Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01869:Adam29'

178643

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: 0.065) question?

Stock #

IGL01869

Quality Score

Status

Chromosome

Chromosomal Location

56323947-56359983 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56324732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 574 (H574R)

Ref Sequence

ENSEMBL: ENSMUSP00000054292 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053441
AA Change: H574R

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000054292
Gene: ENSMUSG00000046258
AA Change: H574R

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700026F02Rik	A	G	8: 71,495,689 (GRCm39)		noncoding transcript	Het
Arap1	C	A	7: 101,049,490 (GRCm39)	T984K	probably damaging	Het
Ccdc146	A	T	5: 21,521,837 (GRCm39)	S396T	probably benign	Het
Col6a3	T	C	1: 90,700,770 (GRCm39)	K2587E	unknown	Het
Cyp3a44	A	G	5: 145,727,496 (GRCm39)	S278P	probably damaging	Het
Daw1	T	G	1: 83,159,965 (GRCm39)		probably benign	Het
Dnah17	T	C	11: 117,943,502 (GRCm39)	K3200R	probably benign	Het
Efhd2	A	G	4: 141,601,913 (GRCm39)	F89S	probably damaging	Het
Fras1	A	G	5: 96,856,642 (GRCm39)		probably benign	Het
Ggps1	T	C	13: 14,228,979 (GRCm39)	D68G	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3604	A	T	13: 62,517,954 (GRCm39)	C134S	probably damaging	Het
Gpaa1	A	G	15: 76,217,198 (GRCm39)	T178A	probably benign	Het
Lama3	A	G	18: 12,657,820 (GRCm39)	N312S	possibly damaging	Het
Npepps	T	C	11: 97,126,948 (GRCm39)	I437M	probably damaging	Het
Or10q12	A	G	19: 13,746,534 (GRCm39)	D276G	probably benign	Het
Or11i1	C	T	3: 106,729,342 (GRCm39)	D178N	probably benign	Het
Rcor1	C	A	12: 111,070,193 (GRCm39)	T330K	possibly damaging	Het
Sbno2	A	G	10: 79,896,226 (GRCm39)		probably null	Het
Sema3g	A	G	14: 30,945,624 (GRCm39)	E478G	probably damaging	Het
Smg9	A	G	7: 24,115,949 (GRCm39)	D280G	probably damaging	Het
Smtnl1	A	T	2: 84,641,741 (GRCm39)	*460R	probably null	Het
Syde1	A	G	10: 78,424,753 (GRCm39)	C360R	possibly damaging	Het
Szt2	A	G	4: 118,256,268 (GRCm39)	V197A	possibly damaging	Het
Tnrc6c	T	C	11: 117,646,274 (GRCm39)	V1405A	possibly damaging	Het
Ttbk1	A	G	17: 46,757,989 (GRCm39)	S882P	probably damaging	Het
Tubgcp4	T	A	2: 121,006,269 (GRCm39)	H116Q	possibly damaging	Het
Vmn1r192	T	A	13: 22,371,750 (GRCm39)	N157Y	probably damaging	Het
Vmn1r60	C	T	7: 5,547,228 (GRCm39)	V291M	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpo5	C	T	17: 46,553,133 (GRCm39)	P1184L	possibly damaging	Het
Zfp946	T	G	17: 22,673,684 (GRCm39)	I146S	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
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
IGL02030:Adam29	APN	8	56,325,157 (GRCm39)	missense	probably benign	0.35
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