Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02469:Commd6'

294656

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Commd6

Ensembl Gene

ENSMUSG00000075486

Gene Name

COMM domain containing 6

Synonyms

1110059J08Rik, 1700063H17Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.136) question?

Stock #

IGL02469

Quality Score

Status

Chromosome

Chromosomal Location

101871202-101877907 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101874463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 47 (V47A)

Ref Sequence

ENSEMBL: ENSMUSP00000097912 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100339] [ENSMUST00000168587]

AlphaFold

Q3V4B5

Predicted Effect

probably damaging
Transcript: ENSMUST00000100339
AA Change: V47A

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

SMART Domains

Protein: ENSMUSP00000097912
Gene: ENSMUSG00000075486
AA Change: V47A

Domain	Start	End	E-Value	Type
Pfam:HCaRG	7	86	6.4e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131022

Predicted Effect

possibly damaging
Transcript: ENSMUST00000168587
AA Change: V43A

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131634
Gene: ENSMUSG00000075486
AA Change: V43A

Domain	Start	End	E-Value	Type
Pfam:HCaRG	5	83	3.3e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227868

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	T	6: 121,645,074 (GRCm39)	Q975L	probably damaging	Het
Acad10	T	C	5: 121,783,522 (GRCm39)	Y301C	probably damaging	Het
Akr7a5	T	A	4: 139,041,492 (GRCm39)	S134T	probably damaging	Het
Aldh4a1	C	T	4: 139,375,472 (GRCm39)	T527I	probably damaging	Het
Atf2	A	G	2: 73,676,676 (GRCm39)	V146A	probably damaging	Het
C2cd6	A	T	1: 59,036,640 (GRCm39)		probably benign	Het
Caml	T	C	13: 55,776,390 (GRCm39)	S210P	probably damaging	Het
Casp1	A	C	9: 5,303,105 (GRCm39)	R186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cdhr1	T	A	14: 36,807,557 (GRCm39)	Q361L	possibly damaging	Het
Chrna3	T	A	9: 54,923,290 (GRCm39)	T173S	probably benign	Het
Dmrtc2	T	C	7: 24,572,138 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,863,215 (GRCm39)	D721G	probably damaging	Het
Dpp10	T	C	1: 123,339,532 (GRCm39)	S332G	probably benign	Het
Dst	A	G	1: 34,227,909 (GRCm39)	E1834G	probably damaging	Het
Espl1	T	A	15: 102,222,460 (GRCm39)	L1034Q	probably damaging	Het
Gtf2ird2	C	T	5: 134,220,088 (GRCm39)	T22M	probably damaging	Het
Hyal2	T	C	9: 107,449,411 (GRCm39)	L389P	probably damaging	Het
Lipa	T	C	19: 34,471,435 (GRCm39)	D380G	probably damaging	Het
Marchf5	T	G	19: 37,194,674 (GRCm39)	W111G	probably damaging	Het
Or8h7	T	C	2: 86,721,499 (GRCm39)	T7A	possibly damaging	Het
Pfkfb2	A	T	1: 130,627,774 (GRCm39)	I391N	probably damaging	Het
Sec31a	T	C	5: 100,533,114 (GRCm39)	S544G	probably benign	Het
Slc26a9	A	G	1: 131,690,674 (GRCm39)	K530E	probably damaging	Het
Spaca3	G	A	11: 80,754,911 (GRCm39)		probably null	Het
Syne3	T	C	12: 104,920,565 (GRCm39)	S544G	probably benign	Het
Tctn3	T	C	19: 40,585,967 (GRCm39)	E526G	probably benign	Het
Tll1	A	T	8: 64,523,314 (GRCm39)	I466K	probably benign	Het
Ttbk1	A	G	17: 46,781,556 (GRCm39)	V399A	possibly damaging	Het
Vmn1r47	T	C	6: 89,999,435 (GRCm39)	L189P	probably damaging	Het
Vmn2r100	T	A	17: 19,751,547 (GRCm39)	L530*	probably null	Het
Yipf3	T	C	17: 46,561,384 (GRCm39)		probably null	Het

Other mutations in Commd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01324:Commd6	APN	14	101,877,738 (GRCm39)	intron	probably benign
IGL03405:Commd6	APN	14	101,874,508 (GRCm39)	missense	probably damaging	1.00
R0008:Commd6	UTSW	14	101,877,709 (GRCm39)	intron	probably benign
R4676:Commd6	UTSW	14	101,877,720 (GRCm39)	intron	probably benign
R6689:Commd6	UTSW	14	101,877,895 (GRCm39)	unclassified	probably benign
R6841:Commd6	UTSW	14	101,874,534 (GRCm39)	missense	probably damaging	1.00
R6875:Commd6	UTSW	14	101,871,786 (GRCm39)	missense	probably damaging	0.98
R6983:Commd6	UTSW	14	101,874,488 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16