Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02186:Adam21'

283635

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam21

Ensembl Gene

ENSMUSG00000008438

Gene Name

a disintegrin and metallopeptidase domain 21

Synonyms

ADAM31

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02186

Quality Score

Status

Chromosome

Chromosomal Location

81605358-81615248 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81605983 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 593 (T593I)

Ref Sequence

ENSEMBL: ENSMUSP00000008582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000008582]

AlphaFold

Q9JI76

Predicted Effect

possibly damaging
Transcript: ENSMUST00000008582
AA Change: T593I

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000008582
Gene: ENSMUSG00000008438
AA Change: T593I

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Pep_M12B_propep	39	164	5.1e-21	PFAM
Pfam:Reprolysin_4	212	389	2.5e-11	PFAM
Pfam:Reprolysin	212	402	7.3e-50	PFAM
Pfam:Reprolysin_5	214	400	5.8e-19	PFAM
Pfam:Reprolysin_2	233	393	1.3e-14	PFAM
Pfam:Reprolysin_3	236	356	6.5e-16	PFAM
DISIN	419	494	2.45e-37	SMART
ACR	495	631	6.49e-62	SMART
EGF	637	667	2.03e1	SMART
transmembrane domain	687	709	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166971

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [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
9130230L23Rik	A	G	5: 66,145,811 (GRCm39)	F100S	unknown	Het
Abca3	A	G	17: 24,596,714 (GRCm39)	Y389C	possibly damaging	Het
Acrbp	G	T	6: 125,031,773 (GRCm39)		probably null	Het
Adipor1	T	A	1: 134,353,698 (GRCm39)	M161K	probably benign	Het
Agrp	A	T	8: 106,293,821 (GRCm39)	N48K	probably benign	Het
Asprv1	A	T	6: 86,605,900 (GRCm39)	M249L	probably damaging	Het
Begain	A	G	12: 108,999,278 (GRCm39)	Y703H	probably damaging	Het
Bspry	T	A	4: 62,414,226 (GRCm39)		probably benign	Het
Cct8l1	T	G	5: 25,721,836 (GRCm39)	S184A	probably benign	Het
Cdk13	C	T	13: 17,947,112 (GRCm39)	V549I	probably benign	Het
Cdyl2	C	T	8: 117,306,025 (GRCm39)	R412Q	possibly damaging	Het
Celf6	T	C	9: 59,510,808 (GRCm39)	S205P	probably damaging	Het
Cltc	G	A	11: 86,595,811 (GRCm39)	A1263V	possibly damaging	Het
Cltc	C	A	11: 86,595,812 (GRCm39)	A1263S	possibly damaging	Het
Ctnnd2	T	A	15: 30,480,939 (GRCm39)	F62L	probably damaging	Het
Dlec1	T	A	9: 118,972,695 (GRCm39)	C1473S	probably benign	Het
Dmbt1	T	A	7: 130,694,986 (GRCm39)		probably benign	Het
Dnase1	G	A	16: 3,856,896 (GRCm39)	V176I	probably benign	Het
Dusp1	G	T	17: 26,726,032 (GRCm39)	Y220*	probably null	Het
Enpp3	A	C	10: 24,667,881 (GRCm39)		probably benign	Het
Exosc10	T	C	4: 148,649,755 (GRCm39)	L395P	probably damaging	Het
Fn1	T	C	1: 71,677,693 (GRCm39)	K533R	probably damaging	Het
Gcm2	T	A	13: 41,258,125 (GRCm39)	T168S	possibly damaging	Het
Gm9924	C	A	5: 31,252,491 (GRCm39)		probably benign	Het
Ifrd1	A	G	12: 40,264,092 (GRCm39)	V101A	probably benign	Het
Iqsec1	G	T	6: 90,653,859 (GRCm39)	Q629K	probably damaging	Het
Kcnma1	T	A	14: 23,576,881 (GRCm39)	M254L	probably benign	Het
Krit1	T	C	5: 3,859,733 (GRCm39)		probably benign	Het
Letm1	T	C	5: 33,902,391 (GRCm39)	K633E	probably benign	Het
Mfsd1	A	G	3: 67,503,928 (GRCm39)	I307V	probably benign	Het
Mtrr	T	C	13: 68,712,476 (GRCm39)	T637A	probably benign	Het
Naxe	C	A	3: 87,964,305 (GRCm39)	D212Y	probably damaging	Het
Nlk	A	T	11: 78,477,762 (GRCm39)	V327D	probably damaging	Het
Or2f1b	A	G	6: 42,739,880 (GRCm39)	K298R	probably null	Het
Or5w11	A	T	2: 87,459,715 (GRCm39)	I187F	probably benign	Het
Pdzd8	C	T	19: 59,289,060 (GRCm39)	G780D	probably damaging	Het
Prune1	T	C	3: 95,166,548 (GRCm39)		probably benign	Het
Qser1	A	T	2: 104,618,606 (GRCm39)	H645Q	probably damaging	Het
Rd3l	A	G	12: 111,945,901 (GRCm39)	Y193H	probably benign	Het
Reln	A	G	5: 22,114,956 (GRCm39)	Y3119H	probably damaging	Het
Scel	C	T	14: 103,802,257 (GRCm39)	A219V	probably benign	Het
Skint11	A	T	4: 114,101,833 (GRCm39)	Q91L	possibly damaging	Het
Slc39a10	G	A	1: 46,857,288 (GRCm39)	A696V	probably damaging	Het
Slc5a5	C	A	8: 71,338,764 (GRCm39)	D516Y	possibly damaging	Het
Slc8b1	G	A	5: 120,665,928 (GRCm39)		probably null	Het
Slc9a3	A	G	13: 74,311,233 (GRCm39)	E576G	possibly damaging	Het
Slco1b2	A	T	6: 141,580,271 (GRCm39)		probably benign	Het
Smc5	A	G	19: 23,209,223 (GRCm39)	V647A	probably damaging	Het
Snph	T	C	2: 151,436,263 (GRCm39)	N222D	possibly damaging	Het
Srbd1	A	G	17: 86,416,659 (GRCm39)	F500L	probably benign	Het
Stxbp6	T	C	12: 44,948,806 (GRCm39)	D101G	probably damaging	Het
Taar7b	A	G	10: 23,875,879 (GRCm39)	I15V	probably benign	Het
Tdrd12	G	T	7: 35,200,826 (GRCm39)	N338K	probably damaging	Het
Tmem214	G	A	5: 31,030,090 (GRCm39)	A296T	probably benign	Het
Tmem219	A	T	7: 126,495,988 (GRCm39)	D128E	probably benign	Het
Togaram2	A	G	17: 71,992,166 (GRCm39)	T3A	possibly damaging	Het
Ttn	C	T	2: 76,724,627 (GRCm39)		probably benign	Het
Uchl1	C	A	5: 66,834,382 (GRCm39)	C47*	probably null	Het
Unc79	T	G	12: 102,977,542 (GRCm39)	S182A	probably benign	Het
Vmn2r1	A	G	3: 63,989,138 (GRCm39)	T26A	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vps54	T	C	11: 21,256,947 (GRCm39)	V685A	probably damaging	Het
Zcchc7	T	G	4: 44,762,250 (GRCm39)	V126G	possibly damaging	Het
Zmym2	A	G	14: 57,180,808 (GRCm39)	T907A	probably benign	Het

Other mutations in Adam21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02311:Adam21	APN	12	81,607,666 (GRCm39)	missense	probably benign	0.01
IGL03132:Adam21	APN	12	81,607,148 (GRCm39)	nonsense	probably null
IGL03225:Adam21	APN	12	81,606,043 (GRCm39)	missense	probably benign	0.00
BB009:Adam21	UTSW	12	81,606,938 (GRCm39)	missense	probably damaging	0.98
BB019:Adam21	UTSW	12	81,606,938 (GRCm39)	missense	probably damaging	0.98
R0305:Adam21	UTSW	12	81,607,059 (GRCm39)	missense	possibly damaging	0.96
R0634:Adam21	UTSW	12	81,607,126 (GRCm39)	missense	probably benign	0.01
R1415:Adam21	UTSW	12	81,606,321 (GRCm39)	nonsense	probably null
R1961:Adam21	UTSW	12	81,606,282 (GRCm39)	nonsense	probably null
R1996:Adam21	UTSW	12	81,606,376 (GRCm39)	missense	possibly damaging	0.79
R2159:Adam21	UTSW	12	81,607,241 (GRCm39)	missense	probably benign	0.17
R2215:Adam21	UTSW	12	81,607,064 (GRCm39)	missense	probably damaging	1.00
R3780:Adam21	UTSW	12	81,606,047 (GRCm39)	missense	probably damaging	1.00
R3964:Adam21	UTSW	12	81,607,583 (GRCm39)	missense	possibly damaging	0.46
R4356:Adam21	UTSW	12	81,605,594 (GRCm39)	missense	probably damaging	0.99
R4503:Adam21	UTSW	12	81,607,672 (GRCm39)	missense	probably benign
R4795:Adam21	UTSW	12	81,607,748 (GRCm39)	missense	probably benign	0.06
R4925:Adam21	UTSW	12	81,607,163 (GRCm39)	missense	probably benign
R4932:Adam21	UTSW	12	81,605,692 (GRCm39)	missense	probably benign	0.14
R5110:Adam21	UTSW	12	81,606,989 (GRCm39)	missense	probably benign	0.40
R5831:Adam21	UTSW	12	81,605,875 (GRCm39)	missense	probably benign	0.06
R6289:Adam21	UTSW	12	81,607,480 (GRCm39)	missense	probably damaging	1.00
R6500:Adam21	UTSW	12	81,606,380 (GRCm39)	missense	probably benign	0.01
R7077:Adam21	UTSW	12	81,605,893 (GRCm39)	missense	probably damaging	1.00
R7083:Adam21	UTSW	12	81,607,015 (GRCm39)	missense	possibly damaging	0.81
R7173:Adam21	UTSW	12	81,606,008 (GRCm39)	missense	probably benign	0.24
R7176:Adam21	UTSW	12	81,607,022 (GRCm39)	missense	possibly damaging	0.94
R7232:Adam21	UTSW	12	81,607,330 (GRCm39)	missense	probably damaging	0.99
R7371:Adam21	UTSW	12	81,607,064 (GRCm39)	missense	probably damaging	1.00
R7486:Adam21	UTSW	12	81,605,657 (GRCm39)	missense	probably benign	0.00
R7522:Adam21	UTSW	12	81,605,722 (GRCm39)	missense	possibly damaging	0.78
R7918:Adam21	UTSW	12	81,607,378 (GRCm39)	missense	possibly damaging	0.64
R7932:Adam21	UTSW	12	81,606,938 (GRCm39)	missense	probably damaging	0.98
R8040:Adam21	UTSW	12	81,607,211 (GRCm39)	missense	probably benign	0.04
R8486:Adam21	UTSW	12	81,607,550 (GRCm39)	missense	probably benign	0.08
R8750:Adam21	UTSW	12	81,607,247 (GRCm39)	nonsense	probably null
R8881:Adam21	UTSW	12	81,606,650 (GRCm39)	missense	probably benign	0.02
R9084:Adam21	UTSW	12	81,606,160 (GRCm39)	missense	probably damaging	1.00
R9541:Adam21	UTSW	12	81,607,724 (GRCm39)	missense	probably benign
R9564:Adam21	UTSW	12	81,605,833 (GRCm39)	missense	probably damaging	1.00
Z1088:Adam21	UTSW	12	81,607,460 (GRCm39)	missense	probably damaging	1.00
Z1176:Adam21	UTSW	12	81,606,517 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16