Mutagenetix > Incidental Mutation

Incidental Mutation 'R7476:Adam29'

579496

Institutional Source

Beutler Lab

Gene Symbol

Adam29

Ensembl Gene

ENSMUSG00000046258

Gene Name

a disintegrin and metallopeptidase domain 29

Synonyms

MMRRC Submission

Accession Numbers

Genbank: NM_175939; MGI: 2676326

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R7476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55870912-55906948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 55873195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 75 (H75N)

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: H75N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: H75N

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

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	C	T	6: 52,179,034	P27S	unknown	Het
Abi3bp	A	T	16: 56,614,746	K602*	probably null	Het
Ajap1	C	T	4: 153,384,855	E373K	probably damaging	Het
Alg6	C	A	4: 99,743,876	H206N	probably damaging	Het
Alox5	A	T	6: 116,415,433	S376T	probably benign	Het
Arhgap19	A	T	19: 41,782,363	Y321N	probably benign	Het
Brip1	A	G	11: 86,157,808	V236A	probably benign	Het
C1ra	C	T	6: 124,522,699	P615S	probably damaging	Het
Ccdc69	C	T	11: 55,051,198	V161I	possibly damaging	Het
Chil5	G	A	3: 106,020,007	R163C	possibly damaging	Het
Cldnd1	A	G	16: 58,729,544	D30G	probably damaging	Het
Colca2	G	A	9: 51,277,600	A19V	possibly damaging	Het
Csmd1	A	G	8: 15,895,731	C3561R	probably damaging	Het
Daxx	T	G	17: 33,911,281	V90G	probably damaging	Het
Dgkg	T	A	16: 22,622,304		probably benign	Het
Dmrta2	A	G	4: 109,982,025	H323R	probably damaging	Het
Dysf	A	T	6: 84,064,896	T161S	probably benign	Het
Fat1	G	T	8: 45,031,274	R3183L	probably benign	Het
Fcho1	C	A	8: 71,713,546	D347Y	probably damaging	Het
Gm21798	T	C	15: 64,817,706	C5R	unknown	Het
Hmcn1	T	C	1: 150,580,267	R5301G	probably damaging	Het
Hoxd11	T	C	2: 74,684,115	F330L	probably damaging	Het
Lactbl1	A	G	4: 136,637,639	D434G	probably benign	Het
Lgals8	A	T	13: 12,448,481	N191K	probably damaging	Het
Lmod2	T	A	6: 24,597,921	Y13*	probably null	Het
Malrd1	T	C	2: 16,142,304	S1986P	unknown	Het
Map3k9	C	T	12: 81,743,808	D324N	probably damaging	Het
Mcmbp	C	A	7: 128,703,582	K487N	probably damaging	Het
Mrpl4	G	T	9: 21,002,771		probably benign	Het
Nectin2	T	C	7: 19,717,621	D496G	possibly damaging	Het
Nom1	T	C	5: 29,442,536	S590P	probably benign	Het
Noto	T	C	6: 85,425,499	F156L	probably damaging	Het
Nrf1	T	A	6: 30,116,272	D314E	probably damaging	Het
Nup93	T	C	8: 94,303,632	L373P	probably damaging	Het
Olfr1002	T	A	2: 85,648,168	Q51L	not run	Het
Olfr1168	A	T	2: 88,184,966	M30L	probably benign	Het
Olfr1205	A	G	2: 88,831,588	Q157R	probably benign	Het
Olfr1239	T	C	2: 89,417,499	K305E	possibly damaging	Het
Olfr1369-ps1	A	C	13: 21,116,021	I110L	probably benign	Het
Olfr1412	A	C	1: 92,589,264	R311S	probably benign	Het
Pclo	A	T	5: 14,521,331	K243N	probably damaging	Het
Pdgfra	T	A	5: 75,170,603	C290S	probably damaging	Het
Pnlip	G	A	19: 58,679,634		probably null	Het
Ptprm	A	T	17: 66,725,791	H1022Q	probably benign	Het
Rfx2	T	C	17: 56,803,527	D153G	probably benign	Het
Rps6ka2	T	C	17: 7,271,633	F317L	probably damaging	Het
Rtl1	T	A	12: 109,591,105	E1433D	unknown	Het
Sarnp	A	G	10: 128,833,354	T27A	probably benign	Het
Shc3	A	T	13: 51,448,006	M295K	probably benign	Het
Slc1a3	T	A	15: 8,643,084	M304L	probably damaging	Het
Slco1a6	G	T	6: 142,103,001	T351K	possibly damaging	Het
Snrk	A	G	9: 122,157,222	N219S	probably damaging	Het
Spats2	T	A	15: 99,212,141	V473E	probably benign	Het
Stk35	T	C	2: 129,810,725	L382P	probably damaging	Het
Tbx10	T	C	19: 3,999,034	V315A	probably benign	Het
Tdpoz1	A	G	3: 93,670,775	L234P	probably damaging	Het
Ttn	T	G	2: 76,714,145	E32832D	probably benign	Het
Ttn	T	C	2: 76,771,186	Y18678C	probably damaging	Het
Ugt2a2	A	T	5: 87,474,494	M205K	probably damaging	Het
Utrn	C	A	10: 12,640,951	V2300L	probably benign	Het
Vmn1r175	T	C	7: 23,808,422	N260S	probably benign	Het
Vmn1r63	T	A	7: 5,803,001	I211L	probably benign	Het
Vmn1r83	A	G	7: 12,321,615	W172R	possibly damaging	Het
Xirp2	T	C	2: 67,510,634	L1073P	probably benign	Het
Zfp82	A	G	7: 30,056,172	V495A	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GCTGGAACCCCTTGATTCTG -3'
(R):5'- GACACAAGTGTTTGGGATTTTCC -3'

Sequencing Primer
(F):5'- ACTGTCCACTTTATAGACCAGATG -3'
(R):5'- CTGTGTTTTCCTGGACTCACAAAGG -3'

Posted On

2019-10-07