Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Adam20'

372169

Institutional Source

Beutler Lab

Gene Symbol

Adam20

Ensembl Gene

ENSMUSG00000046282

Gene Name

a disintegrin and metallopeptidase domain 20

Synonyms

4930529F22Rik

MMRRC Submission

042459-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40793273-40797303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40795011 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 53 (T53A)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

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

AlphaFold

Q7M763

Predicted Effect

probably benign
Transcript: ENSMUST00000056331
AA Change: T53A

PolyPhen 2 Score 0.098 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: T53A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210152

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,233	D591G	probably benign	Het
9930012K11Rik	T	A	14: 70,155,943	H299L	probably damaging	Het
Abcb4	C	T	5: 8,935,180	A687V	probably benign	Het
Afg1l	G	A	10: 42,454,494	T59I	probably benign	Het
AI837181	A	G	19: 5,426,301	Q164R	probably benign	Het
Anapc15	T	A	7: 101,897,767	I12N	probably benign	Het
Ankrd55	A	C	13: 112,363,454	E278D	probably benign	Het
Axin2	A	G	11: 108,942,299	T437A	probably benign	Het
BC051665	T	C	13: 60,784,081	D168G	probably damaging	Het
Btbd11	A	G	10: 85,629,266	T657A	probably damaging	Het
Cd200	C	T	16: 45,392,301	R261H	probably benign	Het
Clk1	G	A	1: 58,421,102	S123L	probably benign	Het
Csrnp2	A	T	15: 100,484,690	D156E	probably damaging	Het
Ctss	C	T	3: 95,545,384	Q159*	probably null	Het
Dip2a	A	G	10: 76,321,493	S93P	probably damaging	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dync1h1	C	A	12: 110,658,126	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,616,809	R542Q	probably benign	Het
Fmo3	T	C	1: 162,954,311	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,536,893	M140K	probably benign	Het
Ghsr	T	C	3: 27,371,837	V14A	probably benign	Het
Gm17546	C	A	15: 95,829,962		probably benign	Het
Gprc5c	G	T	11: 114,864,267	V257L	possibly damaging	Het
Hc	A	G	2: 35,019,670	V866A	probably benign	Het
Hoxb6	G	A	11: 96,299,522	G116R	probably damaging	Het
Hykk	A	G	9: 54,920,606	Y43C	probably damaging	Het
Jade2	T	C	11: 51,821,148	T495A	probably benign	Het
Kansl1	A	T	11: 104,342,972	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,479,113	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,256,997	N406K	probably damaging	Het
Met	A	T	6: 17,491,929	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,482,836	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,808,536	T112A	possibly damaging	Het
Nek11	T	A	9: 105,163,163	E566D	probably damaging	Het
Nostrin	T	C	2: 69,175,579	S235P	probably damaging	Het
Npas4	C	A	19: 4,986,777	S453I	probably benign	Het
Pnkp	C	T	7: 44,862,403	S113L	probably damaging	Het
Psg18	A	T	7: 18,350,786	Y128*	probably null	Het
Ptges3l	A	T	11: 101,419,184		probably benign	Het
Pus1	T	C	5: 110,779,930		probably benign	Het
Raf1	T	A	6: 115,644,583	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 88,806,578		noncoding transcript	Het
Slc5a4b	A	G	10: 76,062,239	L547P	probably damaging	Het
Socs3	A	G	11: 117,967,828	S135P	probably benign	Het
St5	C	A	7: 109,556,836	E236*	probably null	Het
Stra6l	G	A	4: 45,873,682	V281M	possibly damaging	Het
Suco	G	A	1: 161,834,408	T818I	possibly damaging	Het
Syde1	A	T	10: 78,588,897	V367D	probably damaging	Het
Tet3	A	T	6: 83,376,883	L932*	probably null	Het
Trpm7	G	A	2: 126,813,185	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,541,065	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,617,294	Q92R	possibly damaging	Het

Other mutations in Adam20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Adam20	APN	8	40796047	missense	probably benign	0.00
IGL01357:Adam20	APN	8	40796560	missense	probably benign	0.09
IGL01877:Adam20	APN	8	40795945	missense	probably benign	0.00
IGL02295:Adam20	APN	8	40796836	missense	probably damaging	1.00
IGL02683:Adam20	APN	8	40795584	missense	probably damaging	0.98
IGL03090:Adam20	APN	8	40794928	missense	probably benign	0.00
BB007:Adam20	UTSW	8	40797070	missense	probably benign	0.00
BB017:Adam20	UTSW	8	40797070	missense	probably benign	0.00
PIT4151001:Adam20	UTSW	8	40795044	missense	possibly damaging	0.58
PIT4696001:Adam20	UTSW	8	40794948	missense	probably benign	0.20
R0607:Adam20	UTSW	8	40795480	missense	probably benign	0.02
R0885:Adam20	UTSW	8	40796558	missense	probably benign	0.02
R1018:Adam20	UTSW	8	40796109	nonsense	probably null
R1147:Adam20	UTSW	8	40795618	missense	possibly damaging	0.82
R1147:Adam20	UTSW	8	40795618	missense	possibly damaging	0.82
R1421:Adam20	UTSW	8	40796747	missense	possibly damaging	0.48
R1739:Adam20	UTSW	8	40796558	missense	probably benign	0.02
R1778:Adam20	UTSW	8	40796661	missense	possibly damaging	0.92
R1844:Adam20	UTSW	8	40796043	missense	probably benign
R3814:Adam20	UTSW	8	40795675	missense	probably damaging	1.00
R3877:Adam20	UTSW	8	40796634	missense	possibly damaging	0.75
R4193:Adam20	UTSW	8	40795315	missense	probably damaging	0.99
R4357:Adam20	UTSW	8	40795047	missense	possibly damaging	0.61
R5452:Adam20	UTSW	8	40795764	missense	probably damaging	0.96
R6559:Adam20	UTSW	8	40796292	missense	probably benign	0.03
R6708:Adam20	UTSW	8	40796494	missense	probably damaging	1.00
R6730:Adam20	UTSW	8	40796659	missense	probably benign	0.23
R7194:Adam20	UTSW	8	40796412	missense	probably benign	0.45
R7323:Adam20	UTSW	8	40795384	missense	probably benign	0.45
R7917:Adam20	UTSW	8	40796371	missense	probably damaging	1.00
R7930:Adam20	UTSW	8	40797070	missense	probably benign	0.00
R7954:Adam20	UTSW	8	40796544	missense	probably damaging	1.00
R7964:Adam20	UTSW	8	40796907	missense	probably damaging	0.97
R8006:Adam20	UTSW	8	40795907	missense	probably benign	0.02
R8125:Adam20	UTSW	8	40794936	missense	probably benign	0.01
R8134:Adam20	UTSW	8	40796064	missense	probably benign	0.02
R8435:Adam20	UTSW	8	40795035	missense	probably damaging	1.00
R8530:Adam20	UTSW	8	40796034	missense	probably damaging	1.00
R8695:Adam20	UTSW	8	40795828	missense	probably benign	0.13
R8757:Adam20	UTSW	8	40795906	missense	probably benign	0.00
R8871:Adam20	UTSW	8	40795564	missense	probably damaging	0.98
R8935:Adam20	UTSW	8	40794952	missense	probably benign	0.00
R9110:Adam20	UTSW	8	40795870	missense	probably benign	0.14
R9696:Adam20	UTSW	8	40796596	missense	probably damaging	0.99
R9703:Adam20	UTSW	8	40795934	missense	probably damaging	1.00
R9706:Adam20	UTSW	8	40795453	missense	probably benign	0.00
R9712:Adam20	UTSW	8	40795453	missense	probably benign	0.00
R9713:Adam20	UTSW	8	40795453	missense	probably benign	0.00
R9715:Adam20	UTSW	8	40795453	missense	probably benign	0.00
X0062:Adam20	UTSW	8	40797024	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TTAAAAGCCAGCACTGCATG -3'
(R):5'- TGGCCATGGTAGTAGCAATCATTC -3'

Sequencing Primer
(F):5'- CTGCATGCAGACAACACAAAGGG -3'
(R):5'- ATCATTCTGGACATAAGGCTGGTCC -3'

Posted On

2016-03-01