Mutagenetix > Incidental Mutation

Incidental Mutation 'R0837:Adam34'

77994

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

039016-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0837 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

43650309-43710049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43651500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 369 (K369N)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

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

AlphaFold

A2RSG8

Predicted Effect

probably benign
Transcript: ENSMUST00000110411
AA Change: K369N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: K369N

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

probably benign
Transcript: ENSMUST00000212185
AA Change: K369N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

96% (44/46)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563I02Rik	T	C	14: 60,095,926		probably benign	Het
4930579C12Rik	A	G	9: 89,168,207		noncoding transcript	Het
Ap1g1	T	C	8: 109,851,065	W481R	probably damaging	Het
Bicdl1	G	A	5: 115,731,292	P26S	probably benign	Het
Cacna1c	A	T	6: 118,630,270	C1224*	probably null	Het
Cpsf2	C	T	12: 101,997,242		probably benign	Het
Cyp11b2	G	A	15: 74,853,641	R210W	probably damaging	Het
Dock7	C	T	4: 98,989,258	V1048I	probably benign	Het
Dync2h1	C	A	9: 7,077,979	A2908S	probably benign	Het
Elane	A	G	10: 79,887,108	D116G	probably damaging	Het
Epb41l2	C	T	10: 25,507,816	R153C	probably damaging	Het
Gucy2c	G	A	6: 136,722,420	P617L	probably damaging	Het
Hist2h2ab	G	A	3: 96,220,123	A70T	probably damaging	Het
Kcnq4	T	A	4: 120,746,861	I106L	probably benign	Het
Man2b1	A	G	8: 85,096,829	N931D	possibly damaging	Het
Mthfs	A	G	9: 89,215,390	E100G	probably damaging	Het
Mto1	A	T	9: 78,473,790	I639F	probably damaging	Het
Myo15	A	G	11: 60,487,251	E177G	probably damaging	Het
Naip5	T	A	13: 100,230,743	M282L	probably benign	Het
Olfr433	A	G	1: 174,042,487	D179G	probably damaging	Het
Pik3c2g	G	A	6: 139,957,699		probably benign	Het
Prl7d1	T	A	13: 27,714,338	M64L	probably benign	Het
Prnp	A	T	2: 131,936,524	N32I	probably damaging	Het
Ptpn11	C	T	5: 121,149,111	V406I	probably benign	Het
Rab40c	G	A	17: 25,884,693	T151I	probably damaging	Het
Rb1cc1	T	A	1: 6,234,271		probably null	Het
Rnf145	T	C	11: 44,524,988	V10A	probably benign	Het
Rtn4rl2	T	C	2: 84,880,692	N70S	probably damaging	Het
Scaper	A	T	9: 55,859,042	C483*	probably null	Het
Sema4a	T	A	3: 88,453,098	Q58L	possibly damaging	Het
Slf1	T	C	13: 77,100,948		probably null	Het
Sycp1	G	T	3: 102,915,245	N364K	probably benign	Het
Tenm4	T	C	7: 96,896,275		probably benign	Het
Tnfaip2	A	G	12: 111,450,707	T537A	probably damaging	Het
Trappc12	A	G	12: 28,703,597	I573T	possibly damaging	Het
Ugt2b38	G	A	5: 87,411,773	T420I	probably damaging	Het
Ulk1	A	T	5: 110,789,545		probably benign	Het
Unc80	G	A	1: 66,648,944	C2367Y	possibly damaging	Het
Usp7	C	A	16: 8,703,502	G135C	probably damaging	Het
Vmn2r103	A	G	17: 19,793,927	Y327C	probably damaging	Het
Vmn2r28	T	A	7: 5,488,027	H407L	probably damaging	Het
Zfp804a	A	C	2: 82,259,162	T1112P	probably damaging	Het
Zfr2	A	G	10: 81,245,408	K431E	probably damaging	Het
Zfy1	A	T	Y: 725,850	Y638*	probably null	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	43652190	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	43651141	missense	possibly damaging	0.90
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
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

Predicted Primers

PCR Primer
(F):5'- ACACAGTCGCTGCTACAGCAAG -3'
(R):5'- TGAGAATTGGTGGACGCATCACAG -3'

Sequencing Primer
(F):5'- TGTAAACAGGATTCAGTGCTCCC -3'
(R):5'- CATACACCTTTTTGTCAGACGTAG -3'

Posted On

2013-10-16