Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01843:Mdga2'

178118

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mdga2

Ensembl Gene

ENSMUSG00000034912

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 2

Synonyms

Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01843

Quality Score

Status

Chromosome

Chromosomal Location

66466060-67222549 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to A at 66723131 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000222167] [ENSMUST00000223141]

AlphaFold

P60755

Predicted Effect

probably null
Transcript: ENSMUST00000037181

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
IGc2	122	186	1.38e-15	SMART
IG	213	307	1.79e0	SMART
IGc2	324	386	1.56e-14	SMART
IGc2	419	493	4.43e-5	SMART
low complexity region	495	507	N/A	INTRINSIC
IGc2	525	591	1.97e-11	SMART
IG_like	621	687	2.5e0	SMART
Blast:FN3	707	795	4e-40	BLAST
MAM	812	990	3.4e-49	SMART
transmembrane domain	999	1021	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000101379

SMART Domains

Protein: ENSMUSP00000098930
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
SCOP:d1cs6a1	40	72	2e-5	SMART
Blast:IG	47	72	9e-11	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177690

Predicted Effect

probably null
Transcript: ENSMUST00000178814

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGc2	53	117	1.38e-15	SMART
IG	144	238	1.79e0	SMART
IGc2	255	317	1.56e-14	SMART
IGc2	350	424	4.43e-5	SMART
low complexity region	426	438	N/A	INTRINSIC
IGc2	456	522	1.97e-11	SMART
IG_like	552	618	2.5e0	SMART
Blast:FN3	638	726	3e-40	BLAST
MAM	736	914	1.38e-49	SMART
transmembrane domain	923	945	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000222167

Predicted Effect

probably null
Transcript: ENSMUST00000223141

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice that paternally inherit an allele disrupted by transgene insertion exhibit varying degrees of abnormalities in the skull, paw, and tail. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	C	T	6: 128,553,338		probably benign	Het
Ap1b1	T	C	11: 5,039,169	L782P	probably damaging	Het
Arid1a	T	C	4: 133,681,454	D1914G	unknown	Het
C8a	G	A	4: 104,862,611	Q57*	probably null	Het
Cachd1	T	C	4: 100,992,872	S1144P	probably damaging	Het
Cdh23	A	T	10: 60,419,819		probably null	Het
Cenpe	A	G	3: 135,218,507	Q198R	possibly damaging	Het
Cpne8	T	C	15: 90,569,497	I228V	probably benign	Het
Cr2	A	T	1: 195,150,914		probably benign	Het
Csmd3	T	C	15: 47,658,999		probably benign	Het
Cyp2c23	A	G	19: 44,005,607	V440A	probably benign	Het
Dag1	T	C	9: 108,208,082	D620G	possibly damaging	Het
Dmxl1	T	A	18: 49,878,382	L1202*	probably null	Het
Dnah3	T	G	7: 119,943,575	H3538P	probably benign	Het
Dock8	A	T	19: 25,089,928	Q312L	probably benign	Het
E2f7	T	G	10: 110,774,735	V407G	probably benign	Het
F13b	T	C	1: 139,516,427	S500P	probably damaging	Het
F5	A	G	1: 164,211,826	I2002V	probably benign	Het
Flywch1	T	A	17: 23,760,345	M439L	possibly damaging	Het
Gcn1l1	C	A	5: 115,619,700	A2488E	probably damaging	Het
Gria1	T	C	11: 57,317,774	S832P	probably damaging	Het
Hnrnpr	T	C	4: 136,339,413		probably benign	Het
Hps3	A	G	3: 20,029,001	I177T	probably benign	Het
Irgm2	G	A	11: 58,220,341	G298D	probably benign	Het
Kcnk7	G	A	19: 5,706,202	G152D	probably damaging	Het
Man2a2	T	C	7: 80,362,906	T620A	probably benign	Het
Mapk12	A	G	15: 89,137,466		probably benign	Het
Mapk6	T	C	9: 75,390,290	Y315C	probably damaging	Het
Met	T	A	6: 17,491,701	I154N	probably damaging	Het
Nap1l1	A	G	10: 111,492,911	R234G	possibly damaging	Het
Olfm5	C	A	7: 104,160,744	V137F	possibly damaging	Het
Olfr1423	G	T	19: 12,036,677	H22N	probably benign	Het
Pcdha11	C	T	18: 37,012,833	T659I	probably benign	Het
Pfkm	T	C	15: 98,129,306	V620A	possibly damaging	Het
Rbak	A	G	5: 143,176,600		probably benign	Het
Rbl2	A	G	8: 91,090,216	I401M	probably benign	Het
Rragc	T	C	4: 123,921,059	S183P	probably damaging	Het
Sept3	A	G	15: 82,279,613		probably benign	Het
Skiv2l2	T	C	13: 112,918,561		probably benign	Het
Slc22a6	A	T	19: 8,626,214		probably benign	Het
Spag4	A	T	2: 156,068,497	T348S	probably benign	Het
Sptbn1	T	C	11: 30,104,623	R2157G	probably benign	Het
Tmem168	G	A	6: 13,582,941	T263M	probably damaging	Het
Tnik	T	A	3: 28,570,858		probably null	Het
Tnpo2	T	A	8: 85,050,508	V549E	probably damaging	Het
Ttll7	A	C	3: 146,940,021	K545Q	possibly damaging	Het
Tubgcp5	T	G	7: 55,799,473	D139E	probably benign	Het
Vmn1r233	T	A	17: 20,994,599	N30Y	probably damaging	Het
Vmn2r25	T	G	6: 123,853,003	D63A	possibly damaging	Het
Vmn2r79	T	A	7: 87,037,277	L622Q	probably damaging	Het
Vmn2r84	T	C	10: 130,386,279	M691V	probably benign	Het
Zc3hc1	A	T	6: 30,372,730		probably benign	Het

Other mutations in Mdga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Mdga2	APN	12	66723109	missense	probably damaging	0.97
IGL01632:Mdga2	APN	12	66629898	splice site	probably benign
IGL02230:Mdga2	APN	12	66655423	nonsense	probably null
IGL02348:Mdga2	APN	12	66550575	missense	probably damaging	1.00
IGL02473:Mdga2	APN	12	66550611	missense	possibly damaging	0.73
IGL02795:Mdga2	APN	12	66689432	missense	probably benign	0.00
IGL02901:Mdga2	APN	12	66797809	splice site	probably benign
IGL03373:Mdga2	APN	12	66716722	missense	probably damaging	0.99
PIT4362001:Mdga2	UTSW	12	66797768	missense	possibly damaging	0.83
PIT4377001:Mdga2	UTSW	12	66716695	missense	probably damaging	0.99
R0106:Mdga2	UTSW	12	66716706	missense	probably damaging	1.00
R0106:Mdga2	UTSW	12	66716706	missense	probably damaging	1.00
R0110:Mdga2	UTSW	12	66470926	missense	possibly damaging	0.66
R0218:Mdga2	UTSW	12	66655120	missense	probably damaging	1.00
R0450:Mdga2	UTSW	12	66470926	missense	possibly damaging	0.66
R0801:Mdga2	UTSW	12	66486733	missense	probably damaging	1.00
R0847:Mdga2	UTSW	12	66723080	missense	probably damaging	1.00
R1056:Mdga2	UTSW	12	66723120	missense	probably damaging	0.97
R1086:Mdga2	UTSW	12	66506102	splice site	probably benign
R1335:Mdga2	UTSW	12	66716742	splice site	probably null
R1382:Mdga2	UTSW	12	66470916	missense	possibly damaging	0.68
R1490:Mdga2	UTSW	12	66797756	missense	probably benign	0.01
R1521:Mdga2	UTSW	12	66568926	missense	probably benign	0.00
R1556:Mdga2	UTSW	12	66550593	missense	possibly damaging	0.92
R1676:Mdga2	UTSW	12	66568772	missense	probably damaging	1.00
R1676:Mdga2	UTSW	12	66568773	nonsense	probably null
R1698:Mdga2	UTSW	12	66689335	missense	probably damaging	0.97
R1954:Mdga2	UTSW	12	66486708	splice site	probably benign
R2069:Mdga2	UTSW	12	66568917	nonsense	probably null
R2077:Mdga2	UTSW	12	66655362	missense	probably damaging	1.00
R2118:Mdga2	UTSW	12	66868752	missense	probably damaging	1.00
R2146:Mdga2	UTSW	12	66868741	missense	probably damaging	1.00
R2158:Mdga2	UTSW	12	66689381	missense	possibly damaging	0.64
R2189:Mdga2	UTSW	12	66473196	splice site	probably null
R2293:Mdga2	UTSW	12	66568985	nonsense	probably null
R2886:Mdga2	UTSW	12	66506270	splice site	probably benign
R2960:Mdga2	UTSW	12	66629978	nonsense	probably null
R3937:Mdga2	UTSW	12	67221206	unclassified	probably benign
R4437:Mdga2	UTSW	12	66473198	splice site	probably null
R4514:Mdga2	UTSW	12	66716722	missense	probably damaging	0.99
R4693:Mdga2	UTSW	12	66797633	missense	possibly damaging	0.81
R4719:Mdga2	UTSW	12	66471001	unclassified	probably benign
R4744:Mdga2	UTSW	12	66797727	missense	probably benign	0.01
R4756:Mdga2	UTSW	12	66797653	missense	probably damaging	1.00
R4781:Mdga2	UTSW	12	66797622	splice site	probably null
R5022:Mdga2	UTSW	12	66470760	missense	possibly damaging	0.83
R5108:Mdga2	UTSW	12	66486741	missense	probably benign	0.43
R5479:Mdga2	UTSW	12	66655176	missense	probably damaging	1.00
R5710:Mdga2	UTSW	12	66506782	missense	probably damaging	1.00
R5816:Mdga2	UTSW	12	66655182	missense	probably damaging	1.00
R5822:Mdga2	UTSW	12	66655335	missense	probably damaging	1.00
R5996:Mdga2	UTSW	12	66797763	missense	probably benign	0.00
R6038:Mdga2	UTSW	12	66630053	missense	probably damaging	1.00
R6038:Mdga2	UTSW	12	66630053	missense	probably damaging	1.00
R6297:Mdga2	UTSW	12	66506253	missense	probably damaging	1.00
R6484:Mdga2	UTSW	12	66630069	missense	possibly damaging	0.90
R6830:Mdga2	UTSW	12	66723001	missense	probably damaging	1.00
R6912:Mdga2	UTSW	12	66506115	missense	probably benign	0.01
R6971:Mdga2	UTSW	12	66550561	missense	probably damaging	1.00
R7053:Mdga2	UTSW	12	66689384	missense	probably benign	0.41
R7069:Mdga2	UTSW	12	66486752	missense	probably benign	0.31
R7381:Mdga2	UTSW	12	66568896	missense	probably benign	0.44
R7474:Mdga2	UTSW	12	66486761	nonsense	probably null
R7559:Mdga2	UTSW	12	66473229	missense	probably damaging	1.00
R7581:Mdga2	UTSW	12	66506255	missense	probably damaging	0.99
R7596:Mdga2	UTSW	12	66506123	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66689350	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66689351	missense	possibly damaging	0.63
R7852:Mdga2	UTSW	12	66470950	missense	possibly damaging	0.66
R8144:Mdga2	UTSW	12	66655263	missense	probably damaging	1.00
R8319:Mdga2	UTSW	12	67221029	missense	unknown
R8715:Mdga2	UTSW	12	66868752	missense	probably damaging	1.00
R8977:Mdga2	UTSW	12	66797635	missense	possibly damaging	0.88
R9138:Mdga2	UTSW	12	66568889	missense	possibly damaging	0.89
R9177:Mdga2	UTSW	12	66470707	missense	possibly damaging	0.66
R9223:Mdga2	UTSW	12	66568860	missense	possibly damaging	0.81
R9248:Mdga2	UTSW	12	66689452	missense	possibly damaging	0.87
R9264:Mdga2	UTSW	12	66513283	missense	probably damaging	1.00
R9381:Mdga2	UTSW	12	66550530	missense	possibly damaging	0.64
R9456:Mdga2	UTSW	12	66568758	missense	probably benign	0.44
R9633:Mdga2	UTSW	12	66689432	missense	probably benign	0.00
Z1176:Mdga2	UTSW	12	66689443	missense	probably damaging	1.00
Z1186:Mdga2	UTSW	12	66568953	missense	possibly damaging	0.90

Posted On

2014-05-07