Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03189:Adam22'

412566

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam22

Ensembl Gene

ENSMUSG00000040537

Gene Name

a disintegrin and metallopeptidase domain 22

Synonyms

2900022I03Rik, MDC2

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL03189

Quality Score

Status

Chromosome

Chromosomal Location

8072352-8368160 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 8111897 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 50 (Y50*)

Ref Sequence

ENSEMBL: ENSMUSP00000143097 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115386] [ENSMUST00000115388] [ENSMUST00000123168] [ENSMUST00000126384] [ENSMUST00000130315] [ENSMUST00000136524] [ENSMUST00000136808] [ENSMUST00000144241] [ENSMUST00000199853] [ENSMUST00000139841] [ENSMUST00000153427] [ENSMUST00000153889] [ENSMUST00000154935] [ENSMUST00000197700] [ENSMUST00000139048]

AlphaFold

Q9R1V6

Predicted Effect

probably null
Transcript: ENSMUST00000046838
AA Change: Y758*

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: Y758*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	7e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	9.3e-9	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	789	808	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000050166
AA Change: Y758*

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: Y758*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	7.6e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.1e-8	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3.4e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	824	839	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088744
AA Change: Y758*

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: Y758*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	41	186	4.2e-29	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.2e-8	PFAM
Pfam:Reprolysin	237	436	2.9e-65	PFAM
Pfam:Reprolysin_3	261	378	9.2e-13	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	736	758	N/A	INTRINSIC
low complexity region	785	800	N/A	INTRINSIC
low complexity region	883	898	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000088761
AA Change: Y758*

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: Y758*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	8.1e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.2e-8	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3.6e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	789	808	N/A	INTRINSIC
low complexity region	860	875	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115386
AA Change: Y758*

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: Y758*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	3.4e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	5.1e-9	PFAM
Pfam:Reprolysin	237	436	5e-59	PFAM
Pfam:Reprolysin_3	261	379	1.6e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	850	870	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000115388
AA Change: Y758*

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: Y758*

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	44	186	8e-27	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin_5	235	405	1.1e-8	PFAM
Pfam:Reprolysin	237	436	1.1e-58	PFAM
Pfam:Reprolysin_3	261	379	3.5e-12	PFAM
DISIN	451	527	3.38e-31	SMART
ACR	528	669	3.05e-58	SMART
EGF	676	710	1.28e1	SMART
transmembrane domain	735	757	N/A	INTRINSIC
low complexity region	852	872	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000123168
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000122758
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	123	143	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000124121
AA Change: Y140*

SMART Domains

Protein: ENSMUSP00000122652
Gene: ENSMUSG00000040537
AA Change: Y140*

Domain	Start	End	E-Value	Type
Blast:ACR	2	52	5e-28	BLAST
EGF	59	93	1.28e1	SMART
transmembrane domain	118	140	N/A	INTRINSIC
low complexity region	207	222	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000126384
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000118571
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	181	196	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000130315
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000121156
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	150	170	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000136524
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000116422
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	152	172	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000136808
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000122426
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	207	227	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000144241
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000138353
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	75	94	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000199853
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000143097
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139841
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000115775
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	144	164	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000153427
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000120995
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	75	94	N/A	INTRINSIC
low complexity region	209	229	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000153889
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000123196
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	81	100	N/A	INTRINSIC
low complexity region	152	167	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000154935
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000119409
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	225	245	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000197700
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000142580
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000139048
AA Change: Y50*

SMART Domains

Protein: ENSMUSP00000116736
Gene: ENSMUSG00000040537
AA Change: Y50*

Domain	Start	End	E-Value	Type
transmembrane domain	27	49	N/A	INTRINSIC
low complexity region	81	100	N/A	INTRINSIC
low complexity region	186	206	N/A	INTRINSIC

Coding Region Coverage

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. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. The protein encoded by this gene is believed to lack metalloproteinase activity due to the lack of a critical catalytic motif. Mice lacking the encoded protein exhibit severe ataxia, hypomyelination and premature death. Alternative splicing results in multiple transcript variants encoding different isoforms, some of which may undergo similar processing. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygous mutant mice exhibit severe ataxia, die before weaning and have marked hypomyelination of the peripheral nerves. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930412O13Rik	A	G	2: 9,883,823		probably benign	Het
Abcb1b	A	G	5: 8,845,814	T916A	probably benign	Het
Adprhl2	T	C	4: 126,317,294		probably benign	Het
Ahnak	G	A	19: 9,011,239	V3296M	possibly damaging	Het
Bfar	A	G	16: 13,687,501	D125G	possibly damaging	Het
Bmp3	A	T	5: 98,872,720	Q334L	probably benign	Het
Camsap2	A	T	1: 136,281,662	D697E	probably damaging	Het
Car11	A	G	7: 45,702,455	T103A	probably damaging	Het
Cecr2	T	A	6: 120,762,430	S1373T	probably benign	Het
Cenpm	A	G	15: 82,234,433	V160A	possibly damaging	Het
Chl1	A	T	6: 103,683,207	I365F	possibly damaging	Het
Col20a1	C	T	2: 181,009,407	Q1089*	probably null	Het
Csf1r	A	T	18: 61,105,986	T13S	probably benign	Het
Fam13a	T	C	6: 58,956,858	E249G	probably damaging	Het
Fgd6	G	A	10: 94,044,456	V391I	probably benign	Het
Fhdc1	G	A	3: 84,455,061		probably benign	Het
Fn3krp	T	C	11: 121,429,630	I267T	probably damaging	Het
Fras1	A	T	5: 96,743,071	I2820F	probably benign	Het
Fyb2	A	G	4: 105,015,742	I771V	probably damaging	Het
Glis1	A	G	4: 107,615,051	Y275C	probably damaging	Het
Hdgf	A	G	3: 87,913,428	T62A	possibly damaging	Het
Hsd17b3	C	T	13: 64,063,087		probably null	Het
Iqgap1	T	A	7: 80,713,842	Y1655F	probably benign	Het
Izumo1	A	G	7: 45,625,164	D181G	probably damaging	Het
Lrp2	T	C	2: 69,438,478		probably benign	Het
Mark1	T	C	1: 184,919,693	N95S	probably damaging	Het
Mbd5	A	G	2: 49,257,751	K658E	probably damaging	Het
Mcm6	C	T	1: 128,344,302	D453N	probably damaging	Het
Mfsd14a	T	C	3: 116,641,855	D187G	probably benign	Het
Mrpl19	G	T	6: 81,961,993	S276*	probably null	Het
Ncoa2	G	A	1: 13,190,136	T105M	probably damaging	Het
Nop14	A	G	5: 34,650,628		probably benign	Het
Olfr1018	A	G	2: 85,823,558	T196A	probably benign	Het
Olfr1152	G	A	2: 87,868,215	A75T	possibly damaging	Het
Olfr170	T	C	16: 19,606,591	T26A	probably benign	Het
Otud7b	G	A	3: 96,155,478	S678N	probably benign	Het
Pcdhb6	G	A	18: 37,336,152	V25M	probably damaging	Het
Prpf39	G	T	12: 65,043,302	G5*	probably null	Het
Serpinb9d	T	C	13: 33,202,912	V321A	probably damaging	Het
Sh2b1	A	G	7: 126,468,530	S613P	possibly damaging	Het
Snx30	T	C	4: 59,857,452	I55T	probably benign	Het
Spata13	T	C	14: 60,691,614	I207T	possibly damaging	Het
Suco	T	C	1: 161,857,337		probably benign	Het
Svs2	A	G	2: 164,237,112	S292P	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Tmem45a	A	T	16: 56,811,573	Y227*	probably null	Het
Tnfsf15	A	G	4: 63,730,052		probably benign	Het
Ttc26	C	T	6: 38,425,231	P553S	probably benign	Het
Vmn2r4	C	A	3: 64,389,168	R732L	possibly damaging	Het
Wdr7	C	T	18: 63,760,601	T602I	probably benign	Het

Other mutations in Adam22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Adam22	APN	5	8127333	missense	probably benign	0.44
IGL01368:Adam22	APN	5	8127411	missense	probably damaging	1.00
IGL01406:Adam22	APN	5	8130212	nonsense	probably null
IGL01463:Adam22	APN	5	8092790	missense	probably damaging	1.00
IGL01691:Adam22	APN	5	8092742	missense	probably damaging	1.00
IGL01798:Adam22	APN	5	8232604	splice site	probably null
IGL01975:Adam22	APN	5	8167396	missense	probably damaging	1.00
IGL02076:Adam22	APN	5	8136900	missense	probably damaging	1.00
IGL02170:Adam22	APN	5	8134845	missense	probably benign
IGL02189:Adam22	APN	5	8330029	missense	possibly damaging	0.91
IGL02859:Adam22	APN	5	8167375	missense	probably damaging	1.00
IGL03326:Adam22	APN	5	8127421	missense	probably damaging	1.00
IGL03329:Adam22	APN	5	8149210	missense	possibly damaging	0.48
IGL03354:Adam22	APN	5	8158890	missense	possibly damaging	0.82
IGL03394:Adam22	APN	5	8167379	missense	probably benign	0.00
IGL03047:Adam22	UTSW	5	8082220	missense	probably damaging	1.00
R0445:Adam22	UTSW	5	8180591	intron	probably benign
R0486:Adam22	UTSW	5	8330048	missense	probably damaging	1.00
R0669:Adam22	UTSW	5	8143036	splice site	probably benign
R0866:Adam22	UTSW	5	8082156	missense	probably damaging	0.98
R1510:Adam22	UTSW	5	8152408	missense	probably benign	0.06
R1562:Adam22	UTSW	5	8095007	missense	probably damaging	1.00
R1640:Adam22	UTSW	5	8145689	missense	probably damaging	1.00
R1903:Adam22	UTSW	5	8134525	missense	probably damaging	1.00
R1939:Adam22	UTSW	5	8330015	missense	probably damaging	1.00
R1998:Adam22	UTSW	5	8329995	missense	probably damaging	1.00
R2012:Adam22	UTSW	5	8117634	missense	probably damaging	1.00
R2214:Adam22	UTSW	5	8136805	critical splice donor site	probably null
R2270:Adam22	UTSW	5	8121108	missense	probably damaging	0.98
R2271:Adam22	UTSW	5	8121108	missense	probably damaging	0.98
R2286:Adam22	UTSW	5	8145616	missense	probably damaging	1.00
R2304:Adam22	UTSW	5	8092366	missense	probably damaging	1.00
R2406:Adam22	UTSW	5	8180064	intron	probably benign
R2656:Adam22	UTSW	5	8117696	missense	probably damaging	1.00
R3106:Adam22	UTSW	5	8117583	splice site	probably null
R3870:Adam22	UTSW	5	8132418	missense	probably damaging	1.00
R3923:Adam22	UTSW	5	8130514	missense	possibly damaging	0.68
R4092:Adam22	UTSW	5	8095004	missense	probably damaging	1.00
R4180:Adam22	UTSW	5	8149218	missense	probably damaging	1.00
R4247:Adam22	UTSW	5	8145626	missense	probably benign
R4486:Adam22	UTSW	5	8180227	intron	probably benign
R4629:Adam22	UTSW	5	8232663	missense	possibly damaging	0.95
R4744:Adam22	UTSW	5	8078699	missense	probably damaging	0.98
R4839:Adam22	UTSW	5	8136813	missense	probably damaging	1.00
R5007:Adam22	UTSW	5	8167393	missense	probably damaging	1.00
R5030:Adam22	UTSW	5	8179645	intron	probably benign
R5061:Adam22	UTSW	5	8180238	intron	probably benign
R5312:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5353:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5354:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5356:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5423:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5424:Adam22	UTSW	5	8090182	missense	probably damaging	1.00
R5719:Adam22	UTSW	5	8367217	missense	probably benign
R5763:Adam22	UTSW	5	8134544	missense	probably damaging	1.00
R5768:Adam22	UTSW	5	8127426	missense	probably benign	0.35
R5776:Adam22	UTSW	5	8127361	missense	probably benign	0.26
R5839:Adam22	UTSW	5	8136861	missense	probably damaging	0.99
R6314:Adam22	UTSW	5	8127365	nonsense	probably null
R6520:Adam22	UTSW	5	8116635	missense	probably damaging	0.98
R6798:Adam22	UTSW	5	8160784	missense	probably damaging	1.00
R6924:Adam22	UTSW	5	8367322	missense	possibly damaging	0.78
R6938:Adam22	UTSW	5	8146499	missense	probably benign	0.01
R7317:Adam22	UTSW	5	8090202	missense	probably benign
R7402:Adam22	UTSW	5	8095049	missense	possibly damaging	0.95
R7431:Adam22	UTSW	5	8092818	missense	probably damaging	1.00
R7527:Adam22	UTSW	5	8082239	missense	possibly damaging	0.66
R7571:Adam22	UTSW	5	8082160	nonsense	probably null
R7627:Adam22	UTSW	5	8367933	missense	probably benign
R7678:Adam22	UTSW	5	8087750	splice site	probably null
R7714:Adam22	UTSW	5	8117587	critical splice donor site	probably null
R7806:Adam22	UTSW	5	8092825	missense	probably damaging	1.00
R7834:Adam22	UTSW	5	8130535	missense	probably damaging	1.00
R7837:Adam22	UTSW	5	8149284	critical splice acceptor site	probably null
R7979:Adam22	UTSW	5	8136804	critical splice donor site	probably null
R8123:Adam22	UTSW	5	8092833	critical splice acceptor site	probably null
R8511:Adam22	UTSW	5	8134558	missense	probably damaging	0.98
R8722:Adam22	UTSW	5	8116554	missense	probably benign
R8730:Adam22	UTSW	5	8158830	missense	probably benign	0.00
R8956:Adam22	UTSW	5	8092343	missense	probably damaging	1.00
R9015:Adam22	UTSW	5	8086688	intron	probably benign
R9068:Adam22	UTSW	5	8127343	missense	probably benign	0.01
R9198:Adam22	UTSW	5	8117583	splice site	probably null
R9441:Adam22	UTSW	5	8111974	missense	possibly damaging	0.70
R9480:Adam22	UTSW	5	8143077	missense	probably benign	0.01
X0067:Adam22	UTSW	5	8127329	missense	probably benign	0.05

Posted On

2016-08-02