Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01798:Adam22'

155434

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Adam22

Ensembl Gene

ENSMUSG00000040537

Gene Name

a disintegrin and metallopeptidase domain 22

Synonyms

MDC2, 2900022I03Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01798

Quality Score

Status

Chromosome

Chromosomal Location

8122352-8418160 bp(-) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to C at 8282604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046838] [ENSMUST00000050166] [ENSMUST00000088744] [ENSMUST00000088761] [ENSMUST00000115385] [ENSMUST00000115386] [ENSMUST00000115388]

AlphaFold

Q9R1V6

Predicted Effect

probably null
Transcript: ENSMUST00000046838

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537

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

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537

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

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537

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

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537

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: ENSMUST00000115385

SMART Domains

Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Pep_M12B_propep	40	186	5.2e-28	PFAM
low complexity region	214	230	N/A	INTRINSIC
Pfam:Reprolysin	237	333	2e-25	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000115386

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537

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

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537

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

noncoding transcript
Transcript: ENSMUST00000138652

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	T	C	9: 57,163,921 (GRCm39)	I818V	probably benign	Het
Afap1	T	A	5: 36,093,026 (GRCm39)		probably null	Het
Aunip	G	T	4: 134,250,722 (GRCm39)	K222N	possibly damaging	Het
Ccnt1	A	G	15: 98,442,122 (GRCm39)	V382A	probably benign	Het
Clip1	T	C	5: 123,721,612 (GRCm39)	D1123G	probably damaging	Het
Cxcr1	T	A	1: 74,231,759 (GRCm39)	I88F	possibly damaging	Het
Duox2	A	C	2: 122,112,389 (GRCm39)	Y1266D	probably damaging	Het
Elk4	T	A	1: 131,945,592 (GRCm39)	S157T	possibly damaging	Het
Erc1	T	C	6: 119,597,298 (GRCm39)	T1004A	possibly damaging	Het
Fah	T	C	7: 84,238,837 (GRCm39)	N336S	probably benign	Het
Glg1	A	T	8: 111,919,332 (GRCm39)	S253T	possibly damaging	Het
Gm10377	A	T	14: 42,614,864 (GRCm39)	I167K	probably benign	Het
Hipk1	A	T	3: 103,668,875 (GRCm39)	I507N	probably damaging	Het
Hnf1a	T	C	5: 115,091,732 (GRCm39)	E357G	probably damaging	Het
Ighv1-22	A	T	12: 114,710,298 (GRCm39)	L10H	probably damaging	Het
Igkv6-23	A	G	6: 70,237,574 (GRCm39)	Y56H	probably damaging	Het
Lyrm9	A	G	11: 78,728,955 (GRCm39)	I56V	probably damaging	Het
Ncam1	G	T	9: 49,419,907 (GRCm39)	T804K	probably damaging	Het
Nfu1	T	A	6: 86,992,605 (GRCm39)	I73K	probably damaging	Het
Ruvbl2	A	G	7: 45,071,587 (GRCm39)	L432P	probably damaging	Het
Tcf3	T	C	10: 80,249,043 (GRCm39)	T527A	probably benign	Het
Tle1	T	C	4: 72,055,385 (GRCm39)	D432G	probably damaging	Het

Other mutations in Adam22

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Adam22	APN	5	8,177,333 (GRCm39)	missense	probably benign	0.44
IGL01368:Adam22	APN	5	8,177,411 (GRCm39)	missense	probably damaging	1.00
IGL01406:Adam22	APN	5	8,180,212 (GRCm39)	nonsense	probably null
IGL01463:Adam22	APN	5	8,142,790 (GRCm39)	missense	probably damaging	1.00
IGL01691:Adam22	APN	5	8,142,742 (GRCm39)	missense	probably damaging	1.00
IGL01975:Adam22	APN	5	8,217,396 (GRCm39)	missense	probably damaging	1.00
IGL02076:Adam22	APN	5	8,186,900 (GRCm39)	missense	probably damaging	1.00
IGL02170:Adam22	APN	5	8,184,845 (GRCm39)	missense	probably benign
IGL02189:Adam22	APN	5	8,380,029 (GRCm39)	missense	possibly damaging	0.91
IGL02859:Adam22	APN	5	8,217,375 (GRCm39)	missense	probably damaging	1.00
IGL03189:Adam22	APN	5	8,161,897 (GRCm39)	nonsense	probably null
IGL03326:Adam22	APN	5	8,177,421 (GRCm39)	missense	probably damaging	1.00
IGL03329:Adam22	APN	5	8,199,210 (GRCm39)	missense	possibly damaging	0.48
IGL03354:Adam22	APN	5	8,208,890 (GRCm39)	missense	possibly damaging	0.82
IGL03394:Adam22	APN	5	8,217,379 (GRCm39)	missense	probably benign	0.00
IGL03047:Adam22	UTSW	5	8,132,220 (GRCm39)	missense	probably damaging	1.00
R0445:Adam22	UTSW	5	8,230,591 (GRCm39)	intron	probably benign
R0486:Adam22	UTSW	5	8,380,048 (GRCm39)	missense	probably damaging	1.00
R0669:Adam22	UTSW	5	8,193,036 (GRCm39)	splice site	probably benign
R0866:Adam22	UTSW	5	8,132,156 (GRCm39)	missense	probably damaging	0.98
R1510:Adam22	UTSW	5	8,202,408 (GRCm39)	missense	probably benign	0.06
R1562:Adam22	UTSW	5	8,145,007 (GRCm39)	missense	probably damaging	1.00
R1640:Adam22	UTSW	5	8,195,689 (GRCm39)	missense	probably damaging	1.00
R1903:Adam22	UTSW	5	8,184,525 (GRCm39)	missense	probably damaging	1.00
R1939:Adam22	UTSW	5	8,380,015 (GRCm39)	missense	probably damaging	1.00
R1998:Adam22	UTSW	5	8,379,995 (GRCm39)	missense	probably damaging	1.00
R2012:Adam22	UTSW	5	8,167,634 (GRCm39)	missense	probably damaging	1.00
R2214:Adam22	UTSW	5	8,186,805 (GRCm39)	critical splice donor site	probably null
R2270:Adam22	UTSW	5	8,171,108 (GRCm39)	missense	probably damaging	0.98
R2271:Adam22	UTSW	5	8,171,108 (GRCm39)	missense	probably damaging	0.98
R2286:Adam22	UTSW	5	8,195,616 (GRCm39)	missense	probably damaging	1.00
R2304:Adam22	UTSW	5	8,142,366 (GRCm39)	missense	probably damaging	1.00
R2406:Adam22	UTSW	5	8,230,064 (GRCm39)	intron	probably benign
R2656:Adam22	UTSW	5	8,167,696 (GRCm39)	missense	probably damaging	1.00
R3106:Adam22	UTSW	5	8,167,583 (GRCm39)	splice site	probably null
R3870:Adam22	UTSW	5	8,182,418 (GRCm39)	missense	probably damaging	1.00
R3923:Adam22	UTSW	5	8,180,514 (GRCm39)	missense	possibly damaging	0.68
R4092:Adam22	UTSW	5	8,145,004 (GRCm39)	missense	probably damaging	1.00
R4180:Adam22	UTSW	5	8,199,218 (GRCm39)	missense	probably damaging	1.00
R4247:Adam22	UTSW	5	8,195,626 (GRCm39)	missense	probably benign
R4486:Adam22	UTSW	5	8,230,227 (GRCm39)	intron	probably benign
R4629:Adam22	UTSW	5	8,282,663 (GRCm39)	missense	possibly damaging	0.95
R4744:Adam22	UTSW	5	8,128,699 (GRCm39)	missense	probably damaging	0.98
R4839:Adam22	UTSW	5	8,186,813 (GRCm39)	missense	probably damaging	1.00
R5007:Adam22	UTSW	5	8,217,393 (GRCm39)	missense	probably damaging	1.00
R5030:Adam22	UTSW	5	8,229,645 (GRCm39)	intron	probably benign
R5061:Adam22	UTSW	5	8,230,238 (GRCm39)	intron	probably benign
R5312:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5353:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5354:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5356:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5423:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5424:Adam22	UTSW	5	8,140,182 (GRCm39)	missense	probably damaging	1.00
R5719:Adam22	UTSW	5	8,417,217 (GRCm39)	missense	probably benign
R5763:Adam22	UTSW	5	8,184,544 (GRCm39)	missense	probably damaging	1.00
R5768:Adam22	UTSW	5	8,177,426 (GRCm39)	missense	probably benign	0.35
R5776:Adam22	UTSW	5	8,177,361 (GRCm39)	missense	probably benign	0.26
R5839:Adam22	UTSW	5	8,186,861 (GRCm39)	missense	probably damaging	0.99
R6314:Adam22	UTSW	5	8,177,365 (GRCm39)	nonsense	probably null
R6520:Adam22	UTSW	5	8,166,635 (GRCm39)	missense	probably damaging	0.98
R6798:Adam22	UTSW	5	8,210,784 (GRCm39)	missense	probably damaging	1.00
R6924:Adam22	UTSW	5	8,417,322 (GRCm39)	missense	possibly damaging	0.78
R6938:Adam22	UTSW	5	8,196,499 (GRCm39)	missense	probably benign	0.01
R7317:Adam22	UTSW	5	8,140,202 (GRCm39)	missense	probably benign
R7402:Adam22	UTSW	5	8,145,049 (GRCm39)	missense	possibly damaging	0.95
R7431:Adam22	UTSW	5	8,142,818 (GRCm39)	missense	probably damaging	1.00
R7527:Adam22	UTSW	5	8,132,239 (GRCm39)	missense	possibly damaging	0.66
R7571:Adam22	UTSW	5	8,132,160 (GRCm39)	nonsense	probably null
R7627:Adam22	UTSW	5	8,417,933 (GRCm39)	missense	probably benign
R7678:Adam22	UTSW	5	8,137,750 (GRCm39)	splice site	probably null
R7714:Adam22	UTSW	5	8,167,587 (GRCm39)	critical splice donor site	probably null
R7806:Adam22	UTSW	5	8,142,825 (GRCm39)	missense	probably damaging	1.00
R7834:Adam22	UTSW	5	8,180,535 (GRCm39)	missense	probably damaging	1.00
R7837:Adam22	UTSW	5	8,199,284 (GRCm39)	critical splice acceptor site	probably null
R7979:Adam22	UTSW	5	8,186,804 (GRCm39)	critical splice donor site	probably null
R8123:Adam22	UTSW	5	8,142,833 (GRCm39)	critical splice acceptor site	probably null
R8511:Adam22	UTSW	5	8,184,558 (GRCm39)	missense	probably damaging	0.98
R8722:Adam22	UTSW	5	8,166,554 (GRCm39)	missense	probably benign
R8730:Adam22	UTSW	5	8,208,830 (GRCm39)	missense	probably benign	0.00
R8956:Adam22	UTSW	5	8,142,343 (GRCm39)	missense	probably damaging	1.00
R9015:Adam22	UTSW	5	8,136,688 (GRCm39)	intron	probably benign
R9068:Adam22	UTSW	5	8,177,343 (GRCm39)	missense	probably benign	0.01
R9198:Adam22	UTSW	5	8,167,583 (GRCm39)	splice site	probably null
R9441:Adam22	UTSW	5	8,161,974 (GRCm39)	missense	possibly damaging	0.70
R9480:Adam22	UTSW	5	8,193,077 (GRCm39)	missense	probably benign	0.01
X0067:Adam22	UTSW	5	8,177,329 (GRCm39)	missense	probably benign	0.05

Posted On

2014-02-04