Mutagenetix > Incidental Mutation

Incidental Mutation 'R3763:Commd1'

270602

Institutional Source

Beutler Lab

Gene Symbol

Commd1

Ensembl Gene

ENSMUSG00000051355

Gene Name

COMM domain containing 1

Synonyms

Murr1

MMRRC Submission

040873-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3763 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22849728-22934539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 22924102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 292 (F292Y)

Ref Sequence

ENSEMBL: ENSMUSP00000062025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049506] [ENSMUST00000057843] [ENSMUST00000071068] [ENSMUST00000159081] [ENSMUST00000160826]

AlphaFold

Q8K4M5

Predicted Effect

probably benign
Transcript: ENSMUST00000049506
AA Change: F292Y

PolyPhen 2 Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062025
Gene: ENSMUSG00000044068
AA Change: F292Y

Domain	Start	End	E-Value	Type
low complexity region	14	39	N/A	INTRINSIC
coiled coil region	52	144	N/A	INTRINSIC
ZnF_C3H1	158	184	1.69e-3	SMART
RRM	190	291	1.44e-2	SMART
ZnF_C3H1	297	323	1.2e-3	SMART
low complexity region	364	389	N/A	INTRINSIC
low complexity region	403	418	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000057843
AA Change: E47V

SMART Domains

Protein: ENSMUSP00000053606
Gene: ENSMUSG00000051355
AA Change: E47V

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:HCaRG	44	238	1.2e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071068

SMART Domains

Protein: ENSMUSP00000065079
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:HCaRG	57	89	2.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093270

SMART Domains

Protein: ENSMUSP00000090958
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
Pfam:HCaRG	3	137	1.7e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159081

SMART Domains

Protein: ENSMUSP00000124719
Gene: ENSMUSG00000051355

Domain	Start	End	E-Value	Type
Pfam:HCaRG	12	184	1.3e-53	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000160826

SMART Domains

Protein: ENSMUSP00000125609
Gene: ENSMUSG00000098650

Domain	Start	End	E-Value	Type
Pfam:HCaRG	1	99	1.3e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230879

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

100% (37/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] COMMD1 is a regulator of copper homeostasis, sodium uptake, and NF-kappa-B (see MIM 164011) signaling (de Bie et al., 2005 [PubMed 16267171]).[supplied by OMIM, Sep 2009]
PHENOTYPE: Mice homozygous for a null allele are embryonic lethal with growth retardation, failure to turn, increased apoptosis in brain mesenchyme and defects in extraembryonic tissue development. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,760,331 (GRCm39)	E29G	possibly damaging	Het
Aff3	A	G	1: 38,291,770 (GRCm39)		probably benign	Het
AW146154	A	G	7: 41,129,794 (GRCm39)	C441R	probably damaging	Het
Cacna1a	T	C	8: 85,310,271 (GRCm39)	V1443A	possibly damaging	Het
Ct45a	C	T	X: 55,590,568 (GRCm39)	V78I	probably benign	Het
Ddx18	A	G	1: 121,489,106 (GRCm39)	Y314H	probably damaging	Het
Dna2	C	T	10: 62,802,576 (GRCm39)	T898I	probably damaging	Het
Epc1	C	A	18: 6,440,091 (GRCm39)	V59L	possibly damaging	Het
Etv6	C	A	6: 134,239,975 (GRCm39)		probably benign	Het
Fam118a	A	G	15: 84,937,998 (GRCm39)	D293G	possibly damaging	Het
Gzmn	A	C	14: 56,404,361 (GRCm39)	S159A	probably benign	Het
Insc	A	G	7: 114,390,207 (GRCm39)	D26G	probably damaging	Het
L1td1	A	G	4: 98,626,072 (GRCm39)	R756G	probably damaging	Het
Ltk	A	G	2: 119,582,318 (GRCm39)	L499P	probably benign	Het
Mast4	A	T	13: 102,923,927 (GRCm39)	L291M	probably damaging	Het
Nefm	G	T	14: 68,361,797 (GRCm39)	R156S	probably damaging	Het
Nppc	T	A	1: 86,597,580 (GRCm39)	N63Y	probably damaging	Het
Or5p79	A	T	7: 108,221,924 (GRCm39)	I302F	probably damaging	Het
Or6c69	A	G	10: 129,747,314 (GRCm39)	S278P	probably damaging	Het
Pcdhb7	T	C	18: 37,474,936 (GRCm39)	V24A	probably benign	Het
Pcm1	C	A	8: 41,733,114 (GRCm39)	Q787K	probably damaging	Het
Prg3	A	G	2: 84,823,334 (GRCm39)	K170E	possibly damaging	Het
Slc25a54	T	C	3: 109,019,370 (GRCm39)	S325P	probably damaging	Het
Slc44a1	T	C	4: 53,563,286 (GRCm39)	V671A	probably benign	Het
Spock3	T	A	8: 63,597,049 (GRCm39)		probably null	Het
Stk-ps2	G	A	1: 46,069,081 (GRCm39)		noncoding transcript	Het
Svep1	T	G	4: 58,084,833 (GRCm39)	D1835A	possibly damaging	Het
Tmcc3	A	G	10: 94,415,179 (GRCm39)	T294A	probably benign	Het
Tsen54	A	G	11: 115,711,237 (GRCm39)	N62S	probably benign	Het
Ulk1	C	T	5: 110,937,223 (GRCm39)	R691Q	probably benign	Het
Vmn2r18	G	A	5: 151,508,644 (GRCm39)	A160V	probably damaging	Het
Wnk4	T	C	11: 101,160,114 (GRCm39)	V661A	probably benign	Het
Zfhx4	A	G	3: 5,468,404 (GRCm39)	Y2854C	probably damaging	Het
Zfp563	G	T	17: 33,323,902 (GRCm39)	E166*	probably null	Het
Zfp687	T	A	3: 94,919,391 (GRCm39)	N127I	probably damaging	Het
Zfp958	T	A	8: 4,676,226 (GRCm39)		probably null	Het

Other mutations in Commd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01601:Commd1	APN	11	22,849,981 (GRCm39)	missense	probably damaging	1.00
IGL02275:Commd1	APN	11	22,850,017 (GRCm39)	missense	probably damaging	1.00
R3702:Commd1	UTSW	11	22,924,057 (GRCm39)	missense	probably damaging	1.00
R7853:Commd1	UTSW	11	22,906,532 (GRCm39)	missense	possibly damaging	0.61
R8353:Commd1	UTSW	11	22,928,503 (GRCm39)	intron	probably benign
R8370:Commd1	UTSW	11	22,932,104 (GRCm39)	missense	probably damaging	1.00
R8453:Commd1	UTSW	11	22,928,503 (GRCm39)	intron	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCTACCATGACGTGCTGCC -3'
(R):5'- CCAGAGTGGTAGCTTCTTGAC -3'

Sequencing Primer
(F):5'- TGCTGCCGGAGTTCAAGAAC -3'
(R):5'- CTGAGTTTTTACCAGAGGAGCCAG -3'

Posted On

2015-03-18