Mutagenetix > Incidental Mutation

Incidental Mutation 'R8041:Comtd1'

618543

Institutional Source

Beutler Lab

Gene Symbol

Comtd1

Ensembl Gene

ENSMUSG00000021773

Gene Name

catechol-O-methyltransferase domain containing 1

Synonyms

MT773, 1810030M08Rik

MMRRC Submission

067478-MU

Accession Numbers

Essential gene?

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

Stock #

R8041 (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 21897985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 153 (E153V)

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: E153V

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000119330
Gene: ENSMUSG00000021773
AA Change: E153V

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
AA Change: E91V

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000134830
Gene: ENSMUSG00000021773
AA Change: E91V

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: 99.8%
20x: 99.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l1	A	T	18: 61,891,754 (GRCm39)	L21Q	probably damaging	Het
Ago1	G	A	4: 126,335,729 (GRCm39)	R661C	probably damaging	Het
Albfm1	T	A	5: 90,740,864 (GRCm39)		probably null	Het
Aoc3	T	C	11: 101,223,132 (GRCm39)	V456A	probably benign	Het
Aopep	G	C	13: 63,180,921 (GRCm39)	W294C	probably damaging	Het
Cacna1b	A	T	2: 24,547,311 (GRCm39)	F1223L	probably damaging	Het
Ccdc40	T	C	11: 119,122,507 (GRCm39)	F33S	possibly damaging	Het
Ccnjl	T	C	11: 43,470,538 (GRCm39)	V102A	probably damaging	Het
Cd48	T	C	1: 171,526,958 (GRCm39)	V128A	probably damaging	Het
Cmah	A	G	13: 24,652,601 (GRCm39)	D577G	probably benign	Het
Cnnm4	A	G	1: 36,511,174 (GRCm39)	K134R	probably benign	Het
Cntnap5a	T	A	1: 116,187,209 (GRCm39)	Y594N	probably damaging	Het
Col14a1	A	G	15: 55,318,626 (GRCm39)	E1375G	unknown	Het
Dchs1	T	A	7: 105,404,395 (GRCm39)	T2716S	probably benign	Het
Ddx4	A	T	13: 112,762,928 (GRCm39)	S143T	probably benign	Het
Dlg1	A	G	16: 31,656,885 (GRCm39)	D593G	possibly damaging	Het
Dok6	A	G	18: 89,578,213 (GRCm39)	I68T	possibly damaging	Het
Dpysl5	A	G	5: 30,953,658 (GRCm39)	I563V	probably benign	Het
Eapp	A	G	12: 54,739,650 (GRCm39)	S56P	probably damaging	Het
Efcab3	T	G	11: 104,810,305 (GRCm39)	D3147E	unknown	Het
Fgd5	A	T	6: 92,038,837 (GRCm39)	D1157V	probably damaging	Het
Fmn1	T	A	2: 113,194,939 (GRCm39)	L213Q	unknown	Het
Foxo1	T	A	3: 52,253,044 (GRCm39)	Y402*	probably null	Het
Fyb2	C	A	4: 104,857,681 (GRCm39)	F619L	possibly damaging	Het
Gtf2i	A	T	5: 134,322,599 (GRCm39)		probably null	Het
Hrh1	G	A	6: 114,456,878 (GRCm39)	R53H	not run	Het
Hydin	A	T	8: 111,301,626 (GRCm39)	M3786L	probably benign	Het
Ifi207	T	C	1: 173,555,268 (GRCm39)	R805G	possibly damaging	Het
Igfn1	C	A	1: 135,895,797 (GRCm39)	G1590*	probably null	Het
Jph3	A	C	8: 122,516,201 (GRCm39)	I740L	probably benign	Het
Kbtbd7	T	A	14: 79,666,144 (GRCm39)	F659I	probably benign	Het
Kcns2	A	T	15: 34,839,291 (GRCm39)	Q218L	probably benign	Het
Kcnt2	A	G	1: 140,537,398 (GRCm39)	N1119S	probably benign	Het
Krit1	A	T	5: 3,857,309 (GRCm39)	H38L	probably benign	Het
Krt20	T	A	11: 99,328,663 (GRCm39)	R87S	probably damaging	Het
Ly6g5c	A	G	17: 35,330,808 (GRCm39)	E110G	probably damaging	Het
Mamdc4	A	G	2: 25,454,707 (GRCm39)	F1035S	probably damaging	Het
Mmp13	A	T	9: 7,280,865 (GRCm39)	D416V	probably benign	Het
Nadk	G	T	4: 155,661,524 (GRCm39)	D17Y	probably benign	Het
Nrap	A	T	19: 56,352,768 (GRCm39)	L566*	probably null	Het
Or12d17	T	C	17: 37,777,540 (GRCm39)	F148L	probably benign	Het
Or4b12	A	T	2: 90,096,488 (GRCm39)	C95*	probably null	Het
Or51ai2	T	C	7: 103,586,788 (GRCm39)	L67P	probably damaging	Het
Or5p69	T	C	7: 107,966,741 (GRCm39)	F15L	probably damaging	Het
Pcdhb19	T	C	18: 37,630,367 (GRCm39)	L54P	possibly damaging	Het
Pitpnm2	A	G	5: 124,259,519 (GRCm39)	F1272S	probably damaging	Het
Pml	C	A	9: 58,141,968 (GRCm39)	R288L	probably benign	Het
Reep4	T	C	14: 70,785,627 (GRCm39)	Y186H	probably benign	Het
Rpgrip1	A	G	14: 52,356,702 (GRCm39)	T89A	possibly damaging	Het
Shc1	T	C	3: 89,330,260 (GRCm39)	S175P	probably damaging	Het
Sipa1l3	A	G	7: 29,063,645 (GRCm39)	S1156P	probably damaging	Het
Slc1a3	G	A	15: 8,665,683 (GRCm39)	P522L	probably benign	Het
Slc6a17	T	A	3: 107,381,744 (GRCm39)	T446S	probably damaging	Het
Tas1r2	A	T	4: 139,387,290 (GRCm39)	N250Y	possibly damaging	Het
Tex15	G	T	8: 34,065,874 (GRCm39)	R1768L	probably damaging	Het
Ttll9	G	C	2: 152,844,956 (GRCm39)	Q441H	possibly damaging	Het
Unc5c	T	A	3: 141,171,545 (GRCm39)	V24E	possibly damaging	Het
Unc79	A	G	12: 103,054,726 (GRCm39)	E888G	probably benign	Het
Vmn2r19	T	C	6: 123,312,750 (GRCm39)	S607P	possibly damaging	Het
Vsig1	C	T	X: 139,833,875 (GRCm39)	H232Y	probably benign	Het
Wdfy4	A	G	14: 32,875,965 (GRCm39)		probably null	Het
Zbtb49	T	C	5: 38,358,198 (GRCm39)	D685G	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
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'- CATCTTAACAGGGACAGAGGGC -3'
(R):5'- AACTGAGCTTGACAGTGTCC -3'

Sequencing Primer
(F):5'- TTAACAGGGACAGAGGGCATGTG -3'
(R):5'- ACAGGTACTTTCACGGGCTAC -3'

Posted On

2020-01-23