Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03394:Adam22'

421184

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 #

IGL03394

Quality Score

Status

Chromosome

Chromosomal Location

8122352-8418160 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 8217379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 139 (I139V)

Ref Sequence

ENSEMBL: ENSMUSP00000111043 (fasta)

Gene Model

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

AlphaFold

Q9R1V6

Predicted Effect

probably benign
Transcript: ENSMUST00000046838
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000049120
Gene: ENSMUSG00000040537
AA Change: I139V

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 benign
Transcript: ENSMUST00000050166
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000055000
Gene: ENSMUSG00000040537
AA Change: I139V

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 benign
Transcript: ENSMUST00000088744
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086122
Gene: ENSMUSG00000040537
AA Change: I139V

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 benign
Transcript: ENSMUST00000088761
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000086139
Gene: ENSMUSG00000040537
AA Change: I139V

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 benign
Transcript: ENSMUST00000115385
AA Change: I139V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000111043
Gene: ENSMUSG00000040537
AA Change: I139V

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 benign
Transcript: ENSMUST00000115386
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111044
Gene: ENSMUSG00000040537
AA Change: I139V

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 benign
Transcript: ENSMUST00000115388
AA Change: I139V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111046
Gene: ENSMUSG00000040537
AA Change: I139V

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,635,277 (GRCm39)	L242P	probably damaging	Het
Ahr	G	T	12: 35,553,751 (GRCm39)	Y789*	probably null	Het
Ankrd27	C	A	7: 35,306,523 (GRCm39)		probably null	Het
Ano1	T	C	7: 144,149,176 (GRCm39)		probably null	Het
Ap4e1	T	A	2: 126,905,317 (GRCm39)	M996K	probably benign	Het
Bglap	T	C	3: 88,291,312 (GRCm39)	K42E	probably benign	Het
Ccdc30	A	T	4: 119,216,779 (GRCm39)	S220R	probably damaging	Het
Clic5	A	G	17: 44,548,105 (GRCm39)	N50S	probably benign	Het
Csnk2a1-ps3	A	T	1: 156,352,792 (GRCm39)	Q331L	probably benign	Het
Cyp20a1	T	G	1: 60,405,840 (GRCm39)	D211E	probably damaging	Het
Dctn1	G	A	6: 83,168,266 (GRCm39)	V408I	possibly damaging	Het
Exoc6	T	C	19: 37,588,020 (GRCm39)	I551T	probably benign	Het
Fat4	C	T	3: 38,946,168 (GRCm39)	T1687M	probably damaging	Het
Fat4	T	A	3: 39,063,513 (GRCm39)	C4490S	probably damaging	Het
Fras1	T	A	5: 96,815,336 (GRCm39)	I1351N	probably damaging	Het
Igkv2-116	T	C	6: 68,129,327 (GRCm39)		noncoding transcript	Het
Iws1	T	G	18: 32,221,301 (GRCm39)		probably benign	Het
Mlh1	A	T	9: 111,097,311 (GRCm39)	I61N	probably damaging	Het
Mtmr7	C	T	8: 41,061,972 (GRCm39)	V38M	probably damaging	Het
Myh7	G	T	14: 55,212,818 (GRCm39)	A1409D	probably damaging	Het
Myt1	A	T	2: 181,439,638 (GRCm39)	I387F	probably damaging	Het
Nars2	A	G	7: 96,689,220 (GRCm39)	N381D	possibly damaging	Het
Nsd3	T	C	8: 26,165,765 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,617,933 (GRCm39)	S162P	probably damaging	Het
Oog2	T	C	4: 143,920,576 (GRCm39)	F3S	probably benign	Het
Or8b1b	A	G	9: 38,375,517 (GRCm39)	Y60C	probably damaging	Het
Oxgr1	T	C	14: 120,260,022 (GRCm39)	M62V	possibly damaging	Het
Pcgf1	A	G	6: 83,056,121 (GRCm39)	Y75C	probably damaging	Het
Ppp3cc	C	A	14: 70,462,477 (GRCm39)	E396*	probably null	Het
Ptx4	T	A	17: 25,343,649 (GRCm39)	C300S	probably damaging	Het
Rassf4	C	T	6: 116,618,708 (GRCm39)	V192I	probably damaging	Het
Rundc3b	T	C	5: 8,598,261 (GRCm39)	T203A	possibly damaging	Het
Serpinb3c	T	C	1: 107,199,603 (GRCm39)	D306G	probably benign	Het
Sipa1l2	T	C	8: 126,218,398 (GRCm39)	E313G	possibly damaging	Het
Snx5	G	A	2: 144,095,674 (GRCm39)	A329V	probably damaging	Het
Stx1b	T	C	7: 127,407,056 (GRCm39)	D213G	probably damaging	Het
Tpd52l2	G	A	2: 181,156,879 (GRCm39)	V172I	probably benign	Het
Trim50	A	T	5: 135,392,807 (GRCm39)	I241F	probably damaging	Het
Ttn	G	A	2: 76,580,760 (GRCm39)	H23378Y	probably benign	Het
Vmn1r193	T	A	13: 22,403,939 (GRCm39)	M18L	probably benign	Het
Vmn1r226	A	G	17: 20,908,446 (GRCm39)	N226S	probably benign	Het
Vmn2r14	T	A	5: 109,367,702 (GRCm39)	Q430L	probably null	Het
Xirp2	T	A	2: 67,345,538 (GRCm39)	V2593D	probably damaging	Het
Zfp169	A	T	13: 48,643,400 (GRCm39)	F576I	possibly damaging	Het
Zfp667	T	C	7: 6,292,438 (GRCm39)		probably null	Het
Zzef1	A	G	11: 72,777,601 (GRCm39)		probably null	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
IGL01798:Adam22	APN	5	8,282,604 (GRCm39)	splice site	probably null
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
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

2016-08-02