Mutagenetix > Incidental Mutation

Incidental Mutation 'R1813:Adam23'

202521

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

039841-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R1813 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63445891-63596276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 63545572 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 380 (A380T)

Ref Sequence

ENSEMBL: ENSMUSP00000109742 (fasta)

Gene Model

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

AlphaFold

Q9R1V7

Predicted Effect

probably benign
Transcript: ENSMUST00000087374
AA Change: A380T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: A380T

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 benign
Transcript: ENSMUST00000114103
AA Change: A380T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: A380T

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 benign
Transcript: ENSMUST00000114107
AA Change: A380T

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: A380T

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

0.2564

Coding Region Coverage

1x: 97.5%
3x: 96.8%
10x: 94.8%
20x: 90.3%

Validation Efficiency

96% (79/82)

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
A2ml1	T	A	6: 128,566,273	N595Y	probably benign	Het
Abca6	A	G	11: 110,233,845		probably benign	Het
Abo	C	A	2: 26,843,597	D199Y	probably damaging	Het
Acvr1c	A	C	2: 58,280,294	V277G	probably damaging	Het
Art2b	A	G	7: 101,580,029	V221A	probably benign	Het
Bcam	A	G	7: 19,766,715	S153P	probably damaging	Het
Brip1	T	C	11: 86,187,080	H174R	possibly damaging	Het
Ccdc186	T	C	19: 56,800,169	D536G	probably benign	Het
Cd109	A	G	9: 78,617,005	N67S	probably benign	Het
Cd8a	G	T	6: 71,373,963	M137I	possibly damaging	Het
Ces2g	T	C	8: 104,966,937	F417L	probably benign	Het
Clec2g	A	G	6: 128,948,697	N23S	unknown	Het
Cntnap2	T	C	6: 46,530,633	Y61C	probably damaging	Het
Cog3	T	A	14: 75,742,344	E182D	probably benign	Het
Dbpht2	A	G	12: 74,295,850		noncoding transcript	Het
Dock4	A	T	12: 40,636,228	N154I	probably damaging	Het
Dysf	T	G	6: 84,151,924	V1422G	possibly damaging	Het
E2f3	T	C	13: 29,920,176	D140G	probably damaging	Het
Epb41l2	T	A	10: 25,441,568		probably null	Het
Epha2	A	G	4: 141,308,546	K98E	possibly damaging	Het
Esyt1	T	C	10: 128,519,618	D444G	probably benign	Het
Fam163a	T	C	1: 156,080,041	T2A	probably damaging	Het
Foxp2	A	T	6: 15,379,768		probably benign	Het
Gcm2	T	C	13: 41,105,891	H34R	probably benign	Het
Gipr	A	G	7: 19,164,071	S79P	probably benign	Het
Gli3	T	C	13: 15,648,691	S333P	probably damaging	Het
Gm10717	T	G	9: 3,026,317	F205C	probably damaging	Het
Gm11639	A	G	11: 104,720,688	K452R	probably benign	Het
Gzmk	A	G	13: 113,172,893	S208P	probably damaging	Het
Htra2	G	T	6: 83,051,602	A318D	probably damaging	Het
Itpkc	T	C	7: 27,208,380	D633G	probably damaging	Het
Lama1	G	A	17: 67,791,223	R1805H	probably benign	Het
Lama4	T	A	10: 39,033,125		probably benign	Het
Lama4	T	C	10: 39,060,186	V619A	probably damaging	Het
Notch3	T	C	17: 32,143,428	T1408A	probably benign	Het
Nwd2	A	G	5: 63,805,410	D779G	probably benign	Het
Nxpe4	A	G	9: 48,393,378	Y255C	possibly damaging	Het
Obox6	A	T	7: 15,834,845	H35Q	possibly damaging	Het
Olfr324	A	G	11: 58,598,307	I304V	probably damaging	Het
Olfr890	T	A	9: 38,143,729	I198N	possibly damaging	Het
Pkig	T	A	2: 163,721,227	I26N	possibly damaging	Het
Plekhm2	C	T	4: 141,642,439	V82M	possibly damaging	Het
Plppr2	G	A	9: 21,947,924	A446T	probably damaging	Het
Psme4	T	A	11: 30,804,353	F203L	probably benign	Het
Sh3bp1	A	G	15: 78,903,680	K137E	probably damaging	Het
Shisa5	T	A	9: 109,056,040	I126N	probably damaging	Het
Slc11a1	T	C	1: 74,375,772	L21P	probably benign	Het
Slc35f1	C	T	10: 52,933,195	P93S	probably damaging	Het
Slc4a4	A	G	5: 89,046,308	T172A	probably damaging	Het
Slc9c1	A	T	16: 45,573,347	Y551F	probably benign	Het
Spata31	T	C	13: 64,921,798	S587P	probably benign	Het
Syna	C	A	5: 134,559,152	M314I	probably benign	Het
Taf5l	A	G	8: 124,003,413	L144P	probably damaging	Het
Tbccd1	T	C	16: 22,822,521	T369A	probably benign	Het
Tnfrsf11b	A	T	15: 54,256,097	C160*	probably null	Het
Trim45	A	G	3: 100,922,967	N19S	probably benign	Het
Uba2	A	G	7: 34,151,030	F364S	probably damaging	Het
Unc50	T	A	1: 37,437,242	L161Q	probably damaging	Het
Uso1	A	T	5: 92,201,133		probably null	Het
Usp25	A	G	16: 77,114,950	I956V	probably benign	Het
Utf1	C	A	7: 139,944,300	L143I	probably damaging	Het
Vmn1r158	C	T	7: 22,790,718	C22Y	probably damaging	Het
Vmn1r36	T	A	6: 66,716,772	M40L	probably benign	Het
Vmn2r43	A	G	7: 8,255,056	V386A	possibly damaging	Het
Vps9d1	C	A	8: 123,247,039	R335L	probably damaging	Het
Wasf1	T	A	10: 40,926,589	V80D	probably damaging	Het
Wdr72	G	A	9: 74,276,016	V1077I	possibly damaging	Het
Wnt8a	A	G	18: 34,542,369	M1V	probably null	Het
Zbtb26	A	G	2: 37,436,335	S230P	possibly damaging	Het
Zfp335	A	G	2: 164,892,605	V1247A	probably damaging	Het
Zfp429	T	C	13: 67,390,386	N313S	possibly damaging	Het
Zfp74	A	T	7: 29,935,144	C380S	probably damaging	Het
Zfyve21	G	A	12: 111,824,894	E134K	probably damaging	Het
Zmynd11	T	C	13: 9,689,580	T474A	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
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
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'- GTGCATGTTTGACCCAGTG -3'
(R):5'- AGTAGAGCTGAAGGCCACTG -3'

Sequencing Primer
(F):5'- ATGTTTGACCCAGTGTTTGCC -3'
(R):5'- GCTGAAGGCCACTGAACCAAG -3'

Posted On

2014-06-23