Mutagenetix > Incidental Mutation

Incidental Mutation 'R5181:Colq'

397568

Institutional Source

Beutler Lab

Gene Symbol

Colq

Ensembl Gene

ENSMUSG00000057606

Gene Name

collagen like tail subunit of asymmetric acetylcholinesterase

Synonyms

MMRRC Submission

042761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31245039-31299820 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31279799 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 9 (H9L)

Ref Sequence

ENSEMBL: ENSMUSP00000121065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112027] [ENSMUST00000124014] [ENSMUST00000150054] [ENSMUST00000167175]

AlphaFold

O35348

Predicted Effect

probably benign
Transcript: ENSMUST00000112027

SMART Domains

Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606

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 benign
Transcript: ENSMUST00000124014

Predicted Effect

probably benign
Transcript: ENSMUST00000150054
AA Change: H9L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: H9L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000167175

SMART Domains

Protein: ENSMUSP00000128588
Gene: ENSMUSG00000115022

Domain	Start	End	E-Value	Type
Pfam:TPP_enzyme_N	17	139	3.6e-35	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	T	A	5: 8,764,937 (GRCm39)	D642E	probably benign	Het
Anxa2	T	C	9: 69,383,347 (GRCm39)	V54A	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cdca2	A	G	14: 67,917,614 (GRCm39)	S595P	probably damaging	Het
Cenpe	G	A	3: 134,948,064 (GRCm39)	E1208K	probably damaging	Het
Cfh	T	C	1: 140,075,384 (GRCm39)		probably benign	Het
Coq8b	T	C	7: 26,951,747 (GRCm39)	I403T	possibly damaging	Het
Cyrib	T	A	15: 63,810,526 (GRCm39)	M234L	probably damaging	Het
Dcdc2a	C	A	13: 25,386,347 (GRCm39)	T407K	possibly damaging	Het
Dennd2b	T	C	7: 109,155,997 (GRCm39)	Y251C	probably benign	Het
Gask1b	A	T	3: 79,793,618 (GRCm39)	S29C	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Inpp5f	A	G	7: 128,281,555 (GRCm39)	T519A	probably damaging	Het
Isl2	G	T	9: 55,449,561 (GRCm39)	R79L	probably benign	Het
Kif9	T	A	9: 110,350,336 (GRCm39)	D742E	probably damaging	Het
Lgi2	T	A	5: 52,711,792 (GRCm39)	K176M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrch4	A	G	5: 137,627,665 (GRCm39)	D66G	probably damaging	Het
Milr1	G	A	11: 106,645,806 (GRCm39)	G116D	probably damaging	Het
Myof	T	C	19: 37,921,071 (GRCm39)	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,218,204 (GRCm39)	H320R	probably benign	Het
Nox3	A	T	17: 3,685,561 (GRCm39)	Y562*	probably null	Het
Nrap	G	A	19: 56,333,960 (GRCm39)	H884Y	possibly damaging	Het
Odad4	G	A	11: 100,440,719 (GRCm39)	D67N	probably damaging	Het
Pde3a	T	C	6: 141,426,981 (GRCm39)		probably null	Het
Pgm2l1	G	A	7: 99,910,965 (GRCm39)	C303Y	probably benign	Het
Phip	A	G	9: 82,753,243 (GRCm39)		probably benign	Het
Plxna4	A	G	6: 32,493,932 (GRCm39)	I228T	probably damaging	Het
Prdm2	A	G	4: 142,861,536 (GRCm39)	S585P	probably benign	Het
Prpf6	T	C	2: 181,291,339 (GRCm39)	I718T	probably damaging	Het
Rpp40	T	C	13: 36,080,695 (GRCm39)		probably null	Het
Skic2	T	C	17: 35,063,802 (GRCm39)	D547G	probably benign	Het
Slc22a22	T	A	15: 57,118,519 (GRCm39)	Y264F	probably benign	Het
Slc5a4b	A	T	10: 75,896,221 (GRCm39)	L578*	probably null	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Sult2a4	T	G	7: 13,722,316 (GRCm39)	I50L	probably benign	Het
Taar6	T	C	10: 23,860,683 (GRCm39)	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmem98	T	C	11: 80,710,758 (GRCm39)	V139A	probably damaging	Het
Triobp	T	C	15: 78,851,954 (GRCm39)	Y703H	probably benign	Het
Ttc34	A	G	4: 154,946,703 (GRCm39)	T868A	probably benign	Het
Ttn	C	T	2: 76,665,225 (GRCm39)		probably benign	Het
Vipas39	A	T	12: 87,286,601 (GRCm39)	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,790,001 (GRCm39)	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,208,387 (GRCm39)	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,156,203 (GRCm39)	R461S	probably damaging	Het
Xylb	T	A	9: 119,193,567 (GRCm39)	L87Q	probably damaging	Het
Zcchc9	T	A	13: 91,945,281 (GRCm39)	K101*	probably null	Het
Zfp503	C	A	14: 22,035,705 (GRCm39)	A404S	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	probably damaging	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
R5251:Colq	UTSW	14	31,261,776 (GRCm39)	critical splice donor site	probably null
R7059:Colq	UTSW	14	31,247,991 (GRCm39)	missense	probably damaging	0.98
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'- TGCCATCTTAACACTGACTGAG -3'
(R):5'- GCATCTAGGGCAGAAGCAAC -3'

Sequencing Primer
(F):5'- AAATTCTGCTGATGCTCCCAGG -3'
(R):5'- CATCAAAGCAGGGATTGGCC -3'

Posted On

2016-07-06