Mutagenetix > Incidental Mutation

Incidental Mutation 'R6147:Comtd1'

488972

Institutional Source

Beutler Lab

Gene Symbol

Comtd1

Ensembl Gene

ENSMUSG00000021773

Gene Name

catechol-O-methyltransferase domain containing 1

Synonyms

MT773, 1810030M08Rik

MMRRC Submission

044294-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.191) question?

Stock #

R6147 (G1)

Quality Score

130.008

Status

Not validated

Chromosome

Chromosomal Location

21895929-21898978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 21898883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 20 (A20S)

Ref Sequence

ENSEMBL: ENSMUSP00000119330 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022293] [ENSMUST00000124549] [ENSMUST00000172727] [ENSMUST00000173456] [ENSMUST00000177527]

AlphaFold

Q8BIG7

Predicted Effect

probably benign
Transcript: ENSMUST00000022293

SMART Domains

Protein: ENSMUSP00000022293
Gene: ENSMUSG00000021771

Domain	Start	End	E-Value	Type
Pfam:Porin_3	15	288	4.5e-86	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000022295

Predicted Effect

probably damaging
Transcript: ENSMUST00000124549
AA Change: A20S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: A20S

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
Pfam:Methyltransf_3	59	262	2.7e-58	PFAM
Pfam:Methyltransf_18	102	213	5.5e-9	PFAM
Pfam:Methyltransf_24	107	210	3.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142084

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152905

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170150

Predicted Effect

probably benign
Transcript: ENSMUST00000172727

SMART Domains

Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771

Domain	Start	End	E-Value	Type
Pfam:Porin_3	3	276	6.4e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173456

SMART Domains

Protein: ENSMUSP00000134023
Gene: ENSMUSG00000021771

Domain	Start	End	E-Value	Type
Pfam:Porin_3	3	276	6.4e-80	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177527

SMART Domains

Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	1	200	1.6e-64	PFAM
Pfam:Methyltransf_18	40	150	4.2e-10	PFAM
Pfam:Methyltransf_24	45	148	1.1e-15	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.3%
10x: 97.1%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	C	T	1: 127,657,157 (GRCm39)		probably benign	Het
Acsf3	T	A	8: 123,508,213 (GRCm39)	D236E	probably damaging	Het
Aqp1	G	T	6: 55,313,595 (GRCm39)	E40D	probably benign	Het
Arfgef2	A	G	2: 166,713,415 (GRCm39)	D1272G	probably damaging	Het
Arfip1	A	G	3: 84,436,485 (GRCm39)	V97A	probably benign	Het
Atp6v1b2	T	A	8: 69,555,134 (GRCm39)	Y165*	probably null	Het
Bclaf1	T	A	10: 20,199,171 (GRCm39)	D189E	possibly damaging	Het
Camsap2	G	A	1: 136,273,138 (GRCm39)	T13M	probably damaging	Het
Cblif	G	A	19: 11,724,936 (GRCm39)		probably benign	Het
Cntn5	T	A	9: 10,012,894 (GRCm39)	Y297F	probably damaging	Het
Cntnap5b	G	A	1: 99,978,506 (GRCm39)	C174Y	probably damaging	Het
Cntrl	A	C	2: 35,055,745 (GRCm39)	D1213A	possibly damaging	Het
Cspg4	A	T	9: 56,796,056 (GRCm39)	R1264W	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dlgap2	T	A	8: 14,777,294 (GRCm39)	C180S	probably benign	Het
Ednra	C	T	8: 78,393,951 (GRCm39)		probably benign	Het
Efcab3	T	C	11: 104,858,566 (GRCm39)	V3875A	unknown	Het
Ephb6	A	T	6: 41,593,715 (GRCm39)	S533C	probably damaging	Het
Fndc1	A	T	17: 7,972,594 (GRCm39)		probably null	Het
Gm12185	A	G	11: 48,806,717 (GRCm39)	I158T	probably benign	Het
Gm14325	A	T	2: 177,474,600 (GRCm39)	C161S	probably damaging	Het
Ighv9-1	T	A	12: 114,057,840 (GRCm39)	Q20L	probably damaging	Het
Khnyn	G	C	14: 56,125,060 (GRCm39)	S438T	probably damaging	Het
Krt9	T	C	11: 100,079,665 (GRCm39)	S576G	unknown	Het
Lrriq4	A	T	3: 30,713,228 (GRCm39)	N443I	probably damaging	Het
Luzp1	A	G	4: 136,268,374 (GRCm39)	Y199C	probably damaging	Het
Map2k3	T	A	11: 60,840,776 (GRCm39)	Y268*	probably null	Het
Men1	T	A	19: 6,387,272 (GRCm39)	D248E	probably damaging	Het
Mfsd4b2	A	T	10: 39,797,573 (GRCm39)	C261S	probably benign	Het
Mpeg1	T	G	19: 12,440,258 (GRCm39)	I572S	probably damaging	Het
Mrgprb2	A	G	7: 48,202,113 (GRCm39)	V204A	possibly damaging	Het
Mycbp2	A	T	14: 103,392,945 (GRCm39)	C805*	probably null	Het
Nphs2	A	T	1: 156,146,296 (GRCm39)	K91*	probably null	Het
Obox3	A	G	7: 15,359,926 (GRCm39)	S248P	probably damaging	Het
Or12d17	T	C	17: 37,777,430 (GRCm39)	I111T	probably benign	Het
Or5w19	C	T	2: 87,699,061 (GRCm39)	T242I	probably benign	Het
Or8k22	A	T	2: 86,162,844 (GRCm39)	N285K	probably damaging	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pan3	T	C	5: 147,485,093 (GRCm39)		probably benign	Het
Pate10	A	G	9: 35,653,528 (GRCm39)	T111A	possibly damaging	Het
Pate10	A	T	9: 35,653,406 (GRCm39)	Y70F	possibly damaging	Het
Pcdhb5	T	A	18: 37,453,779 (GRCm39)	L53Q	probably damaging	Het
Pcdhb9	G	T	18: 37,535,494 (GRCm39)	R496L	possibly damaging	Het
Peg10	C	T	6: 4,754,499 (GRCm39)		probably benign	Het
Plce1	A	G	19: 38,690,481 (GRCm39)	K722E	probably damaging	Het
Plch1	A	G	3: 63,630,302 (GRCm39)	S489P	probably damaging	Het
Plekhg3	T	C	12: 76,611,985 (GRCm39)	V362A	probably damaging	Het
Prorp	A	G	12: 55,426,093 (GRCm39)	Y168C	probably damaging	Het
Radil	G	A	5: 142,483,695 (GRCm39)	H264Y	probably benign	Het
Ranbp2	C	A	10: 58,315,250 (GRCm39)	T1990K	probably damaging	Het
Rnf207	T	C	4: 152,400,112 (GRCm39)	D192G	probably damaging	Het
Ryr1	A	T	7: 28,785,339 (GRCm39)	F1784Y	possibly damaging	Het
Set	T	A	2: 29,956,836 (GRCm39)	S2T	probably benign	Het
Slc26a2	T	A	18: 61,334,757 (GRCm39)	Y232F	probably damaging	Het
Sntb1	T	A	15: 55,511,406 (GRCm39)	M393L	probably benign	Het
Stx16	A	G	2: 173,932,480 (GRCm39)	T18A	probably damaging	Het
Stxbp5	A	T	10: 9,684,216 (GRCm39)	S585T	possibly damaging	Het
Sult2a7	T	C	7: 14,199,088 (GRCm39)	E313G	probably damaging	Het
Tbck	A	G	3: 132,400,207 (GRCm39)	K86R	probably benign	Het
Tom1	A	T	8: 75,781,320 (GRCm39)	Q255L	possibly damaging	Het
Trbv4	A	G	6: 41,036,637 (GRCm39)	Y54C	probably damaging	Het
Trim34a	A	T	7: 103,910,398 (GRCm39)	Q400L	probably damaging	Het
Trim42	G	T	9: 97,245,382 (GRCm39)	H473N	probably benign	Het
Tsbp1	T	C	17: 34,637,897 (GRCm39)	S31P	possibly damaging	Het
Tshr	T	A	12: 91,505,009 (GRCm39)	M649K	possibly damaging	Het
Vmn2r11	C	T	5: 109,202,700 (GRCm39)	V126M	probably benign	Het
Vps13b	T	A	15: 35,930,177 (GRCm39)	H3971Q	probably benign	Het
Wdr75	T	A	1: 45,858,698 (GRCm39)	N622K	probably benign	Het
Wdr93	A	T	7: 79,408,245 (GRCm39)	Q242L	probably benign	Het

Other mutations in Comtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03063:Comtd1	APN	14	21,897,735 (GRCm39)	splice site	probably null
IGL03068:Comtd1	APN	14	21,897,711 (GRCm39)	missense	probably damaging	1.00
R1694:Comtd1	UTSW	14	21,897,398 (GRCm39)	missense	probably damaging	1.00
R1887:Comtd1	UTSW	14	21,897,809 (GRCm39)	missense	probably damaging	1.00
R1925:Comtd1	UTSW	14	21,897,731 (GRCm39)	missense	probably damaging	1.00
R2153:Comtd1	UTSW	14	21,898,340 (GRCm39)	missense	possibly damaging	0.81
R2920:Comtd1	UTSW	14	21,897,686 (GRCm39)	missense	possibly damaging	0.47
R4923:Comtd1	UTSW	14	21,898,813 (GRCm39)	unclassified	probably benign
R5053:Comtd1	UTSW	14	21,897,764 (GRCm39)	missense	probably damaging	1.00
R5265:Comtd1	UTSW	14	21,898,861 (GRCm39)	missense	probably benign	0.06
R5478:Comtd1	UTSW	14	21,898,981 (GRCm39)	unclassified	probably benign
R5849:Comtd1	UTSW	14	21,898,188 (GRCm39)	missense	probably damaging	1.00
R8041:Comtd1	UTSW	14	21,897,985 (GRCm39)	missense	probably benign	0.15
R9390:Comtd1	UTSW	14	21,898,867 (GRCm39)	missense	possibly damaging	0.94
RF016:Comtd1	UTSW	14	21,898,664 (GRCm39)	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- CAGATACTGCCACAGGGGATTG -3'
(R):5'- CAATACGGCCATGTGTCACC -3'

Sequencing Primer
(F):5'- ATTGTCCTCAGGTGGCAGCAG -3'
(R):5'- ATACGGCCATGTGTCACCAGATG -3'

Posted On

2017-10-10