Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Adam34'

73103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

43650309-43710049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 43651141 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 489 (V489A)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110411] [ENSMUST00000212185]

AlphaFold

A2RSG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110411
AA Change: V489A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: V489A

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	159	5.9e-20	PFAM
Pfam:Reprolysin_5	205	377	1.6e-16	PFAM
Pfam:Reprolysin_4	205	393	3e-12	PFAM
Pfam:Reprolysin	207	397	9.4e-49	PFAM
Pfam:Reprolysin_2	224	389	1e-14	PFAM
Pfam:Reprolysin_3	231	352	2.7e-14	PFAM
DISIN	416	491	3.38e-40	SMART
ACR	492	628	9.18e-62	SMART
transmembrane domain	685	707	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000212185
AA Change: V489A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Tmprss7	A	G	16: 45,684,574	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly damaging	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	43652190	missense	possibly damaging	0.91
IGL01369:Adam34	APN	8	43651057	missense	probably benign	0.00
IGL01933:Adam34	APN	8	43651532	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	43651016	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	43651138	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	43651753	missense	probably benign
IGL02306:Adam34	APN	8	43650485	missense	probably benign	0.44
IGL02661:Adam34	APN	8	43651535	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	43651573	missense	probably damaging	1.00
IGL02979:Adam34	APN	8	43651371	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	43650903	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	43650874	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	43650874	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	43651312	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	43675883	intron	probably benign
R0317:Adam34	UTSW	8	43652251	missense	probably benign	0.14
R0322:Adam34	UTSW	8	43651921	missense	probably benign	0.00
R0427:Adam34	UTSW	8	43652456	missense	probably benign	0.15
R0593:Adam34	UTSW	8	43651687	missense	possibly damaging	0.87
R0837:Adam34	UTSW	8	43651500	missense	probably benign	0.00
R0927:Adam34	UTSW	8	43651584	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	43652090	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	43650645	nonsense	probably null
R1826:Adam34	UTSW	8	43651342	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	43651806	missense	probably benign	0.02
R1943:Adam34	UTSW	8	43650827	missense	possibly damaging	0.48
R1943:Adam34	UTSW	8	43651815	missense	probably damaging	1.00
R2147:Adam34	UTSW	8	43652501	missense	probably benign	0.01
R2150:Adam34	UTSW	8	43652501	missense	probably benign	0.01
R2206:Adam34	UTSW	8	43652237	missense	probably benign	0.02
R2207:Adam34	UTSW	8	43652237	missense	probably benign	0.02
R2268:Adam34	UTSW	8	43650610	missense	probably benign	0.00
R2349:Adam34	UTSW	8	43652378	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	43650769	missense	probably benign
R4158:Adam34	UTSW	8	43650817	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	43651091	missense	probably benign	0.18
R5219:Adam34	UTSW	8	43651424	missense	probably benign
R5398:Adam34	UTSW	8	43651241	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	43651712	missense	probably benign	0.43
R5928:Adam34	UTSW	8	43652030	missense	probably benign	0.08
R6115:Adam34	UTSW	8	43652061	missense	probably benign
R6319:Adam34	UTSW	8	43651915	missense	probably benign	0.01
R6384:Adam34	UTSW	8	43650799	missense	probably benign	0.00
R6706:Adam34	UTSW	8	43651442	nonsense	probably null
R6992:Adam34	UTSW	8	43652605	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	43652266	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	43651462	missense	probably benign	0.19
R7187:Adam34	UTSW	8	43652528	missense	probably benign	0.02
R7223:Adam34	UTSW	8	43652004	missense	probably benign	0.02
R7487:Adam34	UTSW	8	43651154	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	43651171	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	43652451	missense	probably benign	0.00
R7810:Adam34	UTSW	8	43652008	missense	probably benign	0.01
R7933:Adam34	UTSW	8	43650874	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	43650933	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	43651622	missense	probably benign
R8238:Adam34	UTSW	8	43650956	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	43651609	missense	probably benign	0.03
R8339:Adam34	UTSW	8	43650603	missense	probably benign	0.20
R8381:Adam34	UTSW	8	43651810	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	43652089	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	43651604	missense	probably benign
R8932:Adam34	UTSW	8	43652155	missense	probably benign	0.19
R8936:Adam34	UTSW	8	43651402	missense	probably benign	0.00
R8981:Adam34	UTSW	8	43650803	missense	probably benign	0.05
R9040:Adam34	UTSW	8	43650326	unclassified	probably benign
R9105:Adam34	UTSW	8	43650748	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	43651379	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	43652206	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	43651039	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	43651729	missense	probably damaging	0.96

Posted On

2013-10-07