Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02473:Mdga2'

294834

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 #

IGL02473

Quality Score

Status

Chromosome

Chromosomal Location

66512834-67269323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 66597385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 703 (E703G)

Ref Sequence

ENSEMBL: ENSMUSP00000046761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037181] [ENSMUST00000222167] [ENSMUST00000222623] [ENSMUST00000222987] [ENSMUST00000223141]

AlphaFold

P60755

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037181
AA Change: E703G

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: E703G

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

unknown
Transcript: ENSMUST00000178814
AA Change: E693G

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: E693G

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 benign
Transcript: ENSMUST00000222167
AA Change: E634G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

probably benign
Transcript: ENSMUST00000222623

Predicted Effect

probably benign
Transcript: ENSMUST00000222987

Predicted Effect

probably benign
Transcript: ENSMUST00000223141
AA Change: E634G

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730480H06Rik	G	A	5: 48,545,440 (GRCm39)		probably benign	Het
9030624G23Rik	A	G	12: 24,094,853 (GRCm39)	F106S	probably benign	Het
A930011G23Rik	T	C	5: 99,370,854 (GRCm39)	Y468C	probably damaging	Het
Abcd3	T	C	3: 121,562,893 (GRCm39)	T515A	possibly damaging	Het
Acrbp	A	G	6: 125,031,661 (GRCm39)	T321A	probably benign	Het
Aldh2	T	C	5: 121,710,141 (GRCm39)	Y398C	probably damaging	Het
Baz2b	T	A	2: 59,790,407 (GRCm39)	D602V	probably benign	Het
Ccdc191	T	C	16: 43,777,257 (GRCm39)	V714A	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Cntn2	A	G	1: 132,446,069 (GRCm39)	L839P	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp3a16	T	C	5: 145,377,304 (GRCm39)	I428V	possibly damaging	Het
Dnah7b	A	T	1: 46,273,353 (GRCm39)	T2494S	probably damaging	Het
Dnaja3	T	A	16: 4,519,104 (GRCm39)	Y348*	probably null	Het
Dnajb3	C	A	1: 88,133,104 (GRCm39)	E99D	probably benign	Het
Igf2bp3	A	G	6: 49,071,163 (GRCm39)	F411L	probably benign	Het
L3mbtl4	A	T	17: 68,866,772 (GRCm39)	Y337F	possibly damaging	Het
Lias	A	G	5: 65,562,745 (GRCm39)	T258A	possibly damaging	Het
Lipk	T	A	19: 34,016,548 (GRCm39)	C254S	probably damaging	Het
Map4k1	T	C	7: 28,699,297 (GRCm39)	L596S	probably damaging	Het
Mreg	A	G	1: 72,201,495 (GRCm39)	Y166H	probably damaging	Het
Or2f1b	A	G	6: 42,739,640 (GRCm39)	Y218C	probably damaging	Het
Or4b1b	T	C	2: 90,112,040 (GRCm39)	K293R	probably null	Het
Pcgf2	A	G	11: 97,582,747 (GRCm39)		probably benign	Het
Prdm15	T	C	16: 97,638,805 (GRCm39)		probably null	Het
Rnf111	A	G	9: 70,348,140 (GRCm39)	V810A	probably damaging	Het
Rpl23a-ps1	A	T	1: 46,020,951 (GRCm39)		noncoding transcript	Het
Smc3	C	A	19: 53,624,879 (GRCm39)	A779E	probably benign	Het
Smtn	C	T	11: 3,482,463 (GRCm39)	G140D	probably damaging	Het
Son	T	C	16: 91,455,683 (GRCm39)	S1477P	probably damaging	Het
Strn	T	C	17: 78,991,722 (GRCm39)	D20G	possibly damaging	Het
Tektl1	A	T	10: 78,586,428 (GRCm39)	S208T	probably benign	Het
Tnxb	T	C	17: 34,936,736 (GRCm39)	L2798P	probably damaging	Het
Ttn	A	C	2: 76,775,896 (GRCm39)	N1715K	probably damaging	Het
Vps33a	A	T	5: 123,707,634 (GRCm39)	I111N	probably damaging	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het
Zscan4d	A	T	7: 10,896,336 (GRCm39)	C345S	probably benign	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
IGL02230:Mdga2	APN	12	66,702,197 (GRCm39)	nonsense	probably null
IGL02348:Mdga2	APN	12	66,597,349 (GRCm39)	missense	probably damaging	1.00
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