Mutagenetix > Incidental Mutation

Incidental Mutation 'R6603:Adam18'

525458

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 #

R6603 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24602246-24674755 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24665502 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 167 (F167Y)

Ref Sequence

ENSEMBL: ENSMUSP00000033957 (fasta)

Gene Model

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

AlphaFold

Q9R157

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033957
AA Change: F167Y

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: F167Y

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: ENSMUST00000173833
AA Change: F167Y

PolyPhen 2 Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: F167Y

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.9%

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3d1	A	G	10: 80,714,047	S755P	probably benign	Het
Aph1a	A	T	3: 95,895,496	N136I	probably damaging	Het
AU040320	T	A	4: 126,792,253	N207K	probably benign	Het
Caprin1	A	T	2: 103,775,511	D377E	probably benign	Het
Col18a1	A	G	10: 77,063,977		probably null	Het
Ddi2	T	C	4: 141,683,870	N577S	probably damaging	Het
Dip2c	T	A	13: 9,654,588		probably null	Het
Dmbt1	A	T	7: 131,046,510		probably null	Het
Fam13a	T	C	6: 58,987,189	K86R	probably benign	Het
Fam168b	C	A	1: 34,836,741	G21V	probably damaging	Het
Fam208a	A	G	14: 27,446,386	Y295C	probably damaging	Het
Fam71e2	G	A	7: 4,758,432	P427L	possibly damaging	Het
Fbxl8	A	T	8: 105,268,210	D118V	probably damaging	Het
Git2	C	A	5: 114,730,991		probably null	Het
Gm17190	T	G	13: 96,082,262	D35E	possibly damaging	Het
Gnb4	C	T	3: 32,585,146	D333N	probably damaging	Het
Has2	T	A	15: 56,668,572	D249V	probably damaging	Het
Ighv1-23	A	G	12: 114,764,521	S94P	probably damaging	Het
Itpr2	A	G	6: 146,347,171	I1029T	probably damaging	Het
Kctd16	T	C	18: 40,258,491	I44T	probably benign	Het
Kpna1	A	G	16: 36,029,520		probably null	Het
Lonrf1	T	A	8: 36,222,941	R654S	probably damaging	Het
Lrrc49	A	C	9: 60,593,769		probably null	Het
Miip	T	G	4: 147,865,923	K72T	possibly damaging	Het
Mink1	C	T	11: 70,609,593	P782S	probably damaging	Het
Mpped2	A	G	2: 106,866,977	T266A	probably benign	Het
Naip1	G	A	13: 100,423,070	S1142F	probably benign	Het
Naip1	C	T	13: 100,423,158	G1113S	probably benign	Het
Nbr1	A	G	11: 101,556,105		probably benign	Het
Necab3	A	T	2: 154,554,922	N46K	probably damaging	Het
Olfr570	A	T	7: 102,900,414	I16F	probably benign	Het
Phtf1	C	T	3: 103,993,873	R360C	probably damaging	Het
Plcl2	A	G	17: 50,607,117	I385V	probably benign	Het
Prmt8	A	T	6: 127,729,413	F138L	probably benign	Het
Prpf40a	T	G	2: 53,152,963	R436S	probably damaging	Het
Rab27b	T	A	18: 69,985,304	I181F	probably damaging	Het
Rasgrf1	A	G	9: 89,910,257	E87G	probably damaging	Het
Scrib	T	A	15: 76,062,723	T674S	probably benign	Het
Slc9a4	A	G	1: 40,623,504	S644G	probably benign	Het
Slc9a9	G	A	9: 94,939,546	A329T	probably damaging	Het
Smc4	T	C	3: 69,022,461		probably null	Het
Sox7	T	A	14: 63,948,188	H224Q	probably benign	Het
Spata31	T	C	13: 64,922,665	S876P	probably damaging	Het
Syndig1	G	A	2: 150,003,288	V244M	probably damaging	Het
Tas2r113	A	T	6: 132,893,458	I150L	probably benign	Het
Tmem59l	G	A	8: 70,486,356	P56L	probably benign	Het
Tnfrsf8	A	T	4: 145,292,598	D222E	possibly damaging	Het
Trim52	T	C	14: 106,107,049	L47P	probably damaging	Het
Ttc34	T	A	4: 154,839,305	I157K	probably benign	Het
Txndc16	A	G	14: 45,151,767	F492S	probably damaging	Het
Ubr4	A	G	4: 139,455,586	I428V	probably benign	Het
Vmn2r41	T	A	7: 8,138,360	I702F	probably damaging	Het
Wdr12	T	A	1: 60,082,624	H256L	probably damaging	Het
Xirp2	A	G	2: 67,516,544	H3043R	probably benign	Het
Xrcc1	C	T	7: 24,571,034	Q500*	probably null	Het
Zfp583	T	C	7: 6,325,476	N38S	probably damaging	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
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
R7872:Adam18	UTSW	8	24611100	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'- GGCTAATCTTCCTGCATTGTTTAATGG -3'
(R):5'- GCCTTTCTACATTTAGGGGATTCC -3'

Sequencing Primer
(F):5'- ATGGTTTCCAATAACAAATGTTTCC -3'
(R):5'- TCCTGCAGTTGGAAAATGTCAGC -3'

Posted On

2018-06-22