Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02391:Adamts10'

293845

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adamts10

Ensembl Gene

ENSMUSG00000024299

Gene Name

a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 10

Synonyms

ZnMP

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

IGL02391

Quality Score

Status

Chromosome

Chromosomal Location

33524204-33553782 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 33528811 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 74 (S74P)

Ref Sequence

ENSEMBL: ENSMUSP00000133891 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087623] [ENSMUST00000172922] [ENSMUST00000173013] [ENSMUST00000173030] [ENSMUST00000173241] [ENSMUST00000173931]

AlphaFold

P58459

Predicted Effect

probably benign
Transcript: ENSMUST00000087623
AA Change: S74P

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

SMART Domains

Protein: ENSMUSP00000084905
Gene: ENSMUSG00000024299
AA Change: S74P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	180	1.3e-33	PFAM
Pfam:Reprolysin_5	237	432	5e-15	PFAM
Pfam:Reprolysin_4	237	448	5e-11	PFAM
Pfam:Reprolysin	239	457	1.6e-25	PFAM
Pfam:Reprolysin_2	257	447	1.2e-13	PFAM
Pfam:Reprolysin_3	261	403	5.7e-13	PFAM
TSP1	550	602	7.21e-11	SMART
Pfam:ADAM_spacer1	706	818	1.3e-27	PFAM
TSP1	828	885	4.73e-6	SMART
TSP1	887	940	4.35e-2	SMART
TSP1	948	1003	2.66e-2	SMART
TSP1	1006	1058	9.98e-5	SMART
Pfam:PLAC	1070	1102	8.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172922
AA Change: S74P

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

SMART Domains

Protein: ENSMUSP00000133891
Gene: ENSMUSG00000024299
AA Change: S74P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	1.1e-30	PFAM
SCOP:d1bkca_	238	271	4e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173013
AA Change: S74P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134181
Gene: ENSMUSG00000024299
AA Change: S74P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173030
AA Change: S74P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134549
Gene: ENSMUSG00000024299
AA Change: S74P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000173241
AA Change: S74P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000134298
Gene: ENSMUSG00000024299
AA Change: S74P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173813

Predicted Effect

probably benign
Transcript: ENSMUST00000173931
AA Change: S74P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133434
Gene: ENSMUSG00000024299
AA Change: S74P

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	180	9.6e-31	PFAM
SCOP:d1bkca_	238	271	3e-7	SMART
low complexity region	285	296	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174170

Predicted Effect

probably benign
Transcript: ENSMUST00000174348

SMART Domains

Protein: ENSMUSP00000133856
Gene: ENSMUSG00000024299

Domain	Start	End	E-Value	Type
Pfam:Reprolysin_5	23	220	2.6e-16	PFAM
Pfam:Reprolysin_4	23	235	2.6e-12	PFAM
Pfam:Reprolysin	25	243	1e-26	PFAM
Pfam:Reprolysin_2	43	233	7.1e-15	PFAM
Pfam:Reprolysin_3	47	189	4.7e-14	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of "a disintegrin and metalloproteinase with thrombospondin motifs" (ADAMTS) family of multi-domain matrix-associated metalloendopeptidases that have diverse roles in tissue morphogenesis and pathophysiological remodeling, in inflammation and in vascular biology. The encoded preproprotein undergoes proteolytic processing to generate a functional, zinc-dependent metallopeptidase enzyme. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	A	14: 118,553,352	N748Y	probably damaging	Het
Actbl2	A	G	13: 111,255,167	D12G	possibly damaging	Het
Adprhl2	C	T	4: 126,317,908		probably benign	Het
Amn1	A	G	6: 149,169,446		probably null	Het
Antxr1	A	T	6: 87,287,056	I144N	probably damaging	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Cabp5	A	T	7: 13,398,344	R13*	probably null	Het
Cacna1e	A	G	1: 154,421,113	Y1669H	probably damaging	Het
Ccdc174	A	G	6: 91,898,282	E364G	possibly damaging	Het
Ccdc18	C	T	5: 108,136,052	P74S	probably damaging	Het
Clec3a	C	T	8: 114,425,500	S82L	probably benign	Het
Cnih3	A	G	1: 181,406,513	D43G	probably damaging	Het
Dpp10	G	A	1: 123,650,358	T128M	probably damaging	Het
Edar	A	T	10: 58,628,581	F79I	probably damaging	Het
Eif2ak4	T	A	2: 118,420,791	H199Q	probably benign	Het
Fermt1	A	G	2: 132,941,951	L46P	probably damaging	Het
Glipr1	A	G	10: 111,988,894		probably benign	Het
Gsdmc	T	C	15: 63,803,579	N129S	probably damaging	Het
Ift88	T	C	14: 57,481,414	S619P	possibly damaging	Het
Itga9	T	A	9: 118,850,805	V262E	probably benign	Het
Med17	G	A	9: 15,277,667	R101*	probably null	Het
Mta1	T	A	12: 113,136,583	I688N	possibly damaging	Het
Muc4	A	T	16: 32,752,076	R651S	probably benign	Het
Olfr109	C	T	17: 37,466,586	P127S	probably damaging	Het
Olfr1342	A	G	4: 118,690,341	L37P	probably damaging	Het
Olfr824	A	G	10: 130,126,904	V51A	possibly damaging	Het
Opcml	A	G	9: 28,675,264	I93V	probably damaging	Het
Parg	T	G	14: 32,262,681		probably null	Het
Rps3a3	A	G	13: 108,670,883		probably benign	Het
Safb	T	A	17: 56,600,813		probably benign	Het
Sat2	G	T	11: 69,622,749	C54F	probably damaging	Het
Scin	T	A	12: 40,077,531	Y420F	probably benign	Het
Slc22a29	A	T	19: 8,169,353	S362T	probably benign	Het
Smchd1	T	C	17: 71,431,259	D537G	probably null	Het
Spred3	A	G	7: 29,166,405	S126P	probably benign	Het
Ssh1	C	T	5: 113,942,517	E951K	probably damaging	Het
Ssmem1	A	G	6: 30,512,442	E28G	possibly damaging	Het
Stox1	A	T	10: 62,659,676		probably benign	Het
Syn3	T	C	10: 86,064,906	I373V	probably benign	Het
Tecrl	A	T	5: 83,354,827	F58L	probably benign	Het
Trp53bp1	T	C	2: 121,202,710	N1655S	possibly damaging	Het
Usp2	G	T	9: 44,091,227	Q147H	probably damaging	Het
Usp24	T	A	4: 106,407,129	N1751K	possibly damaging	Het
Wipf1	T	A	2: 73,434,143	D438V	probably damaging	Het

Other mutations in Adamts10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01541:Adamts10	APN	17	33543231	missense	probably benign	0.24
IGL01865:Adamts10	APN	17	33553166	missense	probably damaging	0.99
IGL02711:Adamts10	APN	17	33538272	missense	probably damaging	0.99
R0122:Adamts10	UTSW	17	33528480	unclassified	probably benign
R0207:Adamts10	UTSW	17	33545390	missense	possibly damaging	0.64
R0481:Adamts10	UTSW	17	33549373	nonsense	probably null
R0508:Adamts10	UTSW	17	33543718	missense	probably damaging	1.00
R0558:Adamts10	UTSW	17	33550609	missense	probably benign	0.04
R0746:Adamts10	UTSW	17	33549547	nonsense	probably null
R1027:Adamts10	UTSW	17	33543763	missense	probably benign	0.44
R1449:Adamts10	UTSW	17	33545639	missense	probably damaging	0.96
R1471:Adamts10	UTSW	17	33553138	missense	probably damaging	1.00
R1522:Adamts10	UTSW	17	33537319	missense	probably benign	0.40
R1631:Adamts10	UTSW	17	33537342	missense	probably benign	0.25
R1863:Adamts10	UTSW	17	33551432	critical splice donor site	probably null
R1913:Adamts10	UTSW	17	33549555	missense	probably benign	0.00
R2091:Adamts10	UTSW	17	33551192	critical splice donor site	probably null
R2377:Adamts10	UTSW	17	33528892	missense	probably damaging	1.00
R3743:Adamts10	UTSW	17	33528712	missense	probably damaging	1.00
R4042:Adamts10	UTSW	17	33549540	missense	possibly damaging	0.69
R4646:Adamts10	UTSW	17	33545555	missense	probably damaging	1.00
R4654:Adamts10	UTSW	17	33537330	missense	possibly damaging	0.89
R4695:Adamts10	UTSW	17	33531739	missense	possibly damaging	0.95
R4721:Adamts10	UTSW	17	33545537	splice site	probably null
R4798:Adamts10	UTSW	17	33528752	missense	probably damaging	1.00
R4896:Adamts10	UTSW	17	33528896	missense	possibly damaging	0.90
R7454:Adamts10	UTSW	17	33545005	missense	possibly damaging	0.89
R7494:Adamts10	UTSW	17	33549378	nonsense	probably null
R7541:Adamts10	UTSW	17	33531616	missense	probably benign	0.00
R7704:Adamts10	UTSW	17	33551152	missense	probably damaging	1.00
R7955:Adamts10	UTSW	17	33545639	missense	probably damaging	0.96
R8154:Adamts10	UTSW	17	33537928	missense	probably damaging	1.00
R8895:Adamts10	UTSW	17	33549296	missense	probably damaging	1.00
R8986:Adamts10	UTSW	17	33543694	missense	probably benign	0.09
R9116:Adamts10	UTSW	17	33537356	missense	probably benign	0.31
Z1176:Adamts10	UTSW	17	33528787	missense	probably damaging	1.00
Z1176:Adamts10	UTSW	17	33528788	missense	probably damaging	1.00
Z1177:Adamts10	UTSW	17	33545429	missense	possibly damaging	0.76
Z1177:Adamts10	UTSW	17	33545594	missense	probably damaging	0.99

Posted On

2015-04-16