Mutagenetix > Incidental Mutation

Incidental Mutation 'R7917:Adam20'

648144

Institutional Source

Beutler Lab

Gene Symbol

Adam20

Ensembl Gene

ENSMUSG00000046282

Gene Name

a disintegrin and metallopeptidase domain 20

Synonyms

4930529F22Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7917 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40793273-40797303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40796371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 506 (D506G)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

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

AlphaFold

Q7M763

Predicted Effect

probably damaging
Transcript: ENSMUST00000056331
AA Change: D506G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: D506G

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 110,068,107	H730Q	probably damaging	Het
Brinp1	A	G	4: 68,904,953	M1T	probably null	Het
Ccnc	T	A	4: 21,748,158	N273K	possibly damaging	Het
Cfdp1	C	A	8: 111,840,401	V159L	possibly damaging	Het
Cyb5r1	T	A	1: 134,406,900		probably benign	Het
Dsp	C	T	13: 38,167,639	Q145*	probably null	Het
Exosc9	G	A	3: 36,553,819	V59I	probably damaging	Het
Fermt2	C	G	14: 45,461,861	R592T	probably damaging	Het
Fryl	A	G	5: 73,054,532	S2381P	probably damaging	Het
Fscn2	G	A	11: 120,367,256	E335K	possibly damaging	Het
Hapln1	T	C	13: 89,607,878	I267T	probably benign	Het
Hdac9	T	A	12: 34,433,210	I93L	probably benign	Het
Igfn1	T	C	1: 135,971,968	D535G	probably damaging	Het
Ighv1-4	A	T	12: 114,487,545	F9I	possibly damaging	Het
Il3ra	T	A	14: 14,350,773	H262Q	possibly damaging	Het
Kti12	A	C	4: 108,848,246	E119A	probably benign	Het
Kti12	G	T	4: 108,848,247	E119D	probably benign	Het
Mtg1	A	T	7: 140,147,265	D227V	probably damaging	Het
Nrcam	T	G	12: 44,573,763		probably null	Het
Olfr1308	A	C	2: 111,960,965	V36G	probably damaging	Het
Olfr309	T	C	7: 86,306,478	T212A	probably damaging	Het
Olfr906	T	A	9: 38,488,609	Y193*	probably null	Het
Pcdha1	T	A	18: 36,932,201	D639E	possibly damaging	Het
Pcdhga8	T	A	18: 37,727,616	V575E	possibly damaging	Het
Pcif1	G	T	2: 164,888,472	R375L	probably benign	Het
Pcna	A	T	2: 132,253,009	S10T	probably benign	Het
Pdzd8	A	G	19: 59,345,086	S168P	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Polq	T	A	16: 37,065,288	D1842E	probably benign	Het
Rag2	A	T	2: 101,629,695	N117Y	probably damaging	Het
Scnn1g	T	C	7: 121,743,693	Y290H	probably damaging	Het
Sri	T	C	5: 8,063,409		probably null	Het
Tek	T	C	4: 94,820,135	V361A	possibly damaging	Het
Terf1	T	A	1: 15,819,076	L243Q	probably damaging	Het
Thrap3	G	A	4: 126,175,420	T646I	probably damaging	Het
Uba1y	A	G	Y: 821,274	I86V	probably benign	Het
Vmn2r29	A	G	7: 7,231,728	S720P	probably damaging	Het
Zeb2	T	C	2: 44,996,409	N879D	possibly damaging	Het
Zfp266	T	C	9: 20,505,127	T56A	probably benign	Het
Zxdc	T	A	6: 90,382,009	I541N	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
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
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
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'- GTTGTAACTCCAGGTGTGCC -3'
(R):5'- TCTCACATTGAACTCTGCCACAG -3'

Sequencing Primer
(F):5'- TAACTCCAGGTGTGCCCTTAATGATG -3'
(R):5'- AGGATGTCTGAGTCATGACATC -3'

Posted On

2020-09-15