Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Adam29'

288722

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: 0.073) question?

Stock #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

55870912-55906948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55871740 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 560 (I560F)

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: I560F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: I560F

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,608,888		noncoding transcript	Het
Abca13	A	T	11: 9,291,482	Y1115F	probably damaging	Het
Bivm	T	C	1: 44,128,720		probably benign	Het
Brinp1	C	A	4: 68,904,884	R24L	probably benign	Het
Cnga1	A	G	5: 72,604,486	Y562H	probably damaging	Het
Cr2	C	A	1: 195,160,322	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,843,128	N119I	probably damaging	Het
Dio1	A	T	4: 107,293,781	Y169N	probably damaging	Het
Dmbt1	C	T	7: 131,066,613		probably benign	Het
Eogt	T	G	6: 97,125,605	H249P	probably damaging	Het
Ermard	A	C	17: 14,990,545		probably null	Het
Exoc4	T	C	6: 33,249,240		probably null	Het
Fxr2	G	T	11: 69,649,838		probably null	Het
Glyr1	G	T	16: 5,018,953	T443N	probably damaging	Het
Gm14137	T	G	2: 119,175,326	L122R	probably damaging	Het
Gm4845	C	A	1: 141,256,597		noncoding transcript	Het
Gm8258	A	G	5: 104,775,902		noncoding transcript	Het
Gmps	G	A	3: 63,990,569	R258H	probably benign	Het
Itga6	T	G	2: 71,838,373	L552R	possibly damaging	Het
Itgam	T	A	7: 128,085,674		probably null	Het
Itgb5	G	T	16: 33,920,130	E224*	probably null	Het
Itih4	C	A	14: 30,887,860	A49D	probably damaging	Het
Itpr2	A	T	6: 146,426,542	N64K	probably damaging	Het
Moap1	T	C	12: 102,742,807	Y161C	probably benign	Het
Mst1r	G	T	9: 107,907,826	G228*	probably null	Het
Myo1g	T	C	11: 6,520,766	D30G	possibly damaging	Het
Ndn	T	A	7: 62,348,825	C140S	probably damaging	Het
Nek5	G	T	8: 22,095,261	Q367K	probably benign	Het
Nrd1	A	T	4: 109,000,988	R52S	probably damaging	Het
Nup133	A	T	8: 123,907,832	L1007Q	probably damaging	Het
Olfr1105	T	C	2: 87,034,212	D3G	probably benign	Het
Olfr633	T	C	7: 103,946,920	M118T	probably damaging	Het
Olfr74	A	T	2: 87,974,065	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,341,805	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,443,582	V338M	probably benign	Het
Pdcl2	A	T	5: 76,319,135	Y70*	probably null	Het
Ppm1e	T	C	11: 87,231,742	H463R	probably benign	Het
Ppm1f	T	A	16: 16,914,087	C134S	possibly damaging	Het
Ppp2r3a	A	G	9: 101,180,403	F180L	possibly damaging	Het
Pxn	A	G	5: 115,544,926	S96G	probably benign	Het
Rasa4	G	T	5: 136,095,599	Q167H	probably benign	Het
Rfx8	T	C	1: 39,718,480	I43V	possibly damaging	Het
Sez6	C	T	11: 77,954,742		probably benign	Het
Slc39a6	A	T	18: 24,589,823	D473E	probably benign	Het
Spocd1	A	G	4: 129,949,092	D68G	probably damaging	Het
Syt13	T	C	2: 92,940,804	F79L	probably benign	Het
Tas2r103	A	T	6: 133,036,512	M197K	probably benign	Het
Tbrg4	A	G	11: 6,618,492	V429A	probably damaging	Het
Tuft1	A	C	3: 94,615,768		probably null	Het
Uqcrc1	A	G	9: 108,947,869	T80A	probably damaging	Het
Vps18	A	G	2: 119,293,810	N406S	probably benign	Het
Xrn2	T	A	2: 147,026,590	W188R	probably damaging	Het
Zzef1	T	G	11: 72,916,509	S2738A	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
IGL01511:Adam29	APN	8	55871421	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
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

2015-04-16