Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00972:Commd3'

27006

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

Essential gene?

Probably essential (E-score: 0.846) question?

Stock #

IGL00972

Quality Score

Status

Chromosome

Chromosomal Location

18677246-18681042 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 18679476 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 120 (R120S)

Ref Sequence

ENSEMBL: ENSMUSP00000127385 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000061158
AA Change: R120S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000049882
Gene: ENSMUSG00000051154
AA Change: R120S

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

probably benign
Transcript: ENSMUST00000171845
AA Change: R120S

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000127385
Gene: ENSMUSG00000051154
AA Change: R120S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137317

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151230

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137817

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150590

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154519

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,504,484 (GRCm39)	F23L	probably damaging	Het
Abcf3	A	T	16: 20,370,434 (GRCm39)	M320L	probably damaging	Het
Adam4	A	T	12: 81,467,423 (GRCm39)	H399Q	probably damaging	Het
Ank1	A	G	8: 23,631,660 (GRCm39)	K140E	probably damaging	Het
Atg2a	G	A	19: 6,304,629 (GRCm39)	C1162Y	probably damaging	Het
Atp2b1	T	A	10: 98,850,906 (GRCm39)	I34N	probably damaging	Het
Bin1	A	T	18: 32,557,887 (GRCm39)	E260V	probably benign	Het
Birc2	G	A	9: 7,833,716 (GRCm39)	S255L	probably benign	Het
Cdc42bpa	A	G	1: 179,902,249 (GRCm39)	Q502R	probably benign	Het
Cep170	A	G	1: 176,563,262 (GRCm39)	V1584A	probably benign	Het
Cyp39a1	A	T	17: 44,012,434 (GRCm39)	I304L	probably benign	Het
Cyp3a44	A	T	5: 145,716,534 (GRCm39)	M352K	possibly damaging	Het
Dna2	T	C	10: 62,786,602 (GRCm39)	Y117H	probably benign	Het
Dnah6	A	G	6: 73,060,140 (GRCm39)		probably benign	Het
Dsc1	G	A	18: 20,221,420 (GRCm39)	P685L	probably benign	Het
Efna5	T	A	17: 62,920,374 (GRCm39)	I168L	possibly damaging	Het
Ephx1	A	G	1: 180,827,365 (GRCm39)	F96S	probably benign	Het
Fig4	A	T	10: 41,127,784 (GRCm39)	I560K	probably damaging	Het
Fktn	T	A	4: 53,734,992 (GRCm39)	I210N	probably damaging	Het
Fmnl1	T	C	11: 103,071,781 (GRCm39)	V96A	probably damaging	Het
Gabra1	T	G	11: 42,024,453 (GRCm39)	E407D	probably benign	Het
Gm5277	A	T	3: 78,799,593 (GRCm39)		noncoding transcript	Het
H2-M10.5	A	T	17: 37,084,227 (GRCm39)	E63V	possibly damaging	Het
Icam5	T	A	9: 20,945,993 (GRCm39)	V275E	probably damaging	Het
Kel	G	A	6: 41,665,000 (GRCm39)	A588V	possibly damaging	Het
Klra5	T	A	6: 129,883,568 (GRCm39)	E96D	probably damaging	Het
Limd1	C	T	9: 123,309,141 (GRCm39)	T280I	probably benign	Het
Mul1	C	A	4: 138,165,628 (GRCm39)	S95*	probably null	Het
Nlrp4a	T	C	7: 26,156,473 (GRCm39)	S733P	probably benign	Het
Ntn1	T	A	11: 68,104,098 (GRCm39)	I517F	possibly damaging	Het
Ntrk3	T	A	7: 77,897,070 (GRCm39)	M656L	possibly damaging	Het
Oacyl	T	G	18: 65,858,572 (GRCm39)	L226R	possibly damaging	Het
Or1ad6	A	T	11: 50,859,946 (GRCm39)	M34L	probably benign	Het
Or4f61	A	T	2: 111,922,439 (GRCm39)	N202K	probably damaging	Het
Or5ac17	A	G	16: 59,036,829 (GRCm39)	I49T	probably damaging	Het
Pibf1	T	A	14: 99,416,885 (GRCm39)	L486*	probably null	Het
Pla2g4c	A	G	7: 13,074,583 (GRCm39)	Y253C	probably benign	Het
Rims3	C	A	4: 120,748,583 (GRCm39)	A268E	probably benign	Het
Rpl12	T	C	2: 32,853,759 (GRCm39)	I129T	probably benign	Het
Rsl1	A	T	13: 67,329,862 (GRCm39)	K103N	probably benign	Het
Scn11a	A	T	9: 119,623,004 (GRCm39)	W612R	probably benign	Het
Sdk2	G	A	11: 113,745,210 (GRCm39)	T695M	possibly damaging	Het
Slc17a1	T	A	13: 24,062,437 (GRCm39)		probably benign	Het
Stam	A	T	2: 14,120,779 (GRCm39)		probably benign	Het
Tacr3	T	G	3: 134,638,116 (GRCm39)	N424K	probably benign	Het
Tas1r2	C	T	4: 139,387,347 (GRCm39)	R240W	probably damaging	Het
Tle1	T	C	4: 72,040,637 (GRCm39)	R648G	probably damaging	Het
Tmem92	T	C	11: 94,673,254 (GRCm39)	D3G	possibly damaging	Het
Trip11	T	C	12: 101,860,596 (GRCm39)	I250V	probably null	Het
Tspan8	C	T	10: 115,680,044 (GRCm39)		probably benign	Het
Vmn1r128	A	G	7: 21,084,001 (GRCm39)	E235G	probably benign	Het
Vmn1r220	A	G	13: 23,368,558 (GRCm39)	L46P	probably damaging	Het
Vmn2r9	T	C	5: 108,996,903 (GRCm39)	E122G	probably benign	Het
Zfp27	A	T	7: 29,594,383 (GRCm39)	N527K	probably damaging	Het

Other mutations in Commd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Commd3	APN	2	18,678,739 (GRCm39)	missense	possibly damaging	0.68
IGL01309:Commd3	APN	2	18,677,289 (GRCm39)	missense	probably benign	0.26
IGL01575:Commd3	APN	2	18,679,528 (GRCm39)	critical splice donor site	probably null
IGL02207:Commd3	APN	2	18,678,819 (GRCm39)	critical splice donor site	probably null
R0062:Commd3	UTSW	2	18,679,514 (GRCm39)	splice site	probably null
R0062:Commd3	UTSW	2	18,679,514 (GRCm39)	splice site	probably null
R0699:Commd3	UTSW	2	18,679,786 (GRCm39)	missense	possibly damaging	0.50
R1223:Commd3	UTSW	2	18,679,779 (GRCm39)	missense	probably benign	0.00
R1959:Commd3	UTSW	2	18,678,774 (GRCm39)	missense	probably benign	0.07
R3011:Commd3	UTSW	2	18,679,499 (GRCm39)	missense	probably damaging	1.00
R4710:Commd3	UTSW	2	18,679,093 (GRCm39)	missense	probably benign	0.02
R4821:Commd3	UTSW	2	18,677,339 (GRCm39)	missense	probably benign
R5098:Commd3	UTSW	2	18,678,988 (GRCm39)	missense	possibly damaging	0.85
R5456:Commd3	UTSW	2	18,678,968 (GRCm39)	missense	probably damaging	0.96
R5891:Commd3	UTSW	2	18,678,626 (GRCm39)	intron	probably benign
R6511:Commd3	UTSW	2	18,679,650 (GRCm39)	missense	probably benign	0.00

Posted On

2013-04-17