Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02130:Mdga1'

281015

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mdga1

Ensembl Gene

ENSMUSG00000043557

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 1

Synonyms

Mamdc3, 1200011I03Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

IGL02130

Quality Score

Status

Chromosome

Chromosomal Location

30046930-30107557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30076643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 43 (I43T)

Ref Sequence

ENSEMBL: ENSMUSP00000073246 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073556] [ENSMUST00000165211] [ENSMUST00000167190] [ENSMUST00000171691]

AlphaFold

Q0PMG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073556
AA Change: I43T

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: I43T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	51	115	1.62e-12	SMART
IG	142	236	3.2e-2	SMART
IGc2	253	315	6.25e-14	SMART
IGc2	348	422	3.54e-4	SMART
IGc2	454	521	6.55e-8	SMART
IGc2	551	623	9.49e-5	SMART
FN3	642	731	2.05e0	SMART
MAM	741	911	1.02e-52	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165211
AA Change: I43T

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000132583
Gene: ENSMUSG00000043557
AA Change: I43T

Domain	Start	End	E-Value	Type
low complexity region	11	21	N/A	INTRINSIC
IGc2	51	115	1.62e-12	SMART
IG_like	148	221	6.07e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167102

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167190
AA Change: I317T

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: I317T

Domain	Start	End	E-Value	Type
low complexity region	236	246	N/A	INTRINSIC
low complexity region	251	265	N/A	INTRINSIC
IGc2	325	389	1.62e-12	SMART
IG	416	510	3.2e-2	SMART
IGc2	527	589	6.25e-14	SMART
IGc2	622	696	3.54e-4	SMART
IGc2	728	795	6.55e-8	SMART
IGc2	825	897	9.49e-5	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171691
AA Change: I43T

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: I43T

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
IGc2	51	115	1.62e-12	SMART
IG	142	236	3.2e-2	SMART
IGc2	253	315	6.25e-14	SMART
IGc2	348	422	3.54e-4	SMART
IGc2	454	521	6.55e-8	SMART
IGc2	551	623	9.49e-5	SMART
FN3	642	731	2.05e0	SMART
MAM	749	919	3.61e-53	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that is expressed predominantly in the developing nervous system. In addition to possessing several cell adhesion molecule-like domains, the mature protein has six Ig-like domains, a single fibronectin type III domain, a MAM domain and a C-terminal GPI-anchoring site. Studies in other mammals suggest this protein plays a role in cell adhesion, migration, and axon guidance and, in the developing brain, neuronal migration. In humans, this gene is associated with bipolar disorder and schizophrenia. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuronal migration during corticogenesis that is resolved by P7 [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l1	A	T	12: 33,392,141 (GRCm39)	K239M	probably damaging	Het
Cep164	T	C	9: 45,691,090 (GRCm39)	E1230G	possibly damaging	Het
Fas	A	G	19: 34,292,695 (GRCm39)	T101A	probably benign	Het
Fcnb	A	G	2: 27,974,801 (GRCm39)		probably null	Het
Gm14325	A	G	2: 177,476,445 (GRCm39)		probably benign	Het
Gm4877	A	T	6: 42,496,991 (GRCm39)		noncoding transcript	Het
Heyl	T	C	4: 123,140,064 (GRCm39)	S208P	probably benign	Het
Ighv10-3	A	T	12: 114,487,121 (GRCm39)	L100H	probably damaging	Het
Irs1	T	C	1: 82,267,188 (GRCm39)	S343G	probably damaging	Het
Lrriq4	T	A	3: 30,704,896 (GRCm39)	V293E	probably damaging	Het
Mbd3l1	A	T	9: 18,396,023 (GRCm39)	R49S	probably damaging	Het
N4bp3	T	C	11: 51,534,773 (GRCm39)	E430G	possibly damaging	Het
Olfml3	A	G	3: 103,644,283 (GRCm39)	Y129H	probably benign	Het
Or4c125	C	A	2: 89,169,927 (GRCm39)	V240F	probably damaging	Het
Or8b12i	A	G	9: 20,082,654 (GRCm39)	I71T	probably damaging	Het
Prex2	T	C	1: 11,183,023 (GRCm39)	V424A	probably damaging	Het
Prex2	T	A	1: 11,230,386 (GRCm39)	V804E	probably damaging	Het
Rnf103	T	C	6: 71,486,548 (GRCm39)	L393S	probably damaging	Het
Rnf20	T	C	4: 49,644,481 (GRCm39)		probably benign	Het
Slc25a16	A	G	10: 62,780,137 (GRCm39)	I299V	probably benign	Het
Tmprss2	A	T	16: 97,392,089 (GRCm39)	C5S	probably damaging	Het
Trpv3	A	C	11: 73,170,596 (GRCm39)	M159L	probably benign	Het
Vmn2r45	A	T	7: 8,486,556 (GRCm39)	M244K	possibly damaging	Het

Other mutations in Mdga1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01576:Mdga1	APN	17	30,062,101 (GRCm39)	missense	possibly damaging	0.50
IGL01637:Mdga1	APN	17	30,058,845 (GRCm39)	missense	probably damaging	1.00
IGL02596:Mdga1	APN	17	30,051,379 (GRCm39)	splice site	probably benign
IGL03258:Mdga1	APN	17	30,058,887 (GRCm39)	missense	probably damaging	1.00
R0184:Mdga1	UTSW	17	30,071,416 (GRCm39)	missense	probably damaging	1.00
R0366:Mdga1	UTSW	17	30,076,682 (GRCm39)	missense	possibly damaging	0.85
R1017:Mdga1	UTSW	17	30,069,522 (GRCm39)	missense	probably damaging	0.98
R1520:Mdga1	UTSW	17	30,065,493 (GRCm39)	missense	probably benign	0.12
R1545:Mdga1	UTSW	17	30,061,876 (GRCm39)	missense	probably damaging	1.00
R1549:Mdga1	UTSW	17	30,056,972 (GRCm39)	missense	probably damaging	1.00
R1671:Mdga1	UTSW	17	30,069,603 (GRCm39)	missense	probably damaging	1.00
R1875:Mdga1	UTSW	17	30,071,581 (GRCm39)	missense	probably damaging	1.00
R1893:Mdga1	UTSW	17	30,068,200 (GRCm39)	missense	probably damaging	1.00
R1958:Mdga1	UTSW	17	30,059,862 (GRCm39)	missense	probably damaging	1.00
R1983:Mdga1	UTSW	17	30,069,579 (GRCm39)	missense	probably damaging	1.00
R2014:Mdga1	UTSW	17	30,068,287 (GRCm39)	missense	probably damaging	1.00
R2894:Mdga1	UTSW	17	30,071,478 (GRCm39)	missense	probably damaging	1.00
R2964:Mdga1	UTSW	17	30,071,442 (GRCm39)	missense	probably damaging	1.00
R3813:Mdga1	UTSW	17	30,057,453 (GRCm39)	missense	probably damaging	1.00
R3938:Mdga1	UTSW	17	30,076,596 (GRCm39)	missense	probably damaging	1.00
R3982:Mdga1	UTSW	17	30,150,238 (GRCm39)	missense	unknown
R4063:Mdga1	UTSW	17	30,057,005 (GRCm39)	missense	probably damaging	1.00
R4157:Mdga1	UTSW	17	30,052,317 (GRCm39)	missense	probably benign	0.32
R4183:Mdga1	UTSW	17	30,188,964 (GRCm39)	missense	unknown
R4392:Mdga1	UTSW	17	30,069,630 (GRCm39)	missense	probably damaging	1.00
R4393:Mdga1	UTSW	17	30,069,491 (GRCm39)	missense	probably damaging	1.00
R4396:Mdga1	UTSW	17	30,069,491 (GRCm39)	missense	probably damaging	1.00
R4806:Mdga1	UTSW	17	30,061,128 (GRCm39)	missense	probably benign	0.20
R4829:Mdga1	UTSW	17	30,065,343 (GRCm39)	missense	possibly damaging	0.91
R4923:Mdga1	UTSW	17	30,057,052 (GRCm39)	missense	probably damaging	0.99
R4932:Mdga1	UTSW	17	30,076,580 (GRCm39)	missense	probably damaging	1.00
R5015:Mdga1	UTSW	17	30,058,847 (GRCm39)	missense	possibly damaging	0.71
R5076:Mdga1	UTSW	17	30,069,528 (GRCm39)	missense	possibly damaging	0.93
R5141:Mdga1	UTSW	17	30,071,467 (GRCm39)	missense	probably benign	0.43
R5180:Mdga1	UTSW	17	30,076,710 (GRCm39)	splice site	probably benign
R5590:Mdga1	UTSW	17	30,058,841 (GRCm39)	missense	probably damaging	1.00
R5747:Mdga1	UTSW	17	30,069,525 (GRCm39)	missense	probably benign	0.11
R5748:Mdga1	UTSW	17	30,069,525 (GRCm39)	missense	probably benign	0.11
R6207:Mdga1	UTSW	17	30,057,491 (GRCm39)	missense	probably damaging	1.00
R6826:Mdga1	UTSW	17	30,189,000 (GRCm39)	missense	unknown
R6831:Mdga1	UTSW	17	30,106,490 (GRCm39)	nonsense	probably null
R7114:Mdga1	UTSW	17	30,061,816 (GRCm39)	splice site	probably null
R7147:Mdga1	UTSW	17	30,065,495 (GRCm39)	nonsense	probably null
R7273:Mdga1	UTSW	17	30,188,912 (GRCm39)	missense	unknown
R7413:Mdga1	UTSW	17	30,069,647 (GRCm39)	missense	probably damaging	1.00
R7637:Mdga1	UTSW	17	30,051,353 (GRCm39)	missense	probably benign	0.00
R7797:Mdga1	UTSW	17	30,061,814 (GRCm39)	splice site	probably null
R7812:Mdga1	UTSW	17	30,062,115 (GRCm39)	missense	probably benign	0.02
R7838:Mdga1	UTSW	17	30,058,796 (GRCm39)	missense	probably benign	0.10
R8463:Mdga1	UTSW	17	30,068,703 (GRCm39)	missense	probably damaging	1.00
R8697:Mdga1	UTSW	17	30,065,615 (GRCm39)	missense	probably damaging	0.97
R8699:Mdga1	UTSW	17	30,061,348 (GRCm39)	missense	possibly damaging	0.87
R8864:Mdga1	UTSW	17	30,150,295 (GRCm39)	missense	unknown
R8945:Mdga1	UTSW	17	30,058,959 (GRCm39)	splice site	probably benign
R9150:Mdga1	UTSW	17	30,057,420 (GRCm39)	missense	probably damaging	0.98
R9157:Mdga1	UTSW	17	30,057,491 (GRCm39)	missense	probably damaging	1.00
R9294:Mdga1	UTSW	17	30,058,871 (GRCm39)	missense	probably damaging	1.00
R9301:Mdga1	UTSW	17	30,069,512 (GRCm39)	missense	probably benign	0.31
R9367:Mdga1	UTSW	17	30,051,282 (GRCm39)	makesense	probably null
R9567:Mdga1	UTSW	17	30,076,569 (GRCm39)	missense	probably damaging	1.00
R9665:Mdga1	UTSW	17	30,051,991 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16