Mutagenetix > Incidental Mutation

Incidental Mutation 'R6384:Adam34'

515505

Institutional Source

Beutler Lab

Gene Symbol

Adam34

Ensembl Gene

ENSMUSG00000079058

Gene Name

a disintegrin and metallopeptidase domain 34

Synonyms

testase 4

MMRRC Submission

044533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6384 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

43650309-43710049 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 43650799 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 603 (D603V)

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: D603V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: D603V

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: D603V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	T	A	5: 121,652,003 (GRCm38)	T97S	probably benign	Het
Adamts5	C	T	16: 85,862,828 (GRCm38)	V859I	probably benign	Het
Alb	T	A	5: 90,472,640 (GRCm38)	D536E	possibly damaging	Het
Amz2	A	G	11: 109,429,034 (GRCm38)	Y82C	probably damaging	Het
Asxl1	T	C	2: 153,391,824 (GRCm38)		probably null	Het
Bach1	C	T	16: 87,719,857 (GRCm38)	Q429*	probably null	Het
Bcl6	A	G	16: 23,974,865 (GRCm38)	Y111H	probably damaging	Het
Ccnj	T	C	19: 40,846,007 (GRCm38)	V338A	probably benign	Het
Cdca3	C	T	6: 124,832,419 (GRCm38)	P174L	probably damaging	Het
Cdk17	T	C	10: 93,211,965 (GRCm38)	L25P	probably damaging	Het
Cdr2	G	A	7: 120,982,128 (GRCm38)		probably null	Het
Cyp2c38	A	T	19: 39,392,293 (GRCm38)		probably null	Het
Ednra	T	C	8: 77,689,094 (GRCm38)	N175D	probably damaging	Het
Elp3	T	C	14: 65,560,211 (GRCm38)	Y337C	probably damaging	Het
Eml2	G	A	7: 19,201,163 (GRCm38)	V432I	probably damaging	Het
Eps15l1	A	T	8: 72,368,710 (GRCm38)		probably null	Het
F11r	A	G	1: 171,460,940 (GRCm38)	N117S	probably benign	Het
Foxp2	C	T	6: 15,437,948 (GRCm38)	T716I	probably damaging	Het
Gnaq	A	G	19: 16,316,013 (GRCm38)		probably null	Het
Gpat2	G	C	2: 127,431,918 (GRCm38)	G294R	possibly damaging	Het
Gpr158	T	C	2: 21,826,288 (GRCm38)	M733T	probably damaging	Het
Hdac7	G	A	15: 97,811,506 (GRCm38)	Q48*	probably null	Het
Hmga2	G	A	10: 120,370,707 (GRCm38)		probably benign	Het
Itgb7	A	G	15: 102,224,451 (GRCm38)	V142A	probably benign	Het
Kif5a	T	C	10: 127,242,775 (GRCm38)	N334D	probably damaging	Het
Lrrc47	T	C	4: 154,015,860 (GRCm38)	S298P	probably benign	Het
Map3k1	A	T	13: 111,750,530 (GRCm38)	S1415R	probably damaging	Het
Mdn1	T	A	4: 32,670,607 (GRCm38)	L424Q	probably damaging	Het
Numb	A	C	12: 83,803,974 (GRCm38)	L154R	probably damaging	Het
Or8g27	T	C	9: 39,217,978 (GRCm38)	V207A	probably benign	Het
Or8k30	A	G	2: 86,509,037 (GRCm38)	K193E	probably benign	Het
Pdcd5	G	T	7: 35,646,909 (GRCm38)	A92E	possibly damaging	Het
Pdcl2	C	T	5: 76,331,008 (GRCm38)		probably null	Het
Rbfa	T	C	18: 80,192,781 (GRCm38)	Y251C	probably damaging	Het
Rgsl1	G	A	1: 153,827,545 (GRCm38)	T120I	possibly damaging	Het
Serpina3g	A	G	12: 104,240,396 (GRCm38)	Q152R	probably null	Het
Setx	T	C	2: 29,173,558 (GRCm38)	S2289P	probably damaging	Het
Slc6a16	A	G	7: 45,257,593 (GRCm38)		probably null	Het
Slco1a6	C	T	6: 142,109,379 (GRCm38)	D280N	probably benign	Het
Syde2	T	A	3: 145,998,813 (GRCm38)	Y240N	probably damaging	Het
Synpo2	G	A	3: 123,113,049 (GRCm38)	Q873*	probably null	Het
Tlr2	A	G	3: 83,836,994 (GRCm38)	V594A	probably benign	Het
Ttc16	C	T	2: 32,767,549 (GRCm38)	A512T	probably damaging	Het
Tubb5	T	C	17: 35,838,046 (GRCm38)	E3G	probably damaging	Het
Vmn2r112	T	C	17: 22,605,155 (GRCm38)	Y464H	probably damaging	Het
Xcr1	T	A	9: 123,855,782 (GRCm38)	H305L	probably damaging	Het
Yars1	T	G	4: 129,196,978 (GRCm38)		probably null	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	43,652,190 (GRCm38)	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	43,651,141 (GRCm38)	missense	possibly damaging	0.90
IGL01369:Adam34	APN	8	43,651,057 (GRCm38)	missense	probably benign	0.00
IGL01933:Adam34	APN	8	43,651,532 (GRCm38)	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	43,651,016 (GRCm38)	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	43,651,138 (GRCm38)	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	43,651,753 (GRCm38)	missense	probably benign
IGL02306:Adam34	APN	8	43,650,485 (GRCm38)	missense	probably benign	0.44
IGL02661:Adam34	APN	8	43,651,535 (GRCm38)	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	43,651,573 (GRCm38)	missense	probably damaging	1.00
IGL02979:Adam34	APN	8	43,651,371 (GRCm38)	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	43,650,903 (GRCm38)	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	43,650,874 (GRCm38)	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	43,650,874 (GRCm38)	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	43,651,312 (GRCm38)	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	43,675,883 (GRCm38)	intron	probably benign
R0317:Adam34	UTSW	8	43,652,251 (GRCm38)	missense	probably benign	0.14
R0322:Adam34	UTSW	8	43,651,921 (GRCm38)	missense	probably benign	0.00
R0427:Adam34	UTSW	8	43,652,456 (GRCm38)	missense	probably benign	0.15
R0593:Adam34	UTSW	8	43,651,687 (GRCm38)	missense	possibly damaging	0.87
R0837:Adam34	UTSW	8	43,651,500 (GRCm38)	missense	probably benign	0.00
R0927:Adam34	UTSW	8	43,651,584 (GRCm38)	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	43,652,090 (GRCm38)	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	43,650,645 (GRCm38)	nonsense	probably null
R1826:Adam34	UTSW	8	43,651,342 (GRCm38)	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	43,651,806 (GRCm38)	missense	probably benign	0.02
R1943:Adam34	UTSW	8	43,651,815 (GRCm38)	missense	probably damaging	1.00
R1943:Adam34	UTSW	8	43,650,827 (GRCm38)	missense	possibly damaging	0.48
R2147:Adam34	UTSW	8	43,652,501 (GRCm38)	missense	probably benign	0.01
R2150:Adam34	UTSW	8	43,652,501 (GRCm38)	missense	probably benign	0.01
R2206:Adam34	UTSW	8	43,652,237 (GRCm38)	missense	probably benign	0.02
R2207:Adam34	UTSW	8	43,652,237 (GRCm38)	missense	probably benign	0.02
R2268:Adam34	UTSW	8	43,650,610 (GRCm38)	missense	probably benign	0.00
R2349:Adam34	UTSW	8	43,652,378 (GRCm38)	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	43,650,769 (GRCm38)	missense	probably benign
R4158:Adam34	UTSW	8	43,650,817 (GRCm38)	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	43,651,091 (GRCm38)	missense	probably benign	0.18
R5219:Adam34	UTSW	8	43,651,424 (GRCm38)	missense	probably benign
R5398:Adam34	UTSW	8	43,651,241 (GRCm38)	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	43,651,712 (GRCm38)	missense	probably benign	0.43
R5928:Adam34	UTSW	8	43,652,030 (GRCm38)	missense	probably benign	0.08
R6115:Adam34	UTSW	8	43,652,061 (GRCm38)	missense	probably benign
R6319:Adam34	UTSW	8	43,651,915 (GRCm38)	missense	probably benign	0.01
R6706:Adam34	UTSW	8	43,651,442 (GRCm38)	nonsense	probably null
R6992:Adam34	UTSW	8	43,652,605 (GRCm38)	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	43,652,266 (GRCm38)	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	43,651,462 (GRCm38)	missense	probably benign	0.19
R7187:Adam34	UTSW	8	43,652,528 (GRCm38)	missense	probably benign	0.02
R7223:Adam34	UTSW	8	43,652,004 (GRCm38)	missense	probably benign	0.02
R7487:Adam34	UTSW	8	43,651,154 (GRCm38)	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	43,651,171 (GRCm38)	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	43,652,451 (GRCm38)	missense	probably benign	0.00
R7810:Adam34	UTSW	8	43,652,008 (GRCm38)	missense	probably benign	0.01
R7933:Adam34	UTSW	8	43,650,874 (GRCm38)	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	43,650,933 (GRCm38)	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	43,651,622 (GRCm38)	missense	probably benign
R8238:Adam34	UTSW	8	43,650,956 (GRCm38)	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	43,651,609 (GRCm38)	missense	probably benign	0.03
R8339:Adam34	UTSW	8	43,650,603 (GRCm38)	missense	probably benign	0.20
R8381:Adam34	UTSW	8	43,651,810 (GRCm38)	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	43,652,089 (GRCm38)	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	43,651,604 (GRCm38)	missense	probably benign
R8932:Adam34	UTSW	8	43,652,155 (GRCm38)	missense	probably benign	0.19
R8936:Adam34	UTSW	8	43,651,402 (GRCm38)	missense	probably benign	0.00
R8981:Adam34	UTSW	8	43,650,803 (GRCm38)	missense	probably benign	0.05
R9040:Adam34	UTSW	8	43,650,326 (GRCm38)	unclassified	probably benign
R9105:Adam34	UTSW	8	43,650,748 (GRCm38)	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	43,651,379 (GRCm38)	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	43,652,206 (GRCm38)	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	43,651,039 (GRCm38)	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	43,651,729 (GRCm38)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATACTACCTCCATGGCCACG -3'
(R):5'- ACCGCTTTGGAAACTGTGG -3'

Sequencing Primer
(F):5'- ATGGCCACGTAGTTGACAGTC -3'
(R):5'- CTTTGGAAACTGTGGCAATGATAGC -3'

Posted On

2018-05-04