Mutagenetix > Incidental Mutation

Incidental Mutation 'R3749:Colq'

310110

Institutional Source

Beutler Lab

Gene Symbol

Colq

Ensembl Gene

ENSMUSG00000057606

Gene Name

collagen like tail subunit of asymmetric acetylcholinesterase

Synonyms

MMRRC Submission

040734-MU

Accession Numbers

Essential gene?

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

Stock #

R3749 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

31245039-31299820 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 31271410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128588 (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

SMART Domains

Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (50/51)

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
Adam12	T	C	7: 133,774,594 (GRCm39)	D5G	probably damaging	Het
Adam19	A	T	11: 46,028,437 (GRCm39)	D690V	probably benign	Het
Ankib1	G	T	5: 3,784,097 (GRCm39)	P293Q	probably damaging	Het
Arhgap19	T	A	19: 41,762,518 (GRCm39)	E461V	probably damaging	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bub1b	T	A	2: 118,445,936 (GRCm39)	N319K	possibly damaging	Het
Ccdc40	T	C	11: 119,155,252 (GRCm39)	V1164A	probably benign	Het
Cfhr1	C	A	1: 139,485,372 (GRCm39)		probably null	Het
Daam1	C	A	12: 72,017,940 (GRCm39)	D716E	probably damaging	Het
Dnah17	T	C	11: 117,973,742 (GRCm39)	S1935G	probably benign	Het
Dnah8	A	T	17: 31,003,148 (GRCm39)	K3616*	probably null	Het
Faap24	A	T	7: 35,092,437 (GRCm39)	V160D	possibly damaging	Het
Gpc1	C	A	1: 92,785,304 (GRCm39)	C414*	probably null	Het
Igkv9-120	G	A	6: 68,026,985 (GRCm39)	A7T	probably benign	Het
Kcnu1	T	A	8: 26,376,798 (GRCm39)	C391S	probably null	Het
Lrba	T	G	3: 86,283,260 (GRCm39)	L1858R	probably damaging	Het
Lrp10	A	T	14: 54,706,723 (GRCm39)	N520I	possibly damaging	Het
Marchf6	A	G	15: 31,462,160 (GRCm39)	V856A	probably benign	Het
Mfsd1	T	C	3: 67,490,286 (GRCm39)	S46P	probably benign	Het
Mme	T	A	3: 63,250,961 (GRCm39)	V334E	probably damaging	Het
Mroh2b	G	A	15: 4,981,728 (GRCm39)	W1513*	probably null	Het
Nuf2	T	A	1: 169,352,945 (GRCm39)	N20I	probably damaging	Het
Obsl1	T	C	1: 75,474,890 (GRCm39)	T642A	probably benign	Het
Olfm1	C	T	2: 28,098,100 (GRCm39)	T54I	probably damaging	Het
Or10c1	G	A	17: 37,522,691 (GRCm39)	R18C	possibly damaging	Het
Or6c3b	C	T	10: 129,527,830 (GRCm39)	V27I	probably benign	Het
Osbpl7	T	C	11: 96,946,879 (GRCm39)	V223A	probably damaging	Het
Patj	A	G	4: 98,357,837 (GRCm39)	Y701C	probably damaging	Het
Pkdrej	T	A	15: 85,705,278 (GRCm39)	K219N	probably damaging	Het
Scn2a	T	G	2: 65,544,115 (GRCm39)	V832G	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc25a25	G	T	2: 32,310,392 (GRCm39)	N122K	probably benign	Het
Slk	T	G	19: 47,608,248 (GRCm39)	D400E	possibly damaging	Het
Spon1	T	C	7: 113,365,621 (GRCm39)	L19P	probably damaging	Het
Spon1	T	A	7: 113,616,024 (GRCm39)	V297E	possibly damaging	Het
Supt16	A	G	14: 52,417,596 (GRCm39)	L306P	probably damaging	Het
Syne1	C	T	10: 5,002,267 (GRCm39)		probably benign	Het
Tas2r136	A	T	6: 132,754,200 (GRCm39)	F309Y	probably damaging	Het
Terb1	T	C	8: 105,223,466 (GRCm39)	D114G	probably damaging	Het
Tlr5	T	C	1: 182,802,004 (GRCm39)	I436T	probably benign	Het
Tpcn2	T	C	7: 144,809,260 (GRCm39)	H682R	probably damaging	Het
Tpi1	T	A	6: 124,789,754 (GRCm39)	S130C	probably damaging	Het
Ttn	G	A	2: 76,584,350 (GRCm39)	H22253Y	probably damaging	Het
Uggt2	A	T	14: 119,295,084 (GRCm39)	V38E	probably benign	Het
Vmn1r158	A	C	7: 22,489,639 (GRCm39)	L190W	probably damaging	Het
Vwa5b2	A	G	16: 20,417,076 (GRCm39)		probably benign	Het
Wnt2	T	C	6: 18,023,167 (GRCm39)	I161V	probably benign	Het
Zdhhc25	C	T	15: 88,485,226 (GRCm39)	S187L	probably benign	Het
Zfhx4	G	A	3: 5,308,225 (GRCm39)	E484K	possibly damaging	Het
Zkscan1	T	C	5: 138,099,703 (GRCm39)	S476P	probably damaging	Het
Zmynd8	A	G	2: 165,647,118 (GRCm39)	Y945H	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
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
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'- GCACCCACTACTATAGCTGC -3'
(R):5'- GGTGCCAAGATACAGTGCTG -3'

Sequencing Primer
(F):5'- ATAGCTGCATCTATTCATTGCATCAC -3'
(R):5'- TGCCAAGATACAGTGCTGAGAAAC -3'

Posted On

2015-04-17