Mutagenetix > Incidental Mutation

Incidental Mutation 'R7575:Adam18'

586344

Institutional Source

Beutler Lab

Gene Symbol

Adam18

Ensembl Gene

ENSMUSG00000031552

Gene Name

a disintegrin and metallopeptidase domain 18

Synonyms

Dtgn3, Adam27

MMRRC Submission

045632-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7575 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25092262-25164771 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25115873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 607 (N607S)

Ref Sequence

ENSEMBL: ENSMUSP00000033957 (fasta)

Gene Model

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

AlphaFold

Q9R157

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033957
AA Change: N607S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000033957
Gene: ENSMUSG00000031552
AA Change: N607S

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

possibly damaging
Transcript: ENSMUST00000173833
AA Change: N607S

PolyPhen 2 Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000133378
Gene: ENSMUSG00000031552
AA Change: N607S

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: 99.9%
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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	C	T	14: 32,384,589 (GRCm39)	V459I	probably benign	Het
4921539E11Rik	T	C	4: 103,088,192 (GRCm39)	D439G	probably damaging	Het
Adamtsl3	A	T	7: 82,223,756 (GRCm39)	N1179I	possibly damaging	Het
Adarb1	A	G	10: 77,139,129 (GRCm39)	F552S	probably damaging	Het
Ago1	T	C	4: 126,347,701 (GRCm39)	E394G	probably benign	Het
Alb	G	A	5: 90,613,788 (GRCm39)	C224Y	probably damaging	Het
Alms1	T	A	6: 85,599,141 (GRCm39)	H1322Q	possibly damaging	Het
Arhgef18	T	G	8: 3,501,635 (GRCm39)	V643G	probably damaging	Het
Asah2	T	C	19: 31,994,103 (GRCm39)	Q414R	probably benign	Het
Atpsckmt	C	T	15: 31,606,186 (GRCm39)	A48V	probably damaging	Het
Bbc3	G	A	7: 16,046,292 (GRCm39)	R76H	possibly damaging	Het
Bub1b	T	A	2: 118,471,639 (GRCm39)	S1000T	possibly damaging	Het
Bud23	A	T	5: 135,089,982 (GRCm39)	Y70*	probably null	Het
C1d	A	G	11: 17,212,694 (GRCm39)	E13G	probably damaging	Het
Camk1	T	A	6: 113,315,325 (GRCm39)	I158F	probably damaging	Het
Ccr2	A	C	9: 123,905,843 (GRCm39)	D41A	probably benign	Het
Cdh18	G	T	15: 23,400,683 (GRCm39)	E348*	probably null	Het
Col6a3	A	G	1: 90,738,321 (GRCm39)	L1066P	possibly damaging	Het
Cyp11b1	T	A	15: 74,711,162 (GRCm39)	D172V	probably benign	Het
Cyp2j8	A	G	4: 96,358,785 (GRCm39)	I378T	possibly damaging	Het
Cys1	T	A	12: 24,718,647 (GRCm39)	K69*	probably null	Het
Dip2c	A	G	13: 9,678,048 (GRCm39)	K1165E	probably damaging	Het
Drd3	A	T	16: 43,637,496 (GRCm39)	I232F	probably benign	Het
Dusp7	T	C	9: 106,250,876 (GRCm39)	C334R	probably damaging	Het
Eppk1	A	G	15: 75,995,442 (GRCm39)	S480P	not run	Het
Erc1	G	T	6: 119,801,721 (GRCm39)	P99T	possibly damaging	Het
Fam170b	C	T	14: 32,558,155 (GRCm39)	P330L	unknown	Het
Fasn	G	T	11: 120,703,513 (GRCm39)	T1573K	possibly damaging	Het
Fras1	A	T	5: 96,691,173 (GRCm39)	T130S	probably benign	Het
Fzd4	A	G	7: 89,056,918 (GRCm39)	I322V	possibly damaging	Het
Gbp10	G	A	5: 105,384,015 (GRCm39)		probably benign	Het
Gdpd4	A	T	7: 97,647,448 (GRCm39)	H365L	probably benign	Het
Gfy	A	G	7: 44,827,524 (GRCm39)	S191P	probably benign	Het
Ghr	A	T	15: 3,349,994 (GRCm39)	S395T	probably damaging	Het
Git2	C	T	5: 114,904,550 (GRCm39)	R123H	probably damaging	Het
Htt	A	G	5: 35,062,987 (GRCm39)	D2873G	probably damaging	Het
Idua	A	T	5: 108,829,565 (GRCm39)	D476V	probably damaging	Het
Inppl1	G	A	7: 101,477,689 (GRCm39)	R683W	probably damaging	Het
Ipp	T	C	4: 116,389,841 (GRCm39)	S466P	probably benign	Het
Iqgap2	A	G	13: 95,798,131 (GRCm39)	V1058A	probably damaging	Het
Jmy	A	T	13: 93,601,103 (GRCm39)	Y434*	probably null	Het
Kmt2d	CTGCTGCTG	CTGCTGCTGATGCTGCTG	15: 98,747,492 (GRCm39)		probably benign	Het
Mogs	T	G	6: 83,092,816 (GRCm39)	S85R	probably damaging	Het
Mroh2b	A	T	15: 4,964,087 (GRCm39)	D863V	probably damaging	Het
Mtmr10	A	T	7: 63,947,213 (GRCm39)	I43F	probably damaging	Het
Mtr	T	C	13: 12,213,963 (GRCm39)	D903G	probably benign	Het
Ncor1	A	G	11: 62,274,082 (GRCm39)	V186A	probably benign	Het
Notch3	C	T	17: 32,373,793 (GRCm39)	D472N	possibly damaging	Het
Or4k44	A	T	2: 111,368,597 (GRCm39)	F12L	probably damaging	Het
Or6c68	T	C	10: 129,157,728 (GRCm39)	F79L	probably damaging	Het
Or8j3c	A	G	2: 86,253,582 (GRCm39)	F146S	probably benign	Het
Or9i1	T	C	19: 13,839,381 (GRCm39)	S75P	probably damaging	Het
Oxr1	T	G	15: 41,686,758 (GRCm39)	L547V	possibly damaging	Het
Pappa2	A	T	1: 158,642,100 (GRCm39)	C1319S	probably damaging	Het
Papss1	A	C	3: 131,348,857 (GRCm39)	K623N	probably damaging	Het
Parp4	T	C	14: 56,875,375 (GRCm39)	F1198S	probably benign	Het
Pcare	T	A	17: 72,057,850 (GRCm39)	Q609L	probably damaging	Het
Pcnt	A	T	10: 76,225,086 (GRCm39)	V1806D	probably benign	Het
Pitx2	A	T	3: 129,009,375 (GRCm39)	H98L	probably damaging	Het
Polq	C	A	16: 36,911,496 (GRCm39)	D2410E	probably benign	Het
Prdm9	C	T	17: 15,764,890 (GRCm39)	C630Y	probably damaging	Het
Preb	A	T	5: 31,115,839 (GRCm39)	D201E	probably damaging	Het
Rasa3	A	T	8: 13,645,887 (GRCm39)	I151N	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,397 (GRCm39)	S147T	probably damaging	Het
Rev3l	A	G	10: 39,697,441 (GRCm39)	D646G	possibly damaging	Het
Sdc1	A	G	12: 8,840,619 (GRCm39)	E128G	probably damaging	Het
Slamf7	A	C	1: 171,466,762 (GRCm39)	C148G	probably damaging	Het
Slc19a2	T	C	1: 164,084,691 (GRCm39)	S194P	probably damaging	Het
Spata31	C	T	13: 65,070,726 (GRCm39)	P958L	unknown	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,224,826 (GRCm39)		probably benign	Het
Stradb	A	G	1: 59,027,739 (GRCm39)	I90V	probably benign	Het
Tas2r134	A	G	2: 51,518,166 (GRCm39)	D215G	probably damaging	Het
Tbc1d4	T	C	14: 101,685,025 (GRCm39)	K1209E	probably damaging	Het
Thbs1	A	G	2: 117,953,409 (GRCm39)	D942G	probably damaging	Het
Tmem107	C	T	11: 68,963,633 (GRCm39)	P139S	probably benign	Het
Tmem216	A	T	19: 10,529,266 (GRCm39)	M40K	probably benign	Het
Tpte	A	G	8: 22,845,498 (GRCm39)	Y516C	probably damaging	Het
Trim54	G	A	5: 31,291,431 (GRCm39)	G184D	possibly damaging	Het
Try5	A	T	6: 41,288,748 (GRCm39)	L157Q	probably benign	Het
Ubqlnl	G	A	7: 103,797,697 (GRCm39)	A600V	probably damaging	Het
Uhrf2	C	A	19: 30,048,768 (GRCm39)	P258Q	probably damaging	Het
Ush2a	A	T	1: 188,554,885 (GRCm39)	E3554D	possibly damaging	Het
Usp40	A	C	1: 87,877,682 (GRCm39)	L1158W	probably damaging	Het
Vmn1r121	T	A	7: 20,832,198 (GRCm39)	R81*	probably null	Het
Vmn1r203	C	A	13: 22,708,588 (GRCm39)	T123K	probably benign	Het
Vmn2r101	T	C	17: 19,831,654 (GRCm39)	V550A	probably benign	Het
Wdr49	A	T	3: 75,358,193 (GRCm39)	M184K	probably damaging	Het
Wipi2	A	G	5: 142,643,987 (GRCm39)	N123S	probably damaging	Het
Zbtb14	T	C	17: 69,694,442 (GRCm39)	F47L	probably damaging	Het
Zc3h7b	C	A	15: 81,662,086 (GRCm39)	S385*	probably null	Het
Zhx2	T	A	15: 57,686,658 (GRCm39)	F676I	probably damaging	Het

Other mutations in Adam18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:Adam18	APN	8	25,118,149 (GRCm39)	missense	probably damaging	1.00
IGL01649:Adam18	APN	8	25,104,912 (GRCm39)	missense	possibly damaging	0.82
IGL02212:Adam18	APN	8	25,127,195 (GRCm39)	missense	probably benign	0.02
IGL02455:Adam18	APN	8	25,141,864 (GRCm39)	missense	probably damaging	0.96
IGL02525:Adam18	APN	8	25,131,783 (GRCm39)	splice site	probably benign
IGL02525:Adam18	APN	8	25,101,060 (GRCm39)	missense	probably benign	0.00
IGL02966:Adam18	APN	8	25,101,165 (GRCm39)	splice site	probably benign
IGL03136:Adam18	APN	8	25,131,852 (GRCm39)	missense	probably damaging	1.00
G5030:Adam18	UTSW	8	25,141,872 (GRCm39)	missense	probably benign	0.24
R0135:Adam18	UTSW	8	25,155,558 (GRCm39)	missense	possibly damaging	0.71
R0280:Adam18	UTSW	8	25,164,070 (GRCm39)	missense	probably benign	0.06
R0389:Adam18	UTSW	8	25,119,653 (GRCm39)	splice site	probably null
R0390:Adam18	UTSW	8	25,164,070 (GRCm39)	missense	probably benign	0.06
R0443:Adam18	UTSW	8	25,119,653 (GRCm39)	splice site	probably null
R0479:Adam18	UTSW	8	25,141,838 (GRCm39)	missense	probably benign
R0578:Adam18	UTSW	8	25,131,863 (GRCm39)	missense	possibly damaging	0.82
R0645:Adam18	UTSW	8	25,162,136 (GRCm39)	nonsense	probably null
R0881:Adam18	UTSW	8	25,162,159 (GRCm39)	splice site	probably benign
R0885:Adam18	UTSW	8	25,141,802 (GRCm39)	missense	probably damaging	1.00
R0973:Adam18	UTSW	8	25,137,869 (GRCm39)	missense	probably benign	0.01
R0973:Adam18	UTSW	8	25,137,869 (GRCm39)	missense	probably benign	0.01
R0974:Adam18	UTSW	8	25,137,869 (GRCm39)	missense	probably benign	0.01
R1005:Adam18	UTSW	8	25,155,530 (GRCm39)	missense	probably benign	0.05
R1356:Adam18	UTSW	8	25,158,611 (GRCm39)	splice site	probably benign
R1510:Adam18	UTSW	8	25,115,847 (GRCm39)	missense	probably benign	0.01
R1552:Adam18	UTSW	8	25,136,377 (GRCm39)	missense	probably benign
R1568:Adam18	UTSW	8	25,137,799 (GRCm39)	splice site	probably null
R1639:Adam18	UTSW	8	25,142,168 (GRCm39)	missense	probably benign	0.00
R1968:Adam18	UTSW	8	25,136,463 (GRCm39)	missense	probably benign	0.32
R2029:Adam18	UTSW	8	25,140,893 (GRCm39)	missense	probably damaging	1.00
R2058:Adam18	UTSW	8	25,162,082 (GRCm39)	splice site	probably benign
R2211:Adam18	UTSW	8	25,118,171 (GRCm39)	missense	probably damaging	0.96
R2237:Adam18	UTSW	8	25,136,303 (GRCm39)	missense	probably benign	0.01
R2238:Adam18	UTSW	8	25,136,303 (GRCm39)	missense	probably benign	0.01
R2239:Adam18	UTSW	8	25,136,303 (GRCm39)	missense	probably benign	0.01
R2518:Adam18	UTSW	8	25,127,157 (GRCm39)	missense	probably damaging	1.00
R3122:Adam18	UTSW	8	25,118,248 (GRCm39)	missense	possibly damaging	0.74
R3426:Adam18	UTSW	8	25,157,620 (GRCm39)	missense	probably damaging	1.00
R3428:Adam18	UTSW	8	25,157,620 (GRCm39)	missense	probably damaging	1.00
R3967:Adam18	UTSW	8	25,119,726 (GRCm39)	missense	probably benign	0.12
R4833:Adam18	UTSW	8	25,164,117 (GRCm39)	missense	probably benign	0.01
R4965:Adam18	UTSW	8	25,131,827 (GRCm39)	missense	probably damaging	1.00
R5249:Adam18	UTSW	8	25,115,868 (GRCm39)	missense	probably benign	0.00
R5534:Adam18	UTSW	8	25,155,530 (GRCm39)	missense	probably benign	0.05
R5920:Adam18	UTSW	8	25,164,091 (GRCm39)	missense	probably damaging	1.00
R6329:Adam18	UTSW	8	25,104,843 (GRCm39)	missense	probably damaging	1.00
R6450:Adam18	UTSW	8	25,119,691 (GRCm39)	missense	probably benign	0.05
R6479:Adam18	UTSW	8	25,119,681 (GRCm39)	missense	probably benign	0.29
R6516:Adam18	UTSW	8	25,164,703 (GRCm39)	missense	probably damaging	1.00
R6603:Adam18	UTSW	8	25,155,518 (GRCm39)	missense	possibly damaging	0.63
R7194:Adam18	UTSW	8	25,141,868 (GRCm39)	missense	possibly damaging	0.67
R7226:Adam18	UTSW	8	25,137,824 (GRCm39)	missense	probably damaging	1.00
R7266:Adam18	UTSW	8	25,157,639 (GRCm39)	missense	probably benign	0.00
R7397:Adam18	UTSW	8	25,136,321 (GRCm39)	missense	possibly damaging	0.48
R7786:Adam18	UTSW	8	25,101,134 (GRCm39)	missense	probably benign	0.00
R7872:Adam18	UTSW	8	25,101,116 (GRCm39)	missense	probably benign	0.00
R8069:Adam18	UTSW	8	25,118,246 (GRCm39)	missense	possibly damaging	0.96
R8411:Adam18	UTSW	8	25,142,143 (GRCm39)	missense	probably damaging	1.00
R8713:Adam18	UTSW	8	25,142,189 (GRCm39)	missense	probably benign	0.22
R8785:Adam18	UTSW	8	25,140,911 (GRCm39)	missense	probably damaging	0.97
R8803:Adam18	UTSW	8	25,137,878 (GRCm39)	missense	probably benign	0.02
R8882:Adam18	UTSW	8	25,136,438 (GRCm39)	missense	probably benign	0.25
R8944:Adam18	UTSW	8	25,164,703 (GRCm39)	missense	probably damaging	1.00
R9000:Adam18	UTSW	8	25,127,162 (GRCm39)	missense	probably benign	0.27
R9184:Adam18	UTSW	8	25,137,847 (GRCm39)	missense	probably benign	0.22
R9258:Adam18	UTSW	8	25,158,574 (GRCm39)	missense	probably benign	0.05
R9306:Adam18	UTSW	8	25,136,420 (GRCm39)	missense	possibly damaging	0.74
R9377:Adam18	UTSW	8	25,104,859 (GRCm39)	nonsense	probably null
R9472:Adam18	UTSW	8	25,127,248 (GRCm39)	missense	probably benign	0.04
R9476:Adam18	UTSW	8	25,115,807 (GRCm39)	missense	probably benign	0.18
R9508:Adam18	UTSW	8	25,143,778 (GRCm39)	missense	possibly damaging	0.88
R9567:Adam18	UTSW	8	25,118,210 (GRCm39)	missense	probably benign	0.25
R9603:Adam18	UTSW	8	25,118,147 (GRCm39)	missense	possibly damaging	0.48

Predicted Primers

PCR Primer
(F):5'- AGCATCAGAGTAGCTCACTTG -3'
(R):5'- TGTGATCTCCATCAGCTCTGAAC -3'

Sequencing Primer
(F):5'- CATCAGAGTAGCTCACTTGGTTTG -3'
(R):5'- GCTCTGAACAAACACTGCTATTG -3'

Posted On

2019-10-24