Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00595:Adam20'

6228

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam20

Ensembl Gene

ENSMUSG00000046282

Gene Name

a disintegrin and metallopeptidase domain 20

Synonyms

4930529F22Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00595

Quality Score

Status

Chromosome

Chromosomal Location

41246310-41250340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41249084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 398 (F398Y)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056331]

AlphaFold

Q7M763

Predicted Effect

probably benign
Transcript: ENSMUST00000056331
AA Change: F398Y

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: F398Y

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	51	177	1.3e-19	PFAM
Pfam:Reprolysin_5	219	399	5.4e-16	PFAM
Pfam:Reprolysin_4	219	408	5.4e-11	PFAM
Pfam:Reprolysin	221	411	3.1e-45	PFAM
Pfam:Reprolysin_3	248	366	2.5e-13	PFAM
Pfam:Reprolysin_2	295	403	1e-14	PFAM
DISIN	429	504	4.29e-33	SMART
ACR	505	641	3.9e-74	SMART
transmembrane domain	703	722	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057J18Rik	G	A	10: 28,849,954 (GRCm39)	R161*	probably null	Het
Ano1	T	A	7: 144,192,250 (GRCm39)	I374F	probably damaging	Het
Apol10a	A	T	15: 77,369,135 (GRCm39)	N45Y	probably null	Het
Asnsd1	A	G	1: 53,386,647 (GRCm39)	S327P	probably damaging	Het
Ccdc83	T	A	7: 89,893,252 (GRCm39)	K168N	probably damaging	Het
Chmp1b2	A	G	X: 106,831,450 (GRCm39)	S189P	probably damaging	Het
Dpysl4	G	T	7: 138,676,092 (GRCm39)	V274F	probably damaging	Het
Fxr2	T	G	11: 69,540,018 (GRCm39)	S292A	probably benign	Het
Gm15130	T	A	2: 110,969,322 (GRCm39)	D132V	unknown	Het
Gpr161	A	G	1: 165,146,372 (GRCm39)	H436R	probably benign	Het
Jaml	C	T	9: 45,012,287 (GRCm39)		probably benign	Het
Kcnc2	A	T	10: 112,297,893 (GRCm39)	S606C	probably damaging	Het
Kcnc2	G	T	10: 112,297,892 (GRCm39)	E605D	probably benign	Het
Kcnrg	T	C	14: 61,845,359 (GRCm39)	I133T	probably damaging	Het
Kdm7a	A	G	6: 39,121,444 (GRCm39)	I837T	probably benign	Het
Lactb2	A	G	1: 13,700,350 (GRCm39)	L227S	probably benign	Het
Lats1	T	G	10: 7,578,069 (GRCm39)	S398A	probably benign	Het
Llgl2	T	A	11: 115,725,710 (GRCm39)	D19E	probably benign	Het
Nup107	A	T	10: 117,609,257 (GRCm39)	C365*	probably null	Het
Nup107	T	C	10: 117,609,273 (GRCm39)		probably null	Het
Plekhf2	T	C	4: 10,991,022 (GRCm39)	K107E	probably damaging	Het
Rnf139	A	T	15: 58,770,391 (GRCm39)	I139F	possibly damaging	Het
Rsbn1	A	G	3: 103,836,006 (GRCm39)	N348S	probably benign	Het
Rttn	A	T	18: 88,992,464 (GRCm39)	Q136H	probably benign	Het
Syne2	C	T	12: 75,972,420 (GRCm39)	T1052I	possibly damaging	Het
Tom1l1	A	T	11: 90,565,566 (GRCm39)	L101Q	probably damaging	Het
Tubal3	A	G	13: 3,983,015 (GRCm39)	N265S	probably damaging	Het
Zfp141	T	C	7: 42,126,079 (GRCm39)	N131S	probably benign	Het
Zfp944	T	C	17: 22,558,186 (GRCm39)	S354G	probably benign	Het
Zfp961	G	A	8: 72,722,272 (GRCm39)	A262T	probably damaging	Het

Other mutations in Adam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01357:Adam20	APN	8	41,249,597 (GRCm39)	missense	probably benign	0.09
IGL01877:Adam20	APN	8	41,248,982 (GRCm39)	missense	probably benign	0.00
IGL02295:Adam20	APN	8	41,249,873 (GRCm39)	missense	probably damaging	1.00
IGL02683:Adam20	APN	8	41,248,621 (GRCm39)	missense	probably damaging	0.98
IGL03090:Adam20	APN	8	41,247,965 (GRCm39)	missense	probably benign	0.00
BB007:Adam20	UTSW	8	41,250,107 (GRCm39)	missense	probably benign	0.00
BB017:Adam20	UTSW	8	41,250,107 (GRCm39)	missense	probably benign	0.00
PIT4151001:Adam20	UTSW	8	41,248,081 (GRCm39)	missense	possibly damaging	0.58
PIT4696001:Adam20	UTSW	8	41,247,985 (GRCm39)	missense	probably benign	0.20
R0607:Adam20	UTSW	8	41,248,517 (GRCm39)	missense	probably benign	0.02
R0885:Adam20	UTSW	8	41,249,595 (GRCm39)	missense	probably benign	0.02
R1018:Adam20	UTSW	8	41,249,146 (GRCm39)	nonsense	probably null
R1147:Adam20	UTSW	8	41,248,655 (GRCm39)	missense	possibly damaging	0.82
R1147:Adam20	UTSW	8	41,248,655 (GRCm39)	missense	possibly damaging	0.82
R1421:Adam20	UTSW	8	41,249,784 (GRCm39)	missense	possibly damaging	0.48
R1739:Adam20	UTSW	8	41,249,595 (GRCm39)	missense	probably benign	0.02
R1778:Adam20	UTSW	8	41,249,698 (GRCm39)	missense	possibly damaging	0.92
R1844:Adam20	UTSW	8	41,249,080 (GRCm39)	missense	probably benign
R3814:Adam20	UTSW	8	41,248,712 (GRCm39)	missense	probably damaging	1.00
R3877:Adam20	UTSW	8	41,249,671 (GRCm39)	missense	possibly damaging	0.75
R4193:Adam20	UTSW	8	41,248,352 (GRCm39)	missense	probably damaging	0.99
R4357:Adam20	UTSW	8	41,248,084 (GRCm39)	missense	possibly damaging	0.61
R4846:Adam20	UTSW	8	41,248,048 (GRCm39)	missense	probably benign	0.10
R5452:Adam20	UTSW	8	41,248,801 (GRCm39)	missense	probably damaging	0.96
R6559:Adam20	UTSW	8	41,249,329 (GRCm39)	missense	probably benign	0.03
R6708:Adam20	UTSW	8	41,249,531 (GRCm39)	missense	probably damaging	1.00
R6730:Adam20	UTSW	8	41,249,696 (GRCm39)	missense	probably benign	0.23
R7194:Adam20	UTSW	8	41,249,449 (GRCm39)	missense	probably benign	0.45
R7323:Adam20	UTSW	8	41,248,421 (GRCm39)	missense	probably benign	0.45
R7917:Adam20	UTSW	8	41,249,408 (GRCm39)	missense	probably damaging	1.00
R7930:Adam20	UTSW	8	41,250,107 (GRCm39)	missense	probably benign	0.00
R7954:Adam20	UTSW	8	41,249,581 (GRCm39)	missense	probably damaging	1.00
R7964:Adam20	UTSW	8	41,249,944 (GRCm39)	missense	probably damaging	0.97
R8006:Adam20	UTSW	8	41,248,944 (GRCm39)	missense	probably benign	0.02
R8125:Adam20	UTSW	8	41,247,973 (GRCm39)	missense	probably benign	0.01
R8134:Adam20	UTSW	8	41,249,101 (GRCm39)	missense	probably benign	0.02
R8435:Adam20	UTSW	8	41,248,072 (GRCm39)	missense	probably damaging	1.00
R8530:Adam20	UTSW	8	41,249,071 (GRCm39)	missense	probably damaging	1.00
R8695:Adam20	UTSW	8	41,248,865 (GRCm39)	missense	probably benign	0.13
R8757:Adam20	UTSW	8	41,248,943 (GRCm39)	missense	probably benign	0.00
R8871:Adam20	UTSW	8	41,248,601 (GRCm39)	missense	probably damaging	0.98
R8935:Adam20	UTSW	8	41,247,989 (GRCm39)	missense	probably benign	0.00
R9110:Adam20	UTSW	8	41,248,907 (GRCm39)	missense	probably benign	0.14
R9696:Adam20	UTSW	8	41,249,633 (GRCm39)	missense	probably damaging	0.99
R9703:Adam20	UTSW	8	41,248,971 (GRCm39)	missense	probably damaging	1.00
R9706:Adam20	UTSW	8	41,248,490 (GRCm39)	missense	probably benign	0.00
R9712:Adam20	UTSW	8	41,248,490 (GRCm39)	missense	probably benign	0.00
R9713:Adam20	UTSW	8	41,248,490 (GRCm39)	missense	probably benign	0.00
R9715:Adam20	UTSW	8	41,248,490 (GRCm39)	missense	probably benign	0.00
X0062:Adam20	UTSW	8	41,250,061 (GRCm39)	missense	probably benign	0.03

Posted On

2012-04-20