Mutagenetix > Incidental Mutation

Incidental Mutation 'R4829:Mdga1'

372709

Institutional Source

Beutler Lab

Gene Symbol

Mdga1

Ensembl Gene

ENSMUSG00000043557

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 1

Synonyms

Mamdc3, 1200011I03Rik

MMRRC Submission

042445-MU

Accession Numbers

Essential gene?

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

Stock #

R4829 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30046930-30107557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30065343 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 696 (S696P)

Ref Sequence

ENSEMBL: ENSMUSP00000130395 (fasta)

Gene Model

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

AlphaFold

Q0PMG2

Predicted Effect

probably benign
Transcript: ENSMUST00000073556
AA Change: S422P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: S422P

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: ENSMUST00000165528

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167102

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167190
AA Change: S696P

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: S696P

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 benign
Transcript: ENSMUST00000171691
AA Change: S422P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: S422P

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

98% (109/111)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,774,780 (GRCm39)	V1323A	probably damaging	Het
Abcb1a	T	C	5: 8,773,214 (GRCm39)	L814P	probably damaging	Het
Acat1	C	A	9: 53,502,756 (GRCm39)	G191V	probably damaging	Het
Acsbg3	A	G	17: 57,190,500 (GRCm39)		probably null	Het
Adamts20	A	T	15: 94,224,277 (GRCm39)	D1184E	probably benign	Het
Adss1	T	C	12: 112,601,147 (GRCm39)	L283P	probably damaging	Het
Arid4a	A	G	12: 71,070,272 (GRCm39)		probably null	Het
Arid4b	T	A	13: 14,359,023 (GRCm39)	D599E	probably benign	Het
AW146154	T	C	7: 41,130,057 (GRCm39)	K353R	possibly damaging	Het
Axdnd1	G	T	1: 156,204,216 (GRCm39)	R547S	possibly damaging	Het
Bcat1	A	T	6: 144,961,201 (GRCm39)	F134Y	probably damaging	Het
Camk2d	C	A	3: 126,573,646 (GRCm39)		probably benign	Het
Catsperg2	T	G	7: 29,400,550 (GRCm39)	K268T	probably damaging	Het
Ccar1	A	C	10: 62,581,114 (GRCm39)	F1103L	unknown	Het
Ccdc141	T	A	2: 76,905,260 (GRCm39)	E395D	probably damaging	Het
Cdc37l1	A	G	19: 28,967,983 (GRCm39)	T16A	probably benign	Het
Cdca2	T	A	14: 67,931,202 (GRCm39)		probably null	Het
Cfap96	T	C	8: 46,420,952 (GRCm39)	I159V	probably damaging	Het
Cntn5	T	G	9: 9,976,288 (GRCm39)	K219Q	probably damaging	Het
Col23a1	C	A	11: 51,448,413 (GRCm39)	A202E	unknown	Het
Csmd1	G	A	8: 16,177,310 (GRCm39)	L1318F	probably damaging	Het
Csnk1g3	C	T	18: 54,028,895 (GRCm39)	A16V	possibly damaging	Het
Cspg4b	A	G	13: 113,504,696 (GRCm39)	I1942V	probably benign	Het
Dab2	A	G	15: 6,454,162 (GRCm39)	D224G	probably damaging	Het
Ddr1	A	T	17: 35,996,005 (GRCm39)	C625S	probably damaging	Het
Dennd4a	T	C	9: 64,796,338 (GRCm39)	V788A	probably damaging	Het
Dgcr2	T	C	16: 17,660,617 (GRCm39)	E402G	possibly damaging	Het
Dhcr7	T	G	7: 143,391,654 (GRCm39)	I81S	probably damaging	Het
Exd1	C	T	2: 119,350,807 (GRCm39)	A485T	probably benign	Het
Fat1	C	T	8: 45,489,199 (GRCm39)	T3467I	probably damaging	Het
Fblim1	T	C	4: 141,312,020 (GRCm39)	E235G	probably damaging	Het
Fbxo38	T	A	18: 62,651,662 (GRCm39)	M548L	probably benign	Het
Fstl5	T	C	3: 76,229,489 (GRCm39)	Y97H	probably damaging	Het
Glb1l	A	T	1: 75,176,994 (GRCm39)	S481T	probably damaging	Het
Gp2	A	T	7: 119,056,407 (GRCm39)	V22E	possibly damaging	Het
Grin1	A	G	2: 25,208,736 (GRCm39)	S55P	possibly damaging	Het
Herc2	A	G	7: 55,756,240 (GRCm39)	D760G	probably benign	Het
Hpn	A	G	7: 30,798,300 (GRCm39)		probably benign	Het
Hsf2	T	C	10: 57,372,266 (GRCm39)	V73A	probably damaging	Het
Ighv1-42	T	C	12: 114,900,788 (GRCm39)	Y80C	probably benign	Het
Ighv1-64	T	C	12: 115,471,346 (GRCm39)	K57R	probably benign	Het
Klc1	T	C	12: 111,762,037 (GRCm39)	I569T	probably damaging	Het
Klra3	T	G	6: 130,300,579 (GRCm39)	K263N	probably benign	Het
Lrcol1	C	A	5: 110,502,393 (GRCm39)	H90N	probably benign	Het
Mamdc4	T	C	2: 25,455,368 (GRCm39)	E921G	possibly damaging	Het
Mark1	G	A	1: 184,637,724 (GRCm39)	R622W	possibly damaging	Het
Mmp1b	C	T	9: 7,370,729 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtnr1a	T	C	8: 45,538,652 (GRCm39)		probably benign	Het
Myo5a	T	C	9: 75,043,689 (GRCm39)	I226T	probably damaging	Het
Ncoa6	G	T	2: 155,257,147 (GRCm39)	P799T	probably damaging	Het
Npc1l1	C	T	11: 6,164,010 (GRCm39)		probably null	Het
Nxph3	T	C	11: 95,402,321 (GRCm39)	E31G	probably benign	Het
Obscn	T	C	11: 58,945,072 (GRCm39)	I4649V	probably null	Het
Or10d4b	A	T	9: 39,534,734 (GRCm39)	H103L	probably damaging	Het
Or8b12b	G	T	9: 37,684,243 (GRCm39)	C96F	probably damaging	Het
Or8g35	A	T	9: 39,381,663 (GRCm39)	Y120N	probably damaging	Het
Or8h10	G	A	2: 86,808,918 (GRCm39)	S74L	probably damaging	Het
P3h3	G	A	6: 124,818,601 (GRCm39)		probably benign	Het
Pcnx2	A	T	8: 126,587,797 (GRCm39)		probably null	Het
Pirb	C	T	7: 3,720,602 (GRCm39)	G299S	probably benign	Het
Pla2g4d	A	G	2: 120,097,224 (GRCm39)	S792P	probably damaging	Het
Plppr4	A	T	3: 117,129,240 (GRCm39)	L76M	possibly damaging	Het
Ppp2r3d	A	T	9: 101,089,709 (GRCm39)	S205T	possibly damaging	Het
Prkdc	G	A	16: 15,519,939 (GRCm39)	D1126N	possibly damaging	Het
Prrt4	G	A	6: 29,177,181 (GRCm39)	S196L	probably benign	Het
Ptpn21	A	C	12: 98,655,555 (GRCm39)	S471A	probably damaging	Het
Ptprk	C	A	10: 28,456,480 (GRCm39)	S9*	probably null	Het
Rassf4	A	T	6: 116,622,103 (GRCm39)	I163K	possibly damaging	Het
Rgs22	C	A	15: 36,104,034 (GRCm39)	R142S	probably damaging	Het
Rit2	C	A	18: 31,345,726 (GRCm39)	L73F	probably damaging	Het
Rrbp1	A	C	2: 143,831,607 (GRCm39)	S187A	probably benign	Het
Rspo2	A	T	15: 42,956,583 (GRCm39)	Y83*	probably null	Het
Scn5a	C	T	9: 119,363,773 (GRCm39)	V456M	probably benign	Het
Scn9a	T	A	2: 66,382,057 (GRCm39)	H290L	probably benign	Het
Smarca4	T	C	9: 21,550,623 (GRCm39)	I452T	probably damaging	Het
Smc2	T	A	4: 52,449,612 (GRCm39)	I198K	probably damaging	Het
Smim14	G	A	5: 65,617,946 (GRCm39)		probably benign	Het
Spg11	A	C	2: 121,938,936 (GRCm39)	N339K	probably benign	Het
Spta1	A	G	1: 174,065,493 (GRCm39)	E2014G	probably benign	Het
Stk4	T	C	2: 163,941,747 (GRCm39)		probably null	Het
Sypl1	C	T	12: 33,017,645 (GRCm39)	T121M	probably damaging	Het
Tas2r120	T	A	6: 132,634,331 (GRCm39)	F138I	probably benign	Het
Tcstv4	G	A	13: 120,769,926 (GRCm39)	C82Y	possibly damaging	Het
Tet2	A	C	3: 133,182,381 (GRCm39)	C1194W	possibly damaging	Het
Tex29	T	C	8: 11,905,668 (GRCm39)		probably benign	Het
Tnfrsf22	T	A	7: 143,197,067 (GRCm39)	T91S	possibly damaging	Het
Tnik	A	T	3: 28,593,690 (GRCm39)		probably benign	Het
Tnr	A	T	1: 159,685,974 (GRCm39)	I402F	probably benign	Het
Unc93b1	A	T	19: 3,994,293 (GRCm39)	S475C	probably damaging	Het
Utrn	T	A	10: 12,539,205 (GRCm39)	E1937D	probably benign	Het
Vmn1r227	A	T	17: 20,955,927 (GRCm39)		noncoding transcript	Het
Vmn2r101	G	A	17: 19,832,229 (GRCm39)	V742I	probably benign	Het
Vmn2r81	T	C	10: 79,083,635 (GRCm39)	L3P	possibly damaging	Het
Zfp882	T	G	8: 72,668,233 (GRCm39)	H353Q	probably 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
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
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'- AAACAAATGGTGTCCTCCTCCC -3'
(R):5'- CAGGACCTGAAGCTGTCATG -3'

Sequencing Primer
(F):5'- CTCTAGACGCCCATTTGCAAATTG -3'
(R):5'- ACCTGAAGCTGTCATGCCATG -3'

Posted On

2016-03-01