Mutagenetix > Incidental Mutation

Incidental Mutation 'R0607:Adam29'

54279

Institutional Source

Beutler Lab

Gene Symbol

Adam29

Ensembl Gene

ENSMUSG00000046258

Gene Name

a disintegrin and metallopeptidase domain 29

Synonyms

MMRRC Submission

038796-MU

Accession Numbers

Genbank: NM_175939; MGI: 2676326

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0607 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55870912-55906948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55873275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 48 (V48A)

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: V48A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: V48A

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: 99.7%
3x: 99.1%
10x: 97.6%
20x: 95.1%

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: 147 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,554,698	E146G	probably benign	Het
4930435E12Rik	A	C	16: 38,828,364	S128A	probably benign	Het
Abca4	G	A	3: 122,156,432	G594S	probably damaging	Het
Acacb	T	C	5: 114,200,301	Y726H	probably damaging	Het
Adam20	T	A	8: 40,795,480	M209K	probably benign	Het
Adss	A	G	1: 177,767,687	V429A	possibly damaging	Het
Aff1	T	C	5: 103,828,454	S481P	probably damaging	Het
Akr1c19	G	A	13: 4,238,460	A146T	probably benign	Het
Ankhd1	G	T	18: 36,640,280	V59F	probably damaging	Het
Ankmy1	T	G	1: 92,888,675	Y239S	probably damaging	Het
Ankrd24	G	T	10: 81,638,308	C19F	probably damaging	Het
Apaf1	T	C	10: 91,009,203	H1002R	probably damaging	Het
Apc2	T	C	10: 80,314,101	I1663T	probably benign	Het
Apcdd1	A	G	18: 62,951,896	N388S	possibly damaging	Het
Arap2	G	A	5: 62,606,131	P1557S	possibly damaging	Het
Armc2	T	A	10: 41,922,695	H706L	probably benign	Het
Arrb1	T	C	7: 99,588,196		probably null	Het
Atl3	T	C	19: 7,529,666		probably null	Het
B9d2	A	G	7: 25,683,332	T44A	probably damaging	Het
Btbd3	C	T	2: 138,283,816	R307W	possibly damaging	Het
C1galt1	T	C	6: 7,871,193	I343T	probably benign	Het
Cacna1a	A	G	8: 84,629,831	D1901G	probably damaging	Het
Ccdc42	C	T	11: 68,597,710	Q312*	probably null	Het
Cdh18	T	C	15: 23,410,790	Y454H	probably benign	Het
Celf5	G	A	10: 81,466,005	T317I	probably damaging	Het
Celsr2	A	T	3: 108,403,895		probably null	Het
Cenpf	A	T	1: 189,682,463		probably null	Het
Cep350	T	C	1: 155,872,048	D2042G	probably damaging	Het
Chd3	T	C	11: 69,344,358	D2054G	probably damaging	Het
Chgb	A	G	2: 132,793,335	H399R	probably benign	Het
Clp1	C	T	2: 84,725,591	A182T	possibly damaging	Het
Col15a1	A	G	4: 47,282,654	N777S	probably damaging	Het
Coq6	A	G	12: 84,368,638	D145G	possibly damaging	Het
Csf2rb2	T	C	15: 78,287,908	Y325C	probably benign	Het
Ctnna2	T	C	6: 76,902,430	T824A	probably benign	Het
Cyp4x1	T	A	4: 115,112,826	D368V	probably damaging	Het
D10Wsu102e	T	C	10: 83,362,097	S56P	probably benign	Het
D430041D05Rik	C	T	2: 104,233,445	R1354H	probably damaging	Het
D6Ertd527e	A	C	6: 87,111,905	D350A	unknown	Het
Ddx24	A	G	12: 103,419,067	Y426H	possibly damaging	Het
Dexi	G	T	16: 10,542,562	Y43*	probably null	Het
Dgka	A	G	10: 128,720,469		probably null	Het
Dhx38	A	T	8: 109,558,943	D419E	probably benign	Het
Dlg1	C	A	16: 31,665,580	Q9K	probably benign	Het
Dlg1	G	A	16: 31,838,174	V596I	possibly damaging	Het
Dnah11	A	C	12: 118,082,511	W1731G	probably damaging	Het
Dnhd1	T	A	7: 105,720,788	N4473K	probably benign	Het
Dync2h1	A	C	9: 7,051,480	S3152A	probably benign	Het
Egfl7	C	T	2: 26,589,440	T68I	probably damaging	Het
Eif2a	G	A	3: 58,555,652		probably null	Het
Emb	G	A	13: 117,232,750	V56I	possibly damaging	Het
Enpp4	A	T	17: 44,099,495	C397S	probably damaging	Het
Entpd3	A	G	9: 120,557,405	T151A	possibly damaging	Het
Ero1lb	A	G	13: 12,574,866	D50G	probably damaging	Het
Fam219a	A	G	4: 41,520,242	*169Q	probably null	Het
Fga	G	A	3: 83,028,562	G32E	probably damaging	Het
Fkbpl	T	C	17: 34,645,359	F34L	probably benign	Het
Fsd2	T	A	7: 81,545,017	D466V	probably damaging	Het
Gja1	A	G	10: 56,388,070	Y175C	possibly damaging	Het
Gm5478	T	A	15: 101,644,624	I338F	probably damaging	Het
Greb1	T	A	12: 16,682,193	Y1589F	probably damaging	Het
Grk3	C	T	5: 112,920,053	E537K	probably damaging	Het
H2-K1	G	T	17: 33,999,500	D127E	probably damaging	Het
Hcrtr2	A	G	9: 76,230,684	L383P	probably benign	Het
Hmcn1	C	T	1: 150,638,900	V3574M	probably benign	Het
Ikbke	A	T	1: 131,270,184		probably null	Het
Il1r2	A	G	1: 40,105,455	K101E	probably benign	Het
Itga11	A	T	9: 62,774,371	H1054L	probably benign	Het
Kif13a	A	T	13: 46,802,711	V539D	probably damaging	Het
Kifc1	G	A	17: 33,886,647	T62I	probably damaging	Het
Klhl28	A	G	12: 64,951,755	Y322H	probably damaging	Het
Klhl6	C	A	16: 19,957,014	D265Y	possibly damaging	Het
Krt86	T	A	15: 101,479,531	C479S	unknown	Het
Lama2	C	T	10: 27,189,131	R1179H	probably benign	Het
Lce6a	A	T	3: 92,620,328	H57Q	probably benign	Het
Lcn11	T	C	2: 25,779,293	V154A	probably benign	Het
Lnpep	A	T	17: 17,538,554	F843I	probably damaging	Het
Lrrc49	C	T	9: 60,666,357	V281I	probably benign	Het
Lrrtm1	C	A	6: 77,244,628	A356E	probably damaging	Het
Map3k1	A	C	13: 111,763,510	H493Q	probably benign	Het
Mcm4	A	T	16: 15,632,115		probably null	Het
Mdn1	C	T	4: 32,712,014	P1844L	probably damaging	Het
Mdn1	T	A	4: 32,732,829	D3076E	probably benign	Het
Med6	A	T	12: 81,589,024	L27H	probably damaging	Het
Mkl2	A	G	16: 13,381,601	E106G	probably damaging	Het
Myo7a	T	A	7: 98,071,946	T1271S	probably damaging	Het
Myo9a	T	A	9: 59,921,793	M2376K	probably benign	Het
Nell2	G	A	15: 95,229,214	T760I	probably benign	Het
Neurod6	C	T	6: 55,679,587	A22T	probably benign	Het
Nlrp10	T	C	7: 108,924,285	K663E	probably benign	Het
Npr3	T	A	15: 11,845,282	K501N	probably benign	Het
Nr2f2	C	A	7: 70,354,712	R264L	probably damaging	Het
Nup35	T	A	2: 80,642,640	M19K	probably benign	Het
Oacyl	A	T	18: 65,747,891	Q592L	possibly damaging	Het
Olfr1061	T	A	2: 86,413,170	N294I	probably damaging	Het
Olfr1243	A	G	2: 89,528,107	V101A	possibly damaging	Het
Olfr1378	C	A	11: 50,969,843	A275D	possibly damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr1484	T	A	19: 13,586,170	Y289N	probably damaging	Het
Olfr17	T	A	7: 107,097,726	I87K	probably benign	Het
Olfr312	T	A	11: 58,831,972	S273T	probably damaging	Het
Olfr470	A	G	7: 107,845,569	S55P	probably damaging	Het
Olfr56	C	G	11: 49,134,722	H177D	probably damaging	Het
Olfr813	T	G	10: 129,857,201	S228A	possibly damaging	Het
Olfr827	T	C	10: 130,211,070	E20G	probably benign	Het
Patl2	T	C	2: 122,126,669	Y128C	probably benign	Het
Pcdhac2	A	G	18: 37,145,889	I641V	probably benign	Het
Polr2b	T	C	5: 77,313,159		probably benign	Het
Pot1b	A	T	17: 55,665,765	I469N	probably damaging	Het
Prdm11	G	T	2: 93,013,785	D33E	possibly damaging	Het
Prkdc	A	G	16: 15,772,057	S2595G	probably damaging	Het
Prrc1	G	A	18: 57,374,550	V259I	possibly damaging	Het
Prrc2b	G	T	2: 32,213,870	R1120L	probably damaging	Het
Prss38	T	C	11: 59,375,543	S30G	possibly damaging	Het
Raph1	A	T	1: 60,525,869	L153Q	probably damaging	Het
Reck	A	G	4: 43,940,719	T843A	probably benign	Het
Rgs7bp	T	C	13: 104,967,102	N164D	probably benign	Het
Rpusd4	C	A	9: 35,267,993	A35D	possibly damaging	Het
Setd1b	T	C	5: 123,159,951		probably benign	Het
Siglec15	G	T	18: 78,046,137	D297E	probably benign	Het
Skint7	T	A	4: 111,977,459	C13*	probably null	Het
Slc5a12	A	G	2: 110,632,743	M395V	probably benign	Het
Sohlh2	C	A	3: 55,207,683	S363Y	probably damaging	Het
Srgap3	A	T	6: 112,723,119	V966E	probably damaging	Het
Stk4	C	T	2: 164,098,542	P266L	probably damaging	Het
Stxbp5l	G	A	16: 37,142,432	H754Y	probably benign	Het
Synpo2l	A	T	14: 20,660,680	M624K	probably damaging	Het
Tas2r136	T	C	6: 132,777,412	I251V	probably benign	Het
Tecpr1	C	T	5: 144,212,590	V340M	probably damaging	Het
Tecta	C	T	9: 42,388,205	G196S	probably damaging	Het
Thsd7a	T	A	6: 12,331,542		probably null	Het
Timeless	T	C	10: 128,246,334	V577A	probably benign	Het
Tln1	A	T	4: 43,553,071	V340E	probably damaging	Het
Tmem132c	T	A	5: 127,563,553	Y929*	probably null	Het
Tmprss7	C	T	16: 45,669,551	R436Q	probably damaging	Het
Tnik	A	C	3: 28,650,159	K989T	probably damaging	Het
Tnxb	T	A	17: 34,671,918	Y412N	probably damaging	Het
Trmt44	A	G	5: 35,568,759		probably null	Het
Trpm6	C	A	19: 18,872,221	T1704N	probably benign	Het
Tsc2	A	T	17: 24,621,712	V391E	probably damaging	Het
Ttc22	T	C	4: 106,639,313	V520A	possibly damaging	Het
Ttc3	T	A	16: 94,456,785	Y1650*	probably null	Het
Vmn2r24	A	G	6: 123,786,934	T257A	probably benign	Het
Xab2	A	C	8: 3,613,605	N408K	probably benign	Het
Zbtb42	A	T	12: 112,680,627	Y412F	probably benign	Het
Zfp282	A	G	6: 47,880,369	N179D	probably damaging	Het
Zfp62	C	A	11: 49,215,400	T106K	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
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
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

Predicted Primers

PCR Primer
(F):5'- TCACCCTCCACATAACCTTGGTAGTAG -3'
(R):5'- CACTTCCAGAGGACAGATGCAGTC -3'

Sequencing Primer
(F):5'- AACCTTGGTAGTAGCAGTCATCC -3'
(R):5'- GGATTCAGTCACTATGAGTACCAG -3'

Posted On

2013-07-11