Mutagenetix > Incidental Mutation

Incidental Mutation 'R4077:Adam33'

316600

Institutional Source

Beutler Lab

Gene Symbol

Adam33

Ensembl Gene

ENSMUSG00000027318

Gene Name

a disintegrin and metallopeptidase domain 33

Synonyms

MMRRC Submission

041622-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4077 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130892739-130905734 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 130905444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139344 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052104] [ENSMUST00000110232] [ENSMUST00000183552]

AlphaFold

Q923W9

Predicted Effect

probably benign
Transcript: ENSMUST00000052104

SMART Domains

Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:Pep_M12B_propep	38	168	1.9e-28	PFAM
Pfam:Reprolysin_5	209	390	6.9e-21	PFAM
Pfam:Reprolysin_4	209	401	3.5e-9	PFAM
Pfam:Reprolysin	211	410	1.9e-60	PFAM
Pfam:Reprolysin_2	232	400	3e-14	PFAM
Pfam:Reprolysin_3	235	357	1.2e-16	PFAM
DISIN	427	502	8.4e-42	SMART
ACR	503	647	6.8e-51	SMART
transmembrane domain	677	699	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110232

SMART Domains

Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Pep_M12B_propep	36	168	1.3e-24	PFAM
Pfam:Reprolysin_5	209	390	8.5e-23	PFAM
Pfam:Reprolysin_4	209	401	4.2e-11	PFAM
Pfam:Reprolysin	211	410	4e-63	PFAM
Pfam:Reprolysin_2	231	400	7.3e-17	PFAM
Pfam:Reprolysin_3	235	357	2.2e-20	PFAM
DISIN	427	502	1.66e-39	SMART
ACR	503	646	7.59e-54	SMART
EGF	653	682	1.53e-1	SMART
transmembrane domain	703	725	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132436

Predicted Effect

probably benign
Transcript: ENSMUST00000147333

SMART Domains

Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
low complexity region	74	92	N/A	INTRINSIC
low complexity region	138	150	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000183552

SMART Domains

Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
Pfam:Pep_M12B_propep	38	168	2.4e-30	PFAM
Pfam:Reprolysin_5	209	390	8.2e-23	PFAM
Pfam:Reprolysin_4	209	401	4.2e-11	PFAM
Pfam:Reprolysin	211	410	2.4e-62	PFAM
Pfam:Reprolysin_2	232	400	2.8e-16	PFAM
Pfam:Reprolysin_3	235	357	1.5e-18	PFAM
DISIN	427	502	1.66e-39	SMART
ACR	503	646	7.59e-54	SMART
EGF	653	682	1.53e-1	SMART
transmembrane domain	703	725	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (81/82)

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 widely expressed, most highly in the adult brain, heart, kidney, lung and testis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for a targeted gene deletion are viable, fertile, developmentally normal and display normal allergen-induced airway hyperreactivity, IgE production, mucus metaplasia, and airway inflammation in an OVA-induced model of allergic asthma. [provided by MGI curators]

Allele List at MGI

All alleles(6) : Targeted, knock-out(2) Targeted, other(4)

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	A	2: 150,690,379 (GRCm39)		probably null	Het
Adrm1b	A	C	3: 92,336,195 (GRCm39)		probably benign	Het
Akap8	C	T	17: 32,531,272 (GRCm39)	R380Q	probably damaging	Het
Arhgef12	T	C	9: 42,886,588 (GRCm39)	M1131V	probably damaging	Het
Atrn	T	C	2: 130,806,850 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,963,879 (GRCm39)	T817A	probably benign	Het
C3	C	T	17: 57,512,303 (GRCm39)	D1542N	possibly damaging	Het
Cadm3	A	G	1: 173,169,236 (GRCm39)	V293A	probably benign	Het
Cdk11b	C	T	4: 155,724,204 (GRCm39)		probably benign	Het
Cdnf	A	G	2: 3,522,060 (GRCm39)	Y84C	probably damaging	Het
Chdh	T	C	14: 29,757,297 (GRCm39)	S407P	probably damaging	Het
Cmtr1	C	A	17: 29,904,949 (GRCm39)	T300K	probably damaging	Het
Dennd2d	A	T	3: 106,389,939 (GRCm39)		probably benign	Het
Diaph1	T	A	18: 37,986,636 (GRCm39)	E1116D	possibly damaging	Het
Eif1ad3	A	G	12: 87,843,401 (GRCm39)	K16R	unknown	Het
Eif1ad3	A	T	12: 87,843,710 (GRCm39)	D119V	possibly damaging	Het
Enpp1	A	G	10: 24,544,905 (GRCm39)		probably null	Het
Erbb4	T	C	1: 68,079,496 (GRCm39)	T1195A	probably benign	Het
Ermard	T	A	17: 15,273,638 (GRCm39)	S408T	probably benign	Het
Etl4	A	T	2: 20,812,772 (GRCm39)	R1442S	probably damaging	Het
F13b	T	A	1: 139,429,508 (GRCm39)	F9I	unknown	Het
Fnbp4	C	T	2: 90,588,821 (GRCm39)	R531*	probably null	Het
Gdf6	A	G	4: 9,844,776 (GRCm39)	Y100C	probably damaging	Het
Gpr3	T	C	4: 132,938,226 (GRCm39)	T149A	probably damaging	Het
Grm8	T	C	6: 27,760,208 (GRCm39)	H374R	probably benign	Het
Hbs1l	T	C	10: 21,228,501 (GRCm39)	V493A	probably damaging	Het
Hgs	A	G	11: 120,368,202 (GRCm39)	K277E	probably damaging	Het
Hnrnpul1	C	T	7: 25,426,300 (GRCm39)	R517Q	probably damaging	Het
Hoxa11	A	T	6: 52,222,504 (GRCm39)	Y66N	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igdcc4	T	A	9: 65,039,047 (GRCm39)	L944Q	probably damaging	Het
Ighv3-1	C	A	12: 113,928,107 (GRCm39)	S84I	probably damaging	Het
Iqgap2	T	C	13: 95,794,375 (GRCm39)	D1199G	probably damaging	Het
Kcnk10	A	T	12: 98,401,205 (GRCm39)	M490K	probably benign	Het
Kirrel1	A	G	3: 86,992,387 (GRCm39)		probably null	Het
Lias	A	T	5: 65,552,768 (GRCm39)	T124S	probably benign	Het
Lrig3	A	C	10: 125,845,656 (GRCm39)	E695A	probably damaging	Het
Lrpap1	A	G	5: 35,253,381 (GRCm39)	I261T	possibly damaging	Het
Lrrc37a	T	A	11: 103,388,808 (GRCm39)	T2206S	unknown	Het
Macf1	T	A	4: 123,365,884 (GRCm39)	Q2959L	probably benign	Het
Mis12	A	G	11: 70,916,134 (GRCm39)	T56A	probably benign	Het
Or10ag56	T	A	2: 87,139,208 (GRCm39)	M25K	probably null	Het
Or1l4	T	A	2: 37,092,024 (GRCm39)	I257N	possibly damaging	Het
Or4k41	A	G	2: 111,279,848 (GRCm39)	D121G	probably damaging	Het
Or5b99	T	C	19: 12,977,235 (GRCm39)	V295A	probably damaging	Het
Otof	A	T	5: 30,576,850 (GRCm39)	L134Q	possibly damaging	Het
Pds5b	T	A	5: 150,717,824 (GRCm39)	V1155E	possibly damaging	Het
Pdss2	A	T	10: 43,278,518 (GRCm39)	M342L	probably benign	Het
Phyhipl	C	T	10: 70,404,903 (GRCm39)	V57I	probably damaging	Het
Plekha5	T	A	6: 140,501,647 (GRCm39)		probably null	Het
Pnck	A	T	X: 72,701,761 (GRCm39)	V93E	probably damaging	Het
Proser1	A	G	3: 53,385,962 (GRCm39)	T615A	probably damaging	Het
Ptprk	G	A	10: 28,139,508 (GRCm39)	V78I	probably benign	Het
Ptprv	A	G	1: 135,038,168 (GRCm39)		noncoding transcript	Het
Ranbp3l	A	G	15: 9,060,838 (GRCm39)	N233S	probably damaging	Het
Rassf2	G	A	2: 131,854,522 (GRCm39)	P7S	probably benign	Het
Sart1	A	T	19: 5,432,771 (GRCm39)	L521Q	possibly damaging	Het
Scgb1b21	T	A	7: 33,227,118 (GRCm39)		noncoding transcript	Het
Scyl2	A	T	10: 89,476,458 (GRCm39)	M889K	probably benign	Het
Secisbp2l	A	G	2: 125,593,785 (GRCm39)		probably benign	Het
Svil	A	G	18: 5,063,522 (GRCm39)	E931G	probably benign	Het
Syce1	C	A	7: 140,359,809 (GRCm39)	L83F	probably damaging	Het
Tdrd1	A	G	19: 56,819,505 (GRCm39)	M2V	probably benign	Het
Tjp2	A	T	19: 24,086,182 (GRCm39)	V780E	possibly damaging	Het
Tram1	A	G	1: 13,636,599 (GRCm39)	V358A	probably benign	Het
Unc13c	C	T	9: 73,643,821 (GRCm39)	W1214*	probably null	Het
Vps13b	T	C	15: 35,455,274 (GRCm39)	C728R	probably damaging	Het
Wwox	A	G	8: 115,166,481 (GRCm39)		probably benign	Het
Zbtb41	G	A	1: 139,357,064 (GRCm39)	V440I	probably benign	Het
Zfp777	T	C	6: 48,002,456 (GRCm39)	S589G	probably benign	Het
Zfp955a	A	G	17: 33,460,675 (GRCm39)	Y486H	probably benign	Het

Other mutations in Adam33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Adam33	APN	2	130,896,183 (GRCm39)	splice site	probably benign
IGL01586:Adam33	APN	2	130,895,970 (GRCm39)	missense	probably damaging	1.00
IGL02156:Adam33	APN	2	130,895,078 (GRCm39)	splice site	probably benign
IGL02498:Adam33	APN	2	130,895,157 (GRCm39)	missense	probably damaging	1.00
3-1:Adam33	UTSW	2	130,896,041 (GRCm39)	splice site	probably null
R0012:Adam33	UTSW	2	130,894,840 (GRCm39)	missense	probably damaging	1.00
R0471:Adam33	UTSW	2	130,896,399 (GRCm39)	missense	probably damaging	0.99
R1401:Adam33	UTSW	2	130,893,391 (GRCm39)	unclassified	probably benign
R2071:Adam33	UTSW	2	130,897,266 (GRCm39)	missense	probably benign	0.01
R2095:Adam33	UTSW	2	130,895,629 (GRCm39)	missense	probably damaging	1.00
R2383:Adam33	UTSW	2	130,893,282 (GRCm39)	missense	probably benign	0.01
R4403:Adam33	UTSW	2	130,895,190 (GRCm39)	missense	probably benign	0.03
R4821:Adam33	UTSW	2	130,903,115 (GRCm39)	missense	probably benign	0.03
R5110:Adam33	UTSW	2	130,895,690 (GRCm39)	missense	probably damaging	1.00
R5150:Adam33	UTSW	2	130,895,117 (GRCm39)	intron	probably benign
R5364:Adam33	UTSW	2	130,896,392 (GRCm39)	critical splice donor site	probably null
R5632:Adam33	UTSW	2	130,895,362 (GRCm39)	missense	probably damaging	1.00
R5818:Adam33	UTSW	2	130,896,278 (GRCm39)	missense	possibly damaging	0.51
R6226:Adam33	UTSW	2	130,897,530 (GRCm39)	missense	probably damaging	1.00
R6478:Adam33	UTSW	2	130,893,266 (GRCm39)	missense	probably benign	0.01
R6755:Adam33	UTSW	2	130,895,069 (GRCm39)	missense	probably damaging	1.00
R7230:Adam33	UTSW	2	130,895,483 (GRCm39)	missense	probably damaging	1.00
R7322:Adam33	UTSW	2	130,895,614 (GRCm39)	missense	probably damaging	1.00
R7395:Adam33	UTSW	2	130,903,089 (GRCm39)	missense	probably benign	0.00
R7650:Adam33	UTSW	2	130,903,067 (GRCm39)	missense	probably damaging	1.00
R7783:Adam33	UTSW	2	130,900,257 (GRCm39)	missense	unknown
R7809:Adam33	UTSW	2	130,893,266 (GRCm39)	missense	probably benign
R7932:Adam33	UTSW	2	130,905,617 (GRCm39)	unclassified	probably benign
R8210:Adam33	UTSW	2	130,898,250 (GRCm39)	missense	probably benign
R8969:Adam33	UTSW	2	130,894,994 (GRCm39)	missense	probably damaging	1.00
R9102:Adam33	UTSW	2	130,897,737 (GRCm39)	missense	probably benign	0.01
R9449:Adam33	UTSW	2	130,895,606 (GRCm39)	missense	possibly damaging	0.47
R9650:Adam33	UTSW	2	130,894,989 (GRCm39)	missense	possibly damaging	0.48
R9720:Adam33	UTSW	2	130,900,236 (GRCm39)	missense
Z1177:Adam33	UTSW	2	130,900,582 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TTCTGTAGTTGCACTGGAACCC -3'
(R):5'- CGTGGATAGGATTGTTGCAGATAAC -3'

Sequencing Primer
(F):5'- GTAGTTGCACTGGAACCCATGAC -3'
(R):5'- TTGTTGCAGATAACGCCAGG -3'

Posted On

2015-05-15