Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Adam39'

513340

Institutional Source

Beutler Lab

Gene Symbol

Adam39

Ensembl Gene

ENSMUSG00000054033

Gene Name

a disintegrin and metallopeptidase domain 39

Synonyms

1700056P18Rik, testase 9

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40822990-40827037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40826681 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 703 (V703A)

Ref Sequence

ENSEMBL: ENSMUSP00000065783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066814]

AlphaFold

Q7M762

Predicted Effect

probably benign
Transcript: ENSMUST00000066814
AA Change: V703A

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: V703A

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	53	178	1.3e-19	PFAM
Pfam:Reprolysin_5	219	398	2.2e-18	PFAM
Pfam:Reprolysin_4	219	406	6.8e-16	PFAM
Pfam:Reprolysin	221	410	1.3e-43	PFAM
Pfam:Reprolysin_2	238	399	2.6e-12	PFAM
Pfam:Reprolysin_3	246	366	1.2e-17	PFAM
DISIN	428	503	3.97e-37	SMART
ACR	504	640	8.95e-74	SMART
transmembrane domain	702	724	N/A	INTRINSIC
low complexity region	734	745	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	A	13: 81,414,583	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,577,678	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,710,864	C575W	probably damaging	Het
Car14	T	A	3: 95,898,175	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,736,546	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,093,043	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,616,236		probably null	Het
Emilin1	A	G	5: 30,918,218	E601G	probably damaging	Het
Erbin	T	A	13: 103,845,565	Q456L	probably damaging	Het
Glp1r	T	C	17: 30,932,644	V405A	probably benign	Het
Gm10220	C	G	5: 26,120,305		probably null	Het
Gm2016	A	G	12: 87,877,000	E139G	unknown	Het
Gm527	A	T	12: 64,923,548	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,672,760	M1K	probably null	Het
H2-DMa	T	A	17: 34,137,984	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,801,537	H54Q	probably damaging	Het
Hspa12b	T	C	2: 131,137,066		probably benign	Het
Iars	C	A	13: 49,727,143	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,939	V1357A	probably benign	Het
Magi3	T	C	3: 104,050,952	M606V	probably damaging	Het
Mia	T	C	7: 27,180,978	D24G	probably benign	Het
Mon2	A	T	10: 123,013,504	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,296,012	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,320,319	G87D	probably damaging	Het
Npnt	C	T	3: 132,904,718	V415I	probably benign	Het
Ntsr2	A	G	12: 16,656,768	I266V	probably benign	Het
Olfr259	T	C	2: 87,108,434		probably benign	Het
Olfr736	A	T	14: 50,393,388	I211F	possibly damaging	Het
Pkmyt1	T	A	17: 23,733,656		probably null	Het
Polr1e	T	C	4: 45,026,813	L166P	probably damaging	Het
Ppib	T	G	9: 66,061,474	F48C	probably damaging	Het
Ppl	C	A	16: 5,087,929	E1501*	probably null	Het
Prpf8	T	C	11: 75,491,495	V384A	probably benign	Het
Ptch1	T	G	13: 63,513,689	S1212R	probably damaging	Het
Ralb	C	A	1: 119,476,005	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,844,235	M141K	probably damaging	Het
Rgl2	T	A	17: 33,937,131		probably null	Het
Rpl27	A	G	11: 101,443,956		probably benign	Het
Sdc1	A	C	12: 8,791,297	T213P	probably damaging	Het
Setx	T	A	2: 29,171,348	N2256K	possibly damaging	Het
Shank2	A	G	7: 144,031,297	M12V	probably benign	Het
Slc22a28	T	A	19: 8,071,888	K332M	probably damaging	Het
Slf2	A	T	19: 44,935,425	H226L	probably benign	Het
Tbc1d10b	T	C	7: 127,203,412	S362G	probably benign	Het
Tbxas1	G	A	6: 38,952,112		probably benign	Het
Tctn1	A	G	5: 122,261,512	V83A	probably damaging	Het
Tgm4	A	G	9: 123,056,518	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,133,114	Y247*	probably null	Het
Tmem167b	C	T	3: 108,558,895	R79H	possibly damaging	Het
Tmprss7	T	G	16: 45,669,573	M429L	probably benign	Het
Tnfsf18	T	A	1: 161,503,579	D99E	probably benign	Het
Tnrc18	A	T	5: 142,727,981	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,678,994	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,219,637	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,047,902	Q84R	probably benign	Het
Tspan18	T	C	2: 93,209,874	R179G	probably benign	Het
Tspan8	G	T	10: 115,833,227	V56L	probably benign	Het
Zbtb22	T	C	17: 33,918,737	S619P	probably damaging	Het
Zfp2	A	T	11: 50,900,601	I205N	probably damaging	Het
Zfpm1	A	G	8: 122,337,111		probably benign	Het

Other mutations in Adam39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Adam39	APN	8	40826746	missense	possibly damaging	0.53
IGL01350:Adam39	APN	8	40825839	nonsense	probably null
IGL02237:Adam39	APN	8	40825445	missense	probably benign	0.39
IGL02688:Adam39	APN	8	40826320	missense	probably benign	0.00
IGL02890:Adam39	APN	8	40825153	missense	probably benign	0.03
IGL03071:Adam39	APN	8	40825067	missense	probably benign	0.08
IGL03145:Adam39	APN	8	40824658	missense	probably benign	0.00
R0083:Adam39	UTSW	8	40825078	missense	probably damaging	0.98
R0086:Adam39	UTSW	8	40826360	missense	possibly damaging	0.64
R0546:Adam39	UTSW	8	40826431	missense	probably damaging	1.00
R0548:Adam39	UTSW	8	40826467	missense	probably damaging	1.00
R1489:Adam39	UTSW	8	40824994	missense	possibly damaging	0.49
R1643:Adam39	UTSW	8	40826486	missense	possibly damaging	0.83
R1756:Adam39	UTSW	8	40825324	missense	probably damaging	0.99
R2081:Adam39	UTSW	8	40826842	makesense	probably null
R4510:Adam39	UTSW	8	40826291	missense	probably damaging	1.00
R4511:Adam39	UTSW	8	40826291	missense	probably damaging	1.00
R4612:Adam39	UTSW	8	40825921	missense	probably damaging	0.96
R4673:Adam39	UTSW	8	40824731	missense	probably benign	0.37
R4704:Adam39	UTSW	8	40825796	missense	probably benign
R4978:Adam39	UTSW	8	40825337	missense	possibly damaging	0.49
R5116:Adam39	UTSW	8	40825001	missense	probably damaging	1.00
R5269:Adam39	UTSW	8	40825981	missense	probably benign	0.01
R5710:Adam39	UTSW	8	40824647	missense	probably benign	0.05
R5971:Adam39	UTSW	8	40824593	missense	probably benign	0.01
R6067:Adam39	UTSW	8	40824593	missense	probably benign	0.01
R6078:Adam39	UTSW	8	40824593	missense	probably benign	0.01
R6180:Adam39	UTSW	8	40826573	missense	probably benign	0.03
R6699:Adam39	UTSW	8	40826657	missense	probably benign	0.01
R6896:Adam39	UTSW	8	40824938	missense	possibly damaging	0.86
R7117:Adam39	UTSW	8	40826242	missense	probably damaging	1.00
R7186:Adam39	UTSW	8	40826312	missense	probably damaging	1.00
R7195:Adam39	UTSW	8	40824775	nonsense	probably null
R7381:Adam39	UTSW	8	40825963	missense	probably damaging	1.00
R7405:Adam39	UTSW	8	40824622	missense	probably benign	0.01
R8068:Adam39	UTSW	8	40825938	missense	not run
R8205:Adam39	UTSW	8	40825043	missense	probably benign	0.06
R8239:Adam39	UTSW	8	40825069	missense	probably damaging	1.00
R8792:Adam39	UTSW	8	40826576	missense	probably benign
R8978:Adam39	UTSW	8	40825670	missense	probably damaging	1.00
R9472:Adam39	UTSW	8	40826314	missense	possibly damaging	0.89
R9562:Adam39	UTSW	8	40824718	missense	probably benign
R9565:Adam39	UTSW	8	40824718	missense	probably benign
R9570:Adam39	UTSW	8	40824650	missense	probably benign	0.09
R9593:Adam39	UTSW	8	40826707	missense	possibly damaging	0.68
U15987:Adam39	UTSW	8	40824593	missense	probably benign	0.01
Z1177:Adam39	UTSW	8	40825295	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTCAGTGTTCACCCACTACATG -3'
(R):5'- CACATATTGAACATGGAAACTGGAG -3'

Sequencing Primer
(F):5'- CCACTACATGCAGCATGAAAGGTG -3'
(R):5'- GGGTTCTTCACTCATAGGT -3'

Posted On

2018-04-27