Mutagenetix > Incidental Mutation

Incidental Mutation 'R1893:Mdga1'

211754

Institutional Source

Beutler Lab

Gene Symbol

Mdga1

Ensembl Gene

ENSMUSG00000043557

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 1

Synonyms

Mamdc3, 1200011I03Rik

MMRRC Submission

039913-MU

Accession Numbers

Essential gene?

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

Stock #

R1893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30046930-30107557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30068200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 305 (Y305N)

Ref Sequence

ENSEMBL: ENSMUSP00000126529 (fasta)

Gene Model

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

AlphaFold

Q0PMG2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073556
AA Change: Y305N

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

SMART Domains

Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: Y305N

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

SMART Domains

Protein: ENSMUSP00000132583
Gene: ENSMUSG00000043557

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

probably benign
Transcript: ENSMUST00000167190
AA Change: Y579N

PolyPhen 2 Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: Y579N

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

probably damaging
Transcript: ENSMUST00000171691
AA Change: Y305N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: Y305N

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

Meta Mutation Damage Score

0.0965

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

99% (99/100)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,415,928 (GRCm39)	Y674H	possibly damaging	Het
Aars2	G	A	17: 45,825,725 (GRCm39)	R347Q	probably benign	Het
Abca15	A	T	7: 119,939,776 (GRCm39)	M293L	possibly damaging	Het
Abcb7	A	T	X: 103,386,142 (GRCm39)	H97Q	probably damaging	Het
Aldh1l2	G	T	10: 83,328,400 (GRCm39)	N772K	probably damaging	Het
Ascc2	T	A	11: 4,622,305 (GRCm39)	L457Q	probably benign	Het
Aspm	T	A	1: 139,407,605 (GRCm39)	I2164N	probably damaging	Het
Cabs1	A	G	5: 88,127,894 (GRCm39)	T182A	probably benign	Het
Carmil1	T	C	13: 24,208,446 (GRCm39)	E833G	possibly damaging	Het
Ccdc102a	G	A	8: 95,640,171 (GRCm39)	T41M	probably damaging	Het
Cimap1c	A	G	9: 56,756,498 (GRCm39)	Y173H	probably benign	Het
Clec2h	T	C	6: 128,647,795 (GRCm39)	V48A	probably benign	Het
Cpb2	G	A	14: 75,493,403 (GRCm39)	V27I	probably benign	Het
Cr2	T	C	1: 194,837,495 (GRCm39)	H1201R	probably benign	Het
Cyp2d9	T	C	15: 82,336,807 (GRCm39)	V52A	probably damaging	Het
Cyp4a12a	C	A	4: 115,183,864 (GRCm39)	N223K	probably benign	Het
Cyp7b1	G	A	3: 18,150,731 (GRCm39)	S336L	possibly damaging	Het
Dnah10	T	C	5: 124,831,381 (GRCm39)	V803A	probably benign	Het
Dnah17	T	A	11: 117,957,794 (GRCm39)	T2745S	probably benign	Het
Ep300	T	A	15: 81,515,847 (GRCm39)		probably benign	Het
Epha3	A	G	16: 63,388,762 (GRCm39)	S829P	probably damaging	Het
Fads3	C	A	19: 10,033,868 (GRCm39)	H418N	probably benign	Het
Fat1	T	C	8: 45,476,893 (GRCm39)	S1980P	probably damaging	Het
Fgf20	T	C	8: 40,732,844 (GRCm39)	E198G	possibly damaging	Het
Fgl2	G	A	5: 21,580,669 (GRCm39)	R337H	probably benign	Het
Gbp2	G	T	3: 142,335,933 (GRCm39)		probably benign	Het
Gja10	G	A	4: 32,601,541 (GRCm39)	S281L	probably benign	Het
Gm5422	G	A	10: 31,125,609 (GRCm39)		noncoding transcript	Het
Gmpr	T	A	13: 45,674,423 (GRCm39)	D129E	possibly damaging	Het
Gtf3c4	C	T	2: 28,724,374 (GRCm39)	V453I	possibly damaging	Het
Heatr6	T	C	11: 83,648,140 (GRCm39)	V111A	probably benign	Het
Hipk3	G	A	2: 104,263,601 (GRCm39)	R905W	probably damaging	Het
Hpn	T	A	7: 30,798,773 (GRCm39)	D103V	probably damaging	Het
Ipcef1	G	A	10: 6,850,680 (GRCm39)	R304W	probably damaging	Het
Iqcb1	A	G	16: 36,652,245 (GRCm39)	D52G	probably damaging	Het
Klhdc7b	C	T	15: 89,271,898 (GRCm39)		probably null	Het
Klhl1	A	T	14: 96,477,642 (GRCm39)		probably null	Het
Lrrn1	A	T	6: 107,545,083 (GRCm39)	I294F	possibly damaging	Het
Map3k1	A	T	13: 111,904,567 (GRCm39)	F406I	possibly damaging	Het
Map4k4	T	A	1: 40,040,717 (GRCm39)	V579E	probably benign	Het
Mapre2	A	G	18: 23,986,774 (GRCm39)	K62R	probably damaging	Het
Mgl2	T	A	11: 70,024,993 (GRCm39)		probably null	Het
Mnx1	C	T	5: 29,682,828 (GRCm39)	G149D	unknown	Het
Mtbp	T	A	15: 55,421,064 (GRCm39)	S17T	probably benign	Het
Neu3	T	C	7: 99,472,627 (GRCm39)	T37A	possibly damaging	Het
Nr1i3	T	C	1: 171,044,792 (GRCm39)		probably null	Het
Or10al2	A	T	17: 37,983,747 (GRCm39)	K278*	probably null	Het
Or10g6	A	T	9: 39,934,270 (GRCm39)	I194F	possibly damaging	Het
Or6ae1	T	C	7: 139,742,734 (GRCm39)	N43S	probably damaging	Het
Or9s18	T	A	13: 65,300,806 (GRCm39)	M256K	possibly damaging	Het
Osr2	A	G	15: 35,300,608 (GRCm39)	T55A	possibly damaging	Het
Palld	A	G	8: 61,969,655 (GRCm39)	V981A	probably damaging	Het
Pbx1	A	T	1: 168,030,979 (GRCm39)	M213K	possibly damaging	Het
Pcdhb12	C	A	18: 37,570,136 (GRCm39)	H427Q	probably benign	Het
Perm1	C	T	4: 156,302,340 (GRCm39)	R295C	probably benign	Het
Phaf1	G	T	8: 105,973,133 (GRCm39)	V248F	probably damaging	Het
Polm	T	C	11: 5,785,574 (GRCm39)	T162A	possibly damaging	Het
Prox1	A	G	1: 189,892,715 (GRCm39)		probably benign	Het
Ptpn7	A	T	1: 135,062,641 (GRCm39)	T127S	probably benign	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rab21	T	C	10: 115,126,805 (GRCm39)	T181A	probably benign	Het
Rab38	A	T	7: 88,139,924 (GRCm39)	T198S	probably benign	Het
Rnase4	C	G	14: 51,342,395 (GRCm39)	Q40E	possibly damaging	Het
Rnf213	T	A	11: 119,307,274 (GRCm39)	W645R	probably damaging	Het
Rnf8	A	G	17: 29,840,524 (GRCm39)	I51M	probably damaging	Het
Sbpl	T	A	17: 24,172,241 (GRCm39)	D226V	unknown	Het
Sdf4	T	G	4: 156,085,205 (GRCm39)	I180S	probably benign	Het
Simc1	A	G	13: 54,687,528 (GRCm39)	K99R	probably damaging	Het
Slc2a4	T	C	11: 69,837,398 (GRCm39)	Q49R	probably damaging	Het
Slco1a4	T	C	6: 141,780,342 (GRCm39)		probably null	Het
Slco5a1	C	A	1: 12,964,696 (GRCm39)	C527F	probably damaging	Het
Sox6	T	A	7: 115,143,803 (GRCm39)	N405I	probably benign	Het
Sphkap	G	A	1: 83,256,687 (GRCm39)	P354L	probably benign	Het
Spi1	A	G	2: 90,944,702 (GRCm39)	D149G	probably benign	Het
Sptan1	T	A	2: 29,910,472 (GRCm39)	D1812E	probably damaging	Het
Sub1	A	T	15: 11,991,130 (GRCm39)	V37E	possibly damaging	Het
Sult2a6	T	C	7: 13,959,814 (GRCm39)	T240A	probably benign	Het
Tacc2	A	G	7: 130,227,055 (GRCm39)	S1247G	probably benign	Het
Taf4	T	C	2: 179,574,823 (GRCm39)	D594G	probably damaging	Het
Tap1	T	G	17: 34,413,915 (GRCm39)	D643E	probably damaging	Het
Ticam1	T	C	17: 56,578,894 (GRCm39)	N67S	probably benign	Het
Tlr6	A	G	5: 65,110,556 (GRCm39)	F784L	probably damaging	Het
Tmprss15	A	G	16: 78,868,306 (GRCm39)	V202A	probably benign	Het
Trp53bp2	T	C	1: 182,259,193 (GRCm39)	V82A	probably benign	Het
Ube2o	C	T	11: 116,439,661 (GRCm39)	V170I	possibly damaging	Het
Ube2q2l	A	G	6: 136,378,825 (GRCm39)	S2P	possibly damaging	Het
Vmn1r177	G	A	7: 23,565,573 (GRCm39)	T101I	probably benign	Het
Vmn2r68	A	T	7: 84,883,867 (GRCm39)	Y79*	probably null	Het
Wdr35	A	C	12: 9,035,994 (GRCm39)	Y255S	probably benign	Het
Zfp507	A	T	7: 35,502,052 (GRCm39)		probably benign	Het
Zfp688	G	A	7: 127,018,409 (GRCm39)	R239C	probably damaging	Het
Zfp74	T	A	7: 29,635,470 (GRCm39)		probably null	Het
Zfp932	A	G	5: 110,157,069 (GRCm39)	N223D	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
IGL02130:Mdga1	APN	17	30,076,643 (GRCm39)	missense	possibly damaging	0.96
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
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

Predicted Primers

PCR Primer
(F):5'- ATTGCTGAATTGCAGGGAAATCG -3'
(R):5'- ACGAAACTCTGGTGGTGAAC -3'

Sequencing Primer
(F):5'- AAATCGGAGTGCCTGGGC -3'
(R):5'- ACCCTGGGGAGAACGTGAC -3'

Posted On

2014-06-30