Mutagenetix > Incidental Mutation

Incidental Mutation 'R7829:Adam10'

602334

Institutional Source

Beutler Lab

Gene Symbol

Adam10

Ensembl Gene

ENSMUSG00000054693

Gene Name

a disintegrin and metallopeptidase domain 10

Synonyms

kuzbanian, 1700031C13Rik, kuz

MMRRC Submission

045883-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70586279-70687511 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 70674209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 524 (K524*)

Ref Sequence

ENSEMBL: ENSMUSP00000063839 (fasta)

Gene Model

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

AlphaFold

O35598

Predicted Effect

probably null
Transcript: ENSMUST00000067880
AA Change: K524*

SMART Domains

Protein: ENSMUSP00000063839
Gene: ENSMUSG00000054693
AA Change: K524*

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

SMART Domains

Protein: ENSMUSP00000117162
Gene: ENSMUSG00000054693

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: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,770,823 (GRCm39)	L102V	not run	Het
Abca12	A	T	1: 71,331,580 (GRCm39)	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,748,623 (GRCm39)	I318N	probably benign	Het
Adamts3	C	T	5: 90,009,349 (GRCm39)	G105R	probably damaging	Het
Adcy7	T	C	8: 89,042,387 (GRCm39)	I418T	probably damaging	Het
Alg9	T	A	9: 50,699,471 (GRCm39)	F165L	probably damaging	Het
Anapc2	G	T	2: 25,167,753 (GRCm39)	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,526,052 (GRCm39)	H1876Q	probably benign	Het
Armc2	G	A	10: 41,802,856 (GRCm39)	R606C	probably benign	Het
Cd163	T	C	6: 124,281,738 (GRCm39)	S14P	probably benign	Het
Cfap74	T	C	4: 155,513,694 (GRCm39)	V502A		Het
Copb2	T	C	9: 98,470,147 (GRCm39)	I891T	probably damaging	Het
Creb3	T	C	4: 43,566,322 (GRCm39)	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,773,269 (GRCm39)	M126L	probably benign	Het
Csrp2	C	T	10: 110,771,045 (GRCm39)	A50V	probably damaging	Het
Ctsd	A	G	7: 141,930,879 (GRCm39)	C284R	probably damaging	Het
Dll3	G	A	7: 27,994,075 (GRCm39)	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,781,104 (GRCm39)		probably benign	Het
Dnah6	C	A	6: 73,104,902 (GRCm39)	E1896*	probably null	Het
Dtwd1	A	G	2: 126,006,679 (GRCm39)	T234A	probably damaging	Het
Fhod3	G	A	18: 25,248,947 (GRCm39)		probably null	Het
Gm10549	C	A	18: 33,597,463 (GRCm39)		probably benign	Het
Gm7298	T	C	6: 121,742,297 (GRCm39)	I495T	probably damaging	Het
Grhl3	T	C	4: 135,288,532 (GRCm39)	N51S	probably damaging	Het
Gtpbp4	A	T	13: 9,035,366 (GRCm39)		probably null	Het
Hsd17b14	A	C	7: 45,216,209 (GRCm39)	S260R	probably benign	Het
Insig2	A	T	1: 121,235,058 (GRCm39)		probably null	Het
Itgae	T	A	11: 73,029,618 (GRCm39)	V1046D	probably benign	Het
Kif1b	A	T	4: 149,305,447 (GRCm39)		probably null	Het
Kmo	A	G	1: 175,478,225 (GRCm39)		probably null	Het
Loxhd1	A	G	18: 77,496,483 (GRCm39)	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,793,460 (GRCm39)	C2484*	probably null	Het
Lrrc23	T	A	6: 124,747,711 (GRCm39)	M293L	probably benign	Het
Mphosph6	T	C	8: 118,525,807 (GRCm39)	D47G	probably benign	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Naglu	G	A	11: 100,967,436 (GRCm39)	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrc5	T	C	8: 95,248,397 (GRCm39)	S1711P	probably damaging	Het
Or10al7	T	C	17: 38,366,220 (GRCm39)	Y79C	possibly damaging	Het
Or1o2	T	C	17: 37,543,201 (GRCm39)	E20G	probably benign	Het
Or6k2	A	T	1: 173,986,425 (GRCm39)	I29F	probably benign	Het
Osbpl6	G	A	2: 76,423,731 (GRCm39)	A857T	probably damaging	Het
Oscp1	C	A	4: 125,982,201 (GRCm39)	D380E	probably benign	Het
Pdzd7	C	A	19: 45,027,678 (GRCm39)	R265S	probably benign	Het
Piezo2	A	T	18: 63,246,947 (GRCm39)		probably null	Het
Pigc	G	A	1: 161,798,033 (GRCm39)	R5H	probably benign	Het
Pla2g5	C	A	4: 138,531,845 (GRCm39)	R53L	probably benign	Het
Rbm6	T	C	9: 107,729,905 (GRCm39)	R248G	probably damaging	Het
Rev1	A	T	1: 38,095,526 (GRCm39)	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,579,589 (GRCm39)	N474K	probably benign	Het
Ryr2	T	A	13: 11,842,493 (GRCm39)	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749 (GRCm39)	D837E	probably benign	Het
Sipa1l2	T	C	8: 126,178,727 (GRCm39)	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,307,142 (GRCm39)	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,172,643 (GRCm39)		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
Suclg1	A	G	6: 73,252,226 (GRCm39)		probably null	Het
Syne1	A	C	10: 5,292,293 (GRCm39)	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,784,538 (GRCm39)	S706G	probably benign	Het
Tox2	T	C	2: 163,162,296 (GRCm39)	Y389H	probably damaging	Het
Trappc10	T	C	10: 78,034,909 (GRCm39)	T946A	probably benign	Het
Ubqln1	C	T	13: 58,325,719 (GRCm39)	E546K	probably damaging	Het
Zfp106	A	G	2: 120,354,538 (GRCm39)	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,155,513 (GRCm39)	K395*	probably null	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
PIT4382001:Adam10	UTSW	9	70,673,363 (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
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'- GTTGTAGTCCAGTAATGAACTTACC -3'
(R):5'- ACCCCAGAATAGTTACCTGATGG -3'

Sequencing Primer
(F):5'- CCACTTAAGAGGTGACGTTCATG -3'
(R):5'- CCTGATGGGTGGCAATCATTATTC -3'

Posted On

2019-12-03