Mutagenetix > Incidental Mutations

Incidental Mutation 'R1489:Adam39'

163605

Institutional Source

Beutler Lab

Gene Symbol

Adam39

Ensembl Gene

ENSMUSG00000054033

Gene Name

a disintegrin and metallopeptidase domain 39

Synonyms

1700056P18Rik, testase 9

MMRRC Submission

039541-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1489 (G1)

Quality Score

173

Status

Not validated

Chromosome

Chromosomal Location

40822990-40827037 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40824994 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 141 (T141A)

Ref Sequence

ENSEMBL: ENSMUSP00000065783 (fasta)

Gene Model

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

AlphaFold

Q7M762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066814
AA Change: T141A

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: T141A

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: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

96% (52/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700097O09Rik	A	G	12: 55,059,510	S143P	possibly damaging	Het
4930522H14Rik	T	C	4: 109,505,457	K218E	possibly damaging	Het
Abcb1a	T	A	5: 8,686,300		probably null	Het
Adam6b	T	A	12: 113,491,451	S629R	probably benign	Het
Ap3b2	C	A	7: 81,463,690	E924*	probably null	Het
Armc3	A	T	2: 19,310,047	Y856F	probably benign	Het
Asap1	A	G	15: 64,172,730	L142P	probably damaging	Het
Atg9a	T	A	1: 75,186,090	D427V	probably damaging	Het
Atl2	G	A	17: 79,852,706	A17V	probably benign	Het
Atxn2l	A	T	7: 126,496,467	S379T	probably damaging	Het
C1ql3	G	T	2: 13,010,642	P69Q	possibly damaging	Het
Cap2	A	T	13: 46,609,635	I114F	probably damaging	Het
Cox16	T	C	12: 81,474,615	N135S	probably null	Het
Dnajc13	A	T	9: 104,231,035	H180Q	possibly damaging	Het
Dpy19l3	A	T	7: 35,725,410	Y73*	probably null	Het
Duox2	T	A	2: 122,293,396	M436L	probably benign	Het
Exoc6	T	A	19: 37,597,120	M481K	possibly damaging	Het
Fbxw2	GCCCCC	GCCCCCCCC	2: 34,812,817		probably benign	Het
Fmn1	T	A	2: 113,365,212	V419E	unknown	Het
Fndc4	T	C	5: 31,293,451	*232W	probably null	Het
Foxc1	C	T	13: 31,808,612	R469*	probably null	Het
Fsip2	A	G	2: 82,979,811	H2158R	probably benign	Het
Ghdc	C	T	11: 100,768,257	G373D	probably benign	Het
Gm10330	A	T	12: 23,780,031	S50T	probably benign	Het
Gm8251	A	G	1: 44,057,790	F1383L	probably benign	Het
Gm8251	T	C	1: 44,061,507	I144V	probably benign	Het
Hlx	G	T	1: 184,731,987	A52D	probably damaging	Het
Lonrf1	A	G	8: 36,222,954	V650A	probably damaging	Het
Map1a	T	C	2: 121,300,437	V578A	possibly damaging	Het
Mbd3	C	G	10: 80,393,906	D190H	probably damaging	Het
Mcpt9	T	C	14: 56,027,519	K175R	probably benign	Het
Mia3	A	G	1: 183,338,674	S85P	probably benign	Het
Myrip	T	C	9: 120,432,529	F403L	probably damaging	Het
Nox4	A	G	7: 87,304,889	Y134C	probably damaging	Het
Numb	A	G	12: 83,795,443	L642P	probably damaging	Het
Pappa	A	T	4: 65,180,948	Y568F	possibly damaging	Het
Pdzrn4	T	C	15: 92,677,712	L333P	probably benign	Het
Prl	A	T	13: 27,057,636	S3C	probably damaging	Het
Ptprc	T	C	1: 138,120,086	T60A	possibly damaging	Het
Rbm10	C	T	X: 20,637,664		probably benign	Het
Slc7a7	C	T	14: 54,408,646	R120H	probably damaging	Het
Smpd1	T	C	7: 105,556,554		probably null	Het
Spta1	A	G	1: 174,231,325	E1942G	probably damaging	Het
Tmem38a	A	G	8: 72,579,635	Y66C	probably damaging	Het
Tnnt1	A	T	7: 4,507,525	Y232*	probably null	Het
Tpte	T	C	8: 22,349,389		probably null	Het
Virma	T	C	4: 11,521,164	V907A	probably damaging	Het
Vmn1r174	C	T	7: 23,754,556	Q216*	probably null	Het
Zswim3	T	C	2: 164,819,981	V127A	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
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
R6358:Adam39	UTSW	8	40826681	missense	probably benign	0.16
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
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'- ACCAGCCTCCCAGAAGTAGTGATAC -3'
(R):5'- TGCCAGGTCAAGAAAACTCCTGTG -3'

Sequencing Primer
(F):5'- AAGTAGTGATACCCTTACGGGTC -3'
(R):5'- GGGTCCACCATCCTTCATAGTG -3'

Posted On

2014-03-28