Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02348:Mdga2'

289384

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 #

IGL02348

Quality Score

Status

Chromosome

Chromosomal Location

66512834-67269323 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 66597349 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 715 (N715I)

Ref Sequence

ENSEMBL: ENSMUSP00000046761 (fasta)

Gene Model

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

AlphaFold

P60755

Predicted Effect

probably damaging
Transcript: ENSMUST00000037181
AA Change: N715I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046761
Gene: ENSMUSG00000034912
AA Change: N715I

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: N705I

SMART Domains

Protein: ENSMUSP00000137608
Gene: ENSMUSG00000034912
AA Change: N705I

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 damaging
Transcript: ENSMUST00000222167
AA Change: N646I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000222623

Predicted Effect

probably benign
Transcript: ENSMUST00000222987

Predicted Effect

probably damaging
Transcript: ENSMUST00000223141
AA Change: N646I

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap12	G	A	10: 4,304,722 (GRCm39)	D511N	probably damaging	Het
Akt3	T	A	1: 176,886,952 (GRCm39)	D299V	probably damaging	Het
Arfgef3	G	A	10: 18,467,095 (GRCm39)	P2035L	probably benign	Het
Atp13a3	C	T	16: 30,170,046 (GRCm39)		probably null	Het
Capn9	C	A	8: 125,321,416 (GRCm39)	P151T	probably damaging	Het
Csrnp1	T	A	9: 119,801,709 (GRCm39)	D450V	probably damaging	Het
Ctrb1	C	T	8: 112,413,762 (GRCm39)	A201T	possibly damaging	Het
Erp27	T	C	6: 136,888,544 (GRCm39)	T145A	probably damaging	Het
Fads2b	T	C	2: 85,323,640 (GRCm39)	I298V	possibly damaging	Het
Fanca	A	T	8: 124,032,002 (GRCm39)	L256Q	probably damaging	Het
Fars2	G	A	13: 36,721,354 (GRCm39)	V433I	probably benign	Het
Fbxo9	T	A	9: 78,016,289 (GRCm39)	M1L	probably benign	Het
Fcnb	C	A	2: 27,974,842 (GRCm39)	V10F	possibly damaging	Het
Gad2	C	T	2: 22,519,405 (GRCm39)	H175Y	probably damaging	Het
Get4	G	A	5: 139,238,254 (GRCm39)	G12D	probably benign	Het
Gmpr2	T	A	14: 55,915,758 (GRCm39)	I312N	probably damaging	Het
Golm1	T	A	13: 59,786,191 (GRCm39)	M334L	probably benign	Het
Itgam	T	A	7: 127,715,472 (GRCm39)	F1054L	possibly damaging	Het
Kcnk7	C	A	19: 5,756,501 (GRCm39)		probably benign	Het
Kif3b	G	A	2: 153,158,813 (GRCm39)	A205T	probably damaging	Het
Macf1	C	T	4: 123,406,659 (GRCm39)	V276M	probably damaging	Het
Mfap5	T	A	6: 122,503,746 (GRCm39)	S103R	possibly damaging	Het
Nckap1	C	T	2: 80,348,326 (GRCm39)	V876M	probably damaging	Het
Ncor1	A	T	11: 62,224,485 (GRCm39)		probably benign	Het
Nfya	G	A	17: 48,700,304 (GRCm39)	Q122*	probably null	Het
Nup210l	G	A	3: 90,011,471 (GRCm39)		probably benign	Het
Or5h22	T	G	16: 58,895,312 (GRCm39)	I44L	probably damaging	Het
Pcdhb19	T	A	18: 37,631,861 (GRCm39)	L552Q	probably damaging	Het
Psmd2	T	A	16: 20,473,397 (GRCm39)	S153T	probably benign	Het
Ptpn4	T	C	1: 119,610,452 (GRCm39)	Y685C	probably damaging	Het
Rad54l2	T	C	9: 106,597,575 (GRCm39)	R144G	probably damaging	Het
S1pr4	A	C	10: 81,334,855 (GRCm39)	Y206*	probably null	Het
Slc39a14	A	G	14: 70,553,885 (GRCm39)		probably null	Het
Stx2	G	A	5: 129,065,894 (GRCm39)	A254V	probably damaging	Het
Sumf2	G	T	5: 129,888,711 (GRCm39)	G216C	probably damaging	Het
Tbc1d32	A	G	10: 56,100,715 (GRCm39)	S88P	probably benign	Het
Trem1	T	A	17: 48,539,824 (GRCm39)	M1K	probably null	Het
Trmt1l	T	C	1: 151,325,757 (GRCm39)	Y401H	probably damaging	Het
Ttc22	A	T	4: 106,480,135 (GRCm39)	M130L	probably damaging	Het
Wnk1	T	C	6: 119,940,289 (GRCm39)	E816G	probably damaging	Het
Wnt9b	C	T	11: 103,622,908 (GRCm39)	G165D	probably damaging	Het
Zscan21	A	G	5: 138,131,645 (GRCm39)	T390A	probably damaging	Het
Zswim7	G	T	11: 62,159,581 (GRCm39)	C85*	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
IGL02230:Mdga2	APN	12	66,702,197 (GRCm39)	nonsense	probably null
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