Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02230:Mdga2'

285649

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mdga2

Ensembl Gene

ENSMUSG00000034912

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 2

Synonyms

6720489L24Rik, Mdga2, Adp, 9330209L04Rik, Mamdc1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

66512834-67269323 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 66702197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 335 (R335*)

Ref Sequence

ENSEMBL: ENSMUSP00000152613 (fasta)

Gene Model

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

AlphaFold

P60755

Predicted Effect

probably null
Transcript: ENSMUST00000037181
AA Change: R404*

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: R404*

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

probably null
Transcript: ENSMUST00000178814
AA Change: R394*

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: R394*

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
AA Change: R335*

Predicted Effect

probably null
Transcript: ENSMUST00000223141
AA Change: R335*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223289

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	A	12: 80,218,604 (GRCm39)	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,291,193 (GRCm39)	I374F	probably damaging	Het
Ecel1	T	C	1: 87,079,916 (GRCm39)	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,844,190 (GRCm39)	E317G	probably damaging	Het
Gm10030	T	A	9: 110,835,458 (GRCm39)		noncoding transcript	Het
Gm4884	A	T	7: 40,692,829 (GRCm39)	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,071,816 (GRCm39)	A153E	probably damaging	Het
Hc	A	G	2: 34,903,682 (GRCm39)	F991L	probably benign	Het
Hif1a	T	G	12: 73,979,224 (GRCm39)	D249E	probably damaging	Het
Hsd17b12	A	G	2: 93,875,743 (GRCm39)	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,245,956 (GRCm39)	S947P	probably damaging	Het
Kng1	G	T	16: 22,879,244 (GRCm39)		probably null	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,879 (GRCm39)	K245N	probably damaging	Het
Naa16	A	T	14: 79,614,801 (GRCm39)		probably benign	Het
Ncbp1	C	A	4: 46,165,272 (GRCm39)	N528K	probably benign	Het
Or10a2	A	G	7: 106,673,700 (GRCm39)	I222V	probably damaging	Het
Or7a41	T	A	10: 78,870,876 (GRCm39)	M82K	probably damaging	Het
Pipox	A	G	11: 77,772,032 (GRCm39)	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,747,925 (GRCm39)	A206S	probably damaging	Het
Rasgrf2	A	G	13: 92,136,145 (GRCm39)	I589T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354 (GRCm39)	E24G	probably damaging	Het
Sec24a	T	C	11: 51,599,861 (GRCm39)	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,641,561 (GRCm39)	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,478,371 (GRCm39)	R83C	probably damaging	Het
Sntg1	A	T	1: 8,752,195 (GRCm39)		probably null	Het
Stmn1	A	G	4: 134,200,224 (GRCm39)	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,014,019 (GRCm39)	I16V	possibly damaging	Het
Vit	A	G	17: 78,927,056 (GRCm39)	K334E	probably damaging	Het
Washc4	T	C	10: 83,417,233 (GRCm39)	I876T	probably benign	Het
Wrn	A	T	8: 33,807,591 (GRCm39)	V289D	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Mdga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Mdga2	APN	12	66,769,883 (GRCm39)	missense	probably damaging	0.97
IGL01632:Mdga2	APN	12	66,676,672 (GRCm39)	splice site	probably benign
IGL01843:Mdga2	APN	12	66,769,905 (GRCm39)	critical splice acceptor site	probably null
IGL02348:Mdga2	APN	12	66,597,349 (GRCm39)	missense	probably damaging	1.00
IGL02473:Mdga2	APN	12	66,597,385 (GRCm39)	missense	possibly damaging	0.73
IGL02795:Mdga2	APN	12	66,736,206 (GRCm39)	missense	probably benign	0.00
IGL02901:Mdga2	APN	12	66,844,583 (GRCm39)	splice site	probably benign
IGL03373:Mdga2	APN	12	66,763,496 (GRCm39)	missense	probably damaging	0.99
PIT4362001:Mdga2	UTSW	12	66,844,542 (GRCm39)	missense	possibly damaging	0.83
PIT4377001:Mdga2	UTSW	12	66,763,469 (GRCm39)	missense	probably damaging	0.99
R0106:Mdga2	UTSW	12	66,763,480 (GRCm39)	missense	probably damaging	1.00
R0106:Mdga2	UTSW	12	66,763,480 (GRCm39)	missense	probably damaging	1.00
R0110:Mdga2	UTSW	12	66,517,700 (GRCm39)	missense	possibly damaging	0.66
R0218:Mdga2	UTSW	12	66,701,894 (GRCm39)	missense	probably damaging	1.00
R0450:Mdga2	UTSW	12	66,517,700 (GRCm39)	missense	possibly damaging	0.66
R0801:Mdga2	UTSW	12	66,533,507 (GRCm39)	missense	probably damaging	1.00
R0847:Mdga2	UTSW	12	66,769,854 (GRCm39)	missense	probably damaging	1.00
R1056:Mdga2	UTSW	12	66,769,894 (GRCm39)	missense	probably damaging	0.97
R1086:Mdga2	UTSW	12	66,552,876 (GRCm39)	splice site	probably benign
R1335:Mdga2	UTSW	12	66,763,516 (GRCm39)	splice site	probably null
R1382:Mdga2	UTSW	12	66,517,690 (GRCm39)	missense	possibly damaging	0.68
R1490:Mdga2	UTSW	12	66,844,530 (GRCm39)	missense	probably benign	0.01
R1521:Mdga2	UTSW	12	66,615,700 (GRCm39)	missense	probably benign	0.00
R1556:Mdga2	UTSW	12	66,597,367 (GRCm39)	missense	possibly damaging	0.92
R1676:Mdga2	UTSW	12	66,615,547 (GRCm39)	nonsense	probably null
R1676:Mdga2	UTSW	12	66,615,546 (GRCm39)	missense	probably damaging	1.00
R1698:Mdga2	UTSW	12	66,736,109 (GRCm39)	missense	probably damaging	0.97
R1954:Mdga2	UTSW	12	66,533,482 (GRCm39)	splice site	probably benign
R2069:Mdga2	UTSW	12	66,615,691 (GRCm39)	nonsense	probably null
R2077:Mdga2	UTSW	12	66,702,136 (GRCm39)	missense	probably damaging	1.00
R2118:Mdga2	UTSW	12	66,915,526 (GRCm39)	missense	probably damaging	1.00
R2146:Mdga2	UTSW	12	66,915,515 (GRCm39)	missense	probably damaging	1.00
R2158:Mdga2	UTSW	12	66,736,155 (GRCm39)	missense	possibly damaging	0.64
R2189:Mdga2	UTSW	12	66,519,970 (GRCm39)	splice site	probably null
R2293:Mdga2	UTSW	12	66,615,759 (GRCm39)	nonsense	probably null
R2886:Mdga2	UTSW	12	66,553,044 (GRCm39)	splice site	probably benign
R2960:Mdga2	UTSW	12	66,676,752 (GRCm39)	nonsense	probably null
R3937:Mdga2	UTSW	12	67,267,980 (GRCm39)	unclassified	probably benign
R4437:Mdga2	UTSW	12	66,519,972 (GRCm39)	splice site	probably null
R4514:Mdga2	UTSW	12	66,763,496 (GRCm39)	missense	probably damaging	0.99
R4693:Mdga2	UTSW	12	66,844,407 (GRCm39)	missense	possibly damaging	0.81
R4719:Mdga2	UTSW	12	66,517,775 (GRCm39)	unclassified	probably benign
R4744:Mdga2	UTSW	12	66,844,501 (GRCm39)	missense	probably benign	0.01
R4756:Mdga2	UTSW	12	66,844,427 (GRCm39)	missense	probably damaging	1.00
R4781:Mdga2	UTSW	12	66,844,396 (GRCm39)	splice site	probably null
R5022:Mdga2	UTSW	12	66,517,534 (GRCm39)	missense	possibly damaging	0.83
R5108:Mdga2	UTSW	12	66,533,515 (GRCm39)	missense	probably benign	0.43
R5479:Mdga2	UTSW	12	66,701,950 (GRCm39)	missense	probably damaging	1.00
R5710:Mdga2	UTSW	12	66,553,556 (GRCm39)	missense	probably damaging	1.00
R5816:Mdga2	UTSW	12	66,701,956 (GRCm39)	missense	probably damaging	1.00
R5822:Mdga2	UTSW	12	66,702,109 (GRCm39)	missense	probably damaging	1.00
R5996:Mdga2	UTSW	12	66,844,537 (GRCm39)	missense	probably benign	0.00
R6038:Mdga2	UTSW	12	66,676,827 (GRCm39)	missense	probably damaging	1.00
R6038:Mdga2	UTSW	12	66,676,827 (GRCm39)	missense	probably damaging	1.00
R6297:Mdga2	UTSW	12	66,553,027 (GRCm39)	missense	probably damaging	1.00
R6484:Mdga2	UTSW	12	66,676,843 (GRCm39)	missense	possibly damaging	0.90
R6830:Mdga2	UTSW	12	66,769,775 (GRCm39)	missense	probably damaging	1.00
R6912:Mdga2	UTSW	12	66,552,889 (GRCm39)	missense	probably benign	0.01
R6971:Mdga2	UTSW	12	66,597,335 (GRCm39)	missense	probably damaging	1.00
R7053:Mdga2	UTSW	12	66,736,158 (GRCm39)	missense	probably benign	0.41
R7069:Mdga2	UTSW	12	66,533,526 (GRCm39)	missense	probably benign	0.31
R7381:Mdga2	UTSW	12	66,615,670 (GRCm39)	missense	probably benign	0.44
R7474:Mdga2	UTSW	12	66,533,535 (GRCm39)	nonsense	probably null
R7559:Mdga2	UTSW	12	66,520,003 (GRCm39)	missense	probably damaging	1.00
R7581:Mdga2	UTSW	12	66,553,029 (GRCm39)	missense	probably damaging	0.99
R7596:Mdga2	UTSW	12	66,552,897 (GRCm39)	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66,736,125 (GRCm39)	missense	possibly damaging	0.63
R7745:Mdga2	UTSW	12	66,736,124 (GRCm39)	missense	probably damaging	0.99
R7852:Mdga2	UTSW	12	66,517,724 (GRCm39)	missense	possibly damaging	0.66
R8144:Mdga2	UTSW	12	66,702,037 (GRCm39)	missense	probably damaging	1.00
R8319:Mdga2	UTSW	12	67,267,803 (GRCm39)	missense	unknown
R8715:Mdga2	UTSW	12	66,915,526 (GRCm39)	missense	probably damaging	1.00
R8977:Mdga2	UTSW	12	66,844,409 (GRCm39)	missense	possibly damaging	0.88
R9138:Mdga2	UTSW	12	66,615,663 (GRCm39)	missense	possibly damaging	0.89
R9177:Mdga2	UTSW	12	66,517,481 (GRCm39)	missense	possibly damaging	0.66
R9223:Mdga2	UTSW	12	66,615,634 (GRCm39)	missense	possibly damaging	0.81
R9248:Mdga2	UTSW	12	66,736,226 (GRCm39)	missense	possibly damaging	0.87
R9264:Mdga2	UTSW	12	66,560,057 (GRCm39)	missense	probably damaging	1.00
R9381:Mdga2	UTSW	12	66,597,304 (GRCm39)	missense	possibly damaging	0.64
R9456:Mdga2	UTSW	12	66,615,532 (GRCm39)	missense	probably benign	0.44
R9633:Mdga2	UTSW	12	66,736,206 (GRCm39)	missense	probably benign	0.00
Z1176:Mdga2	UTSW	12	66,736,217 (GRCm39)	missense	probably damaging	1.00
Z1186:Mdga2	UTSW	12	66,615,727 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16