Mutagenetix > Incidental Mutation

Incidental Mutation 'R7340:Adam30'

569753

Institutional Source

Beutler Lab

Gene Symbol

Adam30

Ensembl Gene

ENSMUSG00000043468

Gene Name

a disintegrin and metallopeptidase domain 30

Synonyms

4933424D07Rik

MMRRC Submission

045430-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7340 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98067950-98071485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98069637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 490 (N490I)

Ref Sequence

ENSEMBL: ENSMUSP00000060505 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050342] [ENSMUST00000198363]

AlphaFold

Q811Q3

Predicted Effect

probably benign
Transcript: ENSMUST00000050342
AA Change: N490I

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: N490I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Pep_M12B_propep	36	159	5.7e-20	PFAM
low complexity region	176	187	N/A	INTRINSIC
Pfam:Reprolysin	202	393	1.1e-31	PFAM
DISIN	407	482	1.6e-32	SMART
ACR	483	625	1.84e-52	SMART
transmembrane domain	690	712	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000198363

SMART Domains

Protein: ENSMUSP00000142590
Gene: ENSMUSG00000043468

Domain	Start	End	E-Value	Type
low complexity region	48	59	N/A	INTRINSIC
Pfam:Reprolysin_5	72	259	2.6e-6	PFAM
Pfam:Reprolysin	74	265	2.1e-29	PFAM
Pfam:Reprolysin_3	101	220	1.1e-4	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (83/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADAM (a disintegrin and metalloprotease domain) family. Members of this family are membrane-anchored proteins structurally related to snake venom disintegrins, and have been implicated in a variety of biological processes involving cell-cell and cell-matrix interactions, including fertilization, muscle development, and neurogenesis. This gene is testis-specific and contains a polymorphic region, resulting in isoforms with varying numbers of C-terminal repeats. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Ankrd55	A	T	13: 112,492,497 (GRCm39)	I223F	probably damaging	Het
Ano8	T	A	8: 71,935,655 (GRCm39)	E321V	probably damaging	Het
Apc2	A	G	10: 80,149,316 (GRCm39)	K1457E	probably benign	Het
Asb15	T	A	6: 24,558,513 (GRCm39)	V38E	probably benign	Het
Atp4a	T	C	7: 30,416,155 (GRCm39)	S417P	possibly damaging	Het
AY358078	A	G	14: 52,063,716 (GRCm39)	N454S	probably damaging	Het
Cables2	A	G	2: 179,903,450 (GRCm39)	Y245H		Het
Cactin	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG	10: 81,157,152 (GRCm39)		probably benign	Het
Camsap3	G	A	8: 3,637,960 (GRCm39)		probably null	Het
Ccdc178	A	T	18: 22,150,518 (GRCm39)	V705E	probably benign	Het
Ccdc47	T	C	11: 106,091,799 (GRCm39)	Q472R	possibly damaging	Het
Ccdc62	A	G	5: 124,089,283 (GRCm39)	D307G	probably damaging	Het
Cdcp3	A	G	7: 130,879,344 (GRCm39)	T1788A	unknown	Het
Cdh23	A	G	10: 60,366,775 (GRCm39)	I235T	probably benign	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cfap65	T	C	1: 74,960,742 (GRCm39)	N743D	probably benign	Het
Cimap1b	T	A	15: 89,262,610 (GRCm39)	T116S	probably benign	Het
Clec16a	A	G	16: 10,398,827 (GRCm39)	N329S	probably null	Het
Col25a1	A	G	3: 130,340,006 (GRCm39)		probably null	Het
Daam1	T	G	12: 72,035,713 (GRCm39)	D969E	probably benign	Het
Dntt	A	C	19: 41,047,004 (GRCm39)		probably null	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Dst	T	A	1: 34,229,810 (GRCm39)	Y2468N	probably benign	Het
Exosc9	A	G	3: 36,615,297 (GRCm39)	T262A	possibly damaging	Het
Exph5	G	A	9: 53,288,309 (GRCm39)	A1797T	probably damaging	Het
Fbp2	A	T	13: 62,985,061 (GRCm39)	Y287N	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Fus	T	A	7: 127,581,123 (GRCm39)		probably null	Het
Galnt9	T	A	5: 110,762,054 (GRCm39)	N397K	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gga1	A	G	15: 78,775,651 (GRCm39)	T369A	probably benign	Het
Gp1ba	T	C	11: 70,531,119 (GRCm39)	I295T	unknown	Het
Hk2	T	C	6: 82,705,873 (GRCm39)	E810G	probably benign	Het
Igsf10	A	G	3: 59,233,189 (GRCm39)	V1848A	probably damaging	Het
Insrr	G	A	3: 87,721,623 (GRCm39)		probably null	Het
Ip6k3	T	A	17: 27,367,504 (GRCm39)	M231L	probably benign	Het
Itgb8	T	C	12: 119,155,939 (GRCm39)	N171S	probably benign	Het
Ldlrad3	T	C	2: 101,897,184 (GRCm39)		probably null	Het
Ltbp1	T	A	17: 75,634,223 (GRCm39)	C886*	probably null	Het
Mettl13	T	C	1: 162,366,547 (GRCm39)	D444G	probably benign	Het
Mns1	A	G	9: 72,356,025 (GRCm39)	Y224C	probably damaging	Het
Mri1	C	T	8: 84,983,525 (GRCm39)	R122Q	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo5c	A	C	9: 75,196,423 (GRCm39)	K1290Q	probably benign	Het
Nlrp12	T	G	7: 3,281,755 (GRCm39)	Q842H	possibly damaging	Het
Oga	G	A	19: 45,755,895 (GRCm39)	Q583*	probably null	Het
Or14c44	T	C	7: 86,061,957 (GRCm39)	L129P	possibly damaging	Het
Or14j8	T	A	17: 38,263,413 (GRCm39)	R167S	probably benign	Het
Or2t1	A	T	14: 14,328,401 (GRCm38)	T97S	possibly damaging	Het
Or5d39	T	C	2: 87,979,620 (GRCm39)	T248A	possibly damaging	Het
Otoa	A	G	7: 120,729,288 (GRCm39)	T554A	probably benign	Het
Per1	A	G	11: 68,994,008 (GRCm39)	D438G	probably damaging	Het
Phactr3	G	A	2: 177,975,854 (GRCm39)	R533H	probably damaging	Het
Phykpl	T	C	11: 51,490,370 (GRCm39)	F417S	probably damaging	Het
Pole	A	T	5: 110,482,330 (GRCm39)	T2057S	probably benign	Het
Polq	A	G	16: 36,881,288 (GRCm39)	T1151A	probably benign	Het
Polr1g	T	C	7: 19,093,073 (GRCm39)	T36A	probably benign	Het
Rbm26	A	T	14: 105,389,976 (GRCm39)	V216E	possibly damaging	Het
Ryk	T	C	9: 102,775,737 (GRCm39)	I449T	probably damaging	Het
Sap25	A	G	5: 137,640,935 (GRCm39)	T225A	probably benign	Het
Sart3	A	G	5: 113,882,728 (GRCm39)	M864T	probably benign	Het
Sec31b	T	C	19: 44,517,161 (GRCm39)	S280G	probably benign	Het
Sema4d	A	T	13: 51,877,598 (GRCm39)	I78N	probably damaging	Het
Sgip1	G	C	4: 102,778,661 (GRCm39)	R419S	unknown	Het
Slc13a3	T	C	2: 165,272,210 (GRCm39)	I278V	probably benign	Het
Slc2a5	A	G	4: 150,224,439 (GRCm39)	D312G	probably benign	Het
Slc39a2	A	T	14: 52,131,660 (GRCm39)	Q77L	possibly damaging	Het
Srbd1	A	T	17: 86,443,782 (GRCm39)	V148E	probably benign	Het
Syngr2	A	G	11: 117,703,322 (GRCm39)	E46G	probably damaging	Het
Taok1	A	G	11: 77,470,643 (GRCm39)	V54A	possibly damaging	Het
Tas2r106	T	A	6: 131,655,185 (GRCm39)	H222L	probably damaging	Het
Tcaf3	A	G	6: 42,566,848 (GRCm39)	I747T	probably benign	Het
Tmem151b	G	T	17: 45,856,195 (GRCm39)	P415Q	probably benign	Het
Tmf1	T	C	6: 97,145,061 (GRCm39)	D659G	possibly damaging	Het
Tnn	G	T	1: 159,973,592 (GRCm39)	D258E	probably damaging	Het
Traj33	A	G	14: 54,422,862 (GRCm39)	I16V	unknown	Het
Ttll13	G	T	7: 79,906,772 (GRCm39)	C480F	probably damaging	Het
Ttn	T	C	2: 76,714,415 (GRCm39)	N8137S	unknown	Het
Vmn1r85	T	C	7: 12,819,073 (GRCm39)	N24D	probably damaging	Het
Wdr81	T	C	11: 75,335,525 (GRCm39)	Q649R	probably null	Het
Zan	T	C	5: 137,382,092 (GRCm39)	T5152A	unknown	Het
Zc3h6	A	G	2: 128,835,110 (GRCm39)	D82G	possibly damaging	Het

Other mutations in Adam30

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00787:Adam30	APN	3	98,069,486 (GRCm39)	missense	probably benign	0.01
IGL01630:Adam30	APN	3	98,069,171 (GRCm39)	missense	possibly damaging	0.83
IGL01825:Adam30	APN	3	98,069,217 (GRCm39)	missense	probably damaging	0.96
IGL02033:Adam30	APN	3	98,068,787 (GRCm39)	missense	probably benign	0.13
IGL03157:Adam30	APN	3	98,069,612 (GRCm39)	missense	possibly damaging	0.85
IGL03330:Adam30	APN	3	98,069,772 (GRCm39)	missense	probably damaging	1.00
R0512:Adam30	UTSW	3	98,069,441 (GRCm39)	missense	probably damaging	1.00
R1082:Adam30	UTSW	3	98,069,606 (GRCm39)	missense	probably benign	0.30
R1173:Adam30	UTSW	3	98,070,222 (GRCm39)	missense	probably benign	0.07
R1463:Adam30	UTSW	3	98,069,841 (GRCm39)	missense	probably damaging	1.00
R1771:Adam30	UTSW	3	98,068,835 (GRCm39)	missense	possibly damaging	0.94
R1862:Adam30	UTSW	3	98,069,429 (GRCm39)	nonsense	probably null
R3442:Adam30	UTSW	3	98,069,886 (GRCm39)	missense	probably benign	0.35
R4125:Adam30	UTSW	3	98,068,679 (GRCm39)	missense	probably damaging	1.00
R4714:Adam30	UTSW	3	98,070,170 (GRCm39)	missense	probably damaging	1.00
R4816:Adam30	UTSW	3	98,070,061 (GRCm39)	missense	possibly damaging	0.68
R5447:Adam30	UTSW	3	98,068,659 (GRCm39)	missense	probably benign	0.09
R5958:Adam30	UTSW	3	98,069,280 (GRCm39)	missense	probably damaging	1.00
R6175:Adam30	UTSW	3	98,070,266 (GRCm39)	missense	probably damaging	1.00
R6220:Adam30	UTSW	3	98,068,625 (GRCm39)	missense	probably damaging	0.98
R6338:Adam30	UTSW	3	98,068,857 (GRCm39)	missense	probably damaging	1.00
R6365:Adam30	UTSW	3	98,068,350 (GRCm39)	missense	probably damaging	0.99
R6998:Adam30	UTSW	3	98,070,026 (GRCm39)	missense	probably benign	0.03
R7086:Adam30	UTSW	3	98,068,635 (GRCm39)	missense	probably damaging	1.00
R7290:Adam30	UTSW	3	98,070,257 (GRCm39)	missense	probably benign	0.00
R8181:Adam30	UTSW	3	98,070,291 (GRCm39)	missense	probably benign
R8725:Adam30	UTSW	3	98,070,348 (GRCm39)	missense	possibly damaging	0.96
R8727:Adam30	UTSW	3	98,070,348 (GRCm39)	missense	possibly damaging	0.96
R8913:Adam30	UTSW	3	98,068,580 (GRCm39)	missense	possibly damaging	0.68
R8977:Adam30	UTSW	3	98,069,378 (GRCm39)	missense	probably damaging	0.98
R9008:Adam30	UTSW	3	98,070,034 (GRCm39)	nonsense	probably null
R9126:Adam30	UTSW	3	98,068,307 (GRCm39)	missense	probably benign	0.00
R9181:Adam30	UTSW	3	98,070,194 (GRCm39)	missense	probably benign	0.05
R9274:Adam30	UTSW	3	98,069,267 (GRCm39)	missense	probably benign	0.06
R9338:Adam30	UTSW	3	98,070,129 (GRCm39)	missense	probably damaging	1.00
R9636:Adam30	UTSW	3	98,068,312 (GRCm39)	missense	probably benign	0.06
R9640:Adam30	UTSW	3	98,069,620 (GRCm39)	missense	probably damaging	1.00
R9651:Adam30	UTSW	3	98,069,936 (GRCm39)	missense	possibly damaging	0.92
Z1176:Adam30	UTSW	3	98,069,676 (GRCm39)	missense	possibly damaging	0.92
Z1177:Adam30	UTSW	3	98,068,295 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGTGTCAACTGCTCCTCTG -3'
(R):5'- TGGAAATTTGGAGAGGGCTTTAAC -3'

Sequencing Primer
(F):5'- CTGGGCTTTGCTGTCATAAATGTAAC -3'
(R):5'- ACTGTAGCCTGCCACAGATTG -3'

Posted On

2019-09-13