Mutagenetix > Incidental Mutations

Incidental Mutation 'R4415:Colq'

326809

Institutional Source

Beutler Lab

Gene Symbol

Colq

Ensembl Gene

ENSMUSG00000057606

Gene Name

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

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31523082-31591343 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31535688 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 231 (K231E)

Ref Sequence

ENSEMBL: ENSMUSP00000121065 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112027
AA Change: K241E

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000107658
Gene: ENSMUSG00000057606
AA Change: K241E

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: K231E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121065
Gene: ENSMUSG00000057606
AA Change: K231E

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

noncoding transcript
Transcript: ENSMUST00000158616

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
Ace3	A	T	11: 106,005,121	D631V	probably benign	Het
Adam17	T	C	12: 21,345,701	I274V	possibly damaging	Het
Aebp1	A	G	11: 5,865,451	D303G	probably damaging	Het
B020004C17Rik	T	C	14: 57,017,417	*233R	probably null	Het
Bcl9l	C	T	9: 44,501,879	P127S	possibly damaging	Het
Bdp1	T	C	13: 100,030,861	D2215G	probably damaging	Het
Caly	T	C	7: 140,072,680	T52A	probably damaging	Het
Ccdc125	T	C	13: 100,696,309	S465P	possibly damaging	Het
Cdc23	ACC	AC	18: 34,637,318		probably null	Het
Fam32a	T	A	8: 72,221,941	I77N	probably damaging	Het
Gm597	T	A	1: 28,777,133	Q606L	probably benign	Het
Impdh1	C	T	6: 29,209,222	V49M	probably damaging	Het
Kcnh7	A	G	2: 62,706,073	I1055T	probably damaging	Het
Lad1	A	G	1: 135,828,746	D364G	probably benign	Het
Lama2	G	T	10: 26,989,344	Y947*	probably null	Het
Myo5b	T	A	18: 74,580,408	I108N	probably damaging	Het
Nvl	T	C	1: 181,105,114	T713A	probably benign	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Pappa	A	G	4: 65,305,295	T1236A	probably benign	Het
Rcl1	G	A	19: 29,118,362	V116I	probably benign	Het
Rdh14	G	A	12: 10,391,231		probably null	Het
Rfx2	T	A	17: 56,787,733	T204S	possibly damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Ripor1	T	C	8: 105,617,976	S581P	probably benign	Het
Rnf213	T	A	11: 119,483,964	V5084E	probably damaging	Het
Scn9a	A	T	2: 66,526,693	V1077E	probably damaging	Het
Slc15a5	A	G	6: 138,079,756	V54A	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Snx19	T	A	9: 30,437,483	L804Q	probably damaging	Het
Specc1l	C	A	10: 75,246,328	N519K	possibly damaging	Het
Stambp	A	T	6: 83,557,482	N274K	probably damaging	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Tacc3	T	G	5: 33,666,684		probably null	Het
Tmem55a	C	T	4: 14,912,463	R191C	probably damaging	Het
Tubb1	G	A	2: 174,457,673	E383K	probably benign	Het
Ube3b	A	T	5: 114,412,444	D844V	probably 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
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
R7988:Colq	UTSW	14	31553837	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GAACTCTGTTGGCATCTCCTTG -3'
(R):5'- TGGTCTGAAACTCCACTCCC -3'

Sequencing Primer
(F):5'- CTTGTGGCTTTCCTGGGAGAC -3'
(R):5'- CTTAGTGAGGTCATCAAACTTGC -3'

Posted On

2015-07-07