Mutagenetix > Incidental Mutation

Incidental Mutation 'R6708:Adam20'

529017

Institutional Source

Beutler Lab

Gene Symbol

Adam20

Ensembl Gene

ENSMUSG00000046282

Gene Name

a disintegrin and metallopeptidase domain 20

Synonyms

4930529F22Rik

MMRRC Submission

044826-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6708 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41246310-41250340 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41249531 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 547 (L547P)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

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

AlphaFold

Q7M763

Predicted Effect

probably damaging
Transcript: ENSMUST00000056331
AA Change: L547P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: L547P

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

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atp8b5	T	G	4: 43,334,249 (GRCm39)	H338Q	probably benign	Het
Btbd3	A	G	2: 138,125,491 (GRCm39)	E225G	possibly damaging	Het
Cd163	A	G	6: 124,286,167 (GRCm39)	H239R	probably damaging	Het
Cdh15	T	C	8: 123,590,294 (GRCm39)	I409T	probably benign	Het
Cep55	T	A	19: 38,048,709 (GRCm39)	S122T	probably benign	Het
Col5a3	G	A	9: 20,686,331 (GRCm39)	P1382L	unknown	Het
Ehmt2	A	T	17: 35,118,875 (GRCm39)	K186*	probably null	Het
Elavl2	A	T	4: 91,141,634 (GRCm39)	I295N	probably damaging	Het
Elf5	A	G	2: 103,279,334 (GRCm39)	D185G	probably damaging	Het
Emx1	A	G	6: 85,171,122 (GRCm39)	E175G	probably damaging	Het
Fan1	T	G	7: 64,022,554 (GRCm39)	N233T	probably benign	Het
Frem2	T	A	3: 53,492,922 (GRCm39)	I1865F	probably benign	Het
Kcnu1	A	G	8: 26,427,739 (GRCm39)	D352G	probably benign	Het
Klhdc1	A	T	12: 69,306,304 (GRCm39)	H247L	possibly damaging	Het
L3mbtl4	A	T	17: 68,937,253 (GRCm39)	T425S	probably benign	Het
Mrpl21	T	C	19: 3,336,890 (GRCm39)	V87A	probably damaging	Het
Or4d11	A	T	19: 12,014,103 (GRCm39)	M1K	probably null	Het
Or5ac21	T	A	16: 59,124,416 (GRCm39)	L301Q	probably damaging	Het
Or6c215	G	T	10: 129,637,689 (GRCm39)	A235D	probably damaging	Het
Orc4	A	T	2: 48,827,505 (GRCm39)	H29Q	probably benign	Het
Pcnx2	C	T	8: 126,587,692 (GRCm39)		probably null	Het
Pogk	A	G	1: 166,231,078 (GRCm39)	V83A	probably damaging	Het
Synm	T	C	7: 67,382,994 (GRCm39)	E1556G	possibly damaging	Het
Tmem109	C	A	19: 10,849,395 (GRCm39)	L153F	probably damaging	Het
Ttc8	A	G	12: 98,909,791 (GRCm39)	T74A	probably damaging	Het
Zfp180	A	T	7: 23,805,521 (GRCm39)	T647S	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- ATCTTCCAGAATGGTGCAACG -3'
(R):5'- ACCAATGTCAGGGATTGTCATC -3'

Sequencing Primer
(F):5'- TGGTGCAACGGACATTCAC -3'
(R):5'- TGTCATCCCAAAATGGTAGTCAGTCC -3'

Posted On

2018-07-24