Mutagenetix > Incidental Mutation

Incidental Mutation 'R9110:Adam20'

692203

Institutional Source

Beutler Lab

Gene Symbol

Adam20

Ensembl Gene

ENSMUSG00000046282

Gene Name

a disintegrin and metallopeptidase domain 20

Synonyms

4930529F22Rik

MMRRC Submission

068919-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41246310-41250340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41248907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 339 (D339G)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

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

AlphaFold

Q7M763

Predicted Effect

probably benign
Transcript: ENSMUST00000056331
AA Change: D339G

PolyPhen 2 Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: D339G

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,831,615 (GRCm39)		probably benign	Het
Adam3	T	A	8: 25,193,821 (GRCm39)	Y397F	probably benign	Het
Ago3	C	T	4: 126,248,829 (GRCm39)	G574E	probably damaging	Het
Angptl4	T	A	17: 33,999,800 (GRCm39)	Y133F	probably benign	Het
Ankrd61	T	C	5: 143,831,759 (GRCm39)	D15G	possibly damaging	Het
Arfgap1	T	A	2: 180,615,330 (GRCm39)	S174T	possibly damaging	Het
Arhgap12	T	C	18: 6,034,539 (GRCm39)	D549G	possibly damaging	Het
Arhgap25	T	C	6: 87,453,254 (GRCm39)	E182G	probably benign	Het
Astn1	T	G	1: 158,496,327 (GRCm39)	I1127S	probably benign	Het
Bivm	T	C	1: 44,168,526 (GRCm39)		probably null	Het
Cdc42bpa	T	A	1: 179,945,258 (GRCm39)	S952T	possibly damaging	Het
Cfap44	T	A	16: 44,255,923 (GRCm39)	L1005Q	probably damaging	Het
Cmklr1	G	C	5: 113,752,043 (GRCm39)	H319Q	probably benign	Het
Cog1	T	C	11: 113,544,807 (GRCm39)	F330L	possibly damaging	Het
Dnah2	T	G	11: 69,435,208 (GRCm39)	D54A	probably benign	Het
Dntt	A	T	19: 41,044,197 (GRCm39)		probably null	Het
Eml2	A	G	7: 18,925,620 (GRCm39)	S240G	probably benign	Het
Fam174b	G	A	7: 73,416,371 (GRCm39)		probably benign	Het
Fancd2	T	C	6: 113,512,762 (GRCm39)	S33P	possibly damaging	Het
Fars2	A	T	13: 36,430,402 (GRCm39)	M277L	probably benign	Het
Ifnar1	G	A	16: 91,302,150 (GRCm39)	G542S	probably benign	Het
Itih5	T	C	2: 10,191,831 (GRCm39)	V122A	probably benign	Het
Jph3	A	G	8: 122,516,201 (GRCm39)	I740V	probably benign	Het
Krtap16-1	C	T	11: 99,877,386 (GRCm39)	C6Y	probably benign	Het
Mettl25b	G	A	3: 87,834,978 (GRCm39)	H57Y	probably benign	Het
Mpeg1	A	T	19: 12,440,014 (GRCm39)	T491S	probably benign	Het
Mroh8	T	A	2: 157,055,605 (GRCm39)	I998L	possibly damaging	Het
Nrxn1	G	A	17: 90,869,233 (GRCm39)	Q124*	probably null	Het
Nup188	T	A	2: 30,222,461 (GRCm39)	S1028T	possibly damaging	Het
Nxf1	A	T	19: 8,745,118 (GRCm39)	H456L	probably damaging	Het
Or2aj6	T	A	16: 19,443,743 (GRCm39)	I36F	possibly damaging	Het
Or2n1d	C	A	17: 38,646,434 (GRCm39)	P129T	probably damaging	Het
Or5af2	T	A	11: 58,707,959 (GRCm39)	S42T	possibly damaging	Het
Or5w19	T	A	2: 87,698,543 (GRCm39)	D69E	probably damaging	Het
Or6c66	T	A	10: 129,461,820 (GRCm39)	I37F	possibly damaging	Het
Otx2	T	C	14: 48,896,227 (GRCm39)	N277S	probably damaging	Het
Pax4	T	C	6: 28,445,201 (GRCm39)	N158S	probably benign	Het
Pgm2	T	G	5: 64,261,159 (GRCm39)	S218A	probably benign	Het
Plb1	T	C	5: 32,521,402 (GRCm39)	S1418P	probably benign	Het
Prkd3	T	A	17: 79,292,751 (GRCm39)	D107V	probably damaging	Het
Prl2a1	A	G	13: 27,992,398 (GRCm39)	E174G	probably benign	Het
Prr7	C	T	13: 55,620,574 (GRCm39)	P194L	probably damaging	Het
Psmd2	T	C	16: 20,470,994 (GRCm39)	S46P	probably damaging	Het
Ptbp2	C	T	3: 119,541,258 (GRCm39)	A231T	possibly damaging	Het
Rae1	A	G	2: 172,854,016 (GRCm39)	T265A	probably benign	Het
Sct	T	C	7: 140,859,007 (GRCm39)	E2G	unknown	Het
Sec14l3	T	G	11: 4,015,007 (GRCm39)		probably null	Het
Sfxn3	T	A	19: 45,038,727 (GRCm39)	N131K	probably damaging	Het
Slc18a2	A	T	19: 59,282,326 (GRCm39)	D511V	probably benign	Het
Slc20a2	T	C	8: 23,025,457 (GRCm39)	I53T	probably damaging	Het
Smad4	T	C	18: 73,782,941 (GRCm39)	D331G	probably damaging	Het
Srms	C	T	2: 180,848,050 (GRCm39)	R485H		Het
Szt2	C	A	4: 118,242,630 (GRCm39)	A1486S	possibly damaging	Het
Tmem87b	C	T	2: 128,684,615 (GRCm39)	Q459*	probably null	Het
Vdr	A	T	15: 97,782,753 (GRCm39)	I23N	probably damaging	Het
Vmn1r204	T	C	13: 22,740,564 (GRCm39)	V65A	possibly damaging	Het
Vps33b	A	G	7: 79,939,743 (GRCm39)	D498G	probably benign	Het
Zfp442	T	A	2: 150,250,093 (GRCm39)	Y603F	probably benign	Het
Zfp853	T	A	5: 143,275,320 (GRCm39)	Q115L	unknown	Het
Zmiz2	C	A	11: 6,348,271 (GRCm39)	Q303K	probably benign	Het

Other mutations in Adam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Adam20	APN	8	41,249,084 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- GAAATCTTGTGCCCGTGGATAG -3'
(R):5'- TTGCGCAAACAATTGGTAGTAGC -3'

Sequencing Primer
(F):5'- GCCCGTGGATAGAATGCAAATTCTTC -3'
(R):5'- CGCAAACAATTGGTAGTAGCATATG -3'

Posted On

2021-12-30