Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00321:Adam39'

13279

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 #

IGL00321

Quality Score

Status

Chromosome

Chromosomal Location

41276046-41279898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41279783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 725 (R725G)

Ref Sequence

ENSEMBL: ENSMUSP00000065783 (fasta)

Gene Model

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

AlphaFold

Q7M762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066814
AA Change: R725G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: R725G

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,078,418 (GRCm39)	I602T	probably benign	Het
Arid2	A	G	15: 96,186,970 (GRCm39)	E74G	probably damaging	Het
Carf	T	A	1: 60,164,001 (GRCm39)		probably benign	Het
Cit	A	T	5: 115,984,524 (GRCm39)	Q32L	probably damaging	Het
Dennd4b	A	G	3: 90,178,514 (GRCm39)	T526A	possibly damaging	Het
Dnhd1	A	G	7: 105,327,202 (GRCm39)	E717G	probably damaging	Het
Ercc6	T	A	14: 32,290,029 (GRCm39)	I968N	probably damaging	Het
Fcrl1	A	T	3: 87,296,942 (GRCm39)	Y297F	probably damaging	Het
Gas2l3	A	G	10: 89,249,489 (GRCm39)	L543P	probably benign	Het
Hid1	A	T	11: 115,249,895 (GRCm39)	D84E	probably benign	Het
Ifit1bl2	C	T	19: 34,597,319 (GRCm39)	S99N	probably benign	Het
Kpna3	A	G	14: 61,629,302 (GRCm39)		probably benign	Het
Myadm	C	A	7: 3,345,739 (GRCm39)	P167Q	possibly damaging	Het
Ociad1	C	T	5: 73,461,886 (GRCm39)		probably benign	Het
Or2t43	A	C	11: 58,457,593 (GRCm39)	Y193D	probably damaging	Het
Pcdh11x	A	T	X: 119,502,265 (GRCm39)	K1029N	probably benign	Het
Pcdhb11	A	G	18: 37,555,026 (GRCm39)	T119A	probably benign	Het
Phldb2	T	C	16: 45,592,617 (GRCm39)	R926G	probably damaging	Het
Ppwd1	A	G	13: 104,353,651 (GRCm39)	F369S	probably damaging	Het
Rreb1	T	A	13: 38,100,472 (GRCm39)	M201K	probably benign	Het
Ryr1	A	T	7: 28,802,235 (GRCm39)	I795N	probably damaging	Het
Slc3a1	T	C	17: 85,368,261 (GRCm39)	W510R	probably damaging	Het
Slc44a5	T	C	3: 153,968,576 (GRCm39)	L589P	probably damaging	Het
Tfr2	A	G	5: 137,572,717 (GRCm39)	D176G	probably null	Het
Tom1	T	A	8: 75,778,802 (GRCm39)	S24T	probably benign	Het
Vmn2r66	T	A	7: 84,656,299 (GRCm39)	Q239L	probably benign	Het
Ythdc2	A	G	18: 44,993,040 (GRCm39)	T149A	probably benign	Het
Zc3h3	A	G	15: 75,651,162 (GRCm39)	I686T	probably damaging	Het

Other mutations in Adam39

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06