Mutagenetix > Incidental Mutations

Incidental Mutation 'R7584:Adam23'

586937

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7584 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63445891-63596276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 63545462 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 343 (V343D)

Ref Sequence

ENSEMBL: ENSMUSP00000084633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087374] [ENSMUST00000114103] [ENSMUST00000114107]

Predicted Effect

probably damaging
Transcript: ENSMUST00000087374
AA Change: V343D

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

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: V343D

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114103
AA Change: V343D

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

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: V343D

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114107
AA Change: V343D

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

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: V343D

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	1.8e-30	PFAM
Pfam:Reprolysin_5	295	470	4.3e-9	PFAM
Pfam:Reprolysin	296	493	1.1e-58	PFAM
Pfam:Reprolysin_3	320	426	1.4e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART
transmembrane domain	791	813	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (74/75)

MGI Phenotype

FUNCTION: This gene encodes a member of the disintegrin family of membrane-anchored proteins that play a role in diverse biological processes such as brain development, fertilization, tumor development and inflammation. The encoded protein undergoes proteolytic processing to generate a mature polypeptide comprised of an inactive metalloprotease and disintegrin domains. Transgenic disruption of this gene in mice results in postnatal neurological defects including tremor and ataxia resulting in death by 2 weeks of age. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mice homozygous for an insertional mutation that inactivates the gene are smaller than normal littermates, show delayed lung development, are lethal by postnatal day 14, and display severe tremor and ataxia. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017D01Rik	A	G	19: 11,110,361	F69L	possibly damaging	Het
1700123L14Rik	A	C	6: 96,165,392	L224V	probably benign	Het
Abcc10	A	G	17: 46,315,378		probably null	Het
Actrt3	T	C	3: 30,598,207	K246R	probably benign	Het
Ak2	T	C	4: 128,999,212	S55P	probably damaging	Het
Ank2	G	A	3: 126,946,128	Q2036*	probably null	Het
Ano10	A	G	9: 122,275,531	I40T	probably benign	Het
Aoc2	T	A	11: 101,326,179	C363S	possibly damaging	Het
Aplp2	A	T	9: 31,157,781	V584E	possibly damaging	Het
Arhgap32	A	T	9: 32,256,967	T749S	probably benign	Het
Atm	A	T	9: 53,513,127	F625I	probably damaging	Het
Atr	T	C	9: 95,942,713	L2387P	probably damaging	Het
Barhl1	C	T	2: 28,909,791	G274D	probably damaging	Het
Bcl2a1a	A	T	9: 88,957,292	D81V	probably damaging	Het
Ccdc63	T	G	5: 122,113,204	D381A	possibly damaging	Het
Col12a1	A	G	9: 79,703,296		probably null	Het
Crat	C	T	2: 30,404,565	R497Q	probably benign	Het
Cyp4b1	T	A	4: 115,628,687	D351V	probably damaging	Het
D130043K22Rik	A	G	13: 24,872,370	S562G	probably damaging	Het
D430042O09Rik	G	T	7: 125,870,666	V1436L	probably damaging	Het
Dgkb	T	A	12: 38,139,392		probably null	Het
Dmbt1	C	T	7: 131,088,751	Q905*	probably null	Het
Dnajc21	A	C	15: 10,462,295	Y81*	probably null	Het
Dnali1	T	C	4: 125,065,538	T21A	probably benign	Het
Dpp8	A	T	9: 65,078,782	L851F	probably damaging	Het
Dpt	T	C	1: 164,818,908	Y149H	probably benign	Het
Ep300	T	C	15: 81,628,426	V983A	unknown	Het
Faf1	C	T	4: 109,925,957	R549C	probably damaging	Het
Gcm1	A	G	9: 78,064,467	N230S	possibly damaging	Het
Gm10803	T	A	2: 93,564,168	I95N	probably damaging	Het
Hectd4	T	A	5: 121,318,735	I721N	possibly damaging	Het
Hsp90ab1	T	C	17: 45,570,271	H315R	probably damaging	Het
Igkv10-95	T	A	6: 68,680,756	S85R	possibly damaging	Het
Kcnq5	T	C	1: 21,402,321	T901A	probably benign	Het
Kremen1	C	T	11: 5,194,964	V471M	possibly damaging	Het
Lama2	C	A	10: 27,104,261	D1853Y	possibly damaging	Het
Lrif1	A	G	3: 106,731,901	T76A	probably benign	Het
Lrrtm2	T	A	18: 35,212,765	I495F	possibly damaging	Het
Ltbr	G	T	6: 125,307,241	Q413K	probably benign	Het
Myrfl	T	A	10: 116,828,997	Y376F	probably damaging	Het
Nup98	G	T	7: 102,176,389	N414K	probably benign	Het
Nynrin	A	G	14: 55,871,584	T1383A	probably damaging	Het
Olfr1106	A	T	2: 87,049,134	I34N	probably benign	Het
Olfr1211	G	A	2: 88,929,805	P170L	probably damaging	Het
Olfr784	T	A	10: 129,388,032	I133N	probably damaging	Het
Olfr845	C	A	9: 19,339,273	T271K	possibly damaging	Het
Olfr915	G	T	9: 38,646,895	P210T	possibly damaging	Het
Pcdhb5	T	A	18: 37,322,372	S602T	possibly damaging	Het
Sall3	A	G	18: 80,974,530	F61S	probably benign	Het
Scube1	G	T	15: 83,721,887	C61*	probably null	Het
Sec31b	T	C	19: 44,531,556		probably null	Het
Sec31b	T	C	19: 44,543,323	D49G	probably damaging	Het
Skiv2l	A	G	17: 34,841,675	I822T	possibly damaging	Het
Slc19a3	C	T	1: 83,022,748	V183M	possibly damaging	Het
Slc41a2	T	C	10: 83,316,789		probably benign	Het
Sphk2	C	A	7: 45,712,507	V169L	probably damaging	Het
Synpo	C	A	18: 60,596,277	R951L	probably damaging	Het
Tbc1d9b	G	A	11: 50,170,716	C1017Y	probably damaging	Het
Tmtc4	C	A	14: 122,978,151	V28F	probably benign	Het
Tprkb	A	G	6: 85,928,827	I165V	probably benign	Het
Ttc23l	T	A	15: 10,533,708	I250F	probably damaging	Het
Ubr3	G	A	2: 69,991,503	V1370I	probably damaging	Het
Ush2a	A	G	1: 188,728,109		probably null	Het
Usp9y	T	C	Y: 1,384,451	Y689C	probably damaging	Het
Vmn1r56	A	T	7: 5,195,896	Y241N	probably damaging	Het
Vmn2r6	T	C	3: 64,565,262	T13A	probably benign	Het
Vmn2r92	T	A	17: 18,166,766	N122K	probably benign	Het
Vps9d1	A	G	8: 123,250,717	F131S	probably damaging	Het
Vwa8	A	C	14: 78,982,234		probably null	Het
Wfdc16	A	T	2: 164,638,627		probably null	Het
Zbtb41	T	A	1: 139,424,057	Y303N	probably benign	Het
Zbtb5	T	C	4: 44,993,678	T569A	probably benign	Het
Zcchc11	T	C	4: 108,479,346	V89A	probably benign	Het
Zfp111	A	G	7: 24,198,600	S530P	possibly damaging	Het

Other mutations in Adam23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Adam23	APN	1	63570954	missense	probably damaging	0.99
IGL00957:Adam23	APN	1	63534311	missense	probably benign	0.27
IGL01338:Adam23	APN	1	63551855	missense	possibly damaging	0.50
IGL01835:Adam23	APN	1	63543119	missense	probably damaging	1.00
IGL01928:Adam23	APN	1	63557446	missense	probably damaging	1.00
IGL02563:Adam23	APN	1	63567977	splice site	probably benign
IGL02981:Adam23	APN	1	63570953	missense	probably damaging	0.99
IGL03037:Adam23	APN	1	63571017	missense	possibly damaging	0.63
IGL03176:Adam23	APN	1	63563416	missense	probably damaging	1.00
BB007:Adam23	UTSW	1	63585427	missense	possibly damaging	0.89
BB017:Adam23	UTSW	1	63585427	missense	possibly damaging	0.89
IGL02991:Adam23	UTSW	1	63547819	critical splice donor site	probably null
R0057:Adam23	UTSW	1	63570919	missense	probably damaging	1.00
R0057:Adam23	UTSW	1	63570919	missense	probably damaging	1.00
R0125:Adam23	UTSW	1	63534356	missense	probably benign	0.00
R0477:Adam23	UTSW	1	63557400	splice site	probably benign
R0538:Adam23	UTSW	1	63567844	splice site	probably benign
R0617:Adam23	UTSW	1	63543147	missense	probably benign	0.06
R1506:Adam23	UTSW	1	63547814	missense	probably benign	0.01
R1599:Adam23	UTSW	1	63570933	missense	possibly damaging	0.65
R1755:Adam23	UTSW	1	63543170	missense	probably damaging	1.00
R1813:Adam23	UTSW	1	63545572	missense	probably benign	0.07
R1858:Adam23	UTSW	1	63557456	missense	probably benign	0.12
R1896:Adam23	UTSW	1	63545572	missense	probably benign	0.07
R1943:Adam23	UTSW	1	63477757	critical splice donor site	probably null
R2147:Adam23	UTSW	1	63534362	splice site	probably null
R2211:Adam23	UTSW	1	63573129	intron	probably benign
R2233:Adam23	UTSW	1	63545512	missense	probably benign
R2249:Adam23	UTSW	1	63535176	nonsense	probably null
R2363:Adam23	UTSW	1	63557491	splice site	probably null
R3800:Adam23	UTSW	1	63551774	nonsense	probably null
R3974:Adam23	UTSW	1	63547729	nonsense	probably null
R3975:Adam23	UTSW	1	63547729	nonsense	probably null
R4066:Adam23	UTSW	1	63563425	missense	probably damaging	1.00
R4382:Adam23	UTSW	1	63566628	missense	probably damaging	1.00
R4383:Adam23	UTSW	1	63566628	missense	probably damaging	1.00
R4384:Adam23	UTSW	1	63566628	missense	probably damaging	1.00
R4385:Adam23	UTSW	1	63566628	missense	probably damaging	1.00
R5385:Adam23	UTSW	1	63551811	missense	possibly damaging	0.74
R5435:Adam23	UTSW	1	63546453	missense	possibly damaging	0.73
R6465:Adam23	UTSW	1	63566668	missense	probably damaging	1.00
R6490:Adam23	UTSW	1	63557454	missense	probably damaging	1.00
R6967:Adam23	UTSW	1	63563336	splice site	probably null
R7139:Adam23	UTSW	1	63545577	missense	probably damaging	1.00
R7930:Adam23	UTSW	1	63585427	missense	possibly damaging	0.89
R8261:Adam23	UTSW	1	63528798	missense	noncoding transcript
R8425:Adam23	UTSW	1	63585377	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGACAATCTCTTTAAGGAGAG -3'
(R):5'- GCCAAACTGCAGTAAGAGCC -3'

Sequencing Primer
(F):5'- CGTTATTTTGGCTCTTGGAAAAGAG -3'
(R):5'- GCCTGAAGGAGCACGTAC -3'

Posted On

2019-10-24