Mutagenetix > Incidental Mutation

Incidental Mutation 'R8192:Adam34'

635224

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

067615-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R8192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43650309-43710049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43650933 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 558 (D558E)

Ref Sequence

ENSEMBL: ENSMUSP00000106041 (fasta)

Gene Model

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

AlphaFold

A2RSG8

Predicted Effect

probably damaging
Transcript: ENSMUST00000110411
AA Change: D558E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: D558E

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 damaging
Transcript: ENSMUST00000212185
AA Change: D558E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alox15	T	A	11: 70,350,910	E48D	probably benign	Het
Alyref	T	C	11: 120,597,696	E102G	probably benign	Het
Bach2	A	G	4: 32,562,294	S254G	probably benign	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bcl2l13	A	G	6: 120,876,306	E184G	possibly damaging	Het
Best1	T	A	19: 9,986,300	I506F	possibly damaging	Het
Cd177	T	A	7: 24,754,302	D388V	probably benign	Het
Cep350	T	C	1: 155,940,783	K329E	possibly damaging	Het
Clasrp	T	C	7: 19,595,462	N65S	possibly damaging	Het
Cobl	T	C	11: 12,249,745	R1301G	probably benign	Het
Cul9	T	C	17: 46,538,347	E624G	probably benign	Het
Cyp21a1	A	T	17: 34,803,659	Y109N	probably damaging	Het
Dbf4	A	G	5: 8,398,134	S359P	probably benign	Het
Ddx60	A	G	8: 61,977,968	T846A	probably damaging	Het
Dnah11	A	G	12: 118,012,446	V2746A	probably benign	Het
Dnah12	G	A	14: 26,706,881	A221T	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dock2	A	G	11: 34,732,339		probably null	Het
Dpy19l1	T	C	9: 24,450,727	I119V	possibly damaging	Het
Dsg1c	A	G	18: 20,266,198	T120A	probably damaging	Het
Dzank1	T	C	2: 144,490,225	H397R	probably benign	Het
Fam35a	A	T	14: 34,245,216	S680T	probably benign	Het
Gaa	G	T	11: 119,270,409	A93S	possibly damaging	Het
Galnt4	G	A	10: 99,109,256	R281H	probably benign	Het
Gm13103	G	A	4: 143,851,539	W123*	probably null	Het
Gm3250	T	C	10: 77,782,457	E29G	unknown	Het
Gm5065	T	A	7: 5,359,596	D75E	possibly damaging	Het
H13	T	G	2: 152,669,602	D7E	probably benign	Het
H60c	T	A	10: 3,259,781	I140F	probably benign	Het
Hsd3b2	T	C	3: 98,713,592	N49S	probably benign	Het
Klhl11	G	T	11: 100,464,096	P300T	probably benign	Het
Knop1	C	A	7: 118,853,146	V117L		Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Lrrc9	A	T	12: 72,449,389	I13F	probably damaging	Het
Macf1	A	G	4: 123,440,597	S4456P	probably damaging	Het
Mkrn1	A	T	6: 39,399,355	V439D	probably damaging	Het
Muc2	T	A	7: 141,751,478	V612D		Het
Nrxn3	A	G	12: 90,204,795	N967D	probably benign	Het
Olfr1173	A	C	2: 88,274,944	V35G	probably damaging	Het
Olfr978	T	A	9: 39,994,171	D120E	probably damaging	Het
Oprm1	C	T	10: 6,838,417	P391S	probably benign	Het
Parp14	T	A	16: 35,871,214	E47V	probably benign	Het
Pikfyve	A	G	1: 65,246,395	E931G	possibly damaging	Het
Plcz1	A	T	6: 140,023,260	C151S	probably damaging	Het
Rbm26	A	G	14: 105,142,689		probably null	Het
Rffl	G	T	11: 82,812,723		probably null	Het
Sc5d	T	C	9: 42,259,798	I32V	probably benign	Het
Scube1	A	G	15: 83,629,382		probably null	Het
Slc12a6	A	G	2: 112,351,377	Y714C	probably damaging	Het
Slc26a3	A	G	12: 31,468,542	I670V	probably benign	Het
Slc8a3	A	T	12: 81,199,681	V866D	probably damaging	Het
Slco3a1	A	T	7: 74,320,590	M423K	probably benign	Het
Smc6	A	G	12: 11,299,335	E773G	probably benign	Het
Son	A	G	16: 91,655,549	T395A	possibly damaging	Het
Ss18l1	T	C	2: 180,059,362	S290P	probably damaging	Het
Tcof1	A	C	18: 60,843,303	V78G	probably damaging	Het
Thsd1	G	A	8: 22,243,902	V322M	probably benign	Het
Tln2	A	T	9: 67,346,529	C753*	probably null	Het
Trav6n-6	T	A	14: 53,133,040	F83I	probably damaging	Het
Ttc39d	A	G	17: 80,216,578	H222R	probably damaging	Het
Ugt2b35	T	A	5: 87,001,443	S184R	probably damaging	Het
Upf1	A	G	8: 70,340,644	L288P	probably benign	Het
Zfp442	T	C	2: 150,408,709	I424M	unknown	Het
Zfp580	T	C	7: 5,053,115	V100A	probably benign	Het
Zfpm1	C	A	8: 122,332,094	P151Q	probably damaging	Het
Zfr2	C	T	10: 81,242,815	P294S	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
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
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
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'- CAAGTTGTGCCATCGCTCAC -3'
(R):5'- AACTTCCGCTGAGTGTCCAG -3'

Sequencing Primer
(F):5'- ACTGCTCCAACGTCATCTATGGTG -3'
(R):5'- AGACGGAATCCCTTGCAGTG -3'

Posted On

2020-07-13