Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Comtd1'

490479

Institutional Source

Beutler Lab

Gene Symbol

Comtd1

Ensembl Gene

ENSMUSG00000021773

Gene Name

catechol-O-methyltransferase domain containing 1

Synonyms

MT773, 1810030M08Rik

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

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

Stock #

R5849 (G1)

Quality Score

169

Status

Validated

Chromosome

Chromosomal Location

21895929-21898978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 21898188 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 48 (G48D)

Ref Sequence

ENSEMBL: ENSMUSP00000134830 (fasta)

Gene Model

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

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: G110D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: G110D

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 damaging
Transcript: ENSMUST00000177527
AA Change: G48D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773
AA Change: G48D

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

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: ENSMUST00000172727

SMART Domains

Protein: ENSMUSP00000133525
Gene: ENSMUSG00000021771

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

Meta Mutation Damage Score

0.9693

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
Abca8b	C	A	11: 109,868,639 (GRCm39)	G175V	probably damaging	Het
Agbl1	T	C	7: 75,974,846 (GRCm39)	S113P	probably benign	Het
Ak9	A	G	10: 41,224,045 (GRCm39)	D486G	probably benign	Het
Aopep	A	G	13: 63,163,312 (GRCm39)	D111G	probably benign	Het
Arhgap11a	T	C	2: 113,665,192 (GRCm39)	S469G	probably null	Het
Cyp27a1	T	C	1: 74,775,843 (GRCm39)	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,970,333 (GRCm39)		probably benign	Het
Dennd4c	T	C	4: 86,744,223 (GRCm39)	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,626,892 (GRCm39)	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,881,331 (GRCm39)		probably null	Het
Flcn	T	A	11: 59,695,586 (GRCm39)	I4L	probably damaging	Het
Gm57858	A	T	3: 36,087,026 (GRCm39)	D189E	possibly damaging	Het
Grin2c	T	C	11: 115,151,817 (GRCm39)	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,555 (GRCm39)	S456R	probably benign	Het
Igf1r	A	G	7: 67,839,781 (GRCm39)	D696G	probably benign	Het
Iqgap1	A	T	7: 80,452,906 (GRCm39)	V13D	probably benign	Het
Itgal	A	G	7: 126,916,492 (GRCm39)	N728S	probably benign	Het
Kcnb1	T	A	2: 166,947,946 (GRCm39)	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,366,111 (GRCm39)		probably benign	Het
Kdm4a	C	T	4: 118,019,037 (GRCm39)	R393Q	probably benign	Het
Lcn9	G	A	2: 25,713,268 (GRCm39)		probably null	Het
Madcam1	T	A	10: 79,500,824 (GRCm39)	M47K	probably benign	Het
Matn3	A	G	12: 9,008,829 (GRCm39)	Q314R	probably benign	Het
Msh3	A	T	13: 92,386,386 (GRCm39)	D826E	possibly damaging	Het
Muc4	A	T	16: 32,595,213 (GRCm39)	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,005,172 (GRCm39)		probably null	Het
Myo15b	A	G	11: 115,772,759 (GRCm39)	K1807E	probably damaging	Het
Myrip	A	G	9: 120,282,759 (GRCm39)	D688G	probably damaging	Het
Nup153	A	G	13: 46,840,452 (GRCm39)	F1052S	probably damaging	Het
Oplah	T	A	15: 76,181,547 (GRCm39)		probably benign	Het
Or4f14d	A	T	2: 111,960,223 (GRCm39)	I311K	probably benign	Het
Or52r1c	T	A	7: 102,734,728 (GRCm39)	M1K	probably null	Het
Or6z3	A	T	7: 6,463,993 (GRCm39)	I162F	possibly damaging	Het
Or9g19	A	T	2: 85,600,768 (GRCm39)	I208F	probably benign	Het
Pacsin2	A	G	15: 83,274,719 (GRCm39)	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,485,931 (GRCm39)	P363Q	probably damaging	Het
Rai1	C	A	11: 60,081,347 (GRCm39)	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,823,487 (GRCm39)	E1555K	probably benign	Het
Rnf214	G	A	9: 45,779,386 (GRCm39)	P455S	probably damaging	Het
Rnf220	T	C	4: 117,134,809 (GRCm39)	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,335,157 (GRCm39)	V106M	possibly damaging	Het
Sall2	C	A	14: 52,551,704 (GRCm39)	S495I	probably benign	Het
Sars2	A	G	7: 28,443,683 (GRCm39)	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,559,815 (GRCm39)	T693M	probably damaging	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Snrpe	T	A	1: 133,536,652 (GRCm39)	I43L	probably benign	Het
Srsf1	T	C	11: 87,938,684 (GRCm39)	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,453,837 (GRCm39)		probably benign	Het
Stbd1	T	G	5: 92,752,854 (GRCm39)	F115V	probably benign	Het
Stk11ip	T	A	1: 75,503,999 (GRCm39)		probably null	Het
Taf1b	T	A	12: 24,550,524 (GRCm39)	N36K	probably damaging	Het
Tanc1	A	T	2: 59,630,248 (GRCm39)	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,577,793 (GRCm39)	R208L	probably damaging	Het
Trafd1	T	C	5: 121,511,534 (GRCm39)	D428G	probably damaging	Het
Trim24	A	G	6: 37,934,664 (GRCm39)	E793G	probably damaging	Het
Tspan32	T	C	7: 142,569,324 (GRCm39)	C100R	probably damaging	Het
Ttn	T	C	2: 76,576,586 (GRCm39)	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,863,407 (GRCm39)	L894Q	probably damaging	Het
Wfs1	C	G	5: 37,130,608 (GRCm39)	G213R	probably damaging	Het
Zfp384	G	A	6: 125,001,062 (GRCm39)	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,034,086 (GRCm39)	K690N	probably 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
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
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'- TGCTCACCCAATGTCTGCAG -3'
(R):5'- TTCCATGATGACCTGTGAACAG -3'

Sequencing Primer
(F):5'- GAAGGTCGATCTTCTGCTCCAC -3'
(R):5'- TGTGAACAGGCCCAGCTTCTG -3'

Posted On

2017-10-20