Mutagenetix > Incidental Mutation

Incidental Mutation 'R7872:Adam18'

608185

Institutional Source

Beutler Lab

Gene Symbol

Adam18

Ensembl Gene

ENSMUSG00000031552

Gene Name

a disintegrin and metallopeptidase domain 18

Synonyms

Adam27, Dtgn3

MMRRC Submission

Accession Numbers

Genbank: NM_010084

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7872 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24602246-24674755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24611100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 682 (D682G)

Ref Sequence

ENSEMBL: ENSMUSP00000033957 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033957] [ENSMUST00000138232] [ENSMUST00000173833]

AlphaFold

Q9R157

Predicted Effect

probably benign
Transcript: ENSMUST00000033957
AA Change: D682G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: D682G

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	15	140	1.7e-25	PFAM
Pfam:Reprolysin	180	377	1.1e-57	PFAM
DISIN	396	474	1.03e-35	SMART
ACR	475	613	1.12e-51	SMART
transmembrane domain	684	703	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138232

Predicted Effect

probably benign
Transcript: ENSMUST00000173833

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552

Domain	Start	End	E-Value	Type
Pfam:Pep_M12B_propep	15	140	9.5e-35	PFAM
Pfam:Reprolysin	180	378	7.7e-56	PFAM
DISIN	396	474	1.03e-35	SMART
ACR	475	613	1.12e-51	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is expressed in a regulated fashion during early stages of spermatogenesis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. This gene is located in a cluster of related ADAM genes on chromosome 8. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit enhanced motor coordination during inverted screen testing when compared with that of controls. [provided by MGI curators]

Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	C	T	19: 34,243,439	D290N	probably damaging	Het
Ankrd46	A	G	15: 36,485,843	V88A	possibly damaging	Het
Ankub1	T	A	3: 57,665,386	K305I	probably damaging	Het
Atrn	T	A	2: 130,970,227		probably null	Het
Bambi	A	T	18: 3,511,406	T76S	probably benign	Het
Cacna1a	T	A	8: 84,583,654	V1447E	probably damaging	Het
Calcoco2	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC	11: 96,099,982		probably benign	Het
Clcn2	A	G	16: 20,708,460	M629T	probably damaging	Het
Clcn4	T	C	7: 7,287,781	N673S	probably benign	Het
Col20a1	T	C	2: 180,986,578	F15S	probably benign	Het
Col2a1	G	A	15: 98,000,577	Q39*	probably null	Het
Creb3	A	G	4: 43,563,332	E119G	probably benign	Het
Dnah5	A	C	15: 28,245,684	D556A	probably damaging	Het
Edar	C	T	10: 58,610,526	M192I	possibly damaging	Het
Fam91a1	A	G	15: 58,448,360	M634V	probably benign	Het
Fbxo10	C	T	4: 45,051,699	V471I	not run	Het
Fer1l5	T	C	1: 36,421,886	F2032L	probably benign	Het
Gm5150	A	C	3: 16,006,321	M1R	probably null	Het
Grin1	T	C	2: 25,298,190	E509G	probably benign	Het
Igkv10-94	C	T	6: 68,704,929		probably benign	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Ints8	A	T	4: 11,254,062	C17S	probably benign	Het
Kcnmb1	T	C	11: 33,966,275	Y74H	probably damaging	Het
Kpna1	T	C	16: 36,023,195	V313A	probably benign	Het
Lrp4	C	T	2: 91,490,716	T1029I	possibly damaging	Het
Lrrc7	A	T	3: 158,353,462	C3S	probably damaging	Het
Lyst	C	A	13: 13,635,865	H707N	probably benign	Het
Map3k20	A	G	2: 72,371,754	K148R	probably damaging	Het
Mcidas	G	A	13: 112,998,987	G315S	probably damaging	Het
Miip	C	T	4: 147,862,918	G236S	probably benign	Het
Mocs1	T	A	17: 49,439,533	I177N	probably damaging	Het
Muc5b	A	G	7: 141,846,113	D441G	unknown	Het
Ncoa1	T	C	12: 4,278,186	N884S	probably benign	Het
Olfr33	A	G	7: 102,714,182	V77A	probably benign	Het
Olfr533	A	G	7: 140,466,783	N194S	probably damaging	Het
Padi6	A	T	4: 140,727,762	F621L	probably damaging	Het
Pde8b	C	A	13: 95,086,839	M197I	possibly damaging	Het
Pear1	T	A	3: 87,752,215	I771L	probably benign	Het
Poli	A	G	18: 70,522,820	L281P	probably damaging	Het
Prdm12	T	C	2: 31,640,219	W41R	probably damaging	Het
Prkdc	T	G	16: 15,715,006	S1500A	probably benign	Het
Prune2	T	A	19: 17,119,434	H767Q	probably benign	Het
Rasgef1b	G	A	5: 99,234,544	Q196*	probably null	Het
Rnpc3	A	T	3: 113,622,447	L121*	probably null	Het
Rpp14	A	G	14: 8,083,724	M1V	probably null	Het
Ryr2	T	A	13: 11,595,724	D4072V	probably damaging	Het
Sgms1	T	C	19: 32,125,365	H314R	probably damaging	Het
Six4	CT	C	12: 73,104,239		probably benign	Het
Slc37a3	A	T	6: 39,347,310	Y335N	probably damaging	Het
Tcp11l1	A	T	2: 104,706,492	H9Q	probably benign	Het
Tnrc6a	T	A	7: 123,179,834	M1256K	probably damaging	Het
Trpc6	A	G	9: 8,609,909	N126S	probably damaging	Het
Ubr4	T	C	4: 139,393,062	F266S	possibly damaging	Het
Uimc1	A	G	13: 55,069,737	V424A	possibly damaging	Het
Utrn	T	C	10: 12,698,129	I1066V	probably benign	Het
Vmn1r204	A	G	13: 22,556,234	T12A	probably benign	Het
Vmn1r57	T	A	7: 5,220,614	I46N	possibly damaging	Het
Vmn1r91	T	C	7: 20,101,914	Y253H	probably benign	Het
Vmn2r14	T	A	5: 109,221,353	H118L	probably benign	Het
Zcchc11	T	G	4: 108,517,518	C933G	probably damaging	Het
Zfp775	A	G	6: 48,620,470	K426R	probably benign	Het

Other mutations in Adam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Adam18	APN	8	24628133	missense	probably damaging	1.00
IGL01649:Adam18	APN	8	24614896	missense	possibly damaging	0.82
IGL02212:Adam18	APN	8	24637179	missense	probably benign	0.02
IGL02455:Adam18	APN	8	24651848	missense	probably damaging	0.96
IGL02525:Adam18	APN	8	24611044	missense	probably benign	0.00
IGL02525:Adam18	APN	8	24641767	splice site	probably benign
IGL02966:Adam18	APN	8	24611149	splice site	probably benign
IGL03136:Adam18	APN	8	24641836	missense	probably damaging	1.00
G5030:Adam18	UTSW	8	24651856	missense	probably benign	0.24
R0135:Adam18	UTSW	8	24665542	missense	possibly damaging	0.71
R0280:Adam18	UTSW	8	24674054	missense	probably benign	0.06
R0389:Adam18	UTSW	8	24629637	splice site	probably null
R0390:Adam18	UTSW	8	24674054	missense	probably benign	0.06
R0443:Adam18	UTSW	8	24629637	splice site	probably null
R0479:Adam18	UTSW	8	24651822	missense	probably benign
R0578:Adam18	UTSW	8	24641847	missense	possibly damaging	0.82
R0645:Adam18	UTSW	8	24672120	nonsense	probably null
R0881:Adam18	UTSW	8	24672143	splice site	probably benign
R0885:Adam18	UTSW	8	24651786	missense	probably damaging	1.00
R0973:Adam18	UTSW	8	24647853	missense	probably benign	0.01
R0973:Adam18	UTSW	8	24647853	missense	probably benign	0.01
R0974:Adam18	UTSW	8	24647853	missense	probably benign	0.01
R1005:Adam18	UTSW	8	24665514	missense	probably benign	0.05
R1356:Adam18	UTSW	8	24668595	splice site	probably benign
R1510:Adam18	UTSW	8	24625831	missense	probably benign	0.01
R1552:Adam18	UTSW	8	24646361	missense	probably benign
R1568:Adam18	UTSW	8	24647783	splice site	probably null
R1639:Adam18	UTSW	8	24652152	missense	probably benign	0.00
R1968:Adam18	UTSW	8	24646447	missense	probably benign	0.32
R2029:Adam18	UTSW	8	24650877	missense	probably damaging	1.00
R2058:Adam18	UTSW	8	24672066	splice site	probably benign
R2211:Adam18	UTSW	8	24628155	missense	probably damaging	0.96
R2237:Adam18	UTSW	8	24646287	missense	probably benign	0.01
R2238:Adam18	UTSW	8	24646287	missense	probably benign	0.01
R2239:Adam18	UTSW	8	24646287	missense	probably benign	0.01
R2518:Adam18	UTSW	8	24637141	missense	probably damaging	1.00
R3122:Adam18	UTSW	8	24628232	missense	possibly damaging	0.74
R3426:Adam18	UTSW	8	24667604	missense	probably damaging	1.00
R3428:Adam18	UTSW	8	24667604	missense	probably damaging	1.00
R3967:Adam18	UTSW	8	24629710	missense	probably benign	0.12
R4833:Adam18	UTSW	8	24674101	missense	probably benign	0.01
R4965:Adam18	UTSW	8	24641811	missense	probably damaging	1.00
R5249:Adam18	UTSW	8	24625852	missense	probably benign	0.00
R5534:Adam18	UTSW	8	24665514	missense	probably benign	0.05
R5920:Adam18	UTSW	8	24674075	missense	probably damaging	1.00
R6329:Adam18	UTSW	8	24614827	missense	probably damaging	1.00
R6450:Adam18	UTSW	8	24629675	missense	probably benign	0.05
R6479:Adam18	UTSW	8	24629665	missense	probably benign	0.29
R6516:Adam18	UTSW	8	24674687	missense	probably damaging	1.00
R6603:Adam18	UTSW	8	24665502	missense	possibly damaging	0.63
R7194:Adam18	UTSW	8	24651852	missense	possibly damaging	0.67
R7226:Adam18	UTSW	8	24647808	missense	probably damaging	1.00
R7266:Adam18	UTSW	8	24667623	missense	probably benign	0.00
R7397:Adam18	UTSW	8	24646305	missense	possibly damaging	0.48
R7575:Adam18	UTSW	8	24625857	missense	possibly damaging	0.50
R7786:Adam18	UTSW	8	24611118	missense	probably benign	0.00
R8069:Adam18	UTSW	8	24628230	missense	possibly damaging	0.96
R8411:Adam18	UTSW	8	24652127	missense	probably damaging	1.00
R8713:Adam18	UTSW	8	24652173	missense	probably benign	0.22
R8785:Adam18	UTSW	8	24650895	missense	probably damaging	0.97
R8803:Adam18	UTSW	8	24647862	missense	probably benign	0.02
R8882:Adam18	UTSW	8	24646422	missense	probably benign	0.25
R8944:Adam18	UTSW	8	24674687	missense	probably damaging	1.00
R9000:Adam18	UTSW	8	24637146	missense	probably benign	0.27
R9184:Adam18	UTSW	8	24647831	missense	probably benign	0.22
R9258:Adam18	UTSW	8	24668558	missense	probably benign	0.05
R9306:Adam18	UTSW	8	24646404	missense	possibly damaging	0.74
R9377:Adam18	UTSW	8	24614843	nonsense	probably null
R9472:Adam18	UTSW	8	24637232	missense	probably benign	0.04
R9476:Adam18	UTSW	8	24625791	missense	probably benign	0.18
R9508:Adam18	UTSW	8	24653762	missense	possibly damaging	0.88
R9567:Adam18	UTSW	8	24628194	missense	probably benign	0.25
R9603:Adam18	UTSW	8	24628131	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- ACAAAGCTACTGAAGGCGC -3'
(R):5'- TTCATTCCAAGCAAGTATACAGCAC -3'

Sequencing Primer
(F):5'- GCAAGTCCGTTAACCCAGTGAG -3'
(R):5'- TAAATATGTAGAAAGCATCAATGGGG -3'

Posted On

2019-12-20