Mutagenetix > Incidental Mutation

Incidental Mutation 'R9615:Commd9'

724494

Institutional Source

Beutler Lab

Gene Symbol

Commd9

Ensembl Gene

ENSMUSG00000027163

Gene Name

COMM domain containing 9

Synonyms

1810029F08Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9615 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101716607-101731984 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101727436 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 77 (S77P)

Ref Sequence

ENSEMBL: ENSMUSP00000028584 (fasta)

Gene Model

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

AlphaFold

Q8K2Q0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028584
AA Change: S77P

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028584
Gene: ENSMUSG00000027163
AA Change: S77P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	C	5: 138,561,814 (GRCm39)	Q124R	probably damaging	Het
Abca16	T	A	7: 120,126,404 (GRCm39)	F1188I	probably benign	Het
Acat3	G	A	17: 13,147,502 (GRCm39)	Q172*	probably null	Het
Aicda	T	A	6: 122,538,113 (GRCm39)	C90*	probably null	Het
Arhgap39	C	A	15: 76,621,438 (GRCm39)	V388L	probably benign	Het
B020011L13Rik	A	T	1: 117,729,462 (GRCm39)	H323L	probably damaging	Het
Bsn	C	T	9: 107,984,430 (GRCm39)	R436Q		Het
C3	A	T	17: 57,518,669 (GRCm39)	L1238Q	probably damaging	Het
Cert1	C	T	13: 96,767,334 (GRCm39)	H495Y	possibly damaging	Het
Ces1g	A	G	8: 94,061,807 (GRCm39)	V33A	probably damaging	Het
Clstn1	A	G	4: 149,722,757 (GRCm39)	D475G	probably damaging	Het
Cmtm2a	A	G	8: 105,019,286 (GRCm39)	V101A	probably damaging	Het
Cnnm4	A	G	1: 36,511,893 (GRCm39)	M374V	probably damaging	Het
Cox7a2l	A	G	17: 83,821,701 (GRCm39)	Y2H	possibly damaging	Het
Cramp1	C	A	17: 25,201,783 (GRCm39)	K566N	probably damaging	Het
Cubn	G	A	2: 13,325,991 (GRCm39)	H2725Y	possibly damaging	Het
Cyp2c39	T	C	19: 39,501,617 (GRCm39)	F57L	probably benign	Het
Dgkh	A	T	14: 78,813,370 (GRCm39)	V1036D	possibly damaging	Het
Dip2c	G	A	13: 9,625,191 (GRCm39)	V562I	probably benign	Het
Fat3	T	C	9: 16,289,343 (GRCm39)	Q60R	probably benign	Het
Gm1527	A	G	3: 28,969,475 (GRCm39)	D275G	probably damaging	Het
Gp5	A	C	16: 30,128,393 (GRCm39)	F94V	probably damaging	Het
Grik4	T	A	9: 42,502,765 (GRCm39)	K453*	probably null	Het
Hdlbp	T	C	1: 93,358,014 (GRCm39)	T296A	probably benign	Het
Hrh4	C	A	18: 13,154,944 (GRCm39)	T161K	probably benign	Het
Ift74	A	T	4: 94,550,822 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,292,192 (GRCm39)	Y71N	probably benign	Het
Klhl42	T	C	6: 147,009,373 (GRCm39)	L404P	probably damaging	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lipe	T	A	7: 25,097,326 (GRCm39)	K206*	probably null	Het
Lipo3	T	C	19: 33,754,047 (GRCm39)	I363V	probably benign	Het
Mrgpra6	T	A	7: 46,835,675 (GRCm39)	I249F	probably benign	Het
Myo15a	A	T	11: 60,374,320 (GRCm39)	N125I		Het
Nbr1	T	A	11: 101,465,978 (GRCm39)	I753N	probably benign	Het
Ndor1	T	C	2: 25,138,434 (GRCm39)	D451G	probably benign	Het
Nlrp5	C	T	7: 23,107,561 (GRCm39)	T78I	probably benign	Het
Or10j3b	A	T	1: 173,044,034 (GRCm39)	E272V	possibly damaging	Het
Or51ag1	C	T	7: 103,155,727 (GRCm39)	R142H	probably benign	Het
Prom1	A	G	5: 44,164,399 (GRCm39)	F728S	probably damaging	Het
Ptgs2	T	A	1: 149,980,802 (GRCm39)	F456Y	probably damaging	Het
Rtl1	G	A	12: 109,556,835 (GRCm39)	A1668V	possibly damaging	Het
Runx2	A	T	17: 44,969,560 (GRCm39)	D310E	probably benign	Het
Samd4b	A	T	7: 28,106,714 (GRCm39)	I349K	probably damaging	Het
Scn10a	A	G	9: 119,487,504 (GRCm39)	M610T	possibly damaging	Het
Sec61b	A	G	4: 47,483,056 (GRCm39)	I105V	probably benign	Het
Semp2l2b	T	C	10: 21,943,611 (GRCm39)	E123G	probably benign	Het
Slc35f4	A	G	14: 49,556,306 (GRCm39)	V149A	probably benign	Het
Smndc1	T	A	19: 53,368,951 (GRCm39)	M221L	probably damaging	Het
Ssh2	A	G	11: 77,316,203 (GRCm39)	N275D	possibly damaging	Het
Tas2r124	C	T	6: 132,732,492 (GRCm39)	T267I	probably benign	Het
Thra	G	A	11: 98,651,715 (GRCm39)	R79H	probably damaging	Het
Tie1	T	C	4: 118,347,032 (GRCm39)		probably benign	Het
Umodl1	A	C	17: 31,217,152 (GRCm39)	Q1128P	possibly damaging	Het
Vps35	G	A	8: 86,010,633 (GRCm39)	R237C	probably benign	Het
Zfp78	T	A	7: 6,382,074 (GRCm39)	C343S	probably damaging	Het
Zfp85	A	G	13: 67,897,326 (GRCm39)	Y249H	probably damaging	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
R5289:Commd9	UTSW	2	101,729,239 (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

Predicted Primers

PCR Primer
(F):5'- TCAGCATGTGTTACGGAGGC -3'
(R):5'- AGGCAATTAAGCTCTGGGTG -3'

Sequencing Primer
(F):5'- CCACACTGCAGTTAACTCATTAATG -3'
(R):5'- TTACAGTATGCACTTTCAAGCAC -3'

Posted On

2022-09-12