Mutagenetix > Incidental Mutation

Incidental Mutation 'R7139:Adam23'

553239

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7139 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

63484880-63635263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 63584736 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 381 (D381E)

Ref Sequence

ENSEMBL: ENSMUSP00000084633 (fasta)

Gene Model

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

AlphaFold

Q9R1V7

Predicted Effect

probably damaging
Transcript: ENSMUST00000087374
AA Change: D381E

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

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: D381E

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: D381E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: D381E

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: D381E

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

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: D381E

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,295 (GRCm39)	R272G	possibly damaging	Het
4930512M02Rik	T	A	11: 11,540,078 (GRCm39)	N179Y	unknown	Het
4930562C15Rik	A	T	16: 4,668,048 (GRCm39)	M480L	probably benign	Het
Abcd4	A	G	12: 84,653,072 (GRCm39)	C377R	probably benign	Het
Angpt1	T	A	15: 42,539,747 (GRCm39)	Q37H	probably damaging	Het
Apeh	A	T	9: 107,969,345 (GRCm39)	F260I	probably damaging	Het
Cadps2	T	C	6: 23,410,888 (GRCm39)	Y681C	probably damaging	Het
Ccdc162	T	C	10: 41,542,717 (GRCm39)	M386V	possibly damaging	Het
Celsr2	T	C	3: 108,322,675 (GRCm39)	S46G	unknown	Het
Cfc1	T	C	1: 34,575,560 (GRCm39)	L78P	probably benign	Het
Chd7	T	C	4: 8,865,865 (GRCm39)	V2724A	probably benign	Het
Clca3a1	A	T	3: 144,461,063 (GRCm39)	V196E	possibly damaging	Het
Cma1	T	C	14: 56,181,273 (GRCm39)	H44R	probably damaging	Het
Cnot2	T	C	10: 116,330,924 (GRCm39)	N394S	probably benign	Het
Cplx3	A	T	9: 57,522,879 (GRCm39)	H160Q	probably benign	Het
Cstf3	A	T	2: 104,483,409 (GRCm39)	I372F	possibly damaging	Het
Cyb5rl	A	C	4: 106,928,208 (GRCm39)	I115L	probably benign	Het
D5Ertd579e	A	G	5: 36,771,320 (GRCm39)	L1025P	probably damaging	Het
Dmtn	T	C	14: 70,854,867 (GRCm39)	N36S	probably benign	Het
Dnah6	A	G	6: 73,112,663 (GRCm39)	V1647A	probably damaging	Het
Dock6	T	C	9: 21,712,572 (GRCm39)	Y2063C	probably damaging	Het
Dst	T	A	1: 34,338,888 (GRCm39)	D5149E	probably damaging	Het
Fancl	A	G	11: 26,353,358 (GRCm39)	M85V	probably benign	Het
Fgd2	T	A	17: 29,592,229 (GRCm39)	F387Y	probably damaging	Het
Fshr	A	T	17: 89,293,589 (GRCm39)	I363N	possibly damaging	Het
Glce	G	T	9: 61,977,716 (GRCm39)	S56*	probably null	Het
Gm26727	A	T	2: 67,263,381 (GRCm39)	S49T	unknown	Het
Gm36210	T	A	7: 4,902,277 (GRCm39)	D131V	probably damaging	Het
Gm5089	T	C	14: 122,673,403 (GRCm39)	D106G	unknown	Het
Gm5622	G	T	14: 51,893,339 (GRCm39)	E89*	probably null	Het
H2-Eb2	C	T	17: 34,553,395 (GRCm39)	R194W	probably benign	Het
Hivep1	A	T	13: 42,313,430 (GRCm39)	E1890V	probably benign	Het
Ighv1-53	A	T	12: 115,122,441 (GRCm39)	C5*	probably null	Het
Ighv2-5	T	A	12: 113,649,219 (GRCm39)	Y78F	probably benign	Het
Il9	C	T	13: 56,628,426 (GRCm39)	V88I	probably benign	Het
Kidins220	A	G	12: 25,044,820 (GRCm39)	T163A	probably damaging	Het
Lama4	G	T	10: 38,951,491 (GRCm39)	D1079Y	probably damaging	Het
Lrrc34	T	C	3: 30,679,036 (GRCm39)	I354V	probably benign	Het
Macroh2a2	T	A	10: 61,593,674 (GRCm39)	M1L	unknown	Het
Mpeg1	A	T	19: 12,439,078 (GRCm39)	T179S	probably benign	Het
Mrgpra2a	A	T	7: 47,076,337 (GRCm39)	L307H	probably damaging	Het
Mst1	G	A	9: 107,960,027 (GRCm39)	R328H	probably damaging	Het
Muc21	TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT	TCCTGAGGCAGTGCTGGAT	17: 35,933,525 (GRCm39)		probably benign	Het
Nav3	C	A	10: 109,689,338 (GRCm39)	S313I	probably benign	Het
Nmt2	T	G	2: 3,285,352 (GRCm39)	S7A	probably benign	Het
Nsmce1	T	C	7: 125,068,254 (GRCm39)	S197G	probably benign	Het
Ociad2	A	G	5: 73,493,218 (GRCm39)	V4A	probably benign	Het
Or56a41	G	T	7: 104,742,005 (GRCm39)	T7K	probably benign	Het
Osmr	T	C	15: 6,850,569 (GRCm39)	D679G	possibly damaging	Het
Pappa	T	A	4: 65,107,687 (GRCm39)	F699L	probably benign	Het
Parp8	T	A	13: 117,161,802 (GRCm39)	M40L	probably benign	Het
Pcyox1	A	T	6: 86,371,519 (GRCm39)	N122K	possibly damaging	Het
Pkd1l1	T	C	11: 8,840,737 (GRCm39)	S1224G		Het
Pkd1l3	T	A	8: 110,362,972 (GRCm39)	S1088T	probably damaging	Het
Prrt1	T	C	17: 34,850,051 (GRCm39)	V155A	probably benign	Het
Rbm6	A	C	9: 107,730,410 (GRCm39)	D79E	probably damaging	Het
Sec31b	A	T	19: 44,507,375 (GRCm39)	S819T	probably benign	Het
Slc22a27	A	T	19: 7,903,912 (GRCm39)	I75N	probably damaging	Het
Slc25a54	G	A	3: 109,005,905 (GRCm39)	G138R	probably damaging	Het
Slc6a12	T	C	6: 121,342,278 (GRCm39)	S612P	probably benign	Het
Slc7a2	A	T	8: 41,368,050 (GRCm39)	I605F	probably benign	Het
Slit2	A	G	5: 48,402,025 (GRCm39)	T805A	probably benign	Het
Strbp	A	T	2: 37,514,514 (GRCm39)	H308Q	probably benign	Het
Stxbp4	G	A	11: 90,497,835 (GRCm39)	Q155*	probably null	Het
Sybu	A	T	15: 44,541,110 (GRCm39)	N317K	possibly damaging	Het
Taok1	G	A	11: 77,462,459 (GRCm39)	S210F	probably damaging	Het
Tapbp	A	G	17: 34,139,022 (GRCm39)	D72G	possibly damaging	Het
Thbd	G	T	2: 148,248,461 (GRCm39)	T469K	probably benign	Het
Tia1	T	C	6: 86,404,670 (GRCm39)	Y302H	possibly damaging	Het
Tlr4	T	C	4: 66,758,520 (GRCm39)	F438L	probably benign	Het
Tmem235	C	T	11: 117,751,723 (GRCm39)	S49L	probably damaging	Het
Trip4	A	G	9: 65,792,503 (GRCm39)		probably benign	Het
Trrap	C	A	5: 144,739,988 (GRCm39)	L1137I	possibly damaging	Het
Vmo1	T	C	11: 70,404,674 (GRCm39)	E109G	probably benign	Het
Wdfy4	T	C	14: 32,873,535 (GRCm39)	Y258C		Het
Wdr91	T	G	6: 34,885,198 (GRCm39)	N121T	possibly damaging	Het
Zfp39	T	C	11: 58,781,385 (GRCm39)	H459R	probably damaging	Het
Zfp936	T	A	7: 42,839,715 (GRCm39)	I394K	possibly damaging	Het
Zpr1	G	A	9: 46,192,357 (GRCm39)	D423N	probably damaging	Het

Other mutations in Adam23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00518:Adam23	APN	1	63,610,113 (GRCm39)	missense	probably damaging	0.99
IGL00957:Adam23	APN	1	63,573,470 (GRCm39)	missense	probably benign	0.27
IGL01338:Adam23	APN	1	63,591,014 (GRCm39)	missense	possibly damaging	0.50
IGL01835:Adam23	APN	1	63,582,278 (GRCm39)	missense	probably damaging	1.00
IGL01928:Adam23	APN	1	63,596,605 (GRCm39)	missense	probably damaging	1.00
IGL02563:Adam23	APN	1	63,607,136 (GRCm39)	splice site	probably benign
IGL02981:Adam23	APN	1	63,610,112 (GRCm39)	missense	probably damaging	0.99
IGL03037:Adam23	APN	1	63,610,176 (GRCm39)	missense	possibly damaging	0.63
IGL03176:Adam23	APN	1	63,602,575 (GRCm39)	missense	probably damaging	1.00
BB007:Adam23	UTSW	1	63,624,586 (GRCm39)	missense	possibly damaging	0.89
BB017:Adam23	UTSW	1	63,624,586 (GRCm39)	missense	possibly damaging	0.89
IGL02991:Adam23	UTSW	1	63,586,978 (GRCm39)	critical splice donor site	probably null
R0057:Adam23	UTSW	1	63,610,078 (GRCm39)	missense	probably damaging	1.00
R0057:Adam23	UTSW	1	63,610,078 (GRCm39)	missense	probably damaging	1.00
R0125:Adam23	UTSW	1	63,573,515 (GRCm39)	missense	probably benign	0.00
R0477:Adam23	UTSW	1	63,596,559 (GRCm39)	splice site	probably benign
R0538:Adam23	UTSW	1	63,607,003 (GRCm39)	splice site	probably benign
R0617:Adam23	UTSW	1	63,582,306 (GRCm39)	missense	probably benign	0.06
R1506:Adam23	UTSW	1	63,586,973 (GRCm39)	missense	probably benign	0.01
R1599:Adam23	UTSW	1	63,610,092 (GRCm39)	missense	possibly damaging	0.65
R1755:Adam23	UTSW	1	63,582,329 (GRCm39)	missense	probably damaging	1.00
R1813:Adam23	UTSW	1	63,584,731 (GRCm39)	missense	probably benign	0.07
R1858:Adam23	UTSW	1	63,596,615 (GRCm39)	missense	probably benign	0.12
R1896:Adam23	UTSW	1	63,584,731 (GRCm39)	missense	probably benign	0.07
R1943:Adam23	UTSW	1	63,516,916 (GRCm39)	critical splice donor site	probably null
R2147:Adam23	UTSW	1	63,573,521 (GRCm39)	splice site	probably null
R2211:Adam23	UTSW	1	63,612,288 (GRCm39)	intron	probably benign
R2233:Adam23	UTSW	1	63,584,671 (GRCm39)	missense	probably benign
R2249:Adam23	UTSW	1	63,574,335 (GRCm39)	nonsense	probably null
R2363:Adam23	UTSW	1	63,596,650 (GRCm39)	splice site	probably null
R3800:Adam23	UTSW	1	63,590,933 (GRCm39)	nonsense	probably null
R3974:Adam23	UTSW	1	63,586,888 (GRCm39)	nonsense	probably null
R3975:Adam23	UTSW	1	63,586,888 (GRCm39)	nonsense	probably null
R4066:Adam23	UTSW	1	63,602,584 (GRCm39)	missense	probably damaging	1.00
R4382:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R4383:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R4384:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R4385:Adam23	UTSW	1	63,605,787 (GRCm39)	missense	probably damaging	1.00
R5385:Adam23	UTSW	1	63,590,970 (GRCm39)	missense	possibly damaging	0.74
R5435:Adam23	UTSW	1	63,585,612 (GRCm39)	missense	possibly damaging	0.73
R6465:Adam23	UTSW	1	63,605,827 (GRCm39)	missense	probably damaging	1.00
R6490:Adam23	UTSW	1	63,596,613 (GRCm39)	missense	probably damaging	1.00
R6967:Adam23	UTSW	1	63,602,495 (GRCm39)	splice site	probably null
R7584:Adam23	UTSW	1	63,584,621 (GRCm39)	missense	probably damaging	1.00
R7930:Adam23	UTSW	1	63,624,586 (GRCm39)	missense	possibly damaging	0.89
R8261:Adam23	UTSW	1	63,567,957 (GRCm39)	missense	noncoding transcript
R8425:Adam23	UTSW	1	63,624,536 (GRCm39)	missense	probably damaging	1.00
R8818:Adam23	UTSW	1	63,584,627 (GRCm39)	missense	probably damaging	1.00
R8887:Adam23	UTSW	1	63,554,744 (GRCm39)	missense	probably damaging	1.00
R8890:Adam23	UTSW	1	63,624,524 (GRCm39)	missense	possibly damaging	0.67
R8989:Adam23	UTSW	1	63,588,948 (GRCm39)	missense	probably damaging	0.96
R9307:Adam23	UTSW	1	63,576,131 (GRCm39)	missense	probably damaging	1.00
R9469:Adam23	UTSW	1	63,584,671 (GRCm39)	missense	probably benign
R9599:Adam23	UTSW	1	63,620,359 (GRCm39)	missense	probably benign	0.41
R9609:Adam23	UTSW	1	63,576,102 (GRCm39)	missense	probably benign	0.03
R9774:Adam23	UTSW	1	63,585,583 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GTGCATGTTTGACCCAGTG -3'
(R):5'- TAGAGCTGAAGGCCACTGAAC -3'

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

Posted On

2019-05-15