Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4382001:Adam10'

554693

Institutional Source

Beutler Lab

Gene Symbol

Adam10

Ensembl Gene

ENSMUSG00000054693

Gene Name

a disintegrin and metallopeptidase domain 10

Synonyms

kuzbanian, 1700031C13Rik, kuz

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4382001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

70586279-70687511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 70673363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 498 (L498P)

Ref Sequence

ENSEMBL: ENSMUSP00000063839 (fasta)

Gene Model

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

AlphaFold

O35598

Predicted Effect

probably damaging
Transcript: ENSMUST00000067880
AA Change: L498P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: L498P

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 damaging
Transcript: ENSMUST00000140205
AA Change: L498P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693
AA Change: L498P

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: 92.9%
3x: 90.5%
10x: 84.6%
20x: 72.3%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430038I01Rik	G	T	7: 136,978,711 (GRCm39)	H144N	unknown	Het
Acsm4	C	T	7: 119,297,798 (GRCm39)	T145M	probably damaging	Het
Adgrl2	A	G	3: 148,522,934 (GRCm39)	L430P		Het
Alk	T	C	17: 72,256,916 (GRCm39)	M648V	probably benign	Het
Arhgap35	T	C	7: 16,297,794 (GRCm39)	R424G	possibly damaging	Het
Baiap2l1	T	C	5: 144,215,480 (GRCm39)	K342E	possibly damaging	Het
Ccdc54	C	T	16: 50,411,219 (GRCm39)	V16M	probably damaging	Het
Chil3	T	G	3: 106,055,975 (GRCm39)	D366A	probably damaging	Het
Chuk	A	G	19: 44,087,046 (GRCm39)	V151A	probably damaging	Het
Cpd	T	G	11: 76,688,614 (GRCm39)	H886P	probably benign	Het
Cped1	T	A	6: 22,222,449 (GRCm39)	C736*	probably null	Het
Creb3l3	T	C	10: 80,920,746 (GRCm39)	E428G	probably benign	Het
Csad	G	A	15: 102,097,085 (GRCm39)	L7F	probably benign	Het
Dnah1	C	T	14: 31,006,412 (GRCm39)	D2255N	probably damaging	Het
Dnajb12	T	C	10: 59,728,508 (GRCm39)	Y159H	probably damaging	Het
Dpysl4	T	A	7: 138,669,494 (GRCm39)	Y57*	probably null	Het
F2rl1	T	G	13: 95,650,154 (GRCm39)	N243H	probably benign	Het
Fhl4	T	C	10: 84,934,293 (GRCm39)	K163E	possibly damaging	Het
Flot2	T	C	11: 77,944,193 (GRCm39)	S46P	possibly damaging	Het
Fsip2	C	A	2: 82,821,196 (GRCm39)	T5643K	possibly damaging	Het
Golga4	T	A	9: 118,382,521 (GRCm39)	Y542N	possibly damaging	Het
Il17re	A	G	6: 113,446,038 (GRCm39)	T426A	probably benign	Het
Kdm2a	T	A	19: 4,393,201 (GRCm39)	M385L	probably benign	Het
Kdm3b	T	C	18: 34,942,140 (GRCm39)	S744P	probably damaging	Het
Krtap20-1	T	A	16: 88,881,048 (GRCm39)	Y26*	probably null	Het
Lama2	T	C	10: 27,080,901 (GRCm39)	D974G	probably damaging	Het
Ldc1	A	T	4: 130,112,954 (GRCm39)	N147K	possibly damaging	Het
Lipo5	A	T	19: 33,443,339 (GRCm39)	L159Q	probably null	Het
LTO1	T	A	7: 144,470,181 (GRCm39)	Y37N	probably damaging	Het
Mau2	C	T	8: 70,483,302 (GRCm39)	E187K	possibly damaging	Het
Mrpl9	T	C	3: 94,355,136 (GRCm39)	L236P	probably benign	Het
Mta1	A	G	12: 113,096,870 (GRCm39)	T564A	probably benign	Het
Mylk	C	T	16: 34,696,012 (GRCm39)	S249L	probably damaging	Het
Ncor1	G	T	11: 62,235,489 (GRCm39)	T331K	probably damaging	Het
Nsun3	T	A	16: 62,606,228 (GRCm39)	K15N	probably damaging	Het
Nsun5	A	G	5: 135,400,355 (GRCm39)	Y132C	probably benign	Het
Obsl1	T	A	1: 75,464,607 (GRCm39)	T1605S	probably benign	Het
Or10a3n	A	G	7: 108,493,309 (GRCm39)	Y107H	probably damaging	Het
Or51f1	A	G	7: 102,505,809 (GRCm39)	Y227H	probably damaging	Het
Or51t4	A	T	7: 102,598,656 (GRCm39)	Y328F	probably benign	Het
Or5b109	T	C	19: 13,212,259 (GRCm39)	I215T	probably damaging	Het
P2rx1	A	G	11: 72,900,026 (GRCm39)	N148D	probably benign	Het
Pogz	T	A	3: 94,787,107 (GRCm39)	S1232T	probably damaging	Het
Polr3b	C	A	10: 84,520,049 (GRCm39)	T655N	probably damaging	Het
Prss34	T	C	17: 25,517,882 (GRCm39)		probably null	Het
Rhpn2	A	G	7: 35,090,178 (GRCm39)		probably null	Het
Runx1	T	A	16: 92,410,648 (GRCm39)	D256V	probably damaging	Het
Shc1	C	A	3: 89,334,715 (GRCm39)	Q525K	probably benign	Het
Slc10a5	T	C	3: 10,400,507 (GRCm39)	D51G	probably benign	Het
Slc6a3	A	T	13: 73,719,642 (GRCm39)	N557I	probably benign	Het
Slmap	C	T	14: 26,254,586 (GRCm39)	R32H	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Spata31e4	A	T	13: 50,855,007 (GRCm39)	E215V	probably damaging	Het
Srr	C	A	11: 74,801,134 (GRCm39)	V138F	probably benign	Het
Tas2r118	G	A	6: 23,969,785 (GRCm39)	T92I	possibly damaging	Het
Tcaf2	A	T	6: 42,601,300 (GRCm39)	*920K	probably null	Het
Tenm2	T	A	11: 35,954,729 (GRCm39)	Y1141F	probably damaging	Het
Thoc6	T	C	17: 23,887,841 (GRCm39)	N322S	probably benign	Het
Tlcd2	A	G	11: 75,359,417 (GRCm39)	I70V	probably benign	Het
Tmem214	A	G	5: 31,028,795 (GRCm39)	D128G	possibly damaging	Het
Trav13d-4	T	C	14: 53,995,238 (GRCm39)	V64A	probably benign	Het
Tyro3	T	C	2: 119,632,845 (GRCm39)	W122R	probably damaging	Het
Ugcg	A	G	4: 59,213,246 (GRCm39)	D144G	possibly damaging	Het
Uimc1	T	C	13: 55,178,828 (GRCm39)	D627G	probably benign	Het
Utp6	T	C	11: 79,853,099 (GRCm39)	I13V	probably benign	Het
Vmn2r99	A	G	17: 19,614,605 (GRCm39)	K775R	probably damaging	Het
Wdfy3	CG	C	5: 102,030,827 (GRCm39)		probably null	Het
Zw10	C	T	9: 48,982,944 (GRCm39)	T525I	probably benign	Het

Other mutations in Adam10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Adam10	APN	9	70,626,028 (GRCm39)	missense	possibly damaging	0.92
IGL00582:Adam10	APN	9	70,674,177 (GRCm39)	missense	possibly damaging	0.54
IGL02021:Adam10	APN	9	70,651,191 (GRCm39)	missense	possibly damaging	0.60
IGL02149:Adam10	APN	9	70,610,713 (GRCm39)	missense	probably damaging	1.00
IGL03310:Adam10	APN	9	70,685,371 (GRCm39)	missense	probably damaging	1.00
R0110:Adam10	UTSW	9	70,655,530 (GRCm39)	missense	probably damaging	1.00
R0469:Adam10	UTSW	9	70,655,530 (GRCm39)	missense	probably damaging	1.00
R0510:Adam10	UTSW	9	70,655,530 (GRCm39)	missense	probably damaging	1.00
R0555:Adam10	UTSW	9	70,661,516 (GRCm39)	missense	probably damaging	1.00
R0671:Adam10	UTSW	9	70,673,223 (GRCm39)	splice site	probably benign
R0735:Adam10	UTSW	9	70,655,533 (GRCm39)	missense	possibly damaging	0.81
R0785:Adam10	UTSW	9	70,675,170 (GRCm39)	missense	possibly damaging	0.86
R0881:Adam10	UTSW	9	70,653,519 (GRCm39)	missense	probably damaging	1.00
R1019:Adam10	UTSW	9	70,668,922 (GRCm39)	missense	probably benign	0.00
R1169:Adam10	UTSW	9	70,653,574 (GRCm39)	missense	probably damaging	0.97
R1779:Adam10	UTSW	9	70,683,651 (GRCm39)	splice site	probably benign
R2048:Adam10	UTSW	9	70,647,357 (GRCm39)	missense	possibly damaging	0.89
R2911:Adam10	UTSW	9	70,626,005 (GRCm39)	missense	probably damaging	0.99
R3890:Adam10	UTSW	9	70,676,136 (GRCm39)	missense	probably benign	0.00
R4608:Adam10	UTSW	9	70,651,173 (GRCm39)	missense	probably damaging	0.99
R4609:Adam10	UTSW	9	70,647,425 (GRCm39)	missense	probably damaging	1.00
R4689:Adam10	UTSW	9	70,673,236 (GRCm39)	missense	possibly damaging	0.51
R5135:Adam10	UTSW	9	70,673,356 (GRCm39)	missense	probably damaging	1.00
R5496:Adam10	UTSW	9	70,630,021 (GRCm39)	missense	probably damaging	1.00
R5499:Adam10	UTSW	9	70,647,399 (GRCm39)	missense	probably benign	0.16
R6730:Adam10	UTSW	9	70,647,458 (GRCm39)	critical splice donor site	probably null
R6825:Adam10	UTSW	9	70,668,884 (GRCm39)	missense	probably damaging	1.00
R6987:Adam10	UTSW	9	70,629,978 (GRCm39)	missense	probably benign
R7616:Adam10	UTSW	9	70,629,993 (GRCm39)	missense	possibly damaging	0.81
R7829:Adam10	UTSW	9	70,674,209 (GRCm39)	nonsense	probably null
R7908:Adam10	UTSW	9	70,669,046 (GRCm39)	missense	possibly damaging	0.83
R8445:Adam10	UTSW	9	70,674,203 (GRCm39)	missense	probably benign	0.00
R8447:Adam10	UTSW	9	70,655,400 (GRCm39)	missense	probably damaging	0.97
R8690:Adam10	UTSW	9	70,655,505 (GRCm39)	missense	probably damaging	1.00
R8970:Adam10	UTSW	9	70,655,458 (GRCm39)	missense	probably benign	0.08
X0020:Adam10	UTSW	9	70,647,425 (GRCm39)	missense	probably damaging	1.00
X0064:Adam10	UTSW	9	70,673,234 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- CTTCCCATACTAAACGACAGGTCTC -3'
(R):5'- AAAACAGGATGCTGTCACTCC -3'

Sequencing Primer
(F):5'- TAGACAGTTGTAAGCTGCCC -3'
(R):5'- GGATGCTGTCACTCCAAATAAAC -3'

Posted On

2019-06-07