Mutagenetix > Incidental Mutation

Incidental Mutation 'R1220:Commd10'

100036

Institutional Source

Beutler Lab

Gene Symbol

Commd10

Ensembl Gene

ENSMUSG00000042705

Gene Name

COMM domain containing 10

Synonyms

2310003A05Rik, DRWMS2

MMRRC Submission

039289-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1220 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

47091917-47242435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 47220107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 195 (Q195K)

Ref Sequence

ENSEMBL: ENSMUSP00000041650 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049388]

AlphaFold

Q8JZY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049388
AA Change: Q195K

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041650
Gene: ENSMUSG00000042705
AA Change: Q195K

Domain	Start	End	E-Value	Type
Pfam:HCaRG	21	200	6.8e-39	PFAM

Meta Mutation Damage Score

0.1723

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	A	7: 119,257,537 (GRCm39)	S407R	probably benign	Het
Add2	A	T	6: 86,063,982 (GRCm39)	M94L	possibly damaging	Het
Anks6	A	T	4: 47,025,767 (GRCm39)		probably benign	Het
Atxn1	A	G	13: 45,710,899 (GRCm39)	S678P	probably benign	Het
Ccnc	A	G	4: 21,732,491 (GRCm39)	Y76C	probably damaging	Het
Col1a1	G	T	11: 94,841,957 (GRCm39)	A1335S	unknown	Het
Col25a1	G	T	3: 130,182,574 (GRCm39)		probably benign	Het
Cps1	G	A	1: 67,243,862 (GRCm39)		probably null	Het
Cramp1	A	T	17: 25,201,211 (GRCm39)	V757D	probably damaging	Het
Cttn	T	C	7: 144,017,699 (GRCm39)	T13A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,189,493 (GRCm39)		probably benign	Het
Exoc3l2	T	A	7: 19,225,709 (GRCm39)		probably benign	Het
Fam118b	T	C	9: 35,134,969 (GRCm39)	S213G	possibly damaging	Het
Katnal1	G	A	5: 148,831,061 (GRCm39)	A171V	probably benign	Het
Lrig3	A	G	10: 125,832,945 (GRCm39)	N273S	probably damaging	Het
Lrriq1	G	A	10: 102,906,990 (GRCm39)	R1577W	probably benign	Het
Or1e26	A	C	11: 73,480,203 (GRCm39)	Y120*	probably null	Het
Or5p70	T	A	7: 107,994,539 (GRCm39)	S71T	probably benign	Het
Pmel	A	G	10: 128,549,929 (GRCm39)	D30G	probably benign	Het
Ppp1r15a	T	C	7: 45,173,293 (GRCm39)	Y505C	probably damaging	Het
Prpf40b	C	T	15: 99,214,229 (GRCm39)	R830C	probably benign	Het
Rabgap1l	A	T	1: 160,566,479 (GRCm39)	D106E	probably damaging	Het
Rad18	C	A	6: 112,626,625 (GRCm39)	E141*	probably null	Het
Ros1	C	T	10: 51,974,966 (GRCm39)	V1540M	probably damaging	Het
Secisbp2	G	A	13: 51,810,941 (GRCm39)	R201H	probably damaging	Het
Shisa6	A	G	11: 66,110,836 (GRCm39)	S302P	probably damaging	Het
Slamf9	C	A	1: 172,304,898 (GRCm39)	Q171K	probably benign	Het
Sox6	T	A	7: 115,261,677 (GRCm39)	T180S	probably damaging	Het
Ttn	T	C	2: 76,553,998 (GRCm39)	S30902G	possibly damaging	Het
Xirp1	A	G	9: 119,846,982 (GRCm39)	F634L	possibly damaging	Het
Yrdc	T	A	4: 124,748,329 (GRCm39)	S278T	possibly damaging	Het

Other mutations in Commd10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01591:Commd10	APN	18	47,096,735 (GRCm39)	missense	probably benign
IGL03162:Commd10	APN	18	47,220,117 (GRCm39)	missense	probably damaging	1.00
R0045:Commd10	UTSW	18	47,100,903 (GRCm39)	missense	possibly damaging	0.52
R1735:Commd10	UTSW	18	47,123,552 (GRCm39)	missense	probably benign	0.18
R2049:Commd10	UTSW	18	47,096,814 (GRCm39)	missense	probably benign	0.03
R2135:Commd10	UTSW	18	47,123,604 (GRCm39)	missense	possibly damaging	0.70
R5330:Commd10	UTSW	18	47,093,497 (GRCm39)	missense	probably damaging	0.96
R5331:Commd10	UTSW	18	47,093,497 (GRCm39)	missense	probably damaging	0.96
R6250:Commd10	UTSW	18	47,096,755 (GRCm39)	missense	probably damaging	1.00
R7663:Commd10	UTSW	18	47,219,323 (GRCm39)	missense	probably benign
R7994:Commd10	UTSW	18	47,091,986 (GRCm39)	missense	possibly damaging	0.51
R8782:Commd10	UTSW	18	47,096,809 (GRCm39)	missense	probably damaging	1.00
Z1176:Commd10	UTSW	18	47,123,633 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGCTTGACTGTTACTGTTGTGCC -3'
(R):5'- CCCTGATCCCTGAAAGCAATCTGAC -3'

Sequencing Primer
(F):5'- TGCCGTGTTATGCTGAGC -3'
(R):5'- ggagtgggagggttggg -3'

Posted On

2014-01-15