Mutagenetix > Incidental Mutation

Incidental Mutation 'R4978:Adam39'

384603

Institutional Source

Beutler Lab

Gene Symbol

Adam39

Ensembl Gene

ENSMUSG00000054033

Gene Name

a disintegrin and metallopeptidase domain 39

Synonyms

1700056P18Rik, testase 9

MMRRC Submission

042573-MU

Accession Numbers

Essential gene?

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

Stock #

R4978 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41276046-41279898 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41278374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 255 (I255T)

Ref Sequence

ENSEMBL: ENSMUSP00000065783 (fasta)

Gene Model

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

AlphaFold

Q7M762

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066814
AA Change: I255T

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

SMART Domains

Protein: ENSMUSP00000065783
Gene: ENSMUSG00000054033
AA Change: I255T

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam29	G	A	8: 56,324,436 (GRCm39)	P673S	probably damaging	Het
Adgrg6	A	G	10: 14,296,205 (GRCm39)	F1093S	probably damaging	Het
Amer3	A	G	1: 34,618,381 (GRCm39)		probably benign	Het
Avil	A	T	10: 126,854,265 (GRCm39)	N744I	probably benign	Het
B430305J03Rik	T	C	3: 61,271,440 (GRCm39)		probably benign	Het
Caps2	A	T	10: 112,018,399 (GRCm39)	Q141L	probably benign	Het
Capza2	T	A	6: 17,662,114 (GRCm39)	D201E	probably null	Het
Ccdc7b	T	C	8: 129,836,688 (GRCm39)		probably null	Het
Clcn6	C	T	4: 148,093,227 (GRCm39)	V818I	probably benign	Het
Cpeb4	C	T	11: 31,881,509 (GRCm39)	H723Y	probably null	Het
Cspp1	T	A	1: 10,153,742 (GRCm39)	F384I	possibly damaging	Het
Cyp2c50	T	G	19: 40,086,501 (GRCm39)	V355G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Dpys	A	T	15: 39,690,332 (GRCm39)	D340E	possibly damaging	Het
Dsp	T	A	13: 38,366,210 (GRCm39)	L548Q	probably damaging	Het
Dyrk2	A	T	10: 118,696,252 (GRCm39)	D335E	probably benign	Het
Etaa1	T	C	11: 17,896,581 (GRCm39)	D512G	probably damaging	Het
Fam210b	G	C	2: 172,187,585 (GRCm39)	A2P	probably damaging	Het
Fbxo9	G	A	9: 77,993,168 (GRCm39)		probably benign	Het
Fh1	A	T	1: 175,431,533 (GRCm39)	M451K	probably damaging	Het
Flrt1	A	G	19: 7,074,241 (GRCm39)	L102P	probably damaging	Het
Gins2	A	G	8: 121,315,550 (GRCm39)	L40S	possibly damaging	Het
Gm5436	G	A	12: 84,305,461 (GRCm39)		noncoding transcript	Het
Gm7298	T	G	6: 121,710,076 (GRCm39)		probably null	Het
Gm7353	A	G	7: 3,160,038 (GRCm39)		noncoding transcript	Het
Gramd1a	T	C	7: 30,832,213 (GRCm39)	E608G	possibly damaging	Het
Hcls1	T	C	16: 36,758,222 (GRCm39)	W38R	probably damaging	Het
Ik	C	T	18: 36,880,468 (GRCm39)	P51S	possibly damaging	Het
Irx1	A	G	13: 72,111,604 (GRCm39)	S2P	possibly damaging	Het
Kng2	T	A	16: 22,806,666 (GRCm39)	N511I	probably damaging	Het
Limk2	G	T	11: 3,359,069 (GRCm39)		probably benign	Het
Map1a	T	G	2: 121,131,623 (GRCm39)	V813G	probably benign	Het
Mast1	T	C	8: 85,662,416 (GRCm39)	T31A	probably damaging	Het
N4bp2	T	C	5: 65,947,583 (GRCm39)	F71S	probably damaging	Het
Neurod1	C	T	2: 79,284,571 (GRCm39)	G271R	probably damaging	Het
Or52x1	T	C	7: 104,853,398 (GRCm39)	I51V	probably benign	Het
Pcdhb22	A	G	18: 37,651,654 (GRCm39)	T41A	probably benign	Het
Pclo	T	A	5: 14,764,492 (GRCm39)	S4322T	probably benign	Het
Pde9a	T	A	17: 31,692,197 (GRCm39)	D497E	probably benign	Het
Plaa	A	G	4: 94,478,169 (GRCm39)	S98P	possibly damaging	Het
Prl2c1	A	G	13: 28,041,553 (GRCm39)	T192A	probably benign	Het
Ptpn18	T	C	1: 34,508,894 (GRCm39)		probably benign	Het
Rab27b	C	T	18: 70,127,585 (GRCm39)	V68I	probably benign	Het
Reep5	A	G	18: 34,506,349 (GRCm39)	F9S	probably damaging	Het
Scaf11	T	C	15: 96,313,798 (GRCm39)	N1328D	probably damaging	Het
Slc25a13	G	A	6: 6,042,300 (GRCm39)	S626F	probably damaging	Het
Smg1	A	G	7: 117,753,470 (GRCm39)		probably benign	Het
Spock2	T	A	10: 59,966,911 (GRCm39)	F332I	probably benign	Het
Tep1	C	T	14: 51,082,891 (GRCm39)	R1039Q	possibly damaging	Het
Thap1	AGCAGCATCTGCTCG	AG	8: 26,650,882 (GRCm39)		probably null	Het
Tradd	T	C	8: 105,985,900 (GRCm39)	Q217R	probably benign	Het
Umodl1	T	C	17: 31,205,055 (GRCm39)	I550T	probably benign	Het
Vgll3	T	A	16: 65,612,572 (GRCm39)	Y18*	probably null	Het
Vmn1r49	G	T	6: 90,049,872 (GRCm39)	N43K	probably benign	Het
Vps50	A	G	6: 3,517,808 (GRCm39)	N82S	probably benign	Het
Vstm2a	A	G	11: 16,211,460 (GRCm39)	D90G	possibly damaging	Het
Vwa3b	A	G	1: 37,154,752 (GRCm39)	Y512C	probably damaging	Het
Wrnip1	A	G	13: 33,000,295 (GRCm39)	D434G	probably damaging	Het
Zan	C	T	5: 137,405,183 (GRCm39)		probably benign	Het
Zfp286	A	G	11: 62,679,754 (GRCm39)		probably null	Het
Zkscan17	A	G	11: 59,384,053 (GRCm39)	V123A	possibly damaging	Het
Zkscan2	C	G	7: 123,094,542 (GRCm39)	A211P	possibly damaging	Het
Zswim4	C	T	8: 84,953,296 (GRCm39)		probably null	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
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

Predicted Primers

PCR Primer
(F):5'- CCCATGAGATGTGCATTGACAG -3'
(R):5'- GGCCACACCAAGGTAAATTTG -3'

Sequencing Primer
(F):5'- TGTGCATTGACAGAAGAGATAGC -3'
(R):5'- GCCACACCAAGGTAAATTTGAAAATC -3'

Posted On

2016-05-10