Mutagenetix > Incidental Mutation

Incidental Mutation 'R4179:Adam34'

319633

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

041015-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R4179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

43650309-43710049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43651091 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 506 (M506V)

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: M506V

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: M506V

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: M506V

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	A	T	7: 144,650,505	M290K	probably damaging	Het
Arrdc2	A	T	8: 70,837,177	L34Q	probably damaging	Het
Cdadc1	G	T	14: 59,592,486	T77N	probably benign	Het
Cmtr2	C	G	8: 110,221,037		probably null	Het
Cnot2	A	T	10: 116,498,143	V374E	possibly damaging	Het
Crnn	T	C	3: 93,146,813	M1T	probably null	Het
Ctsb	A	G	14: 63,133,452	N38D	probably benign	Het
Dock10	A	C	1: 80,510,417	S2010A	probably benign	Het
Dqx1	A	G	6: 83,059,479	T155A	probably benign	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Eci1	T	C	17: 24,436,277	W119R	probably damaging	Het
Foxo1	C	A	3: 52,345,419	D334E	probably benign	Het
Gck	T	C	11: 5,910,295	T116A	probably benign	Het
Gcn1l1	T	C	5: 115,588,050	V588A	probably benign	Het
Gm7168	A	G	17: 13,949,003	I211V	probably benign	Het
Idh3g	A	T	X: 73,782,004		probably null	Het
Jag1	A	G	2: 137,101,658	F206S	probably damaging	Het
Loxl3	G	A	6: 83,037,584	V158I	probably benign	Het
Ly6g	A	G	15: 75,155,718		probably null	Het
Myo1b	A	G	1: 51,778,526	F532L	probably damaging	Het
Naip1	T	A	13: 100,426,176	N827I	probably damaging	Het
Nlrp9c	G	A	7: 26,384,661	H498Y	possibly damaging	Het
Olfr149	A	G	9: 39,702,091	I226T	probably benign	Het
Pak2	C	G	16: 32,052,187	G59A	probably benign	Het
Pcdha2	T	A	18: 36,941,476	L720Q	probably damaging	Het
Pcdhb9	T	A	18: 37,401,115	M54K	probably benign	Het
Pde2a	A	G	7: 101,481,383	*71W	probably null	Het
Pkd2l1	T	C	19: 44,192,181	N32D	probably benign	Het
Pkhd1l1	A	C	15: 44,523,649	Y1306S	probably benign	Het
Plec	T	C	15: 76,180,215	K1953R	possibly damaging	Het
Plekhg4	T	A	8: 105,381,398	V1029E	possibly damaging	Het
Prkd1	C	A	12: 50,366,448	G647C	probably damaging	Het
Ptch1	C	T	13: 63,534,329	R537H	probably damaging	Het
Qser1	A	G	2: 104,776,384	I1510T	probably benign	Het
Ranbp3l	T	C	15: 9,057,198	I314T	possibly damaging	Het
Rgs9	C	A	11: 109,281,448		probably null	Het
Riok1	T	C	13: 38,048,955	F216L	probably damaging	Het
Rrm1	T	A	7: 102,457,198	I308N	probably damaging	Het
Serpina1f	A	T	12: 103,691,920	M242K	probably benign	Het
Smox	G	A	2: 131,524,850	M576I	possibly damaging	Het
Spaca7	A	T	8: 12,586,435	N87I	probably damaging	Het
Spink5	A	T	18: 43,987,867	Q296L	probably benign	Het
Sspo	T	C	6: 48,498,395		probably null	Het
Sult2b1	T	A	7: 45,735,311	I114F	probably damaging	Het
Tex12	T	C	9: 50,559,287		probably null	Het
Tonsl	A	G	15: 76,624,475	L26P	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Tsen54	T	C	11: 115,820,852	V365A	probably damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Usp47	T	C	7: 112,087,884	L683P	probably damaging	Het
Wdr18	T	C	10: 79,965,041	L146P	probably damaging	Het
Zfp709	A	G	8: 71,889,906	Y392C	probably damaging	Het
Zranb3	A	T	1: 127,960,864	I828N	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
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'- CACATTCTCACACTGAATTCGC -3'
(R):5'- CAGCGACTGTGTTCTCAAACC -3'

Sequencing Primer
(F):5'- TGAATTCGCCCACAGAGTAC -3'
(R):5'- AAACCTGGTGCTCAATGTGC -3'

Posted On

2015-06-10