Mutagenetix > Incidental Mutation

Incidental Mutation 'R1858:Adam23'

206279

Institutional Source

Beutler Lab

Gene Symbol

Adam23

Ensembl Gene

ENSMUSG00000025964

Gene Name

a disintegrin and metallopeptidase domain 23

Synonyms

MDC3

MMRRC Submission

039882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1858 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

63484880-63635263 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 63596615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 566 (I566L)

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: I566L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000084633
Gene: ENSMUSG00000025964
AA Change: I566L

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: I566L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139862
Gene: ENSMUSG00000025964
AA Change: I566L

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: I566L

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000109742
Gene: ENSMUSG00000025964
AA Change: I566L

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: ENSMUST00000134704

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

Meta Mutation Damage Score

0.2589

Coding Region Coverage

1x: 97.4%
3x: 96.7%
10x: 94.8%
20x: 91.0%

Validation Efficiency

97% (112/116)

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	C	A	1: 12,045,177 (GRCm39)	A443E	unknown	Het
Acacb	A	T	5: 114,334,770 (GRCm39)	Y613F	probably benign	Het
Adar	G	T	3: 89,646,589 (GRCm39)	R338L	probably benign	Het
Akap14	C	T	X: 36,420,779 (GRCm39)	A476T	probably damaging	Het
Amotl1	T	A	9: 14,486,697 (GRCm39)	Q399L	probably benign	Het
Ankrd16	T	G	2: 11,783,407 (GRCm39)	L3R	probably benign	Het
Arfgap1	G	C	2: 180,615,881 (GRCm39)	G187R	probably damaging	Het
Arhgap19	A	T	19: 41,767,592 (GRCm39)	V399D	probably benign	Het
Arl4d	A	G	11: 101,557,578 (GRCm39)	T35A	probably damaging	Het
Atr	T	A	9: 95,747,150 (GRCm39)	I144N	probably damaging	Het
Bptf	A	G	11: 106,964,127 (GRCm39)	M1574T	probably benign	Het
Cacna1h	T	A	17: 25,599,781 (GRCm39)	D1684V	probably damaging	Het
Celsr1	C	A	15: 85,916,960 (GRCm39)	V338F	probably damaging	Het
Cep164	T	C	9: 45,734,938 (GRCm39)		probably benign	Het
Clock	C	A	5: 76,388,756 (GRCm39)	G390C	possibly damaging	Het
Col6a6	A	G	9: 105,658,301 (GRCm39)	F637S	probably damaging	Het
Crebrf	T	A	17: 26,961,937 (GRCm39)	Y345N	probably benign	Het
Cstdc3	A	T	16: 36,128,449 (GRCm39)	I15F	probably damaging	Het
Cul1	A	G	6: 47,502,458 (GRCm39)		probably null	Het
Cyb5r4	C	T	9: 86,923,332 (GRCm39)	S185L	probably benign	Het
Cyp3a57	T	C	5: 145,318,059 (GRCm39)	Y347H	probably damaging	Het
Dgkq	G	T	5: 108,801,597 (GRCm39)	T487K	probably benign	Het
Dmkn	T	C	7: 30,463,990 (GRCm39)	V143A	probably benign	Het
Dmp1	A	T	5: 104,355,496 (GRCm39)	E32V	possibly damaging	Het
Dsc3	T	C	18: 20,098,773 (GRCm39)	D802G	probably damaging	Het
Dse	T	C	10: 34,029,225 (GRCm39)	T622A	probably benign	Het
Duxf4	A	G	10: 58,071,602 (GRCm39)	V204A	probably benign	Het
Dyrk1b	A	T	7: 27,882,071 (GRCm39)		probably null	Het
Ehd2	T	C	7: 15,686,113 (GRCm39)	T320A	probably benign	Het
Eif3a	A	C	19: 60,770,635 (GRCm39)	L71V	probably damaging	Het
Eif4e1b	A	G	13: 54,935,091 (GRCm39)		probably null	Het
Fam131b	A	G	6: 42,295,914 (GRCm39)	F161L	probably damaging	Het
Fam171b	A	T	2: 83,683,725 (GRCm39)	M81L	probably benign	Het
Gal3st4	T	C	5: 138,269,050 (GRCm39)		probably null	Het
Gdf11	A	T	10: 128,722,315 (GRCm39)	V180E	probably damaging	Het
Grin3a	T	A	4: 49,792,437 (GRCm39)	Y432F	probably benign	Het
Hif1a	C	A	12: 73,990,929 (GRCm39)	H708N	probably benign	Het
Hmcn2	G	T	2: 31,305,295 (GRCm39)		probably null	Het
Hs3st6	T	A	17: 24,976,973 (GRCm39)	M151K	possibly damaging	Het
Hyal2	T	A	9: 107,449,537 (GRCm39)	L431Q	probably benign	Het
Hyal6	A	T	6: 24,740,857 (GRCm39)	T337S	probably benign	Het
Igsf5	A	T	16: 96,187,829 (GRCm39)		probably null	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Krtap19-3	G	A	16: 88,674,878 (GRCm39)		probably benign	Het
Lgalsl	T	C	11: 20,779,420 (GRCm39)	D75G	probably benign	Het
Lrrc56	A	G	7: 140,787,421 (GRCm39)	M353V	probably benign	Het
Ltbp2	T	A	12: 84,877,555 (GRCm39)	K337*	probably null	Het
Mdn1	C	T	4: 32,730,881 (GRCm39)	H2917Y	probably benign	Het
Medag	A	G	5: 149,353,259 (GRCm39)	I151M	probably damaging	Het
Meiob	T	C	17: 25,042,544 (GRCm39)	V124A	probably damaging	Het
Mmp3	A	G	9: 7,451,799 (GRCm39)	H379R	probably benign	Het
Mpg	A	G	11: 32,181,957 (GRCm39)		probably null	Het
Ncoa6	G	T	2: 155,263,559 (GRCm39)	Q292K	probably benign	Het
Ndufaf6	G	T	4: 11,053,474 (GRCm39)	H277Q	probably benign	Het
Nlrp4c	A	G	7: 6,087,655 (GRCm39)	I763V	probably benign	Het
Nlrp5	A	T	7: 23,117,586 (GRCm39)	I437F	probably damaging	Het
Noc2l	G	A	4: 156,329,727 (GRCm39)	R435Q	probably damaging	Het
Nova2	T	C	7: 18,692,326 (GRCm39)	I485T	probably damaging	Het
Nrxn2	G	A	19: 6,538,825 (GRCm39)	V794I	probably benign	Het
Nup210l	A	G	3: 90,061,806 (GRCm39)	T662A	probably damaging	Het
Or2ad1	A	T	13: 21,326,564 (GRCm39)	I221N	probably damaging	Het
Or2b28	A	G	13: 21,531,346 (GRCm39)	M83V	possibly damaging	Het
Or2p2	A	T	13: 21,256,641 (GRCm39)	F277I	probably damaging	Het
Or51aa2	G	A	7: 103,187,859 (GRCm39)	T194I	probably damaging	Het
Or51e2	A	C	7: 102,391,571 (GRCm39)	I213S	probably damaging	Het
Or51l14	G	A	7: 103,101,332 (GRCm39)	V263I	probably benign	Het
Or9g8	T	C	2: 85,607,582 (GRCm39)	L218P	probably damaging	Het
Pelp1	G	A	11: 70,285,568 (GRCm39)	P767S	probably damaging	Het
Pfdn1	C	A	18: 36,584,153 (GRCm39)	M60I	probably benign	Het
Plaat1	G	A	16: 29,036,470 (GRCm39)	G36D	probably damaging	Het
Plcxd3	T	A	15: 4,546,093 (GRCm39)		probably benign	Het
Plekhg1	C	A	10: 3,895,917 (GRCm39)	D436E	possibly damaging	Het
Ppfibp1	G	A	6: 146,892,090 (GRCm39)	V117I	probably benign	Het
Prss44	A	G	9: 110,643,177 (GRCm39)	K24R	probably benign	Het
Ptger1	G	T	8: 84,395,107 (GRCm39)	G195W	probably benign	Het
Ptgs1	A	C	2: 36,132,782 (GRCm39)	D260A	probably benign	Het
Ptprd	T	A	4: 75,865,384 (GRCm39)	T1198S	probably damaging	Het
Qsox2	A	G	2: 26,104,074 (GRCm39)	S319P	probably damaging	Het
Rab35	A	G	5: 115,778,147 (GRCm39)	I38V	probably damaging	Het
Rapgef4	A	G	2: 71,861,408 (GRCm39)	I33V	possibly damaging	Het
Rbbp8nl	C	T	2: 179,924,006 (GRCm39)		probably benign	Het
Riok1	A	T	13: 38,242,694 (GRCm39)	K473*	probably null	Het
Rtca	C	T	3: 116,287,764 (GRCm39)	G288S	probably benign	Het
Sag	A	T	1: 87,742,570 (GRCm39)	D114V	probably benign	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sec61g	A	G	11: 16,456,371 (GRCm39)		probably null	Het
Sf3a3	A	T	4: 124,623,288 (GRCm39)	I440F	probably damaging	Het
Sgta	T	C	10: 80,884,695 (GRCm39)	K205E	possibly damaging	Het
Slc36a4	A	G	9: 15,632,006 (GRCm39)	T61A	probably damaging	Het
Slc5a4a	T	C	10: 76,002,569 (GRCm39)	S242P	probably benign	Het
Srgap3	A	T	6: 112,748,479 (GRCm39)	L391Q	probably damaging	Het
Stard13	T	C	5: 151,018,903 (GRCm39)	Y60C	probably damaging	Het
Styxl2	T	C	1: 165,928,415 (GRCm39)	Y399C	possibly damaging	Het
Syt12	G	T	19: 4,497,825 (GRCm39)	H386N	probably damaging	Het
Thyn1	T	A	9: 26,915,070 (GRCm39)	M74K	probably benign	Het
Tmem130	C	A	5: 144,689,093 (GRCm39)		probably null	Het
Trim71	A	G	9: 114,392,016 (GRCm39)	V57A	possibly damaging	Het
Twf1	T	C	15: 94,483,428 (GRCm39)		probably benign	Het
Tyro3	T	A	2: 119,632,176 (GRCm39)	I81N	possibly damaging	Het
Unc13a	A	T	8: 72,105,043 (GRCm39)	C740S	probably damaging	Het
Vmn1r15	A	T	6: 57,235,616 (GRCm39)	K161N	probably benign	Het
Vmn1r16	A	T	6: 57,299,884 (GRCm39)	I246N	probably damaging	Het
Vmn1r42	A	G	6: 89,821,597 (GRCm39)	I324T	probably benign	Het
Vmn2r35	T	C	7: 7,819,805 (GRCm39)	Y155C	possibly damaging	Het
Wif1	T	A	10: 120,919,788 (GRCm39)		probably null	Het
Wscd2	G	A	5: 113,689,231 (GRCm39)	R79Q	possibly damaging	Het
Zan	G	T	5: 137,404,139 (GRCm39)		probably benign	Het
Zfp9	G	T	6: 118,442,021 (GRCm39)	H214N	probably benign	Het
Zfp985	A	T	4: 147,667,315 (GRCm39)	Y61F	probably benign	Het
Zscan30	A	G	18: 24,104,524 (GRCm39)		noncoding transcript	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
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
R7139:Adam23	UTSW	1	63,584,736 (GRCm39)	missense	probably damaging	1.00
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'- AGCAGCTGAGCCTCATTTC -3'
(R):5'- CTGAAGTAATAGTTTGGTAGAGAGC -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- AGGTCTATACTCACAGTCTTT -3'

Posted On

2014-06-23