000029601

Gene Name

IQ motif containing D

Synonyms

4933433C09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R6556 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

120727081-120745183 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120740443 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 258 (V258A)

Ref Sequence

ENSEMBL: ENSMUSP00000091955 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069259] [ENSMUST00000094391] [ENSMUST00000111884] [ENSMUST00000156356]

AlphaFold

Q9D3V1

Predicted Effect

probably damaging
Transcript: ENSMUST00000069259
AA Change: V258A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000069167
Gene: ENSMUSG00000029601
AA Change: V258A

Domain	Start	End	E-Value	Type
coiled coil region	97	137	N/A	INTRINSIC
coiled coil region	209	257	N/A	INTRINSIC
coiled coil region	298	348	N/A	INTRINSIC
IQ	363	385	5.53e-4	SMART
low complexity region	387	425	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000094391
AA Change: V258A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091955
Gene: ENSMUSG00000029601
AA Change: V258A

Domain	Start	End	E-Value	Type
coiled coil region	97	137	N/A	INTRINSIC
coiled coil region	209	257	N/A	INTRINSIC
coiled coil region	331	381	N/A	INTRINSIC
IQ	396	418	5.53e-4	SMART
low complexity region	420	458	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111884

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136070

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147596

Predicted Effect

probably benign
Transcript: ENSMUST00000156356

SMART Domains

Protein: ENSMUSP00000122910
Gene: ENSMUSG00000029600

Domain	Start	End	E-Value	Type
low complexity region	81	91	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atosb	C	T	4: 43,033,896 (GRCm39)	R460H	probably damaging	Het
Atp2a1	G	T	7: 126,049,434 (GRCm39)	P536Q	probably benign	Het
Bnip5	T	A	17: 29,123,585 (GRCm39)	D114V	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Camkk1	A	T	11: 72,924,696 (GRCm39)	N303I	probably benign	Het
Cdh13	C	T	8: 119,694,926 (GRCm39)	P259S	probably damaging	Het
Csnk1g3	A	G	18: 54,063,354 (GRCm39)	D255G	possibly damaging	Het
Dennd5b	A	C	6: 148,915,749 (GRCm39)		probably null	Het
Dnajc14	A	G	10: 128,650,500 (GRCm39)	D528G	probably benign	Het
Edem1	T	C	6: 108,831,318 (GRCm39)	F593S	probably benign	Het
Efcab3	A	G	11: 104,899,077 (GRCm39)	N4343S	probably null	Het
Erbb2	G	A	11: 98,326,908 (GRCm39)	D1106N	possibly damaging	Het
Ermp1	T	C	19: 29,590,321 (GRCm39)	M794V	possibly damaging	Het
Fip1l1	T	A	5: 74,707,838 (GRCm39)		probably null	Het
Gm20730	C	T	6: 43,058,476 (GRCm39)	C112Y	probably damaging	Het
Gtf2h1	T	A	7: 46,458,089 (GRCm39)	C245S	probably damaging	Het
Hdhd5	T	C	6: 120,500,515 (GRCm39)	H61R	probably benign	Het
Ighv1-71	A	T	12: 115,706,092 (GRCm39)	V31E	probably damaging	Het
Igsf9b	T	C	9: 27,240,851 (GRCm39)	F688S	probably damaging	Het
Kcnc2	G	C	10: 112,107,761 (GRCm39)	G51R	probably benign	Het
Lpo	G	T	11: 87,708,589 (GRCm39)	Y136*	probably null	Het
Med30	A	G	15: 52,593,779 (GRCm39)		probably benign	Het
Mertk	T	A	2: 128,618,341 (GRCm39)	V524D	probably benign	Het
Ndufb11b	A	G	15: 81,864,939 (GRCm39)	D60G	probably damaging	Het
Or4c126	T	A	2: 89,824,517 (GRCm39)	F260Y	probably benign	Het
Or4c52	T	C	2: 89,845,438 (GRCm39)	Y55H	probably damaging	Het
Or5l13	T	C	2: 87,780,320 (GRCm39)	I86V	probably benign	Het
Pde6b	T	A	5: 108,569,367 (GRCm39)	M358K	possibly damaging	Het
Prep	GA	G	10: 45,034,410 (GRCm39)		probably null	Het
Prpf4b	G	A	13: 35,080,015 (GRCm39)	R793Q	probably damaging	Het
Rela	T	A	19: 5,697,366 (GRCm39)	N524K	probably damaging	Het
Relch	T	A	1: 105,654,165 (GRCm39)	F845I	probably damaging	Het
Rnaset2a	T	C	17: 8,360,480 (GRCm39)	D74G	probably damaging	Het
Semp2l2a	G	A	8: 13,887,690 (GRCm39)	Q134*	probably null	Het
Serinc2	T	A	4: 130,152,064 (GRCm39)	I267F	probably damaging	Het
Sesn3	T	C	9: 14,232,549 (GRCm39)	F274S	possibly damaging	Het
Spag1	T	C	15: 36,195,553 (GRCm39)	Y249H	probably damaging	Het
Sstr1	A	T	12: 58,260,478 (GRCm39)	D367V	possibly damaging	Het
Tasor	T	G	14: 27,151,215 (GRCm39)	Y64D	probably benign	Het
Tnnt1	T	C	7: 4,512,576 (GRCm39)	E110G	probably damaging	Het
Tpm1	T	A	9: 66,935,451 (GRCm39)		probably null	Het
Unc93b1	T	C	19: 3,994,105 (GRCm39)	V412A	probably benign	Het
Uox	G	C	3: 146,330,403 (GRCm39)		probably null	Het
Usp44	T	C	10: 93,681,870 (GRCm39)	Y107H	probably benign	Het

Other mutations in Iqcd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01953:Iqcd	APN	5	120,738,554 (GRCm39)	missense	probably benign	0.00
R1420:Iqcd	UTSW	5	120,738,860 (GRCm39)	missense	probably damaging	1.00
R1574:Iqcd	UTSW	5	120,738,300 (GRCm39)	missense	probably damaging	0.98
R1574:Iqcd	UTSW	5	120,738,300 (GRCm39)	missense	probably damaging	0.98
R4038:Iqcd	UTSW	5	120,740,587 (GRCm39)	missense	probably damaging	0.97
R4178:Iqcd	UTSW	5	120,740,476 (GRCm39)	missense	probably damaging	1.00
R4405:Iqcd	UTSW	5	120,740,485 (GRCm39)	missense	probably damaging	1.00
R5326:Iqcd	UTSW	5	120,740,440 (GRCm39)	missense	probably damaging	1.00
R5364:Iqcd	UTSW	5	120,738,332 (GRCm39)	missense	probably damaging	1.00
R5656:Iqcd	UTSW	5	120,743,191 (GRCm39)	splice site	probably null
R5691:Iqcd	UTSW	5	120,740,571 (GRCm39)	nonsense	probably null
R5711:Iqcd	UTSW	5	120,740,571 (GRCm39)	nonsense	probably null
R6387:Iqcd	UTSW	5	120,744,920 (GRCm39)	missense	probably benign	0.28
R6634:Iqcd	UTSW	5	120,738,556 (GRCm39)	missense	probably benign	0.14
R7067:Iqcd	UTSW	5	120,743,212 (GRCm39)	missense	probably damaging	1.00
R7672:Iqcd	UTSW	5	120,744,881 (GRCm39)	missense	probably damaging	1.00
R8207:Iqcd	UTSW	5	120,740,514 (GRCm39)	missense	probably damaging	1.00
R8828:Iqcd	UTSW	5	120,738,232 (GRCm39)	missense	possibly damaging	0.90
R9217:Iqcd	UTSW	5	120,738,707 (GRCm39)	missense	possibly damaging	0.56
R9218:Iqcd	UTSW	5	120,738,707 (GRCm39)	missense	possibly damaging	0.56
R9404:Iqcd	UTSW	5	120,738,601 (GRCm39)	missense
R9525:Iqcd	UTSW	5	120,738,217 (GRCm39)	missense	probably benign	0.13
R9667:Iqcd	UTSW	5	120,744,737 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAGACGCATAAGCCCCTAG -3'
(R):5'- GGATTTGACCTCCTTGACCC -3'

Sequencing Primer
(F):5'- CTAGGGGAGGGGCACAACC -3'
(R):5'- AGGAGATCCCACCTATCTTGG -3'

Posted On

2018-06-06