Mutagenetix > Incidental Mutation

Incidental Mutation 'R7650:Adam33'

590731

Institutional Source

Beutler Lab

Gene Symbol

Adam33

Ensembl Gene

ENSMUSG00000027318

Gene Name

a disintegrin and metallopeptidase domain 33

Synonyms

MMRRC Submission

045727-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7650 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130892739-130905734 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130903067 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 59 (E59G)

Ref Sequence

ENSEMBL: ENSMUSP00000105861 (fasta)

Gene Model

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

AlphaFold

Q923W9

Predicted Effect

probably damaging
Transcript: ENSMUST00000052104
AA Change: E59G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000052486
Gene: ENSMUSG00000027318
AA Change: E59G

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 damaging
Transcript: ENSMUST00000110232
AA Change: E59G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105861
Gene: ENSMUSG00000027318
AA Change: E59G

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

probably benign
Transcript: ENSMUST00000135149

SMART Domains

Protein: ENSMUSP00000122608
Gene: ENSMUSG00000027318

Domain	Start	End	E-Value	Type
Pfam:Reprolysin_5	68	249	1.8e-23	PFAM
Pfam:Reprolysin_4	68	260	8.6e-12	PFAM
Pfam:Reprolysin	70	269	8.3e-64	PFAM
Pfam:Reprolysin_2	90	259	1.5e-17	PFAM
Pfam:Reprolysin_3	94	216	5.1e-21	PFAM
DISIN	286	361	1.66e-39	SMART
ACR	362	505	8.02e-44	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000147333
AA Change: E58G

SMART Domains

Protein: ENSMUSP00000117097
Gene: ENSMUSG00000027318
AA Change: E58G

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 damaging
Transcript: ENSMUST00000183552
AA Change: E59G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139344
Gene: ENSMUSG00000027318
AA Change: E59G

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

Meta Mutation Damage Score

0.2127

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (80/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	G	A	7: 30,399,214 (GRCm39)	V3I	probably benign	Het
Akap13	T	A	7: 75,293,202 (GRCm39)	V45E	probably benign	Het
Ap1s1	A	G	5: 137,074,387 (GRCm39)	S28P	probably benign	Het
Btnl2	T	C	17: 34,577,103 (GRCm39)	L86P	probably damaging	Het
Carm1	G	A	9: 21,491,668 (GRCm39)	V246I	probably benign	Het
Cdk5rap1	C	T	2: 154,196,036 (GRCm39)	D283N	probably benign	Het
Cfap58	C	A	19: 47,974,967 (GRCm39)	N709K	possibly damaging	Het
Col24a1	A	G	3: 145,020,214 (GRCm39)	D195G	probably benign	Het
Dcaf1	A	G	9: 106,715,543 (GRCm39)	D220G	probably benign	Het
Ddias	C	T	7: 92,508,143 (GRCm39)	G591R	probably benign	Het
Defb22	A	T	2: 152,328,023 (GRCm39)	I54K	probably benign	Het
Dennd4b	G	A	3: 90,176,056 (GRCm39)	W202*	probably null	Het
F2	T	C	2: 91,458,741 (GRCm39)	N523S	possibly damaging	Het
Fam186a	A	G	15: 99,837,788 (GRCm39)	Y2819H	unknown	Het
Fanca	A	T	8: 123,995,303 (GRCm39)		probably null	Het
Fezf2	T	C	14: 12,342,653 (GRCm38)	H404R	probably damaging	Het
Fry	A	G	5: 150,336,883 (GRCm39)	N1418S	probably damaging	Het
Gak	A	G	5: 108,732,161 (GRCm39)	S776P	probably benign	Het
Gbf1	A	G	19: 46,260,978 (GRCm39)	H1181R	probably damaging	Het
Gdf9	G	A	11: 53,327,925 (GRCm39)	E294K	probably benign	Het
Gje1	G	A	10: 14,592,168 (GRCm39)	R205*	probably null	Het
Gm8206	T	C	14: 6,055,211 (GRCm38)		probably null	Het
Gpr162	T	A	6: 124,838,806 (GRCm39)		probably benign	Het
Gxylt1	C	T	15: 93,143,539 (GRCm39)	R363H	probably benign	Het
Hnrnph1	A	T	11: 50,274,726 (GRCm39)	M396L	probably benign	Het
Ice1	A	G	13: 70,737,916 (GRCm39)	V2177A	possibly damaging	Het
Ice1	T	A	13: 70,753,602 (GRCm39)	Q828L	probably damaging	Het
Ift56	T	A	6: 38,371,975 (GRCm39)	N188K	probably benign	Het
Il10	A	T	1: 130,949,192 (GRCm39)	T118S	probably benign	Het
Itpr2	C	T	6: 146,135,492 (GRCm39)	R1813Q	probably benign	Het
Kbtbd12	T	A	6: 88,595,530 (GRCm39)	Q100L	probably damaging	Het
Kin	A	G	2: 10,096,979 (GRCm39)	D276G	possibly damaging	Het
Klhl1	T	C	14: 96,584,379 (GRCm39)	T284A	probably damaging	Het
Kmt2d	C	T	15: 98,748,751 (GRCm39)	A2858T	unknown	Het
Krt8	G	A	15: 101,912,598 (GRCm39)	T26M	probably benign	Het
Lama3	T	A	18: 12,670,895 (GRCm39)	M827K	probably benign	Het
Lingo3	T	C	10: 80,671,597 (GRCm39)	N111S	probably damaging	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,427,071 (GRCm39)		probably benign	Het
Metap1	A	G	3: 138,172,128 (GRCm39)	V263A	probably damaging	Het
Msantd5	G	A	11: 51,125,613 (GRCm39)	E179K	possibly damaging	Het
Muc5ac	A	G	7: 141,363,159 (GRCm39)	T2157A	unknown	Het
Myo1d	G	T	11: 80,492,510 (GRCm39)	H748Q	probably benign	Het
Nfkbiz	A	T	16: 55,638,202 (GRCm39)	N419K	probably benign	Het
Nol10	T	C	12: 17,412,683 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,594,105 (GRCm39)	L284P	probably damaging	Het
Nrp1	T	A	8: 129,224,495 (GRCm39)	W753R	possibly damaging	Het
Obscn	A	G	11: 58,951,820 (GRCm39)	S3978P	probably benign	Het
Opa3	C	A	7: 18,978,896 (GRCm39)	N120K	probably benign	Het
Or5k17	T	A	16: 58,746,416 (GRCm39)	R173*	probably null	Het
Or8g53	A	T	9: 39,683,169 (GRCm39)	F309Y	probably benign	Het
Pabpc1l	T	C	2: 163,891,510 (GRCm39)	L576S	probably benign	Het
Panx3	A	G	9: 37,572,701 (GRCm39)	L283S	probably damaging	Het
Pcdhb4	T	A	18: 37,442,667 (GRCm39)	V659E	probably damaging	Het
Pde4dip	A	T	3: 97,606,423 (GRCm39)		probably null	Het
Pkd1l3	T	C	8: 110,399,217 (GRCm39)	V2200A	probably benign	Het
Pkp3	G	A	7: 140,662,283 (GRCm39)	M112I	probably benign	Het
Prex2	T	C	1: 11,220,078 (GRCm39)	I683T	possibly damaging	Het
Psg22	C	A	7: 18,460,684 (GRCm39)	Q438K	possibly damaging	Het
Ptgir	T	C	7: 16,640,876 (GRCm39)	V56A	possibly damaging	Het
Pus7	G	T	5: 23,965,244 (GRCm39)	T304K	probably damaging	Het
Rab38	T	C	7: 88,079,637 (GRCm39)	Y10H	possibly damaging	Het
Ros1	C	T	10: 51,922,305 (GRCm39)	G2277D	probably benign	Het
Rpain	A	T	11: 70,861,271 (GRCm39)		probably benign	Het
Shh	C	A	5: 28,663,304 (GRCm39)	S288I	probably benign	Het
Slc26a5	C	T	5: 22,039,328 (GRCm39)	V259M	possibly damaging	Het
Slc4a7	G	A	14: 14,773,348 (GRCm38)	E773K	probably benign	Het
Slit1	T	A	19: 41,618,363 (GRCm39)	N771I	probably damaging	Het
Stim1	T	A	7: 102,078,034 (GRCm39)	S179T		Het
Syk	A	G	13: 52,765,131 (GRCm39)	D86G	probably benign	Het
Tmem132b	T	G	5: 125,864,074 (GRCm39)	S727A	probably benign	Het
Trim42	T	A	9: 97,245,201 (GRCm39)	Y533F	probably benign	Het
Trpm6	A	T	19: 18,853,377 (GRCm39)	D1799V	possibly damaging	Het
Ube4a	A	T	9: 44,844,734 (GRCm39)	I839N	probably damaging	Het
Ugt2b36	A	G	5: 87,228,831 (GRCm39)	I404T	probably damaging	Het
Ushbp1	T	A	8: 71,843,568 (GRCm39)	Q290L	possibly damaging	Het
Vcl	T	A	14: 21,045,114 (GRCm39)	I273K	probably damaging	Het
Vmn2r73	T	A	7: 85,521,147 (GRCm39)	I274L	probably benign	Het
Zc3h7b	A	G	15: 81,677,851 (GRCm39)	D945G	possibly damaging	Het
Zfp454	A	G	11: 50,774,580 (GRCm39)	L31P	probably damaging	Het
Zfp536	C	A	7: 37,269,117 (GRCm39)	V100L	probably damaging	Het
Zfp942	A	T	17: 22,147,818 (GRCm39)	S270R	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
R4077:Adam33	UTSW	2	130,905,444 (GRCm39)	utr 5 prime	probably benign
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
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'- AGCCTCACGCCATCTAGATG -3'
(R):5'- CCGCTTCAAATTCCCCAATGG -3'

Sequencing Primer
(F):5'- ACGCCATCTAGATGTCTCTTTG -3'
(R):5'- ATCCTGGAAGTGCTACACATG -3'

Posted On

2019-10-24