Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02030:Adam29'

184328

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam29

Ensembl Gene

ENSMUSG00000046258

Gene Name

a disintegrin and metallopeptidase domain 29

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

IGL02030

Quality Score

Status

Chromosome

Chromosomal Location

56323947-56359983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56325157 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 432 (M432I)

Ref Sequence

ENSEMBL: ENSMUSP00000054292 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053441]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053441
AA Change: M432I

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: M432I

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	33	159	1.9e-17	PFAM
Pfam:Reprolysin_4	203	394	3.3e-10	PFAM
Pfam:Reprolysin_5	203	403	6.9e-15	PFAM
Pfam:Reprolysin	205	395	1.5e-48	PFAM
Pfam:Reprolysin_2	226	386	7.4e-11	PFAM
Pfam:Reprolysin_3	228	349	1.4e-11	PFAM
DISIN	412	487	4.26e-37	SMART
ACR	488	624	2.85e-58	SMART
low complexity region	642	651	N/A	INTRINSIC
transmembrane domain	683	705	N/A	INTRINSIC
low complexity region	713	746	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. [provided by RefSeq, May 2016]

Allele List at MGI

All alleles(1) : Targeted, knock-out(1)

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam26a	T	C	8: 44,021,894 (GRCm39)	D532G	probably benign	Het
Cbs	A	G	17: 31,844,463 (GRCm39)		probably null	Het
Ccer1	A	G	10: 97,529,472 (GRCm39)	Y45C	unknown	Het
Clu	G	A	14: 66,213,240 (GRCm39)	G209S	probably benign	Het
Ddx17	T	C	15: 79,414,577 (GRCm39)	D530G	probably benign	Het
Ddx4	T	C	13: 112,761,311 (GRCm39)		probably benign	Het
Fry	C	T	5: 150,395,083 (GRCm39)		probably benign	Het
Fut10	C	T	8: 31,726,006 (GRCm39)	Q254*	probably null	Het
Gucy2e	A	G	11: 69,114,642 (GRCm39)	F1002S	probably damaging	Het
Hsd3b6	T	C	3: 98,713,489 (GRCm39)	Y270C	probably benign	Het
Jup	A	G	11: 100,267,817 (GRCm39)	I502T	probably damaging	Het
Lrrc71	T	A	3: 87,652,531 (GRCm39)		probably null	Het
Mei1	T	C	15: 81,999,944 (GRCm39)	V1127A	probably benign	Het
Ncstn	A	T	1: 171,900,024 (GRCm39)		probably benign	Het
Nin	T	C	12: 70,092,042 (GRCm39)	R756G	probably damaging	Het
Notch2	C	A	3: 98,006,737 (GRCm39)		probably null	Het
Oacyl	T	C	18: 65,870,981 (GRCm39)	V394A	probably damaging	Het
Or1j19	A	G	2: 36,677,410 (GRCm39)	Y291C	probably damaging	Het
Or5b21	T	C	19: 12,839,799 (GRCm39)	F220S	probably benign	Het
Or6b13	A	G	7: 139,782,545 (GRCm39)	I46T	probably damaging	Het
Parn	A	G	16: 13,482,514 (GRCm39)		probably null	Het
Rspo3	T	G	10: 29,376,044 (GRCm39)	E173A	probably damaging	Het
Rusc2	T	A	4: 43,416,095 (GRCm39)	V467E	possibly damaging	Het
Sema7a	G	A	9: 57,862,423 (GRCm39)	E209K	possibly damaging	Het
Uchl4	T	C	9: 64,142,911 (GRCm39)	S131P	probably benign	Het
Usp54	T	C	14: 20,616,014 (GRCm39)	I769V	probably benign	Het
Xirp2	T	C	2: 67,339,325 (GRCm39)	M522T	probably benign	Het

Other mutations in Adam29

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01305:Adam29	APN	8	56,324,879 (GRCm39)	missense	probably benign	0.01
IGL01406:Adam29	APN	8	56,324,874 (GRCm39)	missense	probably damaging	1.00
IGL01511:Adam29	APN	8	56,324,456 (GRCm39)	missense	probably damaging	1.00
IGL01869:Adam29	APN	8	56,324,732 (GRCm39)	missense	probably damaging	0.99
IGL01894:Adam29	APN	8	56,324,865 (GRCm39)	missense	probably benign	0.00
IGL02023:Adam29	APN	8	56,325,519 (GRCm39)	missense	probably benign	0.12
IGL02071:Adam29	APN	8	56,324,589 (GRCm39)	missense	possibly damaging	0.95
IGL02094:Adam29	APN	8	56,324,480 (GRCm39)	missense	possibly damaging	0.48
IGL02108:Adam29	APN	8	56,325,346 (GRCm39)	missense	probably damaging	0.98
IGL02125:Adam29	APN	8	56,324,974 (GRCm39)	nonsense	probably null
IGL02330:Adam29	APN	8	56,325,398 (GRCm39)	missense	probably benign	0.02
IGL02332:Adam29	APN	8	56,324,775 (GRCm39)	missense	probably damaging	1.00
IGL02548:Adam29	APN	8	56,325,902 (GRCm39)	nonsense	probably null
IGL02960:Adam29	APN	8	56,325,701 (GRCm39)	nonsense	probably null
IGL03030:Adam29	APN	8	56,326,100 (GRCm39)	missense	probably damaging	1.00
ANU22:Adam29	UTSW	8	56,324,879 (GRCm39)	missense	probably benign	0.01
D4043:Adam29	UTSW	8	56,325,496 (GRCm39)	nonsense	probably null
IGL02835:Adam29	UTSW	8	56,326,173 (GRCm39)	missense	probably damaging	1.00
R0294:Adam29	UTSW	8	56,326,311 (GRCm39)	missense	probably benign	0.25
R0449:Adam29	UTSW	8	56,325,716 (GRCm39)	missense	probably benign	0.01
R0607:Adam29	UTSW	8	56,326,310 (GRCm39)	missense	probably damaging	1.00
R0626:Adam29	UTSW	8	56,324,612 (GRCm39)	missense	probably benign	0.24
R1296:Adam29	UTSW	8	56,324,754 (GRCm39)	nonsense	probably null
R1752:Adam29	UTSW	8	56,325,309 (GRCm39)	missense	probably damaging	0.98
R1930:Adam29	UTSW	8	56,326,124 (GRCm39)	missense	probably damaging	1.00
R1931:Adam29	UTSW	8	56,326,124 (GRCm39)	missense	probably damaging	1.00
R2397:Adam29	UTSW	8	56,325,933 (GRCm39)	missense	probably benign	0.04
R2764:Adam29	UTSW	8	56,324,791 (GRCm39)	missense	probably damaging	1.00
R4052:Adam29	UTSW	8	56,325,317 (GRCm39)	missense	probably damaging	1.00
R4978:Adam29	UTSW	8	56,324,436 (GRCm39)	missense	probably damaging	0.98
R5306:Adam29	UTSW	8	56,324,792 (GRCm39)	missense	probably damaging	1.00
R6383:Adam29	UTSW	8	56,324,543 (GRCm39)	missense	probably damaging	0.99
R6528:Adam29	UTSW	8	56,325,596 (GRCm39)	missense	possibly damaging	0.93
R6579:Adam29	UTSW	8	56,325,779 (GRCm39)	missense	probably damaging	1.00
R6707:Adam29	UTSW	8	56,325,135 (GRCm39)	missense	probably damaging	1.00
R7076:Adam29	UTSW	8	56,324,694 (GRCm39)	missense	probably damaging	1.00
R7099:Adam29	UTSW	8	56,324,439 (GRCm39)	missense	probably benign	0.01
R7177:Adam29	UTSW	8	56,325,659 (GRCm39)	missense	probably benign	0.30
R7320:Adam29	UTSW	8	56,325,749 (GRCm39)	missense	possibly damaging	0.50
R7420:Adam29	UTSW	8	56,325,933 (GRCm39)	missense	probably benign	0.04
R7438:Adam29	UTSW	8	56,324,609 (GRCm39)	missense	probably damaging	0.99
R7476:Adam29	UTSW	8	56,326,230 (GRCm39)	missense	probably damaging	0.97
R7524:Adam29	UTSW	8	56,325,395 (GRCm39)	missense	probably damaging	1.00
R8066:Adam29	UTSW	8	56,325,703 (GRCm39)	missense	probably benign	0.11
R8111:Adam29	UTSW	8	56,324,585 (GRCm39)	missense	probably benign	0.00
R8221:Adam29	UTSW	8	56,325,463 (GRCm39)	missense	probably benign	0.02
R8350:Adam29	UTSW	8	56,325,224 (GRCm39)	missense	possibly damaging	0.89
R8353:Adam29	UTSW	8	56,326,196 (GRCm39)	missense	possibly damaging	0.82
R8453:Adam29	UTSW	8	56,326,196 (GRCm39)	missense	possibly damaging	0.82
R8723:Adam29	UTSW	8	56,324,513 (GRCm39)	missense	probably damaging	1.00
R8752:Adam29	UTSW	8	56,325,328 (GRCm39)	nonsense	probably null
R8809:Adam29	UTSW	8	56,325,659 (GRCm39)	missense	probably benign	0.30
R9025:Adam29	UTSW	8	56,325,196 (GRCm39)	nonsense	probably null
R9388:Adam29	UTSW	8	56,325,285 (GRCm39)	missense	probably damaging	1.00
R9612:Adam29	UTSW	8	56,325,118 (GRCm39)	missense	possibly damaging	0.77
X0011:Adam29	UTSW	8	56,326,203 (GRCm39)	missense	probably benign	0.02
Z1177:Adam29	UTSW	8	56,324,531 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07