Mutagenetix > Incidental Mutation

Incidental Mutation 'R3975:Adam23'

312564

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

040939-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63445891-63596276 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 63547729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 416 (Y416*)

Ref Sequence

ENSEMBL: ENSMUSP00000109742 (fasta)

Gene Model

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

AlphaFold

Q9R1V7

Predicted Effect

probably null
Transcript: ENSMUST00000087374
AA Change: Y416*

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: Y416*

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

noncoding transcript
Transcript: ENSMUST00000097717

SMART Domains

Protein: ENSMUSP00000095324
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	2	63	6.3e-16	PFAM
Pfam:Reprolysin_5	111	286	2.7e-7	PFAM
Pfam:Reprolysin	112	309	5.7e-57	PFAM
Pfam:Reprolysin_3	136	240	8.7e-7	PFAM
DISIN	324	399	1.4e-30	SMART
ACR	400	541	3.6e-63	SMART
EGF	548	582	9e-2	SMART
transmembrane domain	607	629	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000114101

SMART Domains

Protein: ENSMUSP00000109736
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	87	247	1.3e-30	PFAM
Pfam:Reprolysin_5	295	470	3.3e-9	PFAM
Pfam:Reprolysin	296	493	8.1e-59	PFAM
Pfam:Reprolysin_3	320	426	1.1e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	686	4.34e-31	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114103
AA Change: Y416*

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: Y416*

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 null
Transcript: ENSMUST00000114107
AA Change: Y416*

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: Y416*

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

noncoding transcript
Transcript: ENSMUST00000182642

SMART Domains

Protein: ENSMUSP00000138362
Gene: ENSMUSG00000025964

Domain	Start	End	E-Value	Type
signal peptide	1	55	N/A	INTRINSIC
Pfam:Pep_M12B_propep	89	247	2.2e-30	PFAM
Pfam:Reprolysin_5	295	470	4.6e-9	PFAM
Pfam:Reprolysin	296	493	1.4e-58	PFAM
Pfam:Reprolysin_3	320	426	1.6e-8	PFAM
DISIN	508	583	2.81e-28	SMART
ACR	584	725	1.11e-60	SMART
EGF	732	766	1.87e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190658

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.6%

Validation Efficiency

95% (59/62)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b10	G	T	6: 34,392,496		probably null	Het
Arap2	G	T	5: 62,748,894	P261T	possibly damaging	Het
Bckdha	C	A	7: 25,631,433	D53Y	probably damaging	Het
Bfsp2	A	G	9: 103,480,072	V52A	probably benign	Het
Bola3	T	C	6: 83,351,267	L45P	probably benign	Het
Cacna2d4	A	G	6: 119,278,173		probably null	Het
Ceacam16	C	A	7: 19,853,612	Q410H	probably damaging	Het
Cenpe	A	G	3: 135,235,225		probably null	Het
Cenpe	T	C	3: 135,238,472		probably null	Het
Clca1	A	T	3: 145,032,639	V36D	probably damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crb2	C	A	2: 37,793,668	P1061T	possibly damaging	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Cyp51	C	T	5: 4,091,877	G346S	probably damaging	Het
Dnah6	A	G	6: 73,121,992	S2027P	possibly damaging	Het
Fam129a	T	C	1: 151,649,335	Y164H	probably damaging	Het
Fbxo18	T	C	2: 11,767,210	H220R	possibly damaging	Het
Gdf2	T	A	14: 33,944,834	V171D	probably damaging	Het
Gm9825	A	T	6: 7,983,149		noncoding transcript	Het
Golgb1	T	G	16: 36,918,571	V2424G	probably damaging	Het
Gpbp1l1	T	C	4: 116,570,985		probably null	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Greb1l	A	G	18: 10,522,247	N672S	possibly damaging	Het
Kcnma1	C	T	14: 24,003,747		probably null	Het
Lrba	T	C	3: 86,351,255	F1350L	probably damaging	Het
Nat8f4	A	G	6: 85,901,070	V157A	possibly damaging	Het
Nt5dc2	T	C	14: 31,138,875	S439P	probably damaging	Het
Olfr1090	T	A	2: 86,754,543	H65L	probably damaging	Het
Olfr134	A	G	17: 38,175,495	N137S	probably benign	Het
Olfr141	G	A	2: 86,806,460	P180S	possibly damaging	Het
Olfr693	T	C	7: 106,677,785	R234G	probably damaging	Het
Orm3	A	T	4: 63,356,158		probably null	Het
Otof	A	G	5: 30,370,712	L1929P	probably damaging	Het
Pex5l	C	A	3: 33,015,015	C111F	probably damaging	Het
Plcl1	T	A	1: 55,698,215	M905K	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Rara	T	G	11: 98,970,569	I236S	probably damaging	Het
Reln	A	T	5: 21,995,366	S1379T	possibly damaging	Het
Rp1l1	T	A	14: 64,030,309	Y1115N	probably damaging	Het
Rpe65	A	T	3: 159,604,585	N135I	probably damaging	Het
Rps6	A	G	4: 86,856,813	V18A	probably benign	Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Sis	T	C	3: 72,943,635	T577A	probably damaging	Het
Slx1b	G	A	7: 126,691,807	L239F	probably damaging	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Smad6	A	G	9: 64,020,930	V32A	probably benign	Het
Smc6	T	A	12: 11,274,074	F73L	probably damaging	Het
Sorbs2	T	C	8: 45,772,710		probably null	Het
Svbp	T	A	4: 119,195,893	F32I	probably benign	Het
Tap1	C	A	17: 34,189,567		probably benign	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Thrb	A	G	14: 18,033,456	I406M	probably damaging	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ttn	T	C	2: 76,876,653		probably benign	Het
Umodl1	C	A	17: 30,984,789	Y525*	probably null	Het
Vmn2r70	C	T	7: 85,559,332	V646I	probably benign	Het
Wipf1	C	T	2: 73,437,169	G295D	probably benign	Het
Wisp3	C	G	10: 39,155,098	C143S	probably damaging	Het
Zim1	A	T	7: 6,677,130	H511Q	probably 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
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
R7584:Adam23	UTSW	1	63545462	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
R8818:Adam23	UTSW	1	63545468	missense	probably damaging	1.00
R8887:Adam23	UTSW	1	63515585	missense	probably damaging	1.00
R8890:Adam23	UTSW	1	63585365	missense	possibly damaging	0.67
R8989:Adam23	UTSW	1	63549789	missense	probably damaging	0.96
R9307:Adam23	UTSW	1	63536972	missense	probably damaging	1.00
R9469:Adam23	UTSW	1	63545512	missense	probably benign
R9599:Adam23	UTSW	1	63581200	missense	probably benign	0.41
R9609:Adam23	UTSW	1	63536943	missense	probably benign	0.03
R9774:Adam23	UTSW	1	63546424	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCCCATGTGAAAACTTCCTGTTCTG -3'
(R):5'- GATTAAACCACGGTGGCATG -3'

Sequencing Primer
(F):5'- ACTTCCTGTTCTGAAAGATGCTTG -3'
(R):5'- CGGTGGCATGGAAATAAAGTATTCTC -3'

Posted On

2015-04-30