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

Adp, 6720489L24Rik, Mamdc1, 9330209L04Rik, Mdga2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02230

Quality Score

Status

Chromosome

Chromosomal Location

66466060-67222549 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 66655423 bp (GRCm38)

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: 80,171,830 (GRCm38)	T727S	probably benign	Het
Cyp4a12b	A	T	4: 115,433,996 (GRCm38)	I374F	probably damaging	Het
Ecel1	T	C	1: 87,152,194 (GRCm38)	N399S	probably damaging	Het
Fpr-rs3	T	C	17: 20,623,928 (GRCm38)	E317G	probably damaging	Het
Gm10030	T	A	9: 111,006,390 (GRCm38)		noncoding transcript	Het
Gm4884	A	T	7: 41,043,405 (GRCm38)	Q266L	probably damaging	Het
Gpr45	C	A	1: 43,032,656 (GRCm38)	A153E	probably damaging	Het
Hc	A	G	2: 35,013,670 (GRCm38)	F991L	probably benign	Het
Hif1a	T	G	12: 73,932,450 (GRCm38)	D249E	probably damaging	Het
Hsd17b12	A	G	2: 94,045,398 (GRCm38)	L194P	possibly damaging	Het
Hspg2	T	C	4: 137,518,645 (GRCm38)	S947P	probably damaging	Het
Kng1	G	T	16: 23,060,494 (GRCm38)		probably null	Het
Lpp	C	T	16: 24,762,145 (GRCm38)	R204W	probably damaging	Het
Lrrc4	T	A	6: 28,830,880 (GRCm38)	K245N	probably damaging	Het
Naa16	A	T	14: 79,377,361 (GRCm38)		probably benign	Het
Ncbp1	C	A	4: 46,165,272 (GRCm38)	N528K	probably benign	Het
Olfr57	T	A	10: 79,035,042 (GRCm38)	M82K	probably damaging	Het
Olfr714	A	G	7: 107,074,493 (GRCm38)	I222V	probably damaging	Het
Pipox	A	G	11: 77,881,206 (GRCm38)	L364P	probably damaging	Het
R3hdm4	C	A	10: 79,912,091 (GRCm38)	A206S	probably damaging	Het
Rasgrf2	A	G	13: 91,988,026 (GRCm38)	I589T	probably damaging	Het
Ror2	C	T	13: 53,110,728 (GRCm38)	S764N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,354 (GRCm38)	E24G	probably damaging	Het
Sec24a	T	C	11: 51,709,034 (GRCm38)	I815V	possibly damaging	Het
Serpina16	A	G	12: 103,675,302 (GRCm38)	Y55H	probably damaging	Het
Sirt2	C	T	7: 28,778,946 (GRCm38)	R83C	probably damaging	Het
Sntg1	A	T	1: 8,681,971 (GRCm38)		probably null	Het
Stmn1	A	G	4: 134,472,913 (GRCm38)	E99G	probably damaging	Het
Tas2r103	T	C	6: 133,037,056 (GRCm38)	I16V	possibly damaging	Het
Vit	A	G	17: 78,619,627 (GRCm38)	K334E	probably damaging	Het
Washc4	T	C	10: 83,581,369 (GRCm38)	I876T	probably benign	Het
Wrn	A	T	8: 33,317,563 (GRCm38)	V289D	probably damaging	Het
Zfp318	C	T	17: 46,396,810 (GRCm38)	R265*	probably null	Het

Other mutations in Mdga2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01343:Mdga2	APN	12	66,723,109 (GRCm38)	missense	probably damaging	0.97
IGL01632:Mdga2	APN	12	66,629,898 (GRCm38)	splice site	probably benign
IGL01843:Mdga2	APN	12	66,723,131 (GRCm38)	critical splice acceptor site	probably null
IGL02348:Mdga2	APN	12	66,550,575 (GRCm38)	missense	probably damaging	1.00
IGL02473:Mdga2	APN	12	66,550,611 (GRCm38)	missense	possibly damaging	0.73
IGL02795:Mdga2	APN	12	66,689,432 (GRCm38)	missense	probably benign	0.00
IGL02901:Mdga2	APN	12	66,797,809 (GRCm38)	splice site	probably benign
IGL03373:Mdga2	APN	12	66,716,722 (GRCm38)	missense	probably damaging	0.99
PIT4362001:Mdga2	UTSW	12	66,797,768 (GRCm38)	missense	possibly damaging	0.83
PIT4377001:Mdga2	UTSW	12	66,716,695 (GRCm38)	missense	probably damaging	0.99
R0106:Mdga2	UTSW	12	66,716,706 (GRCm38)	missense	probably damaging	1.00
R0106:Mdga2	UTSW	12	66,716,706 (GRCm38)	missense	probably damaging	1.00
R0110:Mdga2	UTSW	12	66,470,926 (GRCm38)	missense	possibly damaging	0.66
R0218:Mdga2	UTSW	12	66,655,120 (GRCm38)	missense	probably damaging	1.00
R0450:Mdga2	UTSW	12	66,470,926 (GRCm38)	missense	possibly damaging	0.66
R0801:Mdga2	UTSW	12	66,486,733 (GRCm38)	missense	probably damaging	1.00
R0847:Mdga2	UTSW	12	66,723,080 (GRCm38)	missense	probably damaging	1.00
R1056:Mdga2	UTSW	12	66,723,120 (GRCm38)	missense	probably damaging	0.97
R1086:Mdga2	UTSW	12	66,506,102 (GRCm38)	splice site	probably benign
R1335:Mdga2	UTSW	12	66,716,742 (GRCm38)	splice site	probably null
R1382:Mdga2	UTSW	12	66,470,916 (GRCm38)	missense	possibly damaging	0.68
R1490:Mdga2	UTSW	12	66,797,756 (GRCm38)	missense	probably benign	0.01
R1521:Mdga2	UTSW	12	66,568,926 (GRCm38)	missense	probably benign	0.00
R1556:Mdga2	UTSW	12	66,550,593 (GRCm38)	missense	possibly damaging	0.92
R1676:Mdga2	UTSW	12	66,568,773 (GRCm38)	nonsense	probably null
R1676:Mdga2	UTSW	12	66,568,772 (GRCm38)	missense	probably damaging	1.00
R1698:Mdga2	UTSW	12	66,689,335 (GRCm38)	missense	probably damaging	0.97
R1954:Mdga2	UTSW	12	66,486,708 (GRCm38)	splice site	probably benign
R2069:Mdga2	UTSW	12	66,568,917 (GRCm38)	nonsense	probably null
R2077:Mdga2	UTSW	12	66,655,362 (GRCm38)	missense	probably damaging	1.00
R2118:Mdga2	UTSW	12	66,868,752 (GRCm38)	missense	probably damaging	1.00
R2146:Mdga2	UTSW	12	66,868,741 (GRCm38)	missense	probably damaging	1.00
R2158:Mdga2	UTSW	12	66,689,381 (GRCm38)	missense	possibly damaging	0.64
R2189:Mdga2	UTSW	12	66,473,196 (GRCm38)	splice site	probably null
R2293:Mdga2	UTSW	12	66,568,985 (GRCm38)	nonsense	probably null
R2886:Mdga2	UTSW	12	66,506,270 (GRCm38)	splice site	probably benign
R2960:Mdga2	UTSW	12	66,629,978 (GRCm38)	nonsense	probably null
R3937:Mdga2	UTSW	12	67,221,206 (GRCm38)	unclassified	probably benign
R4437:Mdga2	UTSW	12	66,473,198 (GRCm38)	splice site	probably null
R4514:Mdga2	UTSW	12	66,716,722 (GRCm38)	missense	probably damaging	0.99
R4693:Mdga2	UTSW	12	66,797,633 (GRCm38)	missense	possibly damaging	0.81
R4719:Mdga2	UTSW	12	66,471,001 (GRCm38)	unclassified	probably benign
R4744:Mdga2	UTSW	12	66,797,727 (GRCm38)	missense	probably benign	0.01
R4756:Mdga2	UTSW	12	66,797,653 (GRCm38)	missense	probably damaging	1.00
R4781:Mdga2	UTSW	12	66,797,622 (GRCm38)	splice site	probably null
R5022:Mdga2	UTSW	12	66,470,760 (GRCm38)	missense	possibly damaging	0.83
R5108:Mdga2	UTSW	12	66,486,741 (GRCm38)	missense	probably benign	0.43
R5479:Mdga2	UTSW	12	66,655,176 (GRCm38)	missense	probably damaging	1.00
R5710:Mdga2	UTSW	12	66,506,782 (GRCm38)	missense	probably damaging	1.00
R5816:Mdga2	UTSW	12	66,655,182 (GRCm38)	missense	probably damaging	1.00
R5822:Mdga2	UTSW	12	66,655,335 (GRCm38)	missense	probably damaging	1.00
R5996:Mdga2	UTSW	12	66,797,763 (GRCm38)	missense	probably benign	0.00
R6038:Mdga2	UTSW	12	66,630,053 (GRCm38)	missense	probably damaging	1.00
R6038:Mdga2	UTSW	12	66,630,053 (GRCm38)	missense	probably damaging	1.00
R6297:Mdga2	UTSW	12	66,506,253 (GRCm38)	missense	probably damaging	1.00
R6484:Mdga2	UTSW	12	66,630,069 (GRCm38)	missense	possibly damaging	0.90
R6830:Mdga2	UTSW	12	66,723,001 (GRCm38)	missense	probably damaging	1.00
R6912:Mdga2	UTSW	12	66,506,115 (GRCm38)	missense	probably benign	0.01
R6971:Mdga2	UTSW	12	66,550,561 (GRCm38)	missense	probably damaging	1.00
R7053:Mdga2	UTSW	12	66,689,384 (GRCm38)	missense	probably benign	0.41
R7069:Mdga2	UTSW	12	66,486,752 (GRCm38)	missense	probably benign	0.31
R7381:Mdga2	UTSW	12	66,568,896 (GRCm38)	missense	probably benign	0.44
R7474:Mdga2	UTSW	12	66,486,761 (GRCm38)	nonsense	probably null
R7559:Mdga2	UTSW	12	66,473,229 (GRCm38)	missense	probably damaging	1.00
R7581:Mdga2	UTSW	12	66,506,255 (GRCm38)	missense	probably damaging	0.99
R7596:Mdga2	UTSW	12	66,506,123 (GRCm38)	missense	probably damaging	0.99
R7745:Mdga2	UTSW	12	66,689,351 (GRCm38)	missense	possibly damaging	0.63
R7745:Mdga2	UTSW	12	66,689,350 (GRCm38)	missense	probably damaging	0.99
R7852:Mdga2	UTSW	12	66,470,950 (GRCm38)	missense	possibly damaging	0.66
R8144:Mdga2	UTSW	12	66,655,263 (GRCm38)	missense	probably damaging	1.00
R8319:Mdga2	UTSW	12	67,221,029 (GRCm38)	missense	unknown
R8715:Mdga2	UTSW	12	66,868,752 (GRCm38)	missense	probably damaging	1.00
R8977:Mdga2	UTSW	12	66,797,635 (GRCm38)	missense	possibly damaging	0.88
R9138:Mdga2	UTSW	12	66,568,889 (GRCm38)	missense	possibly damaging	0.89
R9177:Mdga2	UTSW	12	66,470,707 (GRCm38)	missense	possibly damaging	0.66
R9223:Mdga2	UTSW	12	66,568,860 (GRCm38)	missense	possibly damaging	0.81
R9248:Mdga2	UTSW	12	66,689,452 (GRCm38)	missense	possibly damaging	0.87
R9264:Mdga2	UTSW	12	66,513,283 (GRCm38)	missense	probably damaging	1.00
R9381:Mdga2	UTSW	12	66,550,530 (GRCm38)	missense	possibly damaging	0.64
R9456:Mdga2	UTSW	12	66,568,758 (GRCm38)	missense	probably benign	0.44
R9633:Mdga2	UTSW	12	66,689,432 (GRCm38)	missense	probably benign	0.00
Z1176:Mdga2	UTSW	12	66,689,443 (GRCm38)	missense	probably damaging	1.00
Z1186:Mdga2	UTSW	12	66,568,953 (GRCm38)	missense	possibly damaging	0.90

Posted On

2015-04-16