Mutagenetix > Incidental Mutation

Incidental Mutation 'R2014:Mdga1'

222673

Institutional Source

Beutler Lab

Gene Symbol

Mdga1

Ensembl Gene

ENSMUSG00000043557

Gene Name

MAM domain containing glycosylphosphatidylinositol anchor 1

Synonyms

Mamdc3, 1200011I03Rik

MMRRC Submission

040023-MU

Accession Numbers

Essential gene?

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

Stock #

R2014 (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 30068287 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 276 (S276P)

Ref Sequence

ENSEMBL: ENSMUSP00000073246 (fasta)

Gene Model

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

AlphaFold

Q0PMG2

Predicted Effect

probably damaging
Transcript: ENSMUST00000073556
AA Change: S276P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073246
Gene: ENSMUSG00000043557
AA Change: S276P

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 damaging
Transcript: ENSMUST00000167190
AA Change: S550P

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

SMART Domains

Protein: ENSMUSP00000130395
Gene: ENSMUSG00000043557
AA Change: S550P

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: S276P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000126529
Gene: ENSMUSG00000043557
AA Change: S276P

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

0.1684

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

96% (105/109)

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	G	17: 48,347,723 (GRCm39)	T194P	possibly damaging	Het
Aadacl4fm5	A	T	4: 144,506,295 (GRCm39)	L132Q	probably damaging	Het
Acsbg2	T	A	17: 57,160,855 (GRCm39)	K263M	possibly damaging	Het
Adcy8	C	T	15: 64,639,727 (GRCm39)	G678S	probably benign	Het
Adgrl2	C	T	3: 148,532,111 (GRCm39)	G1041R	probably damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Aire	T	C	10: 77,878,792 (GRCm39)	D85G	probably damaging	Het
Alkbh8	C	T	9: 3,343,216 (GRCm39)	Q36*	probably null	Het
Amer3	T	C	1: 34,618,525 (GRCm39)		probably benign	Het
Angptl8	T	C	9: 21,748,358 (GRCm39)		probably null	Het
Ankmy1	T	C	1: 92,812,863 (GRCm39)	D482G	probably benign	Het
Apc	A	G	18: 34,448,644 (GRCm39)	I1813V	probably damaging	Het
Asb13	T	G	13: 3,699,512 (GRCm39)		probably null	Het
Blm	T	C	7: 80,152,147 (GRCm39)	E600G	probably damaging	Het
Cd163	G	T	6: 124,302,457 (GRCm39)	W1007L	probably damaging	Het
Cdr1	A	G	X: 60,228,420 (GRCm39)	F249L	probably benign	Het
Cp	A	G	3: 20,041,598 (GRCm39)	K44E	probably benign	Het
Crtap	C	A	9: 114,210,653 (GRCm39)		probably null	Het
Ctsk	A	G	3: 95,414,003 (GRCm39)	D250G	probably damaging	Het
Dcp2	T	C	18: 44,543,363 (GRCm39)	V307A	probably benign	Het
Dnah6	T	A	6: 73,150,402 (GRCm39)	D787V	probably damaging	Het
Dtx3l	G	A	16: 35,756,797 (GRCm39)	H129Y	probably benign	Het
Ece2	A	G	16: 20,461,067 (GRCm39)	T442A	probably benign	Het
Espl1	C	T	15: 102,231,149 (GRCm39)	R17*	probably null	Het
Espn	G	T	4: 152,217,416 (GRCm39)		probably null	Het
Fam20b	C	T	1: 156,533,511 (GRCm39)	R35Q	possibly damaging	Het
Fga	A	G	3: 82,940,064 (GRCm39)	I573V	probably damaging	Het
Fmo5	A	G	3: 97,542,998 (GRCm39)	K103E	possibly damaging	Het
Frem1	A	T	4: 82,924,089 (GRCm39)	V291D	probably damaging	Het
Gabbr1	A	G	17: 37,367,674 (GRCm39)		probably null	Het
Gjb6	T	C	14: 57,362,213 (GRCm39)	H16R	probably damaging	Het
Grina	T	C	15: 76,132,734 (GRCm39)	V167A	probably damaging	Het
Gulo	T	A	14: 66,246,496 (GRCm39)	M1L	probably benign	Het
Hcfc2	A	G	10: 82,574,814 (GRCm39)	N618D	probably benign	Het
Heatr5b	T	C	17: 79,121,613 (GRCm39)	D704G	probably damaging	Het
Hlcs	A	G	16: 94,063,599 (GRCm39)	V487A	probably benign	Het
Hps1	G	A	19: 42,750,951 (GRCm39)	P350S	probably benign	Het
Hspa9	A	T	18: 35,079,701 (GRCm39)	Y243N	probably damaging	Het
Igll1	A	G	16: 16,681,639 (GRCm39)	S39P	probably benign	Het
Kif21b	T	C	1: 136,076,020 (GRCm39)	F270L	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Krt27	A	G	11: 99,240,318 (GRCm39)	V200A	probably benign	Het
Lama3	T	C	18: 12,657,778 (GRCm39)		probably benign	Het
Lmcd1	T	C	6: 112,305,702 (GRCm39)	W268R	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Mamdc4	T	A	2: 25,453,584 (GRCm39)	D1195V	probably damaging	Het
Map2	T	C	1: 66,455,295 (GRCm39)	V1395A	possibly damaging	Het
Map3k20	C	T	2: 72,268,604 (GRCm39)	T537M	probably benign	Het
Mep1a	T	C	17: 43,808,797 (GRCm39)	N85D	probably benign	Het
Mettl16	A	G	11: 74,708,195 (GRCm39)	S425G	probably benign	Het
Mthfd1l	A	G	10: 3,997,894 (GRCm39)	T622A	probably benign	Het
Nbeal2	G	A	9: 110,463,139 (GRCm39)	L1309F	probably benign	Het
Nde1	A	T	16: 13,987,321 (GRCm39)		probably benign	Het
Nhsl1	A	T	10: 18,387,340 (GRCm39)	R205W	probably damaging	Het
Nlrc5	A	G	8: 95,252,138 (GRCm39)		probably benign	Het
Notch3	C	A	17: 32,376,974 (GRCm39)	E310D	probably benign	Het
Or2f1	A	G	6: 42,721,784 (GRCm39)	E271G	probably damaging	Het
Or4p19	T	C	2: 88,242,388 (GRCm39)	T205A	probably benign	Het
Or5ak24	T	A	2: 85,260,696 (GRCm39)	H159L	possibly damaging	Het
Or7a39	T	C	10: 78,715,222 (GRCm39)	I72T	possibly damaging	Het
Osbpl5	C	A	7: 143,295,429 (GRCm39)	C11F	probably damaging	Het
P4hb	T	C	11: 120,453,522 (GRCm39)	E381G	probably damaging	Het
Pax4	A	G	6: 28,446,209 (GRCm39)	Y95H	probably benign	Het
Pdia3	T	C	2: 121,265,301 (GRCm39)	V390A	probably damaging	Het
Pigv	A	C	4: 133,390,034 (GRCm39)	D49E	possibly damaging	Het
Pik3c2a	T	A	7: 115,950,166 (GRCm39)		probably null	Het
Plxnb1	T	A	9: 108,935,687 (GRCm39)		probably benign	Het
Polq	A	G	16: 36,898,728 (GRCm39)	T2163A	probably damaging	Het
Pou5f2	T	C	13: 78,173,972 (GRCm39)	S305P	probably benign	Het
Ppm1h	A	T	10: 122,756,630 (GRCm39)	H425L	possibly damaging	Het
Ppp1r13b	G	T	12: 111,800,222 (GRCm39)	D518E	probably benign	Het
Prf1	A	T	10: 61,139,674 (GRCm39)	D544V	probably benign	Het
Prl3b1	T	C	13: 27,431,948 (GRCm39)	F158L	probably benign	Het
Prss41	C	T	17: 24,056,464 (GRCm39)		probably null	Het
Prune2	T	G	19: 17,097,887 (GRCm39)	N1130K	probably damaging	Het
Ptgdr2	T	C	19: 10,917,789 (GRCm39)	F102S	probably damaging	Het
Ptprq	T	G	10: 107,503,283 (GRCm39)	K792Q	probably damaging	Het
Pttg1ip2	T	A	5: 5,505,964 (GRCm39)	I106L	probably benign	Het
Rcbtb2	T	C	14: 73,411,826 (GRCm39)		probably benign	Het
Rgs14	C	A	13: 55,531,513 (GRCm39)	S479*	probably null	Het
Sash1	A	T	10: 8,605,177 (GRCm39)	V1071D	probably benign	Het
Sdsl	G	A	5: 120,601,218 (GRCm39)	T18M	probably damaging	Het
Sepsecs	T	A	5: 52,804,966 (GRCm39)	Q365L	probably benign	Het
Sh2d4a	A	T	8: 68,783,735 (GRCm39)	Q223L	probably damaging	Het
Slc14a2	T	C	18: 78,193,601 (GRCm39)		probably benign	Het
Slc5a9	A	C	4: 111,753,546 (GRCm39)	S52A	possibly damaging	Het
Slc6a18	C	A	13: 73,823,844 (GRCm39)	V99L	probably benign	Het
Smarca2	T	C	19: 26,661,305 (GRCm39)	S967P	possibly damaging	Het
Tbc1d22a	C	T	15: 86,183,885 (GRCm39)	T248M	probably damaging	Het
Tcte1	A	T	17: 45,852,237 (GRCm39)	N490I	probably benign	Het
Tet3	T	C	6: 83,363,057 (GRCm39)	E705G	probably damaging	Het
Tfeb	T	A	17: 48,102,484 (GRCm39)	H450Q	probably damaging	Het
Tmem248	G	A	5: 130,260,653 (GRCm39)	E73K	probably damaging	Het
Trip12	A	T	1: 84,738,587 (GRCm39)	L756*	probably null	Het
Try5	C	T	6: 41,291,585 (GRCm39)		probably null	Het
Tsc1	A	T	2: 28,555,649 (GRCm39)		probably benign	Het
Tspear	G	A	10: 77,710,954 (GRCm39)		probably benign	Het
Ttc6	T	C	12: 57,623,003 (GRCm39)	I134T	possibly damaging	Het
Ttn	T	A	2: 76,585,640 (GRCm39)		probably null	Het
Ube3b	A	G	5: 114,549,210 (GRCm39)	E738G	probably damaging	Het
Usp36	T	C	11: 118,153,334 (GRCm39)		probably benign	Het
Vmn2r71	T	A	7: 85,269,845 (GRCm39)	M452K	probably benign	Het
Vps13b	T	C	15: 35,607,288 (GRCm39)	S1074P	probably damaging	Het
Vps13d	A	G	4: 144,835,078 (GRCm39)	S2757P	probably damaging	Het
Vwde	C	A	6: 13,208,337 (GRCm39)	G182C	possibly damaging	Het
Wdr33	T	C	18: 31,966,652 (GRCm39)	V164A	probably damaging	Het
Zkscan16	A	G	4: 58,956,525 (GRCm39)	Y269C	possibly damaging	Het
Zup1	A	G	10: 33,805,820 (GRCm39)	V437A	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
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
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'- AAGAGATGGTTCCCTCTCCC -3'
(R):5'- CCCTCTCATTTAGCCCTGGAAG -3'

Sequencing Primer
(F):5'- AGGGATCCTGTTTGTCCCAGTAC -3'
(R):5'- ATTTAGCCCTGGAAGTCTCCTGAG -3'

Posted On

2014-08-25