Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01511:Adam29'

89244

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam29

Ensembl Gene

ENSMUSG00000046258

Gene Name

a disintegrin and metallopeptidase domain 29

Synonyms

Accession Numbers

Genbank: NM_175939; MGI: 2676326

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL01511

Quality Score

Status

Chromosome

Chromosomal Location

55870912-55906948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55871421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 666 (G666D)

Ref Sequence

ENSEMBL: ENSMUSP00000054292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053441]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053441
AA Change: G666D

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

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: G666D

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	159	1.9e-17	PFAM
Pfam:Reprolysin_4	203	394	3.3e-10	PFAM
Pfam:Reprolysin_5	203	403	6.9e-15	PFAM
Pfam:Reprolysin	205	395	1.5e-48	PFAM
Pfam:Reprolysin_2	226	386	7.4e-11	PFAM
Pfam:Reprolysin_3	228	349	1.4e-11	PFAM
DISIN	412	487	4.26e-37	SMART
ACR	488	624	2.85e-58	SMART
low complexity region	642	651	N/A	INTRINSIC
transmembrane domain	683	705	N/A	INTRINSIC
low complexity region	713	746	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. [provided by RefSeq, May 2016]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,244,310	D216E	probably benign	Het
Abcc4	C	A	14: 118,599,341	L669F	probably benign	Het
Adat2	T	G	10: 13,560,238	M109R	probably null	Het
Atf3	T	A	1: 191,171,496	T178S	probably benign	Het
Birc6	T	A	17: 74,627,003	Y2522*	probably null	Het
Ccr8	G	A	9: 120,094,625	G269R	probably damaging	Het
Ces1a	G	T	8: 93,045,098	P24T	probably damaging	Het
Chrna4	C	T	2: 181,028,668	V432I	probably benign	Het
Commd8	A	G	5: 72,165,379	V65A	probably benign	Het
Cyp2j13	A	G	4: 96,077,315	F52L	possibly damaging	Het
Desi1	T	A	15: 82,002,588	K45*	probably null	Het
Dmbt1	T	A	7: 131,116,728	M1552K	possibly damaging	Het
Dna2	G	A	10: 62,955,314	M197I	possibly damaging	Het
Dnah7a	A	C	1: 53,419,595	L3795V	probably damaging	Het
Fam221b	T	C	4: 43,660,135		probably null	Het
Fbxw18	A	T	9: 109,688,821	S366T	possibly damaging	Het
Fzd8	A	G	18: 9,213,293	Y125C	unknown	Het
Gcsam	T	C	16: 45,615,952	Y11H	probably damaging	Het
Gucy2f	G	T	X: 142,161,734	D410E	probably damaging	Het
Hdac3	C	T	18: 37,952,595	A53T	probably benign	Het
Lamp2	A	G	X: 38,431,875	L244P	probably damaging	Het
Lrrk1	A	T	7: 66,265,450	F1630Y	possibly damaging	Het
M1ap	C	A	6: 83,028,412	D434E	probably benign	Het
Mcmbp	A	G	7: 128,707,164	Y378H	probably damaging	Het
Mvb12a	T	A	8: 71,545,302	V120E	probably damaging	Het
Nbeal2	A	C	9: 110,629,234	W2063G	probably damaging	Het
Neto1	A	C	18: 86,395,908	H9P	possibly damaging	Het
Nmu	C	T	5: 76,340,821	V126M	probably damaging	Het
Odf2	T	C	2: 29,914,309		probably benign	Het
Olfr1387	A	G	11: 49,460,216	E179G	probably damaging	Het
Pdzrn3	T	C	6: 101,153,256	H533R	possibly damaging	Het
Pikfyve	G	T	1: 65,258,869	E1586*	probably null	Het
Plcb3	C	A	19: 6,955,843	R970L	probably damaging	Het
Plxna3	A	G	X: 74,335,308	E686G	probably damaging	Het
Polrmt	T	A	10: 79,740,151	Y586F	probably benign	Het
Ppt1	T	A	4: 122,854,425	F225I	probably damaging	Het
Prcc	T	G	3: 87,872,241	D162A	probably damaging	Het
Ripor1	T	C	8: 105,619,930		probably benign	Het
Rnaseh1	A	G	12: 28,659,009	H263R	probably damaging	Het
Rnf19b	T	A	4: 129,080,418	S490R	probably damaging	Het
Slc15a2	T	A	16: 36,784,726	T23S	probably damaging	Het
Slc17a2	T	C	13: 23,819,138		probably null	Het
Slc35f4	T	C	14: 49,298,877	M434V	probably benign	Het
Slc52a3	C	T	2: 152,004,644	T175I	probably benign	Het
Slc5a2	C	T	7: 128,270,622	T409M	probably benign	Het
Tbc1d24	A	G	17: 24,181,918	S108P	probably benign	Het
Thnsl2	T	G	6: 71,139,793	Q125P	probably benign	Het
Ttc13	T	C	8: 124,676,371	D672G	probably damaging	Het
Ttn	G	T	2: 76,753,745	H14013N	possibly damaging	Het
Unc5a	T	C	13: 55,004,816	F792L	probably damaging	Het
Vac14	T	C	8: 110,712,798	V669A	possibly damaging	Het
Vmn1r13	A	T	6: 57,210,329	M158L	probably benign	Het
Vmn1r220	A	T	13: 23,184,214	V104D	probably damaging	Het
Wdr78	T	C	4: 103,048,361	D741G	possibly damaging	Het
Zfp738	A	T	13: 67,683,401		probably null	Het
Zscan5b	A	C	7: 6,231,422	H149P	probably benign	Het

Other mutations in Adam29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Adam29	APN	8	55871844	missense	probably benign	0.01
IGL01406:Adam29	APN	8	55871839	missense	probably damaging	1.00
IGL01869:Adam29	APN	8	55871697	missense	probably damaging	0.99
IGL01894:Adam29	APN	8	55871830	missense	probably benign	0.00
IGL02023:Adam29	APN	8	55872484	missense	probably benign	0.12
IGL02030:Adam29	APN	8	55872122	missense	probably benign	0.35
IGL02071:Adam29	APN	8	55871554	missense	possibly damaging	0.95
IGL02094:Adam29	APN	8	55871445	missense	possibly damaging	0.48
IGL02108:Adam29	APN	8	55872311	missense	probably damaging	0.98
IGL02125:Adam29	APN	8	55871939	nonsense	probably null
IGL02330:Adam29	APN	8	55872363	missense	probably benign	0.02
IGL02332:Adam29	APN	8	55871740	missense	probably damaging	1.00
IGL02548:Adam29	APN	8	55872867	nonsense	probably null
IGL02960:Adam29	APN	8	55872666	nonsense	probably null
IGL03030:Adam29	APN	8	55873065	missense	probably damaging	1.00
ANU22:Adam29	UTSW	8	55871844	missense	probably benign	0.01
D4043:Adam29	UTSW	8	55872461	nonsense	probably null
IGL02835:Adam29	UTSW	8	55873138	missense	probably damaging	1.00
R0294:Adam29	UTSW	8	55873276	missense	probably benign	0.25
R0449:Adam29	UTSW	8	55872681	missense	probably benign	0.01
R0607:Adam29	UTSW	8	55873275	missense	probably damaging	1.00
R0626:Adam29	UTSW	8	55871577	missense	probably benign	0.24
R1296:Adam29	UTSW	8	55871719	nonsense	probably null
R1752:Adam29	UTSW	8	55872274	missense	probably damaging	0.98
R1930:Adam29	UTSW	8	55873089	missense	probably damaging	1.00
R1931:Adam29	UTSW	8	55873089	missense	probably damaging	1.00
R2397:Adam29	UTSW	8	55872898	missense	probably benign	0.04
R2764:Adam29	UTSW	8	55871756	missense	probably damaging	1.00
R4052:Adam29	UTSW	8	55872282	missense	probably damaging	1.00
R4978:Adam29	UTSW	8	55871401	missense	probably damaging	0.98
R5306:Adam29	UTSW	8	55871757	missense	probably damaging	1.00
R6383:Adam29	UTSW	8	55871508	missense	probably damaging	0.99
R6528:Adam29	UTSW	8	55872561	missense	possibly damaging	0.93
R6579:Adam29	UTSW	8	55872744	missense	probably damaging	1.00
R6707:Adam29	UTSW	8	55872100	missense	probably damaging	1.00
R7076:Adam29	UTSW	8	55871659	missense	probably damaging	1.00
R7099:Adam29	UTSW	8	55871404	missense	probably benign	0.01
R7177:Adam29	UTSW	8	55872624	missense	probably benign	0.30
R7320:Adam29	UTSW	8	55872714	missense	possibly damaging	0.50
R7420:Adam29	UTSW	8	55872898	missense	probably benign	0.04
R7438:Adam29	UTSW	8	55871574	missense	probably damaging	0.99
R7476:Adam29	UTSW	8	55873195	missense	probably damaging	0.97
R7524:Adam29	UTSW	8	55872360	missense	probably damaging	1.00
R8066:Adam29	UTSW	8	55872668	missense	probably benign	0.11
R8111:Adam29	UTSW	8	55871550	missense	probably benign	0.00
R8221:Adam29	UTSW	8	55872428	missense	probably benign	0.02
R8350:Adam29	UTSW	8	55872189	missense	possibly damaging	0.89
R8353:Adam29	UTSW	8	55873161	missense	possibly damaging	0.82
R8453:Adam29	UTSW	8	55873161	missense	possibly damaging	0.82
R8723:Adam29	UTSW	8	55871478	missense	probably damaging	1.00
R8752:Adam29	UTSW	8	55872293	nonsense	probably null
R8809:Adam29	UTSW	8	55872624	missense	probably benign	0.30
R9025:Adam29	UTSW	8	55872161	nonsense	probably null
R9388:Adam29	UTSW	8	55872250	missense	probably damaging	1.00
R9612:Adam29	UTSW	8	55872083	missense	possibly damaging	0.77
X0011:Adam29	UTSW	8	55873168	missense	probably benign	0.02
Z1177:Adam29	UTSW	8	55871496	missense	probably damaging	1.00

Posted On

2013-12-03