Mutagenetix > Incidental Mutation

Incidental Mutation 'R7988:Colq'

651617

Institutional Source

Beutler Lab

Gene Symbol

Colq

Ensembl Gene

ENSMUSG00000057606

Gene Name

collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R7988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31523082-31591343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 31553837 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 41 (D41V)

Ref Sequence

ENSEMBL: ENSMUSP00000107658 (fasta)

Gene Model

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

AlphaFold

O35348

Predicted Effect

probably damaging
Transcript: ENSMUST00000112027
AA Change: D41V

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: D41V

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

possibly damaging
Transcript: ENSMUST00000150054
AA Change: D31V

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: D31V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610030E20Rik	C	T	6: 72,347,652	T56M	probably damaging	Het
2010111I01Rik	A	G	13: 63,061,140	D357G	probably benign	Het
4932415D10Rik	T	C	10: 82,296,100	I359V	probably benign	Het
Adamtsl5	C	T	10: 80,345,538	S36N	probably benign	Het
Adgrf5	A	T	17: 43,439,813		probably benign	Het
Ago1	A	G	4: 126,460,417	F200S	probably damaging	Het
Akr1cl	T	C	1: 65,024,706	D108G	possibly damaging	Het
Arhgef3	A	T	14: 27,401,786	D468V	probably benign	Het
Aspn	T	C	13: 49,551,877	C72R	possibly damaging	Het
Baz2b	T	C	2: 59,962,141	T548A	possibly damaging	Het
Birc6	G	A	17: 74,599,373		probably null	Het
Btnl2	A	T	17: 34,358,275	T135S	possibly damaging	Het
Ccnl1	T	A	3: 65,957,861	I90F	possibly damaging	Het
Ccnt1	T	C	15: 98,565,143		probably null	Het
Cemip	C	A	7: 84,003,408		probably benign	Het
Cfap45	A	G	1: 172,529,934	D85G	probably damaging	Het
Cfap54	T	A	10: 92,902,079	D2319V	unknown	Het
Cma1	T	C	14: 55,944,532	M14V	possibly damaging	Het
Cmtm1	T	C	8: 104,310,142		probably benign	Het
Col27a1	A	G	4: 63,331,322	H1738R	unknown	Het
Cubn	T	C	2: 13,332,355	T2437A	probably benign	Het
Dnah14	A	G	1: 181,783,574	D3755G	probably damaging	Het
Eprs	A	G	1: 185,418,348	Y1349C	probably damaging	Het
Eps8	C	T	6: 137,528,571	R53Q	possibly damaging	Het
Fam196a	T	G	7: 134,917,698	K368Q	probably damaging	Het
Fbf1	T	C	11: 116,152,768	D405G	probably benign	Het
Fen1	C	T	19: 10,200,310	E257K	possibly damaging	Het
Gstm7	A	T	3: 107,926,955	M198K	possibly damaging	Het
Hook3	A	T	8: 26,073,647	S190T	probably benign	Het
Htra4	A	C	8: 25,030,510		probably null	Het
Ighv1-15	T	C	12: 114,657,496	I70V	probably benign	Het
Ikzf4	T	A	10: 128,634,455	N452Y	probably damaging	Het
Iqcf5	T	A	9: 106,515,821	N92K	possibly damaging	Het
Itk	A	G	11: 46,355,834	Y186H	probably damaging	Het
Klhdc10	T	C	6: 30,446,691	S282P	probably benign	Het
Klhl18	T	A	9: 110,476,509	E29V	possibly damaging	Het
Ky	T	C	9: 102,525,415	S140P	probably damaging	Het
Lmntd2	T	C	7: 141,213,637	E112G	unknown	Het
Lrrc36	C	A	8: 105,452,086	D304E	possibly damaging	Het
Macf1	A	T	4: 123,506,480	F674Y	probably damaging	Het
Notch1	C	T	2: 26,471,001	D1111N	probably benign	Het
Osbpl8	T	G	10: 111,272,080	N312K	possibly damaging	Het
Otogl	C	T	10: 107,895,776	C168Y	probably damaging	Het
Phldb2	T	G	16: 45,825,571	T171P	probably benign	Het
Ppef2	A	T	5: 92,238,982	F365L	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Ryr1	G	A	7: 29,096,171	T1105I	probably benign	Het
Sclt1	T	A	3: 41,663,454	*29L	probably null	Het
Scn11a	T	C	9: 119,765,437	K1297E	probably damaging	Het
Serpinb9c	T	A	13: 33,150,279	Y288F	probably benign	Het
Setd1a	T	A	7: 127,786,194	M691K	probably benign	Het
Sftpc	T	C	14: 70,522,619	E66G	probably damaging	Het
Thnsl2	T	C	6: 71,141,319	T42A	probably benign	Het
Tram1	T	C	1: 13,569,975	D285G	probably benign	Het
Ttn	A	T	2: 76,736,240	I28103K	probably damaging	Het
Ttn	G	A	2: 76,845,030	P11137L	unknown	Het
Ttn	C	A	2: 76,896,759	V5821F	unknown	Het
Usp38	T	A	8: 81,014,316	M41L	probably benign	Het
Zcwpw1	T	G	5: 137,817,491	Y419D	possibly damaging	Het
Zfp407	G	A	18: 84,559,400	A1196V	possibly damaging	Het
Zfp446	T	A	7: 12,979,043	S103T	possibly damaging	Het

Other mutations in Colq

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Colq	APN	14	31535588	critical splice donor site	probably null
IGL00832:Colq	APN	14	31528346	nonsense	probably null
IGL01115:Colq	APN	14	31545128	splice site	probably benign
IGL01879:Colq	APN	14	31543995	missense	probably damaging	1.00
IGL02009:Colq	APN	14	31535642	missense	possibly damaging	0.86
IGL02935:Colq	APN	14	31535634	missense	probably damaging	0.97
IGL03168:Colq	APN	14	31524420	missense	probably damaging	1.00
R0288:Colq	UTSW	14	31543992	missense	possibly damaging	0.89
R0765:Colq	UTSW	14	31526037	missense	possibly damaging	0.94
R1756:Colq	UTSW	14	31547452	missense	probably damaging	0.97
R3749:Colq	UTSW	14	31549453	unclassified	probably benign
R4114:Colq	UTSW	14	31557867	start codon destroyed	probably benign
R4415:Colq	UTSW	14	31535688	missense	probably damaging	1.00
R4604:Colq	UTSW	14	31545103	missense	possibly damaging	0.77
R4628:Colq	UTSW	14	31544022	missense	probably damaging	1.00
R4749:Colq	UTSW	14	31529515	missense	possibly damaging	0.91
R4971:Colq	UTSW	14	31545077	missense	probably damaging	1.00
R5071:Colq	UTSW	14	31528832	missense	possibly damaging	0.53
R5096:Colq	UTSW	14	31552954	missense	possibly damaging	0.80
R5181:Colq	UTSW	14	31557842	missense	probably benign
R5251:Colq	UTSW	14	31539819	critical splice donor site	probably null
R7059:Colq	UTSW	14	31526034	missense	probably damaging	0.98
R7075:Colq	UTSW	14	31552909	missense	probably damaging	1.00
R7355:Colq	UTSW	14	31545109	missense	probably damaging	1.00
R7490:Colq	UTSW	14	31545086	missense	possibly damaging	0.93
R7651:Colq	UTSW	14	31528335	missense	possibly damaging	0.86
R9037:Colq	UTSW	14	31557787	intron	probably benign
R9797:Colq	UTSW	14	31528820	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TTAGAGCTGCCCCTCTTCAATG -3'
(R):5'- CCATTTCCCTTCAGCAGAGG -3'

Sequencing Primer
(F):5'- CCTCTTCAATGGGATCCTGAGG -3'
(R):5'- TTTCCCTTCAGCAGAGGCAAGAG -3'

Posted On

2020-09-15