Mutagenetix > Incidental Mutation

Incidental Mutation 'RF016:Comtd1'

603578

Institutional Source

Beutler Lab

Gene Symbol

Comtd1

Ensembl Gene

ENSMUSG00000021773

Gene Name

catechol-O-methyltransferase domain containing 1

Synonyms

MT773, 1810030M08Rik

Accession Numbers

Essential gene?

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

Stock #

RF016 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21895929-21898978 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21898664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 56 (Q56L)

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

probably benign
Transcript: ENSMUST00000124549
AA Change: Q56L

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: Q56L

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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	TGCTGTGGC	TGCTGTGGCGGCTGTGGC	1: 82,891,298 (GRCm39)		probably benign	Het
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Amer3	A	G	1: 34,626,201 (GRCm39)	I147V	probably damaging	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,962 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGACGGCG	18: 36,693,963 (GRCm39)		probably benign	Het
Ankzf1	G	A	1: 75,172,477 (GRCm39)	R259H	probably damaging	Het
Apol9b	T	C	15: 77,619,714 (GRCm39)	V170A	probably benign	Het
Asb3	A	G	11: 31,011,407 (GRCm39)	I267M	possibly damaging	Het
Baz2a	A	G	10: 127,961,185 (GRCm39)	E1636G	probably benign	Het
Birc6	G	T	17: 74,996,319 (GRCm39)	V4513F	probably damaging	Het
Blm	CCTCCTCC	CCTCCTCCTCCTACTCCTCC	7: 80,162,674 (GRCm39)		probably null	Het
Ccdc113	G	A	8: 96,264,733 (GRCm39)	R81H	probably benign	Het
Ccdc27	T	C	4: 154,120,567 (GRCm39)	R410G	probably benign	Het
Cdhr5	A	G	7: 140,852,097 (GRCm39)	V435A	possibly damaging	Het
Cercam	T	C	2: 29,759,317 (GRCm39)	S15P	unknown	Het
Cntrl	T	C	2: 35,009,998 (GRCm39)	V224A	probably benign	Het
Cul9	CCT	CCTACT	17: 46,811,789 (GRCm39)		probably null	Het
Cyb5r4	AGGGA	AGGGATGGGACAGACCCACTGCCCCGGGA	9: 86,922,497 (GRCm39)		probably benign	Het
Cyb5r4	TGTGACAGACACACTGCCCAGGGA	TGTGACAGACACACTGCCCAGGGACGTGACAGACACACTGCCCAGGGA	9: 86,922,478 (GRCm39)		probably benign	Het
Cyb5r4	CCCAGGGA	CCCAGGGATGTGACAGACACACTGACCAGGGA	9: 86,922,494 (GRCm39)		probably benign	Het
Cyld	T	A	8: 89,432,069 (GRCm39)	Y22*	probably null	Het
Dbt	T	C	3: 116,333,363 (GRCm39)	Y278H	probably damaging	Het
Ddb1	A	G	19: 10,605,222 (GRCm39)	H1070R	probably damaging	Het
Dek	G	T	13: 47,251,662 (GRCm39)	S248*	probably null	Het
Dixdc1	T	C	9: 50,604,941 (GRCm39)	T300A	probably benign	Het
Dusp8	A	T	7: 141,636,589 (GRCm39)	S334T	probably benign	Het
Efhd2	CCGCCG	CCGCCGACGCCG	4: 141,602,067 (GRCm39)		probably benign	Het
Ehbp1	T	C	11: 22,096,646 (GRCm39)	N306S	probably benign	Het
Fcer1a	T	C	1: 173,053,086 (GRCm39)	I37V	possibly damaging	Het
Fgfr2	G	T	7: 129,779,410 (GRCm39)	Q639K	probably benign	Het
Ftdc1	T	A	16: 58,437,230 (GRCm39)	N26I	probably damaging	Het
Gab3	CTT	CTTATT	X: 74,043,591 (GRCm39)		probably null	Het
Gins4	T	C	8: 23,722,626 (GRCm39)	M98V	probably benign	Het
Gm8369	GTGTGTGT	GTGTGTGTTTGTGTGT	19: 11,489,118 (GRCm39)		probably null	Het
Grik1	G	A	16: 87,831,074 (GRCm39)	S232L		Het
Gsg1l	A	G	7: 125,619,794 (GRCm39)		probably null	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
H2-DMb1	A	T	17: 34,376,360 (GRCm39)	S160C	probably damaging	Het
Hsdl2	GCAGCCACAGCTGCAG	GCAGCCACAGCTGCAGCATCAGCCACAGCTGCAG	4: 59,610,643 (GRCm39)		probably benign	Het
Iqcf4	TTTCCTTTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTGTTCCTTTTCCTTTT	9: 106,447,808 (GRCm39)		probably benign	Het
Jag1	T	A	2: 136,938,176 (GRCm39)	T275S	probably benign	Het
Klhdc2	T	A	12: 69,350,660 (GRCm39)	I158K	probably damaging	Het
Krtap28-10	TCCC	TCCCGCACCC	1: 83,019,844 (GRCm39)		probably benign	Het
Lrp2	T	A	2: 69,339,549 (GRCm39)	M1121L	probably benign	Het
M6pr	C	T	6: 122,292,124 (GRCm39)	A152V	probably damaging	Het
Mapkapk5	T	C	5: 121,671,379 (GRCm39)	Y218C	probably damaging	Het
Mkrn1	C	T	6: 39,396,925 (GRCm39)	V26I		Het
Mro	CA	CAAACTCGGA	18: 74,003,035 (GRCm39)		probably null	Het
Mrpl3	T	C	9: 104,952,452 (GRCm39)	V303A	probably benign	Het
Nefh	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,022 (GRCm39)		probably benign	Het
Nefh	TCACCTGGGGACT	TCACCTGGGGACTCGGCCCCACCTGGGGACT	11: 4,891,023 (GRCm39)		probably benign	Het
Nid2	GGCTAACACCGC	GGC	14: 19,801,431 (GRCm39)		probably benign	Het
Nusap1	CAAGCTGAGA	CAAGCTGAGATACACGTTAGCAGTGAGGAGAAAGCTGAGA	2: 119,458,082 (GRCm39)		probably benign	Het
Or10n7-ps1	A	ATAGG	9: 39,598,050 (GRCm39)		probably null	Het
Or6d12	G	T	6: 116,493,004 (GRCm39)	A89S	probably benign	Het
Ovol1	A	G	19: 5,603,640 (GRCm39)	V87A	probably benign	Het
Pdpk1	T	A	17: 24,312,255 (GRCm39)	E290D	probably benign	Het
Pkd1l3	T	A	8: 110,350,174 (GRCm39)	S340T	probably benign	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Pou3f1	GC	GCGGCGCC	4: 124,551,602 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Prpf6	A	G	2: 181,273,869 (GRCm39)	M338V	probably benign	Het
Psg28	G	T	7: 18,156,847 (GRCm39)	L463I	probably damaging	Het
Ptprd	T	C	4: 76,046,892 (GRCm39)	D211G	probably benign	Het
Pus1	T	C	5: 110,924,424 (GRCm39)	H160R	not run	Het
Ranbp17	T	C	11: 33,279,511 (GRCm39)	T582A	probably damaging	Het
Rasa1	G	A	13: 85,371,607 (GRCm39)	T878I	possibly damaging	Het
Rbm20	A	G	19: 53,802,163 (GRCm39)	T224A	probably benign	Het
Scgb1b12	A	T	7: 32,033,920 (GRCm39)	N60I	probably damaging	Het
Sh3bp4	T	C	1: 89,072,744 (GRCm39)	S531P	probably benign	Het
Sh3pxd2b	TGCCTG	TGCCTGCGCCTG	11: 32,373,053 (GRCm39)		probably benign	Het
Snrnp200	T	C	2: 127,072,476 (GRCm39)	L1291P	probably damaging	Het
Spmap2l	CTCCCCAGTCCCGCAAGGCCAG	CTCCCCAGTCCCGCAAGGCCAGCGATCATCCCCAGTCCCGCAAGGCCAG	5: 77,164,255 (GRCm39)		probably benign	Het
Sppl2a	C	T	2: 126,769,694 (GRCm39)	R54Q	probably benign	Het
Sulf2	A	T	2: 165,924,523 (GRCm39)	L521Q	probably benign	Het
Supv3l1	C	A	10: 62,273,287 (GRCm39)	V317F	possibly damaging	Het
Tcof1	TCC	TCCACTTGGCTGCTGAGATGGGCACTTTCCCAGAGACCC	18: 60,966,647 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCCGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
Unc13b	CAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	CAGAGCCAGAGCCAGAGCGAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,347 (GRCm39)		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	AGCCAGAGCCAGAGCCAGCGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC	4: 43,177,350 (GRCm39)		probably benign	Het
Usp38	A	G	8: 81,740,522 (GRCm39)	S182P	probably benign	Het
Vmn2r24	T	C	6: 123,781,174 (GRCm39)	V460A	probably benign	Het
Wdr97	A	T	15: 76,240,172 (GRCm39)	I331F		Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,899,745 (GRCm39)		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
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

Predicted Primers

PCR Primer
(F):5'- TTTTGAATCATTCAGGGGCTCG -3'
(R):5'- TATCTATCCCAGCCGCACTG -3'

Sequencing Primer
(F):5'- CCTAGAGGGGACAGGTCTCAG -3'
(R):5'- CGCTACTGGTCTCTTGCTGG -3'

Posted On

2019-12-04