Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Adam20'

632173

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 #

R8134 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40793273-40797303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40796064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 404 (T404A)

Ref Sequence

ENSEMBL: ENSMUSP00000057794 (fasta)

Gene Model

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

AlphaFold

Q7M763

Predicted Effect

probably benign
Transcript: ENSMUST00000056331
AA Change: T404A

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000057794
Gene: ENSMUSG00000046282
AA Change: T404A

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: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Jhy	A	G	9: 40,960,892	V107A	probably null	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	probably benign	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
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
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'- GGTACTGTCTGTCTGCCATC -3'
(R):5'- TCTGGCAATATAAGCAGCAAAGC -3'

Sequencing Primer
(F):5'- TCTGCCATCTCATAATTGTGGAG -3'
(R):5'- GCCCAAAAGCACAGGCAG -3'

Posted On

2020-06-30