Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01369:Adam34'

76034

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: 0.074) question?

Stock #

IGL01369

Quality Score

Status

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44104094 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Methionine at position 517 (K517M)

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: K517M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: K517M

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: K517M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

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
Aadacl4fm4	T	C	4: 144,401,215 (GRCm39)	T90A	possibly damaging	Het
Abi2	A	G	1: 60,476,215 (GRCm39)	T96A	probably damaging	Het
Atm	A	T	9: 53,426,617 (GRCm39)	I547N	probably benign	Het
Cadm4	A	T	7: 24,198,947 (GRCm39)	D74V	possibly damaging	Het
Caprin1	G	A	2: 103,599,210 (GRCm39)	P46S	probably damaging	Het
Cbl	A	T	9: 44,112,358 (GRCm39)	Y112*	probably null	Het
Ccdc180	T	C	4: 45,900,256 (GRCm39)	V246A	probably benign	Het
Chd1	A	T	17: 15,975,259 (GRCm39)	E1103V	probably damaging	Het
Clock	G	A	5: 76,384,933 (GRCm39)	P428L	probably benign	Het
Cntn2	T	A	1: 132,443,843 (GRCm39)	I979F	probably benign	Het
Col2a1	A	G	15: 97,875,707 (GRCm39)	S1193P	unknown	Het
Fga	A	T	3: 82,937,507 (GRCm39)	Y128F	probably benign	Het
Glyr1	A	T	16: 4,838,152 (GRCm39)	D365E	probably benign	Het
Gmppb	G	A	9: 107,928,446 (GRCm39)		probably null	Het
Gmps	A	T	3: 63,909,013 (GRCm39)	H505L	probably benign	Het
Hexim2	A	G	11: 103,029,464 (GRCm39)	N172S	probably benign	Het
Hmgcr	T	C	13: 96,803,030 (GRCm39)	E65G	probably null	Het
Hsd17b4	T	C	18: 50,305,100 (GRCm39)	S446P	possibly damaging	Het
Kirrel3	C	T	9: 34,927,737 (GRCm39)	T382I	probably benign	Het
Klra7	A	T	6: 130,203,498 (GRCm39)	Y169*	probably null	Het
Lmbrd1	T	C	1: 24,745,055 (GRCm39)		probably benign	Het
Loxhd1	A	G	18: 77,416,897 (GRCm39)	E211G	possibly damaging	Het
Maf1	T	A	15: 76,236,892 (GRCm39)	F44I	probably damaging	Het
Mmd2	A	G	5: 142,560,984 (GRCm39)	S84P	probably damaging	Het
Morc2b	T	C	17: 33,357,139 (GRCm39)	E211G	probably benign	Het
Mov10l1	T	C	15: 88,909,040 (GRCm39)		probably benign	Het
Mycbp2	C	A	14: 103,392,946 (GRCm39)	C3205F	possibly damaging	Het
Myg1	G	A	15: 102,242,773 (GRCm39)	V155M	probably benign	Het
Ncam2	A	G	16: 81,258,459 (GRCm39)	N247S	probably benign	Het
Nek11	A	G	9: 105,177,259 (GRCm39)		probably null	Het
Nt5dc3	T	A	10: 86,656,139 (GRCm39)		probably benign	Het
Nudcd3	A	G	11: 6,100,551 (GRCm39)	Y134H	probably damaging	Het
Ogfod1	T	C	8: 94,789,719 (GRCm39)		probably null	Het
Or5b99	A	T	19: 12,977,125 (GRCm39)	L258F	possibly damaging	Het
Orm2	T	C	4: 63,281,215 (GRCm39)	V51A	probably benign	Het
P2ry14	T	C	3: 59,022,756 (GRCm39)	I244V	probably damaging	Het
Poll	A	G	19: 45,542,115 (GRCm39)	V397A	probably damaging	Het
Ppdpf	C	A	2: 180,829,687 (GRCm39)		probably benign	Het
Ptch1	T	C	13: 63,659,495 (GRCm39)	E1249G	probably benign	Het
Rdh16f1	C	A	10: 127,595,844 (GRCm39)	T13K	probably benign	Het
Rrp1	G	A	10: 78,240,905 (GRCm39)		probably benign	Het
Sec14l2	A	G	11: 4,053,432 (GRCm39)	M346T	probably benign	Het
Sh2d2a	A	T	3: 87,759,136 (GRCm39)	Q246L	probably benign	Het
Slc44a1	G	A	4: 53,491,448 (GRCm39)	D62N	probably damaging	Het
Snx22	A	G	9: 65,976,060 (GRCm39)	Y58H	probably damaging	Het
Spata31f1a	T	C	4: 42,852,548 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,599,779 (GRCm39)	D19104V	probably damaging	Het
Ugt2a3	T	C	5: 87,474,979 (GRCm39)	S422G	probably damaging	Het
Zfyve19	G	T	2: 119,041,094 (GRCm39)		probably benign	Het

Other mutations in Adam34

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00545:Adam34	APN	8	44,105,227 (GRCm39)	missense	possibly damaging	0.91
IGL01296:Adam34	APN	8	44,104,178 (GRCm39)	missense	possibly damaging	0.90
IGL01933:Adam34	APN	8	44,104,569 (GRCm39)	missense	probably damaging	1.00
IGL01938:Adam34	APN	8	44,104,053 (GRCm39)	missense	probably damaging	1.00
IGL02112:Adam34	APN	8	44,104,175 (GRCm39)	missense	possibly damaging	0.46
IGL02182:Adam34	APN	8	44,104,790 (GRCm39)	missense	probably benign
IGL02306:Adam34	APN	8	44,103,522 (GRCm39)	missense	probably benign	0.44
IGL02661:Adam34	APN	8	44,104,572 (GRCm39)	missense	probably damaging	1.00
IGL02888:Adam34	APN	8	44,104,610 (GRCm39)	missense	probably damaging	1.00
IGL02979:Adam34	APN	8	44,104,408 (GRCm39)	missense	probably damaging	1.00
IGL03073:Adam34	APN	8	44,103,940 (GRCm39)	missense	probably damaging	0.99
BB010:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
BB020:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
PIT4453001:Adam34	UTSW	8	44,104,349 (GRCm39)	missense	probably damaging	1.00
R0060:Adam34	UTSW	8	44,128,920 (GRCm39)	intron	probably benign
R0317:Adam34	UTSW	8	44,105,288 (GRCm39)	missense	probably benign	0.14
R0322:Adam34	UTSW	8	44,104,958 (GRCm39)	missense	probably benign	0.00
R0427:Adam34	UTSW	8	44,105,493 (GRCm39)	missense	probably benign	0.15
R0593:Adam34	UTSW	8	44,104,724 (GRCm39)	missense	possibly damaging	0.87
R0837:Adam34	UTSW	8	44,104,537 (GRCm39)	missense	probably benign	0.00
R0927:Adam34	UTSW	8	44,104,621 (GRCm39)	missense	probably damaging	1.00
R1634:Adam34	UTSW	8	44,105,127 (GRCm39)	missense	possibly damaging	0.81
R1653:Adam34	UTSW	8	44,103,682 (GRCm39)	nonsense	probably null
R1826:Adam34	UTSW	8	44,104,379 (GRCm39)	missense	probably damaging	1.00
R1873:Adam34	UTSW	8	44,104,843 (GRCm39)	missense	probably benign	0.02
R1943:Adam34	UTSW	8	44,104,852 (GRCm39)	missense	probably damaging	1.00
R1943:Adam34	UTSW	8	44,103,864 (GRCm39)	missense	possibly damaging	0.48
R2147:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2150:Adam34	UTSW	8	44,105,538 (GRCm39)	missense	probably benign	0.01
R2206:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2207:Adam34	UTSW	8	44,105,274 (GRCm39)	missense	probably benign	0.02
R2268:Adam34	UTSW	8	44,103,647 (GRCm39)	missense	probably benign	0.00
R2349:Adam34	UTSW	8	44,105,415 (GRCm39)	missense	probably damaging	0.99
R3983:Adam34	UTSW	8	44,103,806 (GRCm39)	missense	probably benign
R4158:Adam34	UTSW	8	44,103,854 (GRCm39)	missense	probably damaging	1.00
R4179:Adam34	UTSW	8	44,104,128 (GRCm39)	missense	probably benign	0.18
R5219:Adam34	UTSW	8	44,104,461 (GRCm39)	missense	probably benign
R5398:Adam34	UTSW	8	44,104,278 (GRCm39)	missense	probably damaging	1.00
R5611:Adam34	UTSW	8	44,104,749 (GRCm39)	missense	probably benign	0.43
R5928:Adam34	UTSW	8	44,105,067 (GRCm39)	missense	probably benign	0.08
R6115:Adam34	UTSW	8	44,105,098 (GRCm39)	missense	probably benign
R6319:Adam34	UTSW	8	44,104,952 (GRCm39)	missense	probably benign	0.01
R6384:Adam34	UTSW	8	44,103,836 (GRCm39)	missense	probably benign	0.00
R6706:Adam34	UTSW	8	44,104,479 (GRCm39)	nonsense	probably null
R6992:Adam34	UTSW	8	44,105,642 (GRCm39)	start codon destroyed	probably null	1.00
R7032:Adam34	UTSW	8	44,105,303 (GRCm39)	missense	probably damaging	1.00
R7151:Adam34	UTSW	8	44,104,499 (GRCm39)	missense	probably benign	0.19
R7187:Adam34	UTSW	8	44,105,565 (GRCm39)	missense	probably benign	0.02
R7223:Adam34	UTSW	8	44,105,041 (GRCm39)	missense	probably benign	0.02
R7487:Adam34	UTSW	8	44,104,191 (GRCm39)	missense	probably damaging	1.00
R7726:Adam34	UTSW	8	44,104,208 (GRCm39)	missense	probably damaging	0.99
R7789:Adam34	UTSW	8	44,105,488 (GRCm39)	missense	probably benign	0.00
R7810:Adam34	UTSW	8	44,105,045 (GRCm39)	missense	probably benign	0.01
R7933:Adam34	UTSW	8	44,103,911 (GRCm39)	missense	probably damaging	1.00
R8192:Adam34	UTSW	8	44,103,970 (GRCm39)	missense	probably damaging	1.00
R8231:Adam34	UTSW	8	44,104,659 (GRCm39)	missense	probably benign
R8238:Adam34	UTSW	8	44,103,993 (GRCm39)	missense	probably damaging	1.00
R8259:Adam34	UTSW	8	44,104,646 (GRCm39)	missense	probably benign	0.03
R8339:Adam34	UTSW	8	44,103,640 (GRCm39)	missense	probably benign	0.20
R8381:Adam34	UTSW	8	44,104,847 (GRCm39)	missense	possibly damaging	0.70
R8670:Adam34	UTSW	8	44,105,126 (GRCm39)	missense	possibly damaging	0.91
R8693:Adam34	UTSW	8	44,104,641 (GRCm39)	missense	probably benign
R8932:Adam34	UTSW	8	44,105,192 (GRCm39)	missense	probably benign	0.19
R8936:Adam34	UTSW	8	44,104,439 (GRCm39)	missense	probably benign	0.00
R8981:Adam34	UTSW	8	44,103,840 (GRCm39)	missense	probably benign	0.05
R9040:Adam34	UTSW	8	44,103,363 (GRCm39)	unclassified	probably benign
R9105:Adam34	UTSW	8	44,103,785 (GRCm39)	missense	probably damaging	1.00
R9305:Adam34	UTSW	8	44,104,416 (GRCm39)	missense	probably damaging	1.00
R9321:Adam34	UTSW	8	44,105,243 (GRCm39)	missense	probably damaging	1.00
R9641:Adam34	UTSW	8	44,104,076 (GRCm39)	missense	probably damaging	0.97
R9644:Adam34	UTSW	8	44,104,766 (GRCm39)	missense	probably damaging	0.96

Posted On

2013-10-07