Mutagenetix > Incidental Mutations

Incidental Mutation 'R5435:Adam23'

428238

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

043000-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5435 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63445891-63596276 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63546453 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 400 (Y400H)

Ref Sequence

ENSEMBL: ENSMUSP00000109742 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087374
AA Change: Y400H

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: Y400H

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

possibly damaging
Transcript: ENSMUST00000114103
AA Change: Y400H

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: Y400H

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

possibly damaging
Transcript: ENSMUST00000114107
AA Change: Y400H

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: Y400H

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

0.2919

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (74/74)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	T	A	1: 105,741,250		probably benign	Het
3425401B19Rik	A	G	14: 32,661,456	F851L	probably benign	Het
Abca17	C	T	17: 24,267,614	V1480I	possibly damaging	Het
Acsbg1	G	T	9: 54,615,869	Y491*	probably null	Het
Acsf3	T	A	8: 122,780,281	N104K	probably damaging	Het
Adgra3	G	A	5: 49,990,126	T524M	probably damaging	Het
Aff1	G	A	5: 103,754,332		probably benign	Het
Anxa9	T	C	3: 95,297,250	Y321C	probably damaging	Het
Ap1g1	T	A	8: 109,838,920	Y329N	probably damaging	Het
Aph1c	A	T	9: 66,834,501	I33N	possibly damaging	Het
B3galnt2	A	G	13: 13,996,990	E491G	probably benign	Het
Bdh1	C	T	16: 31,456,657	R235C	probably damaging	Het
Ccar2	A	G	14: 70,139,327	L856P	probably damaging	Het
Ccdc107	A	T	4: 43,493,519	D30V	probably damaging	Het
Ccdc116	G	T	16: 17,142,762	H64N	probably benign	Het
Ccl12	T	C	11: 82,103,175	I86T	possibly damaging	Het
Col2a1	T	C	15: 98,000,510		probably benign	Het
Col4a4	T	A	1: 82,454,007	I1519F	unknown	Het
Ddx19b	T	C	8: 111,008,826	Q416R	possibly damaging	Het
Dnah6	T	A	6: 73,060,138	M3374L	probably benign	Het
Dnajc6	A	T	4: 101,606,610	I119F	probably damaging	Het
Ensa	C	A	3: 95,622,458		probably benign	Het
Fbxo4	C	T	15: 3,965,792	V357I	possibly damaging	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Foxf1	G	A	8: 121,084,492	G32S	probably damaging	Het
Gls2	G	A	10: 128,195,126		probably benign	Het
Gm13599	T	A	2: 67,396,152		noncoding transcript	Het
Gmnn	A	G	13: 24,752,101	S197P	probably benign	Het
Guf1	A	T	5: 69,563,169	H324L	probably benign	Het
H2-Q6	A	G	17: 35,425,685	D150G	probably damaging	Het
Herc3	T	A	6: 58,855,806	L152Q	probably damaging	Het
Hnrnpul2	T	G	19: 8,820,318	S13A	probably benign	Het
Ighv5-4	A	G	12: 113,597,663	F46L	probably benign	Het
Kank1	T	G	19: 25,411,143	S727A	probably benign	Het
Kcnma1	A	T	14: 23,528,404	Y201*	probably null	Het
Lyst	A	T	13: 13,777,064	H3750L	possibly damaging	Het
Mettl25	A	G	10: 105,779,586		probably null	Het
Mpdz	A	G	4: 81,283,487		probably benign	Het
Myh9	C	T	15: 77,769,609	V1280I	probably benign	Het
Neto1	A	T	18: 86,398,263	T32S	probably benign	Het
Nol7	C	A	13: 43,401,372	H187Q	possibly damaging	Het
Olfr992	T	A	2: 85,400,470	N21I	probably benign	Het
Pcdha8	A	G	18: 36,993,599	D378G	probably damaging	Het
Peak1	A	G	9: 56,206,486	S694P	probably damaging	Het
Pih1d1	T	A	7: 45,156,272		probably null	Het
Pik3c2g	T	G	6: 139,715,855		probably null	Het
Prkar2a	A	G	9: 108,740,483	R247G	probably damaging	Het
Psg26	A	G	7: 18,478,473	I319T	possibly damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rasa3	T	C	8: 13,631,811	E46G	possibly damaging	Het
Rbbp5	T	A	1: 132,494,275	H304Q	probably damaging	Het
Scn1a	T	A	2: 66,273,534	E1783V	probably damaging	Het
Stag1	A	G	9: 100,953,550	N151S	probably benign	Het
Tbc1d32	C	A	10: 56,040,150	A1191S	probably damaging	Het
Tchh	C	A	3: 93,443,672	R140S	possibly damaging	Het
Trank1	A	G	9: 111,391,890	Y2565C	probably benign	Het
Ttn	A	T	2: 76,914,358	V5449D	probably damaging	Het
Tubgcp2	G	A	7: 139,996,072	P893S	possibly damaging	Het
Wdfy4	A	G	14: 33,020,311	F2325S	probably damaging	Het
Wdr35	A	G	12: 8,989,951	D352G	probably benign	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Ypel3	A	G	7: 126,775,788		probably benign	Het
Zan	T	A	5: 137,403,762	T4023S	unknown	Het
Zfp735	T	A	11: 73,712,113	C628S	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
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

Predicted Primers

PCR Primer
(F):5'- TGTCCTGCAATCCAACCAAG -3'
(R):5'- TCAGGGCTCCATTTACTGATCTG -3'

Sequencing Primer
(F):5'- AAGCAACACCTTCCCTCTTTCTG -3'
(R):5'- GGCTCCATTTACTGATCTGAACCAC -3'

Posted On

2016-09-01