Mutagenetix > Incidental Mutation

Incidental Mutation 'R5289:Commd9'

424569

Institutional Source

Beutler Lab

Gene Symbol

Commd9

Ensembl Gene

ENSMUSG00000027163

Gene Name

COMM domain containing 9

Synonyms

1810029F08Rik

MMRRC Submission

042872-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5289 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

101716607-101731984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101729239 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 115 (A115V)

Ref Sequence

ENSEMBL: ENSMUSP00000028584 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028584]

AlphaFold

Q8K2Q0

Predicted Effect

probably benign
Transcript: ENSMUST00000028584
AA Change: A115V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000028584
Gene: ENSMUSG00000027163
AA Change: A115V

Domain	Start	End	E-Value	Type
Pfam:HCaRG	15	194	9e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133576

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156799

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality, neural tube edema, and cardiovascular abnormalities including hemorrhages, heart hypoplasia, focal myocardial wall necrosis and narrowing of the dorsal aortas, and alterations in cranial blood vessels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,669,203 (GRCm39)	V1731A	probably benign	Het
Ahcyl1	A	G	3: 107,577,206 (GRCm39)		probably null	Het
Aox1	T	A	1: 58,131,717 (GRCm39)	M1042K	probably damaging	Het
Atp10d	C	A	5: 72,412,466 (GRCm39)	Q590K	probably benign	Het
Atp8b1	G	T	18: 64,679,158 (GRCm39)	N774K	possibly damaging	Het
Atrnl1	C	T	19: 57,645,514 (GRCm39)	T458M	probably damaging	Het
Bltp1	C	A	3: 37,054,258 (GRCm39)	Q3126K	probably damaging	Het
Cnr1	T	A	4: 33,943,910 (GRCm39)	C99*	probably null	Het
Cnr2	A	G	4: 135,644,318 (GRCm39)	Y132C	probably damaging	Het
Diaph3	A	G	14: 87,219,114 (GRCm39)	F426S	probably damaging	Het
Diras1	G	A	10: 80,858,078 (GRCm39)	Q58*	probably null	Het
Dnaaf6rt	A	T	1: 31,262,608 (GRCm39)	I197F	probably benign	Het
Dpy19l2	A	G	9: 24,607,293 (GRCm39)	L56P	probably benign	Het
Dsc1	A	T	18: 20,234,910 (GRCm39)	V248D	possibly damaging	Het
Frem3	A	G	8: 81,338,948 (GRCm39)	M414V	probably benign	Het
Frmd4b	G	T	6: 97,279,309 (GRCm39)		probably null	Het
Gabarapl2	T	C	8: 112,669,227 (GRCm39)	W62R	probably damaging	Het
Glt1d1	A	G	5: 127,721,420 (GRCm39)	R36G	probably benign	Het
Grb10	T	C	11: 11,894,924 (GRCm39)		silent	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hc	A	G	2: 34,886,026 (GRCm39)		probably null	Het
Hgd	A	G	16: 37,448,913 (GRCm39)	E379G	possibly damaging	Het
Ifi30	A	T	8: 71,219,245 (GRCm39)		probably benign	Het
Iqgap1	T	C	7: 80,388,472 (GRCm39)	I842V	possibly damaging	Het
Iqsec3	T	A	6: 121,363,659 (GRCm39)		probably null	Het
Kalrn	A	G	16: 34,072,711 (GRCm39)	S724P	possibly damaging	Het
Lama2	C	A	10: 27,088,069 (GRCm39)	G903*	probably null	Het
Lrrc10	T	C	10: 116,881,392 (GRCm39)	V22A	probably benign	Het
Lzts3	T	C	2: 130,478,021 (GRCm39)	E245G	probably benign	Het
Man2a1	A	G	17: 64,958,222 (GRCm39)	T246A	probably damaging	Het
Mfsd13a	A	G	19: 46,356,719 (GRCm39)	E240G	probably benign	Het
Mtor	T	C	4: 148,550,549 (GRCm39)	I735T	possibly damaging	Het
Naa15	A	T	3: 51,363,315 (GRCm39)	H333L	probably damaging	Het
Nes	C	A	3: 87,885,725 (GRCm39)	T1284K	probably damaging	Het
Nexn	T	G	3: 151,953,709 (GRCm39)	H173P	probably benign	Het
Nid2	T	C	14: 19,855,379 (GRCm39)	V1173A	possibly damaging	Het
Npepps	A	G	11: 97,131,753 (GRCm39)		probably null	Het
Pgm1	T	A	4: 99,824,266 (GRCm39)	M313K	probably damaging	Het
Plag1	T	A	4: 3,905,545 (GRCm39)	K48N	probably damaging	Het
Prok1	G	C	3: 107,146,935 (GRCm39)	L11V	probably benign	Het
Ptpn9	T	C	9: 56,967,347 (GRCm39)		probably null	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Slc38a4	A	T	15: 96,908,229 (GRCm39)	F171I	possibly damaging	Het
Sycp1	A	T	3: 102,841,569 (GRCm39)	N78K	possibly damaging	Het
Tas2r110	T	C	6: 132,844,972 (GRCm39)	M1T	probably null	Het
Thoc2l	G	A	5: 104,667,523 (GRCm39)	V682I	probably benign	Het
Tmem260	G	A	14: 48,724,267 (GRCm39)	V182M	possibly damaging	Het
Tmem30a	A	T	9: 79,683,436 (GRCm39)	N144K	probably damaging	Het
Vmn2r108	A	G	17: 20,691,866 (GRCm39)	L219P	probably damaging	Het
Vmn2r57	A	G	7: 41,049,398 (GRCm39)	S784P	probably damaging	Het
Vwf	T	C	6: 125,644,473 (GRCm39)		probably benign	Het
Wdr62	A	C	7: 29,967,300 (GRCm39)	V318G	probably damaging	Het
Zfp398	T	A	6: 47,840,115 (GRCm39)	S115T	probably benign	Het
Zfp62	T	A	11: 49,107,975 (GRCm39)	C689S	probably damaging	Het
Zmynd15	C	G	11: 70,356,830 (GRCm39)	P580R	unknown	Het

Other mutations in Commd9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00475:Commd9	APN	2	101,725,501 (GRCm39)	nonsense	probably null
IGL02232:Commd9	APN	2	101,731,324 (GRCm39)	missense	probably benign	0.34
IGL03109:Commd9	APN	2	101,727,515 (GRCm39)	missense	probably benign
R1873:Commd9	UTSW	2	101,727,502 (GRCm39)	missense	probably benign	0.09
R1933:Commd9	UTSW	2	101,731,376 (GRCm39)	missense	probably damaging	1.00
R3826:Commd9	UTSW	2	101,727,486 (GRCm39)	missense	probably benign	0.18
R3828:Commd9	UTSW	2	101,727,486 (GRCm39)	missense	probably benign	0.18
R3829:Commd9	UTSW	2	101,727,486 (GRCm39)	missense	probably benign	0.18
R3968:Commd9	UTSW	2	101,727,486 (GRCm39)	missense	probably benign	0.18
R3969:Commd9	UTSW	2	101,727,486 (GRCm39)	missense	probably benign	0.18
R3970:Commd9	UTSW	2	101,727,486 (GRCm39)	missense	probably benign	0.18
R4059:Commd9	UTSW	2	101,725,499 (GRCm39)	missense	possibly damaging	0.93
R4795:Commd9	UTSW	2	101,729,241 (GRCm39)	missense	probably benign	0.00
R5426:Commd9	UTSW	2	101,729,220 (GRCm39)	missense	probably damaging	1.00
R5437:Commd9	UTSW	2	101,731,373 (GRCm39)	missense	probably damaging	1.00
R7209:Commd9	UTSW	2	101,725,483 (GRCm39)	missense	possibly damaging	0.94
R7425:Commd9	UTSW	2	101,730,245 (GRCm39)	nonsense	probably null
R7552:Commd9	UTSW	2	101,731,410 (GRCm39)	missense	probably damaging	1.00
R9615:Commd9	UTSW	2	101,727,436 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- TGTCTTTGAGACCAGTAGCAC -3'
(R):5'- ACTCGGGTGTTTCTGCATTC -3'

Sequencing Primer
(F):5'- ACAGATTGAACTTGGGCTCC -3'
(R):5'- CATCAATAGTAACAGTAGTAGTGGTG -3'

Posted On

2016-08-04