Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02275:Commd1'

287305

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Commd1

Ensembl Gene

ENSMUSG00000051355

Gene Name

COMM domain containing 1

Synonyms

Murr1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02275

Quality Score

Status

Chromosome

Chromosomal Location

22849728-22934539 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22850017 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 222 (V222D)

Ref Sequence

ENSEMBL: ENSMUSP00000053606 (fasta)

Gene Model

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

AlphaFold

Q8K4M5

Predicted Effect

probably damaging
Transcript: ENSMUST00000057843
AA Change: V222D

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

SMART Domains

Protein: ENSMUSP00000053606
Gene: ENSMUSG00000051355
AA Change: V222D

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
AA Change: V72D

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065079
Gene: ENSMUSG00000051355
AA Change: V72D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000159081
AA Change: V167D

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000124719
Gene: ENSMUSG00000051355
AA Change: V167D

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: ENSMUST00000161944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162924

Coding Region Coverage

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	T	A	16: 3,724,146 (GRCm39)	D130V	probably damaging	Het
4930596D02Rik	T	C	14: 35,533,880 (GRCm39)	T9A	probably benign	Het
Anapc1	C	A	2: 128,501,772 (GRCm39)	A757S	probably benign	Het
Bpifa6	A	T	2: 153,834,192 (GRCm39)	D328V	probably benign	Het
Cdh19	T	A	1: 110,853,616 (GRCm39)	K275I	probably benign	Het
Col18a1	A	G	10: 76,895,217 (GRCm39)	I1148T	possibly damaging	Het
Crim1	T	A	17: 78,677,427 (GRCm39)	M876K	possibly damaging	Het
Dennd1b	C	A	1: 139,008,992 (GRCm39)	H232N	probably damaging	Het
Dhx57	T	C	17: 80,582,268 (GRCm39)	T393A	probably benign	Het
Dnai7	T	C	6: 145,123,090 (GRCm39)	Y592C	probably damaging	Het
Gabrb2	G	T	11: 42,482,721 (GRCm39)	R193L	probably benign	Het
Gm5828	T	A	1: 16,839,342 (GRCm39)		noncoding transcript	Het
Gm6483	C	T	8: 19,741,629 (GRCm39)	P55S	probably damaging	Het
Hsp90ab1	T	C	17: 45,879,364 (GRCm39)	Y619C	possibly damaging	Het
Kctd19	A	G	8: 106,123,006 (GRCm39)	I136T	probably damaging	Het
Or2n1	G	T	17: 38,486,577 (GRCm39)	V201L	probably benign	Het
Or2w6	A	C	13: 21,843,170 (GRCm39)	F108V	probably benign	Het
Sel1l	T	C	12: 91,781,789 (GRCm39)	Y532C	probably damaging	Het
Sirpb1a	A	G	3: 15,475,469 (GRCm39)		probably null	Het
Ush2a	C	T	1: 187,995,466 (GRCm39)	T79M	possibly damaging	Het
Usp24	T	C	4: 106,244,690 (GRCm39)	V1215A	probably damaging	Het
Vdac3-ps1	T	C	13: 18,205,379 (GRCm39)		noncoding transcript	Het
Vmn2r75	T	C	7: 85,814,348 (GRCm39)	T382A	probably benign	Het
Vps53	T	C	11: 75,937,949 (GRCm39)	Y728C	probably benign	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
R3702:Commd1	UTSW	11	22,924,057 (GRCm39)	missense	probably damaging	1.00
R3763:Commd1	UTSW	11	22,924,102 (GRCm39)	missense	probably benign	0.14
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

Posted On

2015-04-16