Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03303:Mga'

416288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mga

Ensembl Gene

ENSMUSG00000033943

Gene Name

MAX gene associated

Synonyms

D030062C11Rik, Mga, Mad5, C130042M01Rik

Accession Numbers

Ncbi RefSeq: NM_013720.2, NM_001164274.1; MGI: 1352483

Essential gene?

Probably essential (E-score: 0.955) question?

Stock #

IGL03303

Quality Score

Status

Chromosome

Chromosomal Location

119897228-119969581 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119903452 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 260 (D260E)

Ref Sequence

ENSEMBL: ENSMUSP00000106401 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046717] [ENSMUST00000079934] [ENSMUST00000110773] [ENSMUST00000110774] [ENSMUST00000156510]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000046717
AA Change: D260E

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000043795
Gene: ENSMUSG00000033943
AA Change: D260E

Domain	Start	End	E-Value	Type
Blast:TBOX	6	73	6e-27	BLAST
TBOX	74	265	2.34e-100	SMART
low complexity region	969	978	N/A	INTRINSIC
low complexity region	1017	1031	N/A	INTRINSIC
low complexity region	1112	1138	N/A	INTRINSIC
low complexity region	1248	1269	N/A	INTRINSIC
low complexity region	1301	1315	N/A	INTRINSIC
low complexity region	1564	1581	N/A	INTRINSIC
low complexity region	1634	1649	N/A	INTRINSIC
low complexity region	1681	1716	N/A	INTRINSIC
low complexity region	1796	1818	N/A	INTRINSIC
low complexity region	1833	1850	N/A	INTRINSIC
low complexity region	1977	1992	N/A	INTRINSIC
low complexity region	2183	2197	N/A	INTRINSIC
low complexity region	2241	2259	N/A	INTRINSIC
HLH	2368	2419	8.27e-7	SMART
low complexity region	2748	2769	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079934
AA Change: D260E

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943
AA Change: D260E

Domain	Start	End	E-Value	Type
Blast:TBOX	6	73	5e-27	BLAST
TBOX	74	265	2.34e-100	SMART
low complexity region	969	978	N/A	INTRINSIC
low complexity region	1017	1031	N/A	INTRINSIC
low complexity region	1112	1138	N/A	INTRINSIC
low complexity region	1247	1268	N/A	INTRINSIC
low complexity region	1300	1314	N/A	INTRINSIC
low complexity region	1626	1648	N/A	INTRINSIC
low complexity region	1663	1680	N/A	INTRINSIC
low complexity region	1807	1822	N/A	INTRINSIC
low complexity region	2013	2027	N/A	INTRINSIC
low complexity region	2071	2089	N/A	INTRINSIC
HLH	2198	2249	8.27e-7	SMART
low complexity region	2578	2599	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110773
AA Change: D260E

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943
AA Change: D260E

Domain	Start	End	E-Value	Type
Blast:TBOX	6	73	5e-27	BLAST
TBOX	74	265	2.34e-100	SMART
low complexity region	890	899	N/A	INTRINSIC
low complexity region	938	952	N/A	INTRINSIC
low complexity region	1033	1059	N/A	INTRINSIC
low complexity region	1169	1190	N/A	INTRINSIC
low complexity region	1222	1236	N/A	INTRINSIC
low complexity region	1485	1502	N/A	INTRINSIC
low complexity region	1555	1570	N/A	INTRINSIC
low complexity region	1602	1637	N/A	INTRINSIC
low complexity region	1717	1739	N/A	INTRINSIC
low complexity region	1754	1771	N/A	INTRINSIC
low complexity region	1898	1913	N/A	INTRINSIC
low complexity region	2104	2118	N/A	INTRINSIC
low complexity region	2162	2180	N/A	INTRINSIC
HLH	2289	2340	8.27e-7	SMART
low complexity region	2669	2690	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000110774
AA Change: D260E

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

SMART Domains

Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943
AA Change: D260E

Domain	Start	End	E-Value	Type
Blast:TBOX	6	73	7e-27	BLAST
TBOX	74	265	2.34e-100	SMART
low complexity region	969	978	N/A	INTRINSIC
low complexity region	1017	1031	N/A	INTRINSIC
Pfam:DUF4801	1037	1085	1e-19	PFAM
low complexity region	1112	1138	N/A	INTRINSIC
low complexity region	1248	1269	N/A	INTRINSIC
low complexity region	1301	1315	N/A	INTRINSIC
low complexity region	1564	1581	N/A	INTRINSIC
low complexity region	1634	1649	N/A	INTRINSIC
low complexity region	1681	1716	N/A	INTRINSIC
low complexity region	1835	1857	N/A	INTRINSIC
low complexity region	1872	1889	N/A	INTRINSIC
low complexity region	2016	2031	N/A	INTRINSIC
low complexity region	2222	2236	N/A	INTRINSIC
low complexity region	2280	2298	N/A	INTRINSIC
HLH	2407	2458	8.27e-7	SMART
low complexity region	2787	2808	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129405

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141776

Predicted Effect

probably benign
Transcript: ENSMUST00000156510
AA Change: D260E

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119044
Gene: ENSMUSG00000033943
AA Change: D260E

Domain	Start	End	E-Value	Type
Blast:TBOX	6	73	4e-27	BLAST
TBOX	74	265	2.34e-100	SMART
low complexity region	969	978	N/A	INTRINSIC
low complexity region	1017	1031	N/A	INTRINSIC
low complexity region	1112	1138	N/A	INTRINSIC
low complexity region	1247	1268	N/A	INTRINSIC
low complexity region	1300	1314	N/A	INTRINSIC
low complexity region	1626	1648	N/A	INTRINSIC
low complexity region	1663	1680	N/A	INTRINSIC
low complexity region	1807	1822	N/A	INTRINSIC
low complexity region	2013	2027	N/A	INTRINSIC
low complexity region	2071	2089	N/A	INTRINSIC
HLH	2198	2249	8.27e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Embryos homozygous for a gene trap allele die shortly after implantation due to defective development of the inner cell mass (ICM) and the epiblast. ICM derivatives fail to develop past E4.5 and show increased apoptosis but no change in cell proliferation. [provided by MGI curators]

Allele List at MGI

All alleles(135) : Gene trapped(135)

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	G	3: 36,870,077 (GRCm38)	E17G	possibly damaging	Het
A2m	T	A	6: 121,667,163 (GRCm38)	V940E	probably damaging	Het
Agap1	T	A	1: 89,665,152 (GRCm38)	V307D	probably damaging	Het
Amd1	A	G	10: 40,290,125 (GRCm38)	V286A	possibly damaging	Het
Chrne	T	C	11: 70,615,100 (GRCm38)	K453R	possibly damaging	Het
Ckm	T	A	7: 19,414,338 (GRCm38)		probably benign	Het
Ckmt1	A	G	2: 121,360,005 (GRCm38)	T138A	probably benign	Het
Cldn4	A	G	5: 134,946,249 (GRCm38)	V166A	possibly damaging	Het
Dclre1a	T	C	19: 56,546,766 (GRCm38)	T129A	possibly damaging	Het
Dlgap2	T	A	8: 14,727,812 (GRCm38)	D352E	probably damaging	Het
Dnmt1	A	G	9: 20,926,710 (GRCm38)	I236T	probably benign	Het
Enam	G	T	5: 88,504,591 (GRCm38)	V1320L	probably benign	Het
Ezh1	A	C	11: 101,195,671 (GRCm38)		probably null	Het
F13b	A	T	1: 139,513,036 (GRCm38)	D410V	possibly damaging	Het
Fcrl6	A	T	1: 172,597,688 (GRCm38)	Y259N	probably damaging	Het
Fpr-rs7	A	T	17: 20,113,739 (GRCm38)	F163Y	possibly damaging	Het
Gpihbp1	C	T	15: 75,597,978 (GRCm38)	Q181*	probably null	Het
Htr2b	T	C	1: 86,099,339 (GRCm38)		probably benign	Het
Igkv1-35	A	G	6: 70,011,651 (GRCm38)	I8T	probably benign	Het
Kcnq2	T	C	2: 181,082,389 (GRCm38)	T584A	probably benign	Het
Khdrbs3	A	G	15: 69,024,823 (GRCm38)	T111A	probably benign	Het
Krtap29-1	A	T	11: 99,978,843 (GRCm38)	C71S	probably benign	Het
Lrrc4c	A	T	2: 97,629,592 (GRCm38)	I188F	probably damaging	Het
Med1	G	T	11: 98,158,352 (GRCm38)	N539K	probably damaging	Het
Mnd1	A	G	3: 84,104,937 (GRCm38)	I155T	probably benign	Het
Msrb3	T	C	10: 120,784,141 (GRCm38)	D91G	probably benign	Het
Mycbp2	A	T	14: 103,247,758 (GRCm38)	D1102E	probably damaging	Het
Nfx1	T	A	4: 41,004,323 (GRCm38)		probably benign	Het
Nrsn2	T	C	2: 152,374,211 (GRCm38)	D24G	possibly damaging	Het
Olfr1262	A	T	2: 90,002,466 (GRCm38)	K20I	possibly damaging	Het
Osmr	T	A	15: 6,842,808 (GRCm38)	R268S	probably benign	Het
Pelo	C	A	13: 115,088,661 (GRCm38)	V343L	probably damaging	Het
Rp1	T	A	1: 4,344,817 (GRCm38)	N2024I	probably damaging	Het
Rps6ka2	C	T	17: 7,228,012 (GRCm38)	Q33*	probably null	Het
Slfn2	G	A	11: 83,069,467 (GRCm38)	V91I	possibly damaging	Het
Socs6	G	T	18: 88,869,744 (GRCm38)	A349E	probably damaging	Het
Syt2	A	G	1: 134,741,911 (GRCm38)	N97D	probably benign	Het
Tas2r123	T	A	6: 132,847,438 (GRCm38)	H99Q	probably damaging	Het
Tmc3	A	G	7: 83,590,725 (GRCm38)		probably benign	Het
Ube2s	A	T	7: 4,810,477 (GRCm38)	V35D	probably damaging	Het
Usp32	A	T	11: 85,022,832 (GRCm38)	V891D	probably damaging	Het
Vmn1r169	A	T	7: 23,578,009 (GRCm38)	E275D	probably benign	Het
Vps13c	A	G	9: 67,934,504 (GRCm38)	H1936R	probably benign	Het
Wrap73	C	A	4: 154,146,543 (GRCm38)	A92E	probably damaging	Het
Zfhx4	C	T	3: 5,403,350 (GRCm38)	T2856M	probably damaging	Het
Zmym1	A	T	4: 127,049,134 (GRCm38)	I487N	probably damaging	Het

Other mutations in Mga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Mga	APN	2	119,919,814 (GRCm38)	missense	possibly damaging	0.65
IGL00719:Mga	APN	2	119,947,453 (GRCm38)	nonsense	probably null
IGL01619:Mga	APN	2	119,931,828 (GRCm38)	missense	possibly damaging	0.46
IGL01721:Mga	APN	2	119,935,239 (GRCm38)	missense	probably damaging	1.00
IGL01759:Mga	APN	2	119,951,195 (GRCm38)	missense	possibly damaging	0.92
IGL01785:Mga	APN	2	119,902,912 (GRCm38)	missense	probably damaging	1.00
IGL01786:Mga	APN	2	119,902,912 (GRCm38)	missense	probably damaging	1.00
IGL01950:Mga	APN	2	119,941,654 (GRCm38)	missense	possibly damaging	0.60
IGL01960:Mga	APN	2	119,938,657 (GRCm38)	missense	probably damaging	1.00
IGL02086:Mga	APN	2	119,924,036 (GRCm38)	missense	probably damaging	0.99
IGL02364:Mga	APN	2	119,964,054 (GRCm38)	missense	possibly damaging	0.66
IGL02602:Mga	APN	2	119,931,884 (GRCm38)	missense	possibly damaging	0.66
IGL02751:Mga	APN	2	119,947,770 (GRCm38)	missense	possibly damaging	0.82
IGL02794:Mga	APN	2	119,946,289 (GRCm38)	missense	possibly damaging	0.84
IGL03247:Mga	APN	2	119,935,513 (GRCm38)	missense	possibly damaging	0.81
PIT4515001:Mga	UTSW	2	119,916,504 (GRCm38)	missense	probably damaging	1.00
R0060:Mga	UTSW	2	119,960,961 (GRCm38)	critical splice donor site	probably null
R0060:Mga	UTSW	2	119,960,961 (GRCm38)	critical splice donor site	probably null
R0417:Mga	UTSW	2	119,902,790 (GRCm38)	missense	probably damaging	0.99
R0449:Mga	UTSW	2	119,941,381 (GRCm38)	missense	probably damaging	1.00
R0457:Mga	UTSW	2	119,916,488 (GRCm38)	missense	probably damaging	0.98
R0538:Mga	UTSW	2	119,919,706 (GRCm38)	critical splice donor site	probably null
R0568:Mga	UTSW	2	119,935,422 (GRCm38)	missense	probably damaging	1.00
R0614:Mga	UTSW	2	119,964,466 (GRCm38)	missense	probably damaging	1.00
R0671:Mga	UTSW	2	119,919,910 (GRCm38)	splice site	probably null
R0811:Mga	UTSW	2	119,947,961 (GRCm38)	missense	probably damaging	0.99
R0812:Mga	UTSW	2	119,947,961 (GRCm38)	missense	probably damaging	0.99
R0948:Mga	UTSW	2	119,941,659 (GRCm38)	missense	possibly damaging	0.77
R1177:Mga	UTSW	2	119,926,446 (GRCm38)	missense	probably damaging	1.00
R1445:Mga	UTSW	2	119,902,698 (GRCm38)	missense	probably damaging	1.00
R1476:Mga	UTSW	2	119,941,675 (GRCm38)	missense	probably damaging	0.96
R1527:Mga	UTSW	2	119,916,597 (GRCm38)	missense	probably damaging	1.00
R1583:Mga	UTSW	2	119,963,960 (GRCm38)	missense	possibly damaging	0.66
R1592:Mga	UTSW	2	119,964,666 (GRCm38)	missense	possibly damaging	0.93
R1627:Mga	UTSW	2	119,964,562 (GRCm38)	missense	probably damaging	1.00
R1658:Mga	UTSW	2	119,941,689 (GRCm38)	missense	possibly damaging	0.63
R1677:Mga	UTSW	2	119,960,852 (GRCm38)	missense	possibly damaging	0.92
R1887:Mga	UTSW	2	119,923,617 (GRCm38)	missense	probably damaging	1.00
R1908:Mga	UTSW	2	119,926,594 (GRCm38)	missense	possibly damaging	0.66
R1909:Mga	UTSW	2	119,926,594 (GRCm38)	missense	possibly damaging	0.66
R2061:Mga	UTSW	2	119,964,980 (GRCm38)	unclassified	probably benign
R2145:Mga	UTSW	2	119,964,157 (GRCm38)	missense	possibly damaging	0.85
R2159:Mga	UTSW	2	119,919,643 (GRCm38)	missense	probably damaging	0.96
R2179:Mga	UTSW	2	119,960,442 (GRCm38)	missense	probably damaging	0.99
R2281:Mga	UTSW	2	119,903,723 (GRCm38)	missense	probably benign
R2423:Mga	UTSW	2	119,964,793 (GRCm38)	missense	probably damaging	1.00
R3620:Mga	UTSW	2	119,916,668 (GRCm38)	missense	probably damaging	1.00
R3622:Mga	UTSW	2	119,941,764 (GRCm38)	missense	probably damaging	1.00
R3624:Mga	UTSW	2	119,941,764 (GRCm38)	missense	probably damaging	1.00
R3802:Mga	UTSW	2	119,947,339 (GRCm38)	missense	probably damaging	0.96
R4011:Mga	UTSW	2	119,931,780 (GRCm38)	missense	probably damaging	1.00
R4065:Mga	UTSW	2	119,947,002 (GRCm38)	missense	probably damaging	1.00
R4520:Mga	UTSW	2	119,948,098 (GRCm38)	missense	possibly damaging	0.85
R4649:Mga	UTSW	2	119,941,493 (GRCm38)	missense	possibly damaging	0.81
R4660:Mga	UTSW	2	119,938,623 (GRCm38)	intron	probably benign
R4757:Mga	UTSW	2	119,903,639 (GRCm38)	missense	possibly damaging	0.82
R4771:Mga	UTSW	2	119,964,294 (GRCm38)	missense	probably damaging	1.00
R4784:Mga	UTSW	2	119,903,057 (GRCm38)	missense	probably damaging	1.00
R4866:Mga	UTSW	2	119,964,054 (GRCm38)	missense	possibly damaging	0.66
R4900:Mga	UTSW	2	119,964,054 (GRCm38)	missense	possibly damaging	0.66
R4952:Mga	UTSW	2	119,903,301 (GRCm38)	missense	probably damaging	1.00
R4995:Mga	UTSW	2	119,932,582 (GRCm38)	nonsense	probably null
R5020:Mga	UTSW	2	119,951,173 (GRCm38)	nonsense	probably null
R5082:Mga	UTSW	2	119,903,344 (GRCm38)	missense	probably damaging	0.98
R5208:Mga	UTSW	2	119,947,981 (GRCm38)	missense	possibly damaging	0.83
R5454:Mga	UTSW	2	119,903,329 (GRCm38)	missense	probably damaging	0.99
R5466:Mga	UTSW	2	119,902,697 (GRCm38)	missense	probably damaging	1.00
R5484:Mga	UTSW	2	119,916,626 (GRCm38)	missense	possibly damaging	0.58
R5669:Mga	UTSW	2	119,903,426 (GRCm38)	missense	probably damaging	1.00
R5819:Mga	UTSW	2	119,941,263 (GRCm38)	missense	possibly damaging	0.61
R5916:Mga	UTSW	2	119,964,312 (GRCm38)	missense	probably benign	0.27
R5942:Mga	UTSW	2	119,946,959 (GRCm38)	missense	probably benign	0.41
R6305:Mga	UTSW	2	119,947,698 (GRCm38)	missense	probably benign	0.00
R6434:Mga	UTSW	2	119,923,938 (GRCm38)	missense	probably damaging	0.99
R6467:Mga	UTSW	2	119,946,295 (GRCm38)	missense	probably damaging	1.00
R6488:Mga	UTSW	2	119,960,907 (GRCm38)	missense	probably damaging	1.00
R6630:Mga	UTSW	2	119,923,659 (GRCm38)	missense	probably damaging	0.99
R6790:Mga	UTSW	2	119,923,754 (GRCm38)	missense	probably damaging	0.99
R7029:Mga	UTSW	2	119,923,550 (GRCm38)	missense	probably damaging	1.00
R7039:Mga	UTSW	2	119,932,678 (GRCm38)	missense	probably benign	0.28
R7088:Mga	UTSW	2	119,961,936 (GRCm38)	missense	probably damaging	1.00
R7195:Mga	UTSW	2	119,917,328 (GRCm38)	missense	probably damaging	1.00
R7273:Mga	UTSW	2	119,935,214 (GRCm38)	missense	probably damaging	1.00
R7286:Mga	UTSW	2	119,964,788 (GRCm38)	missense	possibly damaging	0.93
R7346:Mga	UTSW	2	119,935,527 (GRCm38)	missense	possibly damaging	0.56
R7383:Mga	UTSW	2	119,960,340 (GRCm38)	missense	probably damaging	0.99
R7469:Mga	UTSW	2	119,903,046 (GRCm38)	missense	probably damaging	1.00
R7484:Mga	UTSW	2	119,946,229 (GRCm38)	missense	probably damaging	0.99
R7537:Mga	UTSW	2	119,935,551 (GRCm38)	missense	probably damaging	0.97
R7781:Mga	UTSW	2	119,917,357 (GRCm38)	missense	probably damaging	1.00
R7921:Mga	UTSW	2	119,919,678 (GRCm38)	missense	probably damaging	1.00
R8165:Mga	UTSW	2	119,947,238 (GRCm38)	missense	probably benign	0.12
R8226:Mga	UTSW	2	119,960,385 (GRCm38)	missense	probably benign	0.33
R8305:Mga	UTSW	2	119,946,319 (GRCm38)	missense	possibly damaging	0.77
R8309:Mga	UTSW	2	119,960,930 (GRCm38)	missense	probably damaging	1.00
R8363:Mga	UTSW	2	119,963,926 (GRCm38)	missense	probably benign	0.43
R8388:Mga	UTSW	2	119,964,081 (GRCm38)	missense	probably benign	0.00
R8524:Mga	UTSW	2	119,941,516 (GRCm38)	missense	probably damaging	0.97
R8693:Mga	UTSW	2	119,963,926 (GRCm38)	missense	possibly damaging	0.65
R8837:Mga	UTSW	2	119,938,791 (GRCm38)	splice site	probably benign
R8916:Mga	UTSW	2	119,958,338 (GRCm38)	missense	possibly damaging	0.92
R8936:Mga	UTSW	2	119,964,228 (GRCm38)	missense	probably damaging	1.00
R9028:Mga	UTSW	2	119,947,589 (GRCm38)	missense	probably benign
R9145:Mga	UTSW	2	119,964,012 (GRCm38)	missense	probably benign
R9155:Mga	UTSW	2	119,926,532 (GRCm38)	missense	probably damaging	1.00
R9308:Mga	UTSW	2	119,923,888 (GRCm38)	missense	possibly damaging	0.91
R9342:Mga	UTSW	2	119,948,175 (GRCm38)	missense	probably benign
R9347:Mga	UTSW	2	119,903,037 (GRCm38)	missense	probably damaging	1.00
R9390:Mga	UTSW	2	119,963,851 (GRCm38)	missense	probably damaging	0.99
R9408:Mga	UTSW	2	119,935,518 (GRCm38)	missense	possibly damaging	0.92
R9488:Mga	UTSW	2	119,964,823 (GRCm38)	missense	possibly damaging	0.90
R9495:Mga	UTSW	2	119,951,195 (GRCm38)	missense	possibly damaging	0.92
R9521:Mga	UTSW	2	119,964,498 (GRCm38)	missense	probably damaging	0.99
R9780:Mga	UTSW	2	119,916,772 (GRCm38)	missense	probably benign	0.26

Posted On

2016-08-02