Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Adam39'

620109

Institutional Source

Beutler Lab

Gene Symbol

Adam39

Ensembl Gene

ENSMUSG00000054033

Gene Name

a disintegrin and metallopeptidase domain 39

Synonyms

1700056P18Rik, testase 9

MMRRC Submission

067503-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41276046-41279898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41278975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 455 (D455E)

Ref Sequence

ENSEMBL: ENSMUSP00000065783 (fasta)

Gene Model

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

AlphaFold

Q7M762

Predicted Effect

not run
Transcript: ENSMUST00000066814
AA Change: D455E

SMART Domains

Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: D455E

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldoc	T	C	11: 78,215,553 (GRCm39)	F79S	possibly damaging	Het
Atmin	A	G	8: 117,683,389 (GRCm39)	S350G	probably benign	Het
Bms1	A	G	6: 118,390,711 (GRCm39)	F206S	probably damaging	Het
Carmil1	T	A	13: 24,259,711 (GRCm39)	I698L	probably benign	Het
Cd47	T	A	16: 49,715,779 (GRCm39)	S182T		Het
Ces2e	G	T	8: 105,659,629 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,394,229 (GRCm39)	S373G	not run	Het
Cit	C	A	5: 116,090,525 (GRCm39)	H906Q	probably damaging	Het
Cit	T	C	5: 116,120,294 (GRCm39)	S1370P	probably benign	Het
Dchs2	T	C	3: 83,207,745 (GRCm39)	F1739L	probably benign	Het
Dlx4	T	C	11: 95,036,156 (GRCm39)	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,276 (GRCm39)	Y796*	probably null	Het
Elf1	T	A	14: 79,773,830 (GRCm39)	F14I	probably benign	Het
Fam135b	T	C	15: 71,404,827 (GRCm39)	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Gls2	C	G	10: 128,030,983 (GRCm39)	R81G	unknown	Het
Hnrnpll	T	C	17: 80,358,281 (GRCm39)	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,556,337 (GRCm39)	M726K	probably benign	Het
Kcna10	T	G	3: 107,101,726 (GRCm39)	M119R	possibly damaging	Het
Kcnh1	A	G	1: 191,924,250 (GRCm39)	T155A	probably benign	Het
Kctd9	T	A	14: 67,962,111 (GRCm39)	D51E	unknown	Het
Lgr6	T	C	1: 134,991,402 (GRCm39)	I129V	probably benign	Het
Lrrfip1	A	T	1: 91,055,824 (GRCm39)	D598V	probably damaging	Het
Ltbp4	G	T	7: 27,023,593 (GRCm39)	Q850K	probably damaging	Het
Mdm1	A	G	10: 117,982,709 (GRCm39)	R115G	possibly damaging	Het
Mns1	A	C	9: 72,355,809 (GRCm39)		probably null	Het
Mthfs	G	A	9: 89,093,288 (GRCm39)	R14Q	probably damaging	Het
Muc2	T	A	7: 141,298,422 (GRCm39)	S25T		Het
Ncapd3	T	C	9: 26,974,657 (GRCm39)	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,089,841 (GRCm39)	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Opa3	A	G	7: 18,978,910 (GRCm39)	E125G	probably damaging	Het
Or52p1	T	A	7: 104,267,460 (GRCm39)	C191*	probably null	Het
Or5ap2	A	G	2: 85,680,150 (GRCm39)	E118G	probably damaging	Het
Or5w19	A	G	2: 87,698,995 (GRCm39)	Y220C	probably benign	Het
P3h1	A	G	4: 119,094,059 (GRCm39)	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,763,555 (GRCm39)	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,138,618 (GRCm39)	N82K	probably damaging	Het
Pde4b	T	C	4: 102,453,212 (GRCm39)	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,536,630 (GRCm39)		probably benign	Het
Qki	T	C	17: 10,537,732 (GRCm39)	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,250,438 (GRCm39)	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,365,223 (GRCm39)	S415T	probably benign	Het
Scyl1	A	G	19: 5,810,853 (GRCm39)	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,648,706 (GRCm39)	V476L	possibly damaging	Het
Slc22a17	A	T	14: 55,146,365 (GRCm39)	F84I	probably benign	Het
Slc22a4	A	C	11: 53,888,269 (GRCm39)	I253S	possibly damaging	Het
Speer2	T	C	16: 69,657,412 (GRCm39)	H77R	possibly damaging	Het
Speg	T	C	1: 75,398,894 (GRCm39)	S2114P	probably damaging	Het
Synpo2	T	A	3: 122,911,041 (GRCm39)	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419 (GRCm39)	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,910,261 (GRCm39)	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,623,507 (GRCm39)	V271D	probably benign	Het
Zfp53	A	T	17: 21,729,274 (GRCm39)	T436S	probably benign	Het

Other mutations in Adam39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00321:Adam39	APN	8	41,279,783 (GRCm39)	missense	possibly damaging	0.53
IGL01350:Adam39	APN	8	41,278,876 (GRCm39)	nonsense	probably null
IGL02237:Adam39	APN	8	41,278,482 (GRCm39)	missense	probably benign	0.39
IGL02688:Adam39	APN	8	41,279,357 (GRCm39)	missense	probably benign	0.00
IGL02890:Adam39	APN	8	41,278,190 (GRCm39)	missense	probably benign	0.03
IGL03071:Adam39	APN	8	41,278,104 (GRCm39)	missense	probably benign	0.08
IGL03145:Adam39	APN	8	41,277,695 (GRCm39)	missense	probably benign	0.00
R0083:Adam39	UTSW	8	41,278,115 (GRCm39)	missense	probably damaging	0.98
R0086:Adam39	UTSW	8	41,279,397 (GRCm39)	missense	possibly damaging	0.64
R0546:Adam39	UTSW	8	41,279,468 (GRCm39)	missense	probably damaging	1.00
R0548:Adam39	UTSW	8	41,279,504 (GRCm39)	missense	probably damaging	1.00
R1489:Adam39	UTSW	8	41,278,031 (GRCm39)	missense	possibly damaging	0.49
R1643:Adam39	UTSW	8	41,279,523 (GRCm39)	missense	possibly damaging	0.83
R1756:Adam39	UTSW	8	41,278,361 (GRCm39)	missense	probably damaging	0.99
R2081:Adam39	UTSW	8	41,279,879 (GRCm39)	makesense	probably null
R4510:Adam39	UTSW	8	41,279,328 (GRCm39)	missense	probably damaging	1.00
R4511:Adam39	UTSW	8	41,279,328 (GRCm39)	missense	probably damaging	1.00
R4612:Adam39	UTSW	8	41,278,958 (GRCm39)	missense	probably damaging	0.96
R4673:Adam39	UTSW	8	41,277,768 (GRCm39)	missense	probably benign	0.37
R4704:Adam39	UTSW	8	41,278,833 (GRCm39)	missense	probably benign
R4978:Adam39	UTSW	8	41,278,374 (GRCm39)	missense	possibly damaging	0.49
R5116:Adam39	UTSW	8	41,278,038 (GRCm39)	missense	probably damaging	1.00
R5269:Adam39	UTSW	8	41,279,018 (GRCm39)	missense	probably benign	0.01
R5710:Adam39	UTSW	8	41,277,684 (GRCm39)	missense	probably benign	0.05
R5971:Adam39	UTSW	8	41,277,630 (GRCm39)	missense	probably benign	0.01
R6067:Adam39	UTSW	8	41,277,630 (GRCm39)	missense	probably benign	0.01
R6078:Adam39	UTSW	8	41,277,630 (GRCm39)	missense	probably benign	0.01
R6180:Adam39	UTSW	8	41,279,610 (GRCm39)	missense	probably benign	0.03
R6358:Adam39	UTSW	8	41,279,718 (GRCm39)	missense	probably benign	0.16
R6699:Adam39	UTSW	8	41,279,694 (GRCm39)	missense	probably benign	0.01
R6896:Adam39	UTSW	8	41,277,975 (GRCm39)	missense	possibly damaging	0.86
R7117:Adam39	UTSW	8	41,279,279 (GRCm39)	missense	probably damaging	1.00
R7186:Adam39	UTSW	8	41,279,349 (GRCm39)	missense	probably damaging	1.00
R7195:Adam39	UTSW	8	41,277,812 (GRCm39)	nonsense	probably null
R7381:Adam39	UTSW	8	41,279,000 (GRCm39)	missense	probably damaging	1.00
R7405:Adam39	UTSW	8	41,277,659 (GRCm39)	missense	probably benign	0.01
R8205:Adam39	UTSW	8	41,278,080 (GRCm39)	missense	probably benign	0.06
R8239:Adam39	UTSW	8	41,278,106 (GRCm39)	missense	probably damaging	1.00
R8792:Adam39	UTSW	8	41,279,613 (GRCm39)	missense	probably benign
R8978:Adam39	UTSW	8	41,278,707 (GRCm39)	missense	probably damaging	1.00
R9472:Adam39	UTSW	8	41,279,351 (GRCm39)	missense	possibly damaging	0.89
R9562:Adam39	UTSW	8	41,277,755 (GRCm39)	missense	probably benign
R9565:Adam39	UTSW	8	41,277,755 (GRCm39)	missense	probably benign
R9570:Adam39	UTSW	8	41,277,687 (GRCm39)	missense	probably benign	0.09
R9593:Adam39	UTSW	8	41,279,744 (GRCm39)	missense	possibly damaging	0.68
U15987:Adam39	UTSW	8	41,277,630 (GRCm39)	missense	probably benign	0.01
Z1177:Adam39	UTSW	8	41,278,332 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2020-01-23