Mutagenetix > Incidental Mutation

Incidental Mutation 'R7770:Commd8'

598521

Institutional Source

Beutler Lab

Gene Symbol

Commd8

Ensembl Gene

ENSMUSG00000029213

Gene Name

COMM domain containing 8

Synonyms

D5Buc26e, IMAGE:1958590

MMRRC Submission

045826-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.444) question?

Stock #

R7770 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72313919-72325532 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72317223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 182 (L182S)

Ref Sequence

ENSEMBL: ENSMUSP00000013693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000013693] [ENSMUST00000196241] [ENSMUST00000199767]

AlphaFold

Q9CZG3

Predicted Effect

probably damaging
Transcript: ENSMUST00000013693
AA Change: L182S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000013693
Gene: ENSMUSG00000029213
AA Change: L182S

Domain	Start	End	E-Value	Type
Pfam:HCaRG	11	181	2.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000196241

SMART Domains

Protein: ENSMUSP00000142937
Gene: ENSMUSG00000029213

Domain	Start	End	E-Value	Type
Pfam:HCaRG	13	107	4.7e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000199767

SMART Domains

Protein: ENSMUSP00000143790
Gene: ENSMUSG00000029213

Domain	Start	End	E-Value	Type
Blast:Tryp_SPc	23	46	2e-7	BLAST

Meta Mutation Damage Score

0.5829

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (55/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds coiled-coil domain-containing protein 22 (CCDC22), and this complex can regulate the turnover of I-kappa-B and the activation of NF-kappa-B. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,894 (GRCm39)	V160E	probably damaging	Het
Abhd8	C	T	8: 71,910,894 (GRCm39)	G305S	probably benign	Het
Adamts20	A	G	15: 94,231,579 (GRCm39)	V870A	probably benign	Het
Agl	A	G	3: 116,551,886 (GRCm39)		probably null	Het
Cav3	A	T	6: 112,449,147 (GRCm39)	D55V	probably damaging	Het
Ccser2	T	A	14: 36,648,831 (GRCm39)	D556V	probably damaging	Het
Cdc20b	T	C	13: 113,215,193 (GRCm39)	Y254H	probably benign	Het
Cyp1b1	G	A	17: 80,020,728 (GRCm39)	A338V	probably damaging	Het
Def8	C	A	8: 124,186,798 (GRCm39)	D459E	unknown	Het
Dennd5b	T	C	6: 148,943,214 (GRCm39)	Y554C	probably damaging	Het
Dnah7c	A	T	1: 46,665,460 (GRCm39)		probably null	Het
Dnajc5b	T	A	3: 19,633,181 (GRCm39)	C135S	probably benign	Het
Dnpep	G	A	1: 75,293,890 (GRCm39)		probably benign	Het
Drc1	C	T	5: 30,507,856 (GRCm39)	Q293*	probably null	Het
Glmp	A	G	3: 88,233,077 (GRCm39)	S72G	probably benign	Het
Gm5431	A	T	11: 48,779,285 (GRCm39)	S546T	probably benign	Het
Gnptab	T	A	10: 88,247,782 (GRCm39)	C70S	probably benign	Het
Gpr83	G	A	9: 14,778,170 (GRCm39)	R180Q	probably damaging	Het
Gucy1a1	A	T	3: 82,016,112 (GRCm39)	L292Q	possibly damaging	Het
Gzmd	T	C	14: 56,368,720 (GRCm39)	D58G	probably damaging	Het
Hoxa10	A	G	6: 52,211,245 (GRCm39)	S224P	possibly damaging	Het
Hoxa13	G	A	6: 52,237,247 (GRCm39)		probably benign	Het
Igsf6	A	G	7: 120,667,548 (GRCm39)	V156A	probably benign	Het
Il6st	A	T	13: 112,639,338 (GRCm39)	I649F	probably damaging	Het
Kcnh3	G	A	15: 99,131,147 (GRCm39)	V507M	probably damaging	Het
Lgr5	A	G	10: 115,307,899 (GRCm39)	I253T	probably damaging	Het
Met	T	A	6: 17,491,406 (GRCm39)	V56D	possibly damaging	Het
Mettl22	A	T	16: 8,303,764 (GRCm39)	I277F	possibly damaging	Het
Nadsyn1	G	A	7: 143,359,740 (GRCm39)	R411W	probably damaging	Het
Nrros	T	G	16: 31,962,346 (GRCm39)	E557A	probably benign	Het
Or10ak14	A	T	4: 118,611,254 (GRCm39)	H162Q	probably benign	Het
Or5w1	T	C	2: 87,486,813 (GRCm39)	I151V	not run	Het
Or8j3b	C	T	2: 86,205,604 (GRCm39)	V51M	possibly damaging	Het
Pih1d2	G	A	9: 50,533,101 (GRCm39)	R243Q	not run	Het
Polr1b	C	A	2: 128,967,464 (GRCm39)	F952L	probably damaging	Het
Ppp1r3a	A	G	6: 14,754,977 (GRCm39)	V90A	probably benign	Het
Prmt9	T	A	8: 78,285,814 (GRCm39)		probably null	Het
Rapgef4	T	A	2: 72,028,739 (GRCm39)	N385K	possibly damaging	Het
Rbm28	G	A	6: 29,164,627 (GRCm39)		probably benign	Het
Rhobtb3	A	T	13: 76,065,934 (GRCm39)	S150T	probably damaging	Het
Serpinb6b	T	C	13: 33,161,512 (GRCm39)	V195A	probably benign	Het
Sesn1	T	A	10: 41,770,054 (GRCm39)	I99N	probably damaging	Het
Setd1b	G	A	5: 123,296,815 (GRCm39)		probably benign	Het
Slc22a19	T	A	19: 7,681,360 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,640,123 (GRCm39)	I305T	probably damaging	Het
Smg6	T	A	11: 74,884,687 (GRCm39)	N3K	unknown	Het
Spta1	C	A	1: 174,023,547 (GRCm39)	Y651*	probably null	Het
Tatdn3	G	A	1: 190,791,053 (GRCm39)	P74S	probably benign	Het
Tet2	C	T	3: 133,186,056 (GRCm39)	R1127Q	possibly damaging	Het
Tgfbi	T	A	13: 56,780,657 (GRCm39)		probably null	Het
Tmprss9	A	G	10: 80,733,903 (GRCm39)		probably null	Het
Tox4	T	C	14: 52,517,299 (GRCm39)	Y10H	probably damaging	Het
Trappc10	A	T	10: 78,046,679 (GRCm39)	S407T	probably damaging	Het
Vmn2r59	A	G	7: 41,708,336 (GRCm39)	C24R	probably damaging	Het
Wdr24	C	A	17: 26,046,070 (GRCm39)	A465D	probably benign	Het
Wfdc8	A	G	2: 164,439,594 (GRCm39)	S263P	unknown	Het
Zc3h15	T	A	2: 83,488,476 (GRCm39)	I138N	possibly damaging	Het

Other mutations in Commd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01511:Commd8	APN	5	72,322,722 (GRCm39)	missense	probably benign	0.14
R1978:Commd8	UTSW	5	72,322,842 (GRCm39)	missense	probably damaging	1.00
R2266:Commd8	UTSW	5	72,322,765 (GRCm39)	missense	probably damaging	0.99
R2267:Commd8	UTSW	5	72,322,765 (GRCm39)	missense	probably damaging	0.99
R2268:Commd8	UTSW	5	72,322,765 (GRCm39)	missense	probably damaging	0.99
R2269:Commd8	UTSW	5	72,322,765 (GRCm39)	missense	probably damaging	0.99
R5881:Commd8	UTSW	5	72,320,107 (GRCm39)	missense	probably benign	0.00
R7707:Commd8	UTSW	5	72,320,081 (GRCm39)	missense	probably damaging	0.98
R8129:Commd8	UTSW	5	72,320,164 (GRCm39)	missense	unknown
R8884:Commd8	UTSW	5	72,325,514 (GRCm39)	unclassified	probably benign
R9072:Commd8	UTSW	5	72,318,327 (GRCm39)	frame shift	probably null
R9073:Commd8	UTSW	5	72,318,327 (GRCm39)	frame shift	probably null
R9479:Commd8	UTSW	5	72,318,350 (GRCm39)	missense	probably benign	0.01
R9723:Commd8	UTSW	5	72,318,309 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- ATGCAATTTCCTGTCCCTTAGGG -3'
(R):5'- ACTTGTAGTCGAAGCCTGGTG -3'

Sequencing Primer
(F):5'- AGGGTTTCTGACGGATTTCCATCTC -3'
(R):5'- AGAGCCTGGACTGGGTG -3'

Posted On

2019-11-26