Mutagenetix > Incidental Mutation

Incidental Mutation 'R9390:Comtd1'

710564

Institutional Source

Beutler Lab

Gene Symbol

Comtd1

Ensembl Gene

ENSMUSG00000021773

Gene Name

catechol-O-methyltransferase domain containing 1

Synonyms

MT773, 1810030M08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R9390 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21895929-21898978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21898867 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 25 (F25S)

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

possibly damaging
Transcript: ENSMUST00000124549
AA Change: F25S

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: F25S

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

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	T	16: 90,853,096 (GRCm39)	S13R	probably benign	Het
Amn1	A	T	6: 149,084,983 (GRCm39)	D32E	probably damaging	Het
Asph	T	C	4: 9,635,927 (GRCm39)	D108G	probably damaging	Het
C1rb	T	C	6: 124,557,336 (GRCm39)	L491P	probably damaging	Het
Cep120	G	A	18: 53,839,984 (GRCm39)	R759*	probably null	Het
Chmp6	C	T	11: 119,806,288 (GRCm39)	T38M	possibly damaging	Het
Dthd1	G	A	5: 62,975,904 (GRCm39)	G193R	possibly damaging	Het
Dyrk1a	T	A	16: 94,474,330 (GRCm39)	S362R	probably damaging	Het
Ecm2	A	G	13: 49,683,792 (GRCm39)	D590G	probably benign	Het
Exd1	A	T	2: 119,354,180 (GRCm39)	W293R	probably damaging	Het
Fam110a	C	T	2: 151,812,116 (GRCm39)	R218Q	probably benign	Het
Fga	A	T	3: 82,940,610 (GRCm39)	N755Y	probably damaging	Het
Fstl4	C	A	11: 52,891,102 (GRCm39)	T80K	probably benign	Het
Gbp5	A	G	3: 142,208,783 (GRCm39)	K109E	probably benign	Het
Gucy2g	A	G	19: 55,190,607 (GRCm39)	V1009A	probably null	Het
Herc6	C	T	6: 57,602,955 (GRCm39)	Q545*	probably null	Het
Hpd	T	A	5: 123,318,794 (GRCm39)		probably null	Het
Il4	C	T	11: 53,504,837 (GRCm39)	R76H	probably damaging	Het
Inpp4b	T	C	8: 82,497,522 (GRCm39)	V114A	probably damaging	Het
Ints14	A	G	9: 64,891,314 (GRCm39)	T432A	probably benign	Het
Isoc1	G	A	18: 58,804,350 (GRCm39)	R126H	probably damaging	Het
Klb	G	T	5: 65,533,044 (GRCm39)	R451L	possibly damaging	Het
Lrtm2	C	T	6: 119,297,948 (GRCm39)	C31Y	probably benign	Het
Mga	C	T	2: 119,794,332 (GRCm39)	S2672F	probably damaging	Het
Mkrn3	T	C	7: 62,069,288 (GRCm39)	I168V	probably benign	Het
Mlph	C	T	1: 90,867,088 (GRCm39)	T370I	probably benign	Het
Naaladl1	A	T	19: 6,162,725 (GRCm39)	I478F	probably damaging	Het
Neb	A	T	2: 52,065,157 (GRCm39)	H6251Q	probably benign	Het
Nom1	C	T	5: 29,639,766 (GRCm39)	R31C	probably benign	Het
Nup153	A	C	13: 46,840,642 (GRCm39)	F989V	probably damaging	Het
Nup188	T	C	2: 30,220,777 (GRCm39)		probably null	Het
Or4c12	T	C	2: 89,773,569 (GRCm39)	K297E	probably benign	Het
Or5aq6	A	T	2: 86,923,390 (GRCm39)	M117K	possibly damaging	Het
Or6c210	A	G	10: 129,495,938 (GRCm39)	T88A	probably benign	Het
Ovgp1	T	C	3: 105,893,883 (GRCm39)		probably benign	Het
Pcare	T	C	17: 72,057,983 (GRCm39)	T565A	probably benign	Het
Pcdhb4	T	C	18: 37,442,781 (GRCm39)	V697A	possibly damaging	Het
Pds5a	G	T	5: 65,823,600 (GRCm39)	Q64K	probably benign	Het
Pmpcb	T	C	5: 21,953,810 (GRCm39)	F353L	probably damaging	Het
Pus10	G	A	11: 23,656,937 (GRCm39)	C221Y	probably damaging	Het
Qrfp	A	G	2: 31,698,749 (GRCm39)	V61A	possibly damaging	Het
Runx1t1	A	G	4: 13,865,932 (GRCm39)	I393M	probably benign	Het
Sh2d5	T	G	4: 137,985,481 (GRCm39)	S310A	probably benign	Het
Shisa9	A	G	16: 12,085,408 (GRCm39)	E339G	possibly damaging	Het
Slc26a10	C	T	10: 127,009,239 (GRCm39)	E641K	probably benign	Het
Slc5a6	A	G	5: 31,197,803 (GRCm39)	V302A	possibly damaging	Het
Tdrd7	T	A	4: 46,005,416 (GRCm39)	D407E	probably damaging	Het
Trp53	A	T	11: 69,478,394 (GRCm39)	Q101L	probably benign	Het
Tsc2	T	A	17: 24,823,824 (GRCm39)	N994Y	probably damaging	Het
Ttc16	T	G	2: 32,657,195 (GRCm39)	K577Q	possibly damaging	Het
Vmn1r195	A	G	13: 22,462,535 (GRCm39)	I2V	probably benign	Het
Vmn2r83	G	T	10: 79,317,322 (GRCm39)	E522*	probably null	Het
Wdr48	T	A	9: 119,746,245 (GRCm39)	F450L	probably benign	Het
Wnt9a	G	A	11: 59,218,592 (GRCm39)	E100K	possibly damaging	Het
Zfp729b	A	T	13: 67,739,182 (GRCm39)	S1028T	probably benign	Het
Zfp729b	C	T	13: 67,742,014 (GRCm39)	V84I	possibly damaging	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
R6147:Comtd1	UTSW	14	21,898,883 (GRCm39)	missense	probably damaging	1.00
R8041:Comtd1	UTSW	14	21,897,985 (GRCm39)	missense	probably benign	0.15
RF016:Comtd1	UTSW	14	21,898,664 (GRCm39)	missense	probably benign	0.41

Predicted Primers

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

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

Posted On

2022-04-18