Mutagenetix > Incidental Mutation

Incidental Mutation 'R7059:Colq'

548142

Institutional Source

Beutler Lab

Gene Symbol

Colq

Ensembl Gene

ENSMUSG00000057606

Gene Name

collagen like tail subunit of asymmetric acetylcholinesterase

Synonyms

MMRRC Submission

045156-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R7059 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31245039-31299820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31247991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 409 (C409F)

Ref Sequence

ENSEMBL: ENSMUSP00000121065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112027] [ENSMUST00000150054]

AlphaFold

O35348

Predicted Effect

probably benign
Transcript: ENSMUST00000112027
AA Change: C419F

PolyPhen 2 Score 0.272 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: C419F

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
low complexity region	53	67	N/A	INTRINSIC
Pfam:Collagen	91	155	8.8e-11	PFAM
low complexity region	179	191	N/A	INTRINSIC
low complexity region	194	206	N/A	INTRINSIC
Pfam:Collagen	215	293	3.7e-8	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000150054
AA Change: C409F

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: C409F

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
low complexity region	43	57	N/A	INTRINSIC
Pfam:Collagen	81	143	1.5e-11	PFAM
low complexity region	169	181	N/A	INTRINSIC
low complexity region	184	196	N/A	INTRINSIC
Pfam:Collagen	202	283	6.4e-9	PFAM

Meta Mutation Damage Score

0.9113

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (54/55)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit tremors, reduced body weight, lack of asymmetric forms of acetylcholinesterase and butyrylcholinesterase, and lethality prior to maturation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430097D07Rik	T	C	2: 32,464,509 (GRCm39)		probably benign	Het
Abca16	A	G	7: 120,020,971 (GRCm39)	T5A	probably benign	Het
Abraxas1	T	C	5: 100,954,103 (GRCm39)	D349G	probably benign	Het
Adcyap1r1	T	A	6: 55,468,295 (GRCm39)	L405Q	probably damaging	Het
Aqp5	A	T	15: 99,492,127 (GRCm39)	T125S	probably benign	Het
Asah1	A	T	8: 41,800,106 (GRCm39)	N169K	probably damaging	Het
Atl3	A	G	19: 7,511,333 (GRCm39)	N515D	probably benign	Het
Atl3	A	C	19: 7,511,334 (GRCm39)	N520T	probably benign	Het
Atp6v1c2	C	A	12: 17,339,005 (GRCm39)	E249*	probably null	Het
Bcl2a1b	T	A	9: 89,081,813 (GRCm39)	I134K	probably damaging	Het
Brd10	T	A	19: 29,696,945 (GRCm39)	E849D	probably benign	Het
Btbd10	C	T	7: 112,929,129 (GRCm39)	R159H	probably damaging	Het
Chmp6	T	C	11: 119,806,866 (GRCm39)	F7L	probably damaging	Het
Cpox	T	A	16: 58,491,290 (GRCm39)	V167E	probably damaging	Het
Cul3	T	C	1: 80,254,141 (GRCm39)	Y545C	probably benign	Het
Dqx1	C	T	6: 83,041,790 (GRCm39)	A544V	probably benign	Het
Dzip3	A	G	16: 48,801,305 (GRCm39)	I73T	probably benign	Het
Epha3	T	A	16: 63,388,818 (GRCm39)	Y810F	probably damaging	Het
Esp36	A	T	17: 38,727,942 (GRCm39)	I113N	unknown	Het
Fbxw17	T	A	13: 50,586,584 (GRCm39)	W429R	probably damaging	Het
Fcrl2	A	T	3: 87,164,647 (GRCm39)	I293N	possibly damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Gm8126	T	A	14: 43,118,975 (GRCm39)	L148H	probably benign	Het
Gpr39	C	A	1: 125,605,696 (GRCm39)	S208Y	probably damaging	Het
Heatr5a	T	C	12: 51,935,017 (GRCm39)	E1662G	probably damaging	Het
Hgfac	T	A	5: 35,201,773 (GRCm39)	L302Q	possibly damaging	Het
Itih1	G	A	14: 30,653,266 (GRCm39)	H721Y	possibly damaging	Het
Kat8	A	G	7: 127,524,075 (GRCm39)	I372V	probably benign	Het
Kcnk1	T	A	8: 126,756,466 (GRCm39)	Y329*	probably null	Het
Kcns2	A	T	15: 34,838,981 (GRCm39)	I115F	probably damaging	Het
Kif1a	C	T	1: 92,974,551 (GRCm39)		probably benign	Het
Lcn2	T	A	2: 32,277,608 (GRCm39)	D127V	possibly damaging	Het
Lrfn1	T	C	7: 28,166,355 (GRCm39)	V583A	possibly damaging	Het
Map3k1	T	C	13: 111,909,312 (GRCm39)	I55V	probably benign	Het
Mapk9	T	C	11: 49,757,874 (GRCm39)		probably null	Het
Mrpl18	A	G	17: 13,132,668 (GRCm39)	S154P	possibly damaging	Het
Mst1	C	A	9: 107,961,263 (GRCm39)	H524Q	probably benign	Het
Mtpap	T	C	18: 4,396,202 (GRCm39)	L498P	probably damaging	Het
Myl3	C	T	9: 110,571,105 (GRCm39)		probably benign	Het
Myrfl	T	C	10: 116,685,111 (GRCm39)	T90A	probably benign	Het
Mzf1	G	T	7: 12,786,985 (GRCm39)	S28R	probably damaging	Het
Olfm1	T	C	2: 28,112,628 (GRCm39)	S205P	probably damaging	Het
Or52e8	A	T	7: 104,625,224 (GRCm39)		probably null	Het
Prrc2a	G	A	17: 35,376,364 (GRCm39)	P809S	probably damaging	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rbm48	A	T	5: 3,640,625 (GRCm39)	C251*	probably null	Het
Rxfp1	A	T	3: 79,559,576 (GRCm39)	V415E	probably damaging	Het
Slc12a6	T	A	2: 112,183,257 (GRCm39)	L748Q	probably damaging	Het
Slc19a3	T	A	1: 83,000,090 (GRCm39)	Y309F	probably damaging	Het
Slc36a1	A	G	11: 55,114,498 (GRCm39)	D192G	probably damaging	Het
Slc38a4	G	T	15: 96,906,895 (GRCm39)	S281*	probably null	Het
Syne1	A	T	10: 5,296,859 (GRCm39)	S1201T	probably damaging	Het
Tex15	C	A	8: 34,064,758 (GRCm39)	T1396K	possibly damaging	Het
Zswim8	G	T	14: 20,764,641 (GRCm39)		probably null	Het

Other mutations in Colq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Colq	APN	14	31,257,545 (GRCm39)	critical splice donor site	probably null
IGL00832:Colq	APN	14	31,250,303 (GRCm39)	nonsense	probably null
IGL01115:Colq	APN	14	31,267,085 (GRCm39)	splice site	probably benign
IGL01879:Colq	APN	14	31,265,952 (GRCm39)	missense	probably damaging	1.00
IGL02009:Colq	APN	14	31,257,599 (GRCm39)	missense	possibly damaging	0.86
IGL02935:Colq	APN	14	31,257,591 (GRCm39)	missense	probably damaging	0.97
IGL03168:Colq	APN	14	31,246,377 (GRCm39)	missense	probably damaging	1.00
R0288:Colq	UTSW	14	31,265,949 (GRCm39)	missense	possibly damaging	0.89
R0765:Colq	UTSW	14	31,247,994 (GRCm39)	missense	possibly damaging	0.94
R1756:Colq	UTSW	14	31,269,409 (GRCm39)	missense	probably damaging	0.97
R3749:Colq	UTSW	14	31,271,410 (GRCm39)	unclassified	probably benign
R4114:Colq	UTSW	14	31,279,824 (GRCm39)	start codon destroyed	probably benign
R4415:Colq	UTSW	14	31,257,645 (GRCm39)	missense	probably damaging	1.00
R4604:Colq	UTSW	14	31,267,060 (GRCm39)	missense	possibly damaging	0.77
R4628:Colq	UTSW	14	31,265,979 (GRCm39)	missense	probably damaging	1.00
R4749:Colq	UTSW	14	31,251,472 (GRCm39)	missense	possibly damaging	0.91
R4971:Colq	UTSW	14	31,267,034 (GRCm39)	missense	probably damaging	1.00
R5071:Colq	UTSW	14	31,250,789 (GRCm39)	missense	possibly damaging	0.53
R5096:Colq	UTSW	14	31,274,911 (GRCm39)	missense	possibly damaging	0.80
R5181:Colq	UTSW	14	31,279,799 (GRCm39)	missense	probably benign
R5251:Colq	UTSW	14	31,261,776 (GRCm39)	critical splice donor site	probably null
R7075:Colq	UTSW	14	31,274,866 (GRCm39)	missense	probably damaging	1.00
R7355:Colq	UTSW	14	31,267,066 (GRCm39)	missense	probably damaging	1.00
R7490:Colq	UTSW	14	31,267,043 (GRCm39)	missense	possibly damaging	0.93
R7651:Colq	UTSW	14	31,250,292 (GRCm39)	missense	possibly damaging	0.86
R7988:Colq	UTSW	14	31,275,794 (GRCm39)	missense	probably damaging	0.98
R9037:Colq	UTSW	14	31,279,744 (GRCm39)	intron	probably benign
R9797:Colq	UTSW	14	31,250,777 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AACTACGGGAGACTGGACTC -3'
(R):5'- CAGTGTTCTTACTTCAGGGTATGTC -3'

Sequencing Primer
(F):5'- GGAGACTGGACTCTACCCTAC -3'
(R):5'- GAGTCTGAGGCCTTATGGAAG -3'

Posted On

2019-05-13