Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01296:Adam34'

73103

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: 0.057) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

44103346-44118597 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44104178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 489 (V489A)

Ref Sequence

ENSEMBL: ENSMUSP00000148332 (fasta)

Gene Model

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

AlphaFold

A2RSG8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110411
AA Change: V489A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: V489A

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

possibly damaging
Transcript: ENSMUST00000212185
AA Change: V489A

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)

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
Acadl	A	G	1: 66,880,864 (GRCm39)	S301P	probably damaging	Het
Adcy8	G	A	15: 64,655,628 (GRCm39)	T617I	probably damaging	Het
Aggf1	T	C	13: 95,490,479 (GRCm39)	D605G	probably damaging	Het
Atp10a	T	A	7: 58,463,373 (GRCm39)	F969I	probably benign	Het
Becn1	A	T	11: 101,182,277 (GRCm39)	N97K	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Crtac1	A	T	19: 42,272,652 (GRCm39)	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,192,319 (GRCm39)	K412E	probably damaging	Het
Dlg2	T	A	7: 91,589,267 (GRCm39)	I327N	probably damaging	Het
Ehf	T	A	2: 103,098,500 (GRCm39)		probably null	Het
Elavl4	T	C	4: 110,063,809 (GRCm39)	N264S	probably benign	Het
Enpp2	A	T	15: 54,739,065 (GRCm39)	I406N	probably damaging	Het
F10	A	T	8: 13,105,383 (GRCm39)	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,576,177 (GRCm39)	I194T	possibly damaging	Het
Fcgbp	T	C	7: 27,789,072 (GRCm39)	V546A	probably benign	Het
Fras1	A	T	5: 96,821,557 (GRCm39)	Q1438L	probably null	Het
Gm43638	T	C	5: 87,608,451 (GRCm39)	I463V	probably benign	Het
H2-T10	T	C	17: 36,431,602 (GRCm39)	D84G	probably benign	Het
Itpr1	T	C	6: 108,376,322 (GRCm39)	F1262L	probably damaging	Het
Lama1	A	G	17: 68,052,046 (GRCm39)	N335D	probably benign	Het
Lasp1	T	C	11: 97,727,016 (GRCm39)	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,567,345 (GRCm39)	I135L	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Mctp2	T	C	7: 71,878,274 (GRCm39)	K268R	probably benign	Het
Nbea	A	T	3: 55,938,957 (GRCm39)	H710Q	probably benign	Het
Notch3	G	A	17: 32,385,731 (GRCm39)	R13C	unknown	Het
Ogfod1	A	T	8: 94,782,299 (GRCm39)		probably benign	Het
Or1j11	A	G	2: 36,311,716 (GRCm39)	Y102C	probably benign	Het
Or5b111	A	G	19: 13,291,490 (GRCm39)	L53P	probably damaging	Het
Or8d2	T	C	9: 38,759,548 (GRCm39)	I46T	probably damaging	Het
Pgm3	A	G	9: 86,443,932 (GRCm39)	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,694,068 (GRCm39)	I681F	probably damaging	Het
Prss23	T	C	7: 89,159,095 (GRCm39)	K325E	possibly damaging	Het
Psmd7	T	A	8: 108,313,249 (GRCm39)		probably benign	Het
Rfx2	T	A	17: 57,115,317 (GRCm39)	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,203,141 (GRCm39)	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,505,875 (GRCm39)	R1029H	probably damaging	Het
Septin10	A	G	10: 59,002,422 (GRCm39)	V391A	probably benign	Het
Skint6	A	G	4: 113,093,637 (GRCm39)	F169L	probably benign	Het
Slc44a4	C	T	17: 35,140,674 (GRCm39)	T289I	probably benign	Het
Spata31e5	T	C	1: 28,816,137 (GRCm39)	I632V	probably benign	Het
Srl	T	C	16: 4,315,546 (GRCm39)	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,535,256 (GRCm39)		noncoding transcript	Het
Sult1b1	T	C	5: 87,662,815 (GRCm39)	D295G	probably benign	Het
Tmprss7	A	G	16: 45,504,937 (GRCm39)	V151A	probably damaging	Het
Trmo	A	G	4: 46,387,589 (GRCm39)	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,285,447 (GRCm39)	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,795,061 (GRCm39)	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690 (GRCm39)	H324R	possibly damaging	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
IGL01369:Adam34	APN	8	44,104,094 (GRCm39)	missense	probably benign	0.00
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