Mutagenetix > Incidental Mutation

Incidental Mutation 'R8725:Adam30'

662331

Institutional Source

Beutler Lab

Gene Symbol

Adam30

Ensembl Gene

ENSMUSG00000043468

Gene Name

a disintegrin and metallopeptidase domain 30

Synonyms

4933424D07Rik

MMRRC Submission

068574-MU

Accession Numbers

Essential gene?

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

Stock #

R8725 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

98067950-98071485 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98070348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 727 (T727M)

Ref Sequence

ENSEMBL: ENSMUSP00000060505 (fasta)

Gene Model

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

AlphaFold

Q811Q3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050342
AA Change: T727M

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000060505
Gene: ENSMUSG00000043468
AA Change: T727M

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: 99.8%
20x: 99.5%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	C	T	16: 97,867,651 (GRCm39)	A104T	probably damaging	Het
Abhd18	T	A	3: 40,884,627 (GRCm39)	L222Q	probably damaging	Het
Adh6b	A	T	3: 138,058,729 (GRCm39)	Q137L	probably damaging	Het
Alpl	C	T	4: 137,475,127 (GRCm39)	V269I	probably benign	Het
Ang2	C	T	14: 51,432,996 (GRCm39)	G129S	probably benign	Het
Atp6v0a1	A	T	11: 100,920,015 (GRCm39)	H216L	possibly damaging	Het
BC030500	C	T	8: 59,366,049 (GRCm39)	T61I	unknown	Het
Brpf1	T	G	6: 113,293,491 (GRCm39)	L520R	probably damaging	Het
Btbd10	A	G	7: 112,927,626 (GRCm39)	I243T	possibly damaging	Het
Bub1	C	A	2: 127,646,139 (GRCm39)	C947F	probably damaging	Het
C4b	T	C	17: 34,953,459 (GRCm39)	E1008G	probably damaging	Het
Ccdc40	A	G	11: 119,155,323 (GRCm39)	T1188A	probably benign	Het
Cdcp3	A	G	7: 130,875,485 (GRCm39)	T1770A	unknown	Het
Cnn1	G	T	9: 22,010,557 (GRCm39)		probably benign	Het
Colgalt2	T	C	1: 152,360,662 (GRCm39)	M233T	probably damaging	Het
Cox15	A	T	19: 43,735,181 (GRCm39)	C195*	probably null	Het
Cped1	A	T	6: 22,059,941 (GRCm39)	R202S	possibly damaging	Het
Dact2	A	T	17: 14,417,146 (GRCm39)	C351*	probably null	Het
Dbnl	A	G	11: 5,738,582 (GRCm39)	N8S	probably benign	Het
Depdc1a	T	A	3: 159,228,356 (GRCm39)	N369K	probably benign	Het
Dnah2	A	T	11: 69,415,005 (GRCm39)	L243Q	probably damaging	Het
Dscaml1	T	A	9: 45,341,759 (GRCm39)	Y57N	probably benign	Het
Eif2b3	A	G	4: 116,927,944 (GRCm39)	T388A	probably benign	Het
Eif4h	A	C	5: 134,654,393 (GRCm39)		probably null	Het
Elf1	C	T	14: 79,810,667 (GRCm39)	Q288*	probably null	Het
Fgl2	C	T	5: 21,580,677 (GRCm39)	R340*	probably null	Het
Fut4	T	C	9: 14,662,082 (GRCm39)	D404G	probably damaging	Het
Glmn	G	A	5: 107,718,152 (GRCm39)	P255L	probably benign	Het
Gm14322	C	T	2: 177,411,481 (GRCm39)	T97I	probably benign	Het
Gm44511	C	A	6: 128,797,997 (GRCm39)	C32F	probably damaging	Het
Gm5478	A	G	15: 101,553,871 (GRCm39)	F247S	probably damaging	Het
Golgb1	T	A	16: 36,739,563 (GRCm39)	M2675K	probably damaging	Het
Hectd1	T	C	12: 51,849,000 (GRCm39)	D368G	possibly damaging	Het
Hnrnpul2	A	G	19: 8,798,064 (GRCm39)	N140S	probably benign	Het
Htr4	A	T	18: 62,561,209 (GRCm39)	I157L	probably damaging	Het
Kcnma1	T	G	14: 23,436,332 (GRCm39)	M790L	probably benign	Het
Kcnv1	G	A	15: 44,977,999 (GRCm39)	S13L	unknown	Het
Kctd20	C	T	17: 29,184,025 (GRCm39)	R312*	probably null	Het
Kdm3b	T	A	18: 34,960,435 (GRCm39)	I1340N	probably damaging	Het
Kdm6b	A	G	11: 69,292,919 (GRCm39)	F1286L	unknown	Het
Knl1	T	A	2: 118,899,524 (GRCm39)	F408L	probably benign	Het
Lypd5	G	T	7: 24,053,101 (GRCm39)	G253W	probably damaging	Het
Mea1	A	G	17: 46,992,614 (GRCm39)	T21A	probably benign	Het
Metrnl	A	G	11: 121,606,842 (GRCm39)	E299G	possibly damaging	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nbn	G	A	4: 15,963,911 (GRCm39)	S104N	probably damaging	Het
Nxpe2	A	T	9: 48,238,073 (GRCm39)	F61I	probably benign	Het
Or6c1b	T	C	10: 129,273,334 (GRCm39)	Y218H	probably benign	Het
Or6c70	T	A	10: 129,710,092 (GRCm39)	D178V	probably damaging	Het
Pgr	C	A	9: 8,901,544 (GRCm39)	P359Q	probably damaging	Het
Pi4k2b	G	A	5: 52,908,031 (GRCm39)	V157I	probably benign	Het
Plekhm1	A	C	11: 103,258,444 (GRCm39)	F1031L	probably damaging	Het
Pltp	A	G	2: 164,696,301 (GRCm39)	S124P	probably damaging	Het
Polr3gl	T	A	3: 96,487,154 (GRCm39)	E177V	probably benign	Het
Pstk	G	T	7: 130,973,024 (GRCm39)	R41L	possibly damaging	Het
Rasgrp1	T	C	2: 117,119,158 (GRCm39)	E493G	probably benign	Het
Rtn3	A	G	19: 7,434,726 (GRCm39)	L422P	probably benign	Het
Rusc2	C	T	4: 43,401,351 (GRCm39)		probably benign	Het
Sbno2	A	G	10: 79,911,090 (GRCm39)	F6S	probably benign	Het
Sh2d4a	A	G	8: 68,798,695 (GRCm39)	Y348C	probably damaging	Het
Sh3rf3	A	G	10: 58,939,992 (GRCm39)		probably null	Het
Sipa1l2	T	C	8: 126,177,125 (GRCm39)	E1163G	probably benign	Het
Strip1	G	C	3: 107,521,964 (GRCm39)	A738G	probably damaging	Het
Tdrkh	C	T	3: 94,333,299 (GRCm39)	R255C	probably benign	Het
Tln1	A	T	4: 43,555,911 (GRCm39)	M101K	possibly damaging	Het
Trav6-2	A	C	14: 52,905,028 (GRCm39)		probably benign	Het
Tspan11	A	T	6: 127,900,674 (GRCm39)	I82F	possibly damaging	Het
Ttn	T	C	2: 76,779,320 (GRCm39)	K1233E	unknown	Het
Usp29	A	T	7: 6,965,917 (GRCm39)	S587C	probably damaging	Het
Vmn1r235	A	T	17: 21,482,056 (GRCm39)	Q127L	probably damaging	Het
Vmn1r65	C	A	7: 6,011,503 (GRCm39)	A244S	probably damaging	Het
Vmn2r18	A	G	5: 151,508,462 (GRCm39)	S221P	probably damaging	Het
Zfp229	T	C	17: 21,964,828 (GRCm39)	S353P	probably damaging	Het
Zpld2	T	C	4: 133,930,150 (GRCm39)	K52E	probably benign	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
R7340:Adam30	UTSW	3	98,069,637 (GRCm39)	missense	probably benign	0.14
R8181:Adam30	UTSW	3	98,070,291 (GRCm39)	missense	probably benign
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'- CATTGCTCATATGGCTGGGAAC -3'
(R):5'- GTAGGACTTTAACATGAGCCATG -3'

Sequencing Primer
(F):5'- AACCCCCATTTTGTGTAGAGG -3'
(R):5'- GGACTTTAACATGAGCCATGAATAC -3'

Posted On

2021-03-08