Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02688:Adam39'

303629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam39

Ensembl Gene

ENSMUSG00000054033

Gene Name

a disintegrin and metallopeptidase domain 39

Synonyms

1700056P18Rik, testase 9

Accession Numbers

Essential gene?

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

Stock #

IGL02688

Quality Score

Status

Chromosome

Chromosomal Location

41276046-41279898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41279357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 583 (R583S)

Ref Sequence

ENSEMBL: ENSMUSP00000065783 (fasta)

Gene Model

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

AlphaFold

Q7M762

Predicted Effect

probably benign
Transcript: ENSMUST00000066814
AA Change: R583S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: R583S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcl9l	C	T	9: 44,416,560 (GRCm39)	T211I	possibly damaging	Het
C6	A	G	15: 4,827,802 (GRCm39)	I724V	probably benign	Het
Cacna2d4	T	A	6: 119,247,710 (GRCm39)		probably null	Het
Casp4	A	G	9: 5,322,844 (GRCm39)	E40G	possibly damaging	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Dnah7a	A	C	1: 53,483,631 (GRCm39)	M3382R	possibly damaging	Het
Dst	T	C	1: 34,235,033 (GRCm39)	L3526P	probably damaging	Het
Eya4	A	G	10: 23,035,008 (GRCm39)	S116P	probably benign	Het
Gabra4	T	A	5: 71,729,510 (GRCm39)	E423D	probably benign	Het
Ighv1-67	T	G	12: 115,567,643 (GRCm39)	T90P	probably damaging	Het
Kcnh8	A	G	17: 53,266,471 (GRCm39)	T828A	probably benign	Het
Nr5a2	A	G	1: 136,868,145 (GRCm39)		probably null	Het
Nup214	C	T	2: 31,921,287 (GRCm39)	P1237S	probably benign	Het
Phactr3	A	G	2: 177,920,792 (GRCm39)	D215G	probably damaging	Het
Phf2	G	T	13: 48,959,315 (GRCm39)	P897Q	unknown	Het
Pla2r1	T	C	2: 60,285,545 (GRCm39)	R690G	probably damaging	Het
Ppargc1b	A	G	18: 61,445,314 (GRCm39)	S181P	possibly damaging	Het
Sele	A	T	1: 163,877,699 (GRCm39)	I165F	probably damaging	Het
Srcap	T	C	7: 127,141,625 (GRCm39)	S1626P	probably benign	Het
Tenm2	A	G	11: 35,959,285 (GRCm39)	I1088T	probably benign	Het
Tnrc18	T	C	5: 142,775,927 (GRCm39)	S69G	probably damaging	Het
Trmt5	C	A	12: 73,328,232 (GRCm39)	E324*	probably null	Het
Ttll3	T	C	6: 113,376,700 (GRCm39)	I360T	probably benign	Het
Zfp277	A	G	12: 40,378,687 (GRCm39)	V390A	possibly damaging	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
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
R8068:Adam39	UTSW	8	41,278,975 (GRCm39)	missense	not run
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

Posted On

2015-04-16