Mutagenetix > Incidental Mutation

Incidental Mutation 'R1018:Adam20'

96606

Institutional Source

Beutler Lab

Gene Symbol

Adam20

Ensembl Gene

ENSMUSG00000046282

Gene Name

a disintegrin and metallopeptidase domain 20

Synonyms

4930529F22Rik

MMRRC Submission

039122-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1018 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40793273-40797303 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 40796109 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 419 (Q419*)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

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

AlphaFold

Q7M763

Predicted Effect

probably null
Transcript: ENSMUST00000056331
AA Change: Q419*

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: Q419*

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

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.7%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	G	T	10: 80,001,491	C403F	probably damaging	Het
Ankrd36	C	T	11: 5,646,876		probably benign	Het
Arl8b	T	A	6: 108,818,611	I170K	probably damaging	Het
Atp5f1	A	T	3: 105,954,172	V78E	possibly damaging	Het
Car9	G	T	4: 43,512,439		probably null	Het
Cgnl1	A	G	9: 71,726,058	Y4H	probably damaging	Het
Cnn2	T	C	10: 79,993,563	C176R	probably damaging	Het
Dst	A	G	1: 34,194,093	D3392G	probably damaging	Het
Eed	T	C	7: 89,967,811		probably benign	Het
Efl1	T	A	7: 82,763,013	V870E	possibly damaging	Het
Epx	T	C	11: 87,869,303	N495S	probably benign	Het
Fbxw20	T	A	9: 109,221,336	Y407F	probably benign	Het
Gbp9	T	A	5: 105,080,260	Q552L	probably benign	Het
Hspa13	C	A	16: 75,761,276	V134L	possibly damaging	Het
Il16	T	C	7: 83,674,538	N268S	probably damaging	Het
Kif14	G	A	1: 136,495,841		probably benign	Het
Lrig1	G	A	6: 94,622,602		probably benign	Het
Myo7a	T	A	7: 98,107,005	D29V	probably damaging	Het
Nsd2	A	G	5: 33,843,241	K34R	probably damaging	Het
Olfr1234	C	A	2: 89,363,179	L83F	possibly damaging	Het
P3h1	C	A	4: 119,237,907	T287K	probably damaging	Het
Pkhd1	A	T	1: 20,201,259	H3023Q	possibly damaging	Het
Plxna1	A	G	6: 89,342,960	L535P	probably damaging	Het
Ppp1r32	A	T	19: 10,479,460		probably benign	Het
Prom1	A	T	5: 44,029,714	S400R	probably benign	Het
Psap	T	G	10: 60,300,811	L523R	probably damaging	Het
Psme4	C	T	11: 30,804,310	T189I	probably damaging	Het
Ptpn12	A	T	5: 21,029,869	S39T	possibly damaging	Het
Qtrt2	T	A	16: 43,878,000	H98L	possibly damaging	Het
Rad54l2	C	A	9: 106,712,390	C601F	probably benign	Het
Sfswap	A	G	5: 129,554,576	K756R	possibly damaging	Het
Slc24a5	T	C	2: 125,068,907	V86A	probably damaging	Het
Srrm2	T	C	17: 23,822,540	S2575P	probably damaging	Het
Stam	T	C	2: 14,117,374		probably benign	Het
Tbx6	T	A	7: 126,783,192		probably benign	Het
Tmem131	A	C	1: 36,794,819	F1727V	probably damaging	Het
Tpr	T	A	1: 150,442,183	H2147Q	possibly damaging	Het
Trio	T	A	15: 27,871,171	H620L	probably damaging	Het
Uba5	T	C	9: 104,049,903	T292A	probably benign	Het
Unc5a	T	A	13: 54,990,952	V48E	possibly damaging	Het
Upf1	G	T	8: 70,338,906	H514Q	possibly damaging	Het
Usp9y	A	G	Y: 1,341,414		probably benign	Het
Vmn2r6	T	A	3: 64,556,840	D191V	probably benign	Het
Wapl	T	C	14: 34,691,906	Y242H	possibly damaging	Het
Zfp341	A	T	2: 154,646,052	N812Y	probably damaging	Het
Zfp358	C	A	8: 3,496,843	S475*	probably null	Het
Zfp957	C	A	14: 79,212,742	C539F	probably 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
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
R4846:Adam20	UTSW	8	40795011	missense	probably benign	0.10
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'- CTGGGTATGGAGCATGATAGCAGC -3'
(R):5'- AGCAGTAGCCACCATCTCTACAGG -3'

Sequencing Primer
(F):5'- AACCCCGAGTTCAGTAACTG -3'
(R):5'- AGGACACTTATGTGAATGTCCG -3'

Posted On

2014-01-05