Mutagenetix > Incidental Mutation

Incidental Mutation 'R2920:Comtd1'

255490

Institutional Source

Beutler Lab

Gene Symbol

Comtd1

Ensembl Gene

ENSMUSG00000021773

Gene Name

catechol-O-methyltransferase domain containing 1

Synonyms

MT773, 1810030M08Rik

MMRRC Submission

040505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R2920 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21845855-21848977 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21847618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 149 (L149P)

Ref Sequence

ENSEMBL: ENSMUSP00000134830 (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

possibly damaging
Transcript: ENSMUST00000124549
AA Change: L211P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: L211P

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

possibly damaging
Transcript: ENSMUST00000177527
AA Change: L149P

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773
AA Change: L149P

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

Meta Mutation Damage Score

0.4846

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	A	G	10: 10,390,243	Y1025H	probably damaging	Het
Adgrv1	C	T	13: 81,448,865	A4122T	probably benign	Het
Aloxe3	C	T	11: 69,142,923	T621I	probably damaging	Het
Atp2b3	A	C	X: 73,533,920	T318P	probably benign	Het
Atrx	A	T	X: 105,830,868	V1962D	probably benign	Het
Chl1	C	A	6: 103,695,343	T531K	probably damaging	Het
Clca3b	T	A	3: 144,837,853	D405V	probably benign	Het
Clca3b	C	T	3: 144,846,931	D115N	probably benign	Het
Cops7a	A	G	6: 124,962,362	V108A	probably benign	Het
Crebbp	A	G	16: 4,119,082	V343A	probably damaging	Het
Edrf1	T	A	7: 133,667,572	D1109E	probably benign	Het
Elmo3	A	G	8: 105,308,059	E359G	possibly damaging	Het
Ep400	C	A	5: 110,755,914	G273V	probably damaging	Het
Fgfr3	A	G	5: 33,733,940	N516S	probably damaging	Het
Glb1l	T	A	1: 75,209,190	E31D	probably benign	Het
Gm10093	A	G	17: 78,492,846	D422G	probably damaging	Het
Il12rb2	C	T	6: 67,360,568	V110I	probably damaging	Het
Ints3	T	C	3: 90,393,162	E884G	probably benign	Het
Lin7b	A	G	7: 45,368,397	V170A	possibly damaging	Het
Lrch2	A	T	X: 147,473,030	V750E	probably damaging	Het
Mepe	C	T	5: 104,338,247	R418C	probably damaging	Het
Mettl25	A	T	10: 105,765,177		probably null	Het
Mphosph9	G	A	5: 124,261,006	T982I	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Myo10	G	T	15: 25,801,140	V1472L	probably damaging	Het
Myo9b	A	G	8: 71,325,857	K445R	probably damaging	Het
Ntng2	T	C	2: 29,204,211	M383V	probably benign	Het
Olfr1353	A	C	10: 78,970,012	D121A	probably damaging	Het
Olfr30	T	C	11: 58,455,577	Y124C	probably damaging	Het
Olfr702	C	T	7: 106,824,364	R54Q	probably benign	Het
Pak6	A	T	2: 118,694,007		probably benign	Het
Pcdh8	G	T	14: 79,768,714	P803Q	possibly damaging	Het
Pfkfb3	C	T	2: 11,484,327	V286I	probably benign	Het
Rbp3	C	T	14: 33,956,018	T641M	probably damaging	Het
Rint1	A	G	5: 23,805,402	E203G	probably benign	Het
Sdf2	G	C	11: 78,254,854	V126L	probably damaging	Het
Slc13a5	T	C	11: 72,247,791	E442G	possibly damaging	Het
Slc14a2	G	T	18: 78,158,297	S669*	probably null	Het
Slc38a7	A	G	8: 95,845,943	I157T	possibly damaging	Het
Slc4a5	T	C	6: 83,264,387	L215P	probably damaging	Het
Tbc1d9	T	C	8: 83,210,469	V60A	probably benign	Het
Tcerg1l	T	C	7: 138,248,379	R422G	probably damaging	Het
Tmem107	T	C	11: 69,071,421	L68P	probably damaging	Het
Ugt2b5	A	G	5: 87,125,407	F467L	possibly damaging	Het
Vmn1r19	A	T	6: 57,404,924	N154I	probably benign	Het
Vmn2r69	T	A	7: 85,411,765	I204L	probably benign	Het
Zbtb1	T	A	12: 76,385,845	S202T	possibly damaging	Het

Other mutations in Comtd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03063:Comtd1	APN	14	21847667	splice site	probably null
IGL03068:Comtd1	APN	14	21847643	missense	probably damaging	1.00
R1694:Comtd1	UTSW	14	21847330	missense	probably damaging	1.00
R1887:Comtd1	UTSW	14	21847741	missense	probably damaging	1.00
R1925:Comtd1	UTSW	14	21847663	missense	probably damaging	1.00
R2153:Comtd1	UTSW	14	21848272	missense	possibly damaging	0.81
R4923:Comtd1	UTSW	14	21848745	unclassified	probably benign
R5053:Comtd1	UTSW	14	21847696	missense	probably damaging	1.00
R5265:Comtd1	UTSW	14	21848793	missense	probably benign	0.06
R5478:Comtd1	UTSW	14	21848913	unclassified	probably benign
R5849:Comtd1	UTSW	14	21848120	missense	probably damaging	1.00
R6147:Comtd1	UTSW	14	21848815	missense	probably damaging	1.00
R8041:Comtd1	UTSW	14	21847917	missense	probably benign	0.15
R9390:Comtd1	UTSW	14	21848799	missense	possibly damaging	0.94
RF016:Comtd1	UTSW	14	21848596	missense	probably benign	0.41

Predicted Primers

PCR Primer
(F):5'- TCAACAGTCTTGTTCCTGGGC -3'
(R):5'- GAACAAAACTGGCGACCCTGAG -3'

Sequencing Primer
(F):5'- TGAGGCTGCAGCACTTCTC -3'
(R):5'- AGCCCGCTGAGACCCTAG -3'

Posted On

2014-12-29