Mutagenetix > Incidental Mutations

Incidental Mutation 'R8445:Adam10'

654456

Institutional Source

Beutler Lab

Gene Symbol

Adam10

Ensembl Gene

ENSMUSG00000054693

Gene Name

a disintegrin and metallopeptidase domain 10

Synonyms

kuzbanian, 1700031C13Rik, kuz

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R8445 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70678997-70780229 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 70766921 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 522 (S522A)

Ref Sequence

ENSEMBL: ENSMUSP00000063839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067880] [ENSMUST00000140205]

AlphaFold

O35598

Predicted Effect

probably benign
Transcript: ENSMUST00000067880
AA Change: S522A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: S522A

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	27	156	7.5e-15	PFAM
Pfam:Reprolysin_5	219	434	1e-33	PFAM
Pfam:Reprolysin_4	219	453	2.1e-29	PFAM
Pfam:Reprolysin	221	457	6.1e-8	PFAM
Pfam:Reprolysin_2	240	447	6.5e-39	PFAM
Pfam:Reprolysin_3	244	395	4.6e-27	PFAM
DISIN	467	551	5.99e-23	SMART
transmembrane domain	675	697	N/A	INTRINSIC
low complexity region	709	739	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140205
AA Change: V513G

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: V513G

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Pep_M12B_propep	26	156	5.8e-18	PFAM
Pfam:Reprolysin_5	219	434	2.6e-34	PFAM
Pfam:Reprolysin_4	219	453	4e-30	PFAM
Pfam:Reprolysin	221	457	4.4e-10	PFAM
Pfam:Reprolysin_2	240	447	5.1e-36	PFAM
Pfam:Reprolysin_3	244	395	1.7e-24	PFAM
DISIN	467	513	1.48e-3	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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 enzyme that is involved in the proteolytic release of membrane-bound proteins in a process called ectodomain shedding. Mice lacking the encoded protein die in utero with multiple defects of the developing central nervous system, somites, and cardiovascular system. [provided by RefSeq, May 2016]
PHENOTYPE: Targeted inactivation of this gene leads to embryonic lethality at E9.5. Embryos homozygous for a knock-out allele display decreased size and multiple abnormalities related to Notch signaling, including defects of the developing central nervous system, somites, and cardiovascular system. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	G	A	7: 75,730,465	R462H	probably damaging	Het
Alg12	C	T	15: 88,814,486	R212Q	probably benign	Het
C330018D20Rik	G	A	18: 56,957,890	P67L	probably damaging	Het
Col3a1	C	T	1: 45,341,180	R955*	probably null	Het
Cyp2j12	T	A	4: 96,133,022	I116F	possibly damaging	Het
Cyp4a10	T	A	4: 115,525,594	W331R	probably damaging	Het
Dmbt1	T	A	7: 131,090,380	Y959N	unknown	Het
Dytn	T	A	1: 63,647,514	K332N	probably benign	Het
E130308A19Rik	T	A	4: 59,720,526	V686D	probably damaging	Het
Epha8	T	C	4: 136,932,289	Y792C	probably benign	Het
Fam53c	T	C	18: 34,768,315	V95A	probably benign	Het
Fbxl4	C	A	4: 22,385,983	Q197K	probably benign	Het
Fmod	G	A	1: 134,040,998	V259I	probably benign	Het
Insrr	T	C	3: 87,813,584	S1050P	probably damaging	Het
Itga4	A	G	2: 79,281,781	M347V	probably benign	Het
Kdm5d	A	G	Y: 916,874	E423G	probably damaging	Het
Klra7	A	T	6: 130,227,115	I147N	possibly damaging	Het
Lbx1	T	A	19: 45,234,212	K124I	probably damaging	Het
Map4k5	T	A	12: 69,850,967	H138L	probably damaging	Het
Mc3r	A	G	2: 172,249,317	H153R	probably damaging	Het
Myh15	C	A	16: 49,120,018	T777N	probably damaging	Het
Nfatc4	A	C	14: 55,826,418	I121L	possibly damaging	Het
Nipa1	A	T	7: 55,979,718	S216T	probably benign	Het
Nlrp4e	A	T	7: 23,340,540	I763L	probably benign	Het
Nop2	A	G	6: 125,134,604	D100G	probably benign	Het
Olfr437	A	G	6: 43,167,297	M80V	probably benign	Het
Olfr870	T	A	9: 20,171,098	I158L	probably benign	Het
Prelid3a	A	G	18: 67,473,778	E80G	probably damaging	Het
Prl4a1	T	C	13: 28,021,462	S137P	possibly damaging	Het
Rbpms2	C	T	9: 65,651,021	A113V	possibly damaging	Het
Rph3a	T	C	5: 120,973,370	E49G	probably damaging	Het
Shisa7	A	T	7: 4,836,353	M124K	probably benign	Het
Shprh	C	T	10: 11,181,569	P1078S	possibly damaging	Het
Slc30a7	C	T	3: 116,007,346		probably benign	Het
Smarca4	CGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGG	9: 21,700,943		probably benign	Het
Smg1	A	C	7: 118,136,977	N3563K	possibly damaging	Het
Spata31d1c	G	T	13: 65,033,177	S30I	probably damaging	Het
St6galnac6	A	G	2: 32,608,520		probably benign	Het
Tcp11l1	C	A	2: 104,681,933	E451D	probably benign	Het
Tfpt	G	A	7: 3,620,929	P160S	probably damaging	Het
Thbs4	C	A	13: 92,790,841	A47S	probably benign	Het
Trpm2	T	C	10: 77,910,252	D1482G	probably damaging	Het
Tspyl4	C	T	10: 34,297,746	A78V	probably benign	Het
Vmn2r26	A	G	6: 124,026,036	N135S	probably damaging	Het
Vmn2r87	A	T	10: 130,477,466	V477E	probably damaging	Het
Wdr89	T	C	12: 75,632,862	D206G	probably damaging	Het
Zfp623	C	A	15: 75,947,553	Y119*	probably null	Het
Zfp879	A	G	11: 50,833,386	M281T	probably damaging	Het
Zfp952	T	G	17: 33,003,578	F344V	possibly damaging	Het
Zgrf1	T	C	3: 127,586,205		probably null	Het

Other mutations in Adam10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Adam10	APN	9	70718746	missense	possibly damaging	0.92
IGL00582:Adam10	APN	9	70766895	missense	possibly damaging	0.54
IGL02021:Adam10	APN	9	70743909	missense	possibly damaging	0.60
IGL02149:Adam10	APN	9	70703431	missense	probably damaging	1.00
IGL03310:Adam10	APN	9	70778089	missense	probably damaging	1.00
PIT4382001:Adam10	UTSW	9	70766081	missense	probably damaging	1.00
R0110:Adam10	UTSW	9	70748248	missense	probably damaging	1.00
R0469:Adam10	UTSW	9	70748248	missense	probably damaging	1.00
R0510:Adam10	UTSW	9	70748248	missense	probably damaging	1.00
R0555:Adam10	UTSW	9	70754234	missense	probably damaging	1.00
R0671:Adam10	UTSW	9	70765941	splice site	probably benign
R0735:Adam10	UTSW	9	70748251	missense	possibly damaging	0.81
R0785:Adam10	UTSW	9	70767888	missense	possibly damaging	0.86
R0881:Adam10	UTSW	9	70746237	missense	probably damaging	1.00
R1019:Adam10	UTSW	9	70761640	missense	probably benign	0.00
R1169:Adam10	UTSW	9	70746292	missense	probably damaging	0.97
R1779:Adam10	UTSW	9	70776369	splice site	probably benign
R2048:Adam10	UTSW	9	70740075	missense	possibly damaging	0.89
R2911:Adam10	UTSW	9	70718723	missense	probably damaging	0.99
R3890:Adam10	UTSW	9	70768854	missense	probably benign	0.00
R4608:Adam10	UTSW	9	70743891	missense	probably damaging	0.99
R4609:Adam10	UTSW	9	70740143	missense	probably damaging	1.00
R4689:Adam10	UTSW	9	70765954	missense	possibly damaging	0.51
R5135:Adam10	UTSW	9	70766074	missense	probably damaging	1.00
R5496:Adam10	UTSW	9	70722739	missense	probably damaging	1.00
R5499:Adam10	UTSW	9	70740117	missense	probably benign	0.16
R6730:Adam10	UTSW	9	70740176	critical splice donor site	probably null
R6825:Adam10	UTSW	9	70761602	missense	probably damaging	1.00
R6987:Adam10	UTSW	9	70722696	missense	probably benign
R7616:Adam10	UTSW	9	70722711	missense	possibly damaging	0.81
R7829:Adam10	UTSW	9	70766927	nonsense	probably null
R7908:Adam10	UTSW	9	70761764	missense	possibly damaging	0.83
R8447:Adam10	UTSW	9	70748118	missense	probably damaging	0.97
R8690:Adam10	UTSW	9	70748223	missense	probably damaging	1.00
R8970:Adam10	UTSW	9	70748176	missense	probably benign	0.08
X0020:Adam10	UTSW	9	70740143	missense	probably damaging	1.00
X0064:Adam10	UTSW	9	70765952	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTGTCCAAAGAGAGTAGCTTG -3'
(R):5'- CCTGATGGGTGGCAATCATTATTC -3'

Sequencing Primer
(F):5'- GTCCAAAGAGAGTAGCTTGTTACTAG -3'
(R):5'- GGGTGGCAATCATTATTCTGAAAAAG -3'

Posted On

2020-10-20