Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02207:Commd3'

284559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Commd3

Ensembl Gene

ENSMUSG00000051154

Gene Name

COMM domain containing 3

Synonyms

Bup, D2Ertd542e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.797) question?

Stock #

IGL02207

Quality Score

Status

Chromosome

Chromosomal Location

18672384-18676231 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 18674008 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000061158] [ENSMUST00000150834] [ENSMUST00000171845]

AlphaFold

Q63829

Predicted Effect

probably benign
Transcript: ENSMUST00000028071

SMART Domains

Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART
low complexity region	146	159	N/A	INTRINSIC
low complexity region	264	276	N/A	INTRINSIC
low complexity region	313	323	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000061158

SMART Domains

Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154

Domain	Start	End	E-Value	Type
Pfam:HCaRG	18	191	5.4e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133828

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150590

Predicted Effect

probably benign
Transcript: ENSMUST00000150834

SMART Domains

Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739

Domain	Start	End	E-Value	Type
RING	18	56	4.34e-5	SMART
low complexity region	146	159	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151230

Predicted Effect

probably null
Transcript: ENSMUST00000171845

SMART Domains

Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154

Domain	Start	End	E-Value	Type
Pfam:HCaRG	14	192	1.2e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154519

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110034G24Rik	A	T	2: 132,691,946		probably benign	Het
Adamtsl2	A	G	2: 27,102,981	E702G	probably damaging	Het
Adgre5	T	C	8: 83,728,284	T260A	probably damaging	Het
Agap3	A	T	5: 24,499,936	T660S	probably benign	Het
Amotl2	A	T	9: 102,724,697	E380V	probably damaging	Het
Ap4e1	A	G	2: 127,011,816	E58G	probably damaging	Het
Arap3	G	A	18: 37,987,853	A713V	probably benign	Het
B4galt2	T	C	4: 117,881,521	D33G	probably damaging	Het
Bbs7	A	T	3: 36,604,490	S212T	probably benign	Het
Ccl26	A	G	5: 135,563,370	Y38H	probably benign	Het
Ccne2	A	T	4: 11,202,261	S339C	probably benign	Het
Cd55	A	G	1: 130,452,419	V274A	possibly damaging	Het
Cenpw	T	G	10: 30,198,581		probably null	Het
Chrnb4	T	C	9: 55,035,216	D258G	probably damaging	Het
Col4a3bp	T	C	13: 96,624,792		probably null	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Cyp2b23	C	A	7: 26,681,755	R59L	probably damaging	Het
Edar	G	T	10: 58,610,521	T194K	probably damaging	Het
Edem3	A	G	1: 151,808,360	I733V	possibly damaging	Het
Elmod2	T	C	8: 83,321,506	Y109C	probably benign	Het
Eps15	C	T	4: 109,304,748		probably benign	Het
Fat4	T	C	3: 38,951,263	V1937A	probably benign	Het
Fdx1l	T	A	9: 21,068,119		probably null	Het
Flg2	A	T	3: 93,220,128	I2116F	unknown	Het
Gm15091	A	G	X: 149,977,466	D424G	possibly damaging	Het
Gm16380	T	A	9: 53,884,539		noncoding transcript	Het
Gm6614	A	T	6: 141,990,432	I309N	possibly damaging	Het
Gpn2	G	A	4: 133,584,636	V60M	possibly damaging	Het
Grip1	G	A	10: 120,075,309	R1044K	probably damaging	Het
H2-D1	T	A	17: 35,263,414	S37T	possibly damaging	Het
Havcr1	C	T	11: 46,778,576	A294V	probably benign	Het
Herc4	G	A	10: 63,299,244		probably null	Het
Ift140	A	G	17: 25,055,598	Y748C	probably benign	Het
Il20ra	A	G	10: 19,751,578	T242A	probably damaging	Het
Ilvbl	G	A	10: 78,583,702		probably null	Het
Kif18a	A	T	2: 109,296,707	I329L	probably damaging	Het
Kmt2a	T	A	9: 44,847,682	I957F	probably damaging	Het
Krt1	A	G	15: 101,848,616	I282T	possibly damaging	Het
Lamb1	T	G	12: 31,329,435	V1768G	probably damaging	Het
Nek9	A	T	12: 85,303,483	L939*	probably null	Het
Nfe2l2	A	G	2: 75,678,525	L122P	probably damaging	Het
Nin	T	C	12: 70,056,657	M270V	probably damaging	Het
Nlrp4a	G	T	7: 26,449,278	K103N	possibly damaging	Het
Nrde2	T	C	12: 100,130,931	Y870C	probably benign	Het
Nsmce2	A	G	15: 59,416,078	M71V	probably benign	Het
Ocstamp	T	C	2: 165,397,663	H201R	possibly damaging	Het
Olfr1126	A	G	2: 87,457,450	D95G	probably benign	Het
Olfr744	G	A	14: 50,618,558	G112D	probably damaging	Het
Oog4	T	C	4: 143,438,940	I212M	probably benign	Het
Osmr	T	C	15: 6,847,147	T99A	probably benign	Het
Pdia4	A	T	6: 47,796,807	M536K	probably benign	Het
Pdyn	A	T	2: 129,688,518	L77H	probably damaging	Het
Pikfyve	T	C	1: 65,251,678		probably null	Het
Plcb1	A	G	2: 135,387,171	E1105G	probably damaging	Het
Rb1	A	T	14: 73,206,085	D743E	probably damaging	Het
Rdh14	G	A	12: 10,394,712	V188I	possibly damaging	Het
Scd3	T	C	19: 44,215,589	V72A	possibly damaging	Het
Slc25a27	G	A	17: 43,661,684	R104W	probably damaging	Het
Slc29a4	A	G	5: 142,718,885	D394G	possibly damaging	Het
Snx29	T	G	16: 11,738,352	M407R	probably damaging	Het
Syf2	A	G	4: 134,935,052		probably null	Het
Syn1	T	C	X: 20,865,137	Q321R	probably benign	Het
Tbc1d12	A	T	19: 38,916,647	D602V	probably damaging	Het
Tenm4	A	T	7: 96,874,116	I1585F	possibly damaging	Het
Tgfbr1	A	G	4: 47,410,785		probably benign	Het
Trav6-2	G	A	14: 52,667,432	V8M	possibly damaging	Het
Unc119b	A	G	5: 115,134,754	S53P	probably benign	Het
Vmp1	T	A	11: 86,607,193	I299F	possibly damaging	Het
Xpot	T	C	10: 121,613,580	Y194C	probably damaging	Het
Zbtb10	T	A	3: 9,280,465		probably null	Het

Other mutations in Commd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Commd3	APN	2	18673928	missense	possibly damaging	0.68
IGL00972:Commd3	APN	2	18674665	missense	probably benign	0.04
IGL01309:Commd3	APN	2	18672478	missense	probably benign	0.26
IGL01575:Commd3	APN	2	18674717	critical splice donor site	probably null
R0062:Commd3	UTSW	2	18674703	splice site	probably null
R0062:Commd3	UTSW	2	18674703	splice site	probably null
R0699:Commd3	UTSW	2	18674975	missense	possibly damaging	0.50
R1223:Commd3	UTSW	2	18674968	missense	probably benign	0.00
R1959:Commd3	UTSW	2	18673963	missense	probably benign	0.07
R3011:Commd3	UTSW	2	18674688	missense	probably damaging	1.00
R4710:Commd3	UTSW	2	18674282	missense	probably benign	0.02
R4821:Commd3	UTSW	2	18672528	missense	probably benign
R5098:Commd3	UTSW	2	18674177	missense	possibly damaging	0.85
R5456:Commd3	UTSW	2	18674157	missense	probably damaging	0.96
R5891:Commd3	UTSW	2	18673815	intron	probably benign
R6511:Commd3	UTSW	2	18674839	missense	probably benign	0.00

Posted On

2015-04-16