Mutagenetix > Incidental Mutation

Incidental Mutation 'R5466:Mga'

433232

Institutional Source

Beutler Lab

Gene Symbol

Mga

Ensembl Gene

ENSMUSG00000033943

Gene Name

MAX gene associated

Synonyms

Mga, C130042M01Rik, Mad5, D030062C11Rik

MMRRC Submission

043027-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R5466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119727709-119800062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119733178 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 9 (L9M)

Ref Sequence

ENSEMBL: ENSMUSP00000119044 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000046717
AA Change: L9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043795
Gene: ENSMUSG00000033943
AA Change: L9M

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 damaging
Transcript: ENSMUST00000079934
AA Change: L9M

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

SMART Domains

Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943
AA Change: L9M

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 damaging
Transcript: ENSMUST00000110773
AA Change: L9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943
AA Change: L9M

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: L9M

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

SMART Domains

Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943
AA Change: L9M

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 damaging
Transcript: ENSMUST00000156510
AA Change: L9M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119044
Gene: ENSMUSG00000033943
AA Change: L9M

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

1x: 98.2%
3x: 97.3%
10x: 95.1%
20x: 90.5%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	C	A	2: 68,541,733 (GRCm39)	A17E	probably benign	Het
Actc1	T	C	2: 113,880,979 (GRCm39)	D82G	probably damaging	Het
Aox1	G	C	1: 58,080,619 (GRCm39)	E23Q	probably damaging	Het
Arap3	A	G	18: 38,129,789 (GRCm39)	V124A	probably benign	Het
Armc5	A	G	7: 127,839,336 (GRCm39)	N218S	probably damaging	Het
Cacna2d1	T	A	5: 16,451,712 (GRCm39)	V192E	probably damaging	Het
Col6a5	T	A	9: 105,808,282 (GRCm39)	E922V	unknown	Het
Dennd4b	G	A	3: 90,175,807 (GRCm39)		probably null	Het
Dnah12	A	G	14: 26,493,007 (GRCm39)	D1256G	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpy19l1	T	C	9: 24,325,684 (GRCm39)	E707G	probably damaging	Het
Farp1	C	T	14: 121,472,489 (GRCm39)	P208L	probably damaging	Het
Fgf11	T	C	11: 69,690,267 (GRCm39)	I107V	probably damaging	Het
Fuca2	C	T	10: 13,388,441 (GRCm39)	Q406*	probably null	Het
Gm10428	A	G	11: 62,643,932 (GRCm39)		probably benign	Het
Gm17430	A	G	18: 9,726,228 (GRCm39)	V148A	probably benign	Het
Gm5930	A	T	14: 44,575,014 (GRCm39)	N57K	probably damaging	Het
Gucy2c	T	A	6: 136,758,463 (GRCm39)	K48*	probably null	Het
Ip6k2	C	T	9: 108,675,661 (GRCm39)	R109C	probably damaging	Het
Kif21b	T	A	1: 136,075,263 (GRCm39)	F159I	probably damaging	Het
Macf1	A	T	4: 123,346,658 (GRCm39)	S1981T	possibly damaging	Het
Mov10l1	T	C	15: 88,869,904 (GRCm39)		probably null	Het
Msrb1	A	T	17: 24,958,533 (GRCm39)	H39L	possibly damaging	Het
Or4c117	A	T	2: 88,955,477 (GRCm39)	F199L	probably benign	Het
Or6b1	A	T	6: 42,815,027 (GRCm39)	T71S	probably benign	Het
Pcdha1	G	A	18: 37,065,312 (GRCm39)	A659T	possibly damaging	Het
Pcm1	T	A	8: 41,725,499 (GRCm39)		probably null	Het
Rfpl4b	C	A	10: 38,697,394 (GRCm39)	C69F	probably damaging	Het
Tnn	G	A	1: 159,948,106 (GRCm39)	T869I	possibly damaging	Het
Trp53i11	C	A	2: 93,029,728 (GRCm39)	L121I	possibly damaging	Het
Uimc1	A	G	13: 55,223,661 (GRCm39)	S204P	probably damaging	Het
Usp43	A	T	11: 67,804,709 (GRCm39)	N169K	probably damaging	Het
Vldlr	A	G	19: 27,217,243 (GRCm39)		probably null	Het
Vmn2r115	A	G	17: 23,579,030 (GRCm39)	I834M	probably damaging	Het
Zbtb21	A	G	16: 97,751,698 (GRCm39)	S690P	possibly damaging	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het

Other mutations in Mga

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00551:Mga	APN	2	119,750,295 (GRCm39)	missense	possibly damaging	0.65
IGL00719:Mga	APN	2	119,777,934 (GRCm39)	nonsense	probably null
IGL01619:Mga	APN	2	119,762,309 (GRCm39)	missense	possibly damaging	0.46
IGL01721:Mga	APN	2	119,765,720 (GRCm39)	missense	probably damaging	1.00
IGL01759:Mga	APN	2	119,781,676 (GRCm39)	missense	possibly damaging	0.92
IGL01785:Mga	APN	2	119,733,393 (GRCm39)	missense	probably damaging	1.00
IGL01786:Mga	APN	2	119,733,393 (GRCm39)	missense	probably damaging	1.00
IGL01950:Mga	APN	2	119,772,135 (GRCm39)	missense	possibly damaging	0.60
IGL01960:Mga	APN	2	119,769,138 (GRCm39)	missense	probably damaging	1.00
IGL02086:Mga	APN	2	119,754,517 (GRCm39)	missense	probably damaging	0.99
IGL02364:Mga	APN	2	119,794,535 (GRCm39)	missense	possibly damaging	0.66
IGL02602:Mga	APN	2	119,762,365 (GRCm39)	missense	possibly damaging	0.66
IGL02751:Mga	APN	2	119,778,251 (GRCm39)	missense	possibly damaging	0.82
IGL02794:Mga	APN	2	119,776,770 (GRCm39)	missense	possibly damaging	0.84
IGL03247:Mga	APN	2	119,765,994 (GRCm39)	missense	possibly damaging	0.81
IGL03303:Mga	APN	2	119,733,933 (GRCm39)	missense	probably damaging	1.00
PIT4515001:Mga	UTSW	2	119,746,985 (GRCm39)	missense	probably damaging	1.00
R0060:Mga	UTSW	2	119,791,442 (GRCm39)	critical splice donor site	probably null
R0060:Mga	UTSW	2	119,791,442 (GRCm39)	critical splice donor site	probably null
R0417:Mga	UTSW	2	119,733,271 (GRCm39)	missense	probably damaging	0.99
R0449:Mga	UTSW	2	119,771,862 (GRCm39)	missense	probably damaging	1.00
R0457:Mga	UTSW	2	119,746,969 (GRCm39)	missense	probably damaging	0.98
R0538:Mga	UTSW	2	119,750,187 (GRCm39)	critical splice donor site	probably null
R0568:Mga	UTSW	2	119,765,903 (GRCm39)	missense	probably damaging	1.00
R0614:Mga	UTSW	2	119,794,947 (GRCm39)	missense	probably damaging	1.00
R0671:Mga	UTSW	2	119,750,391 (GRCm39)	splice site	probably null
R0811:Mga	UTSW	2	119,778,442 (GRCm39)	missense	probably damaging	0.99
R0812:Mga	UTSW	2	119,778,442 (GRCm39)	missense	probably damaging	0.99
R0948:Mga	UTSW	2	119,772,140 (GRCm39)	missense	possibly damaging	0.77
R1177:Mga	UTSW	2	119,756,927 (GRCm39)	missense	probably damaging	1.00
R1445:Mga	UTSW	2	119,733,179 (GRCm39)	missense	probably damaging	1.00
R1476:Mga	UTSW	2	119,772,156 (GRCm39)	missense	probably damaging	0.96
R1527:Mga	UTSW	2	119,747,078 (GRCm39)	missense	probably damaging	1.00
R1583:Mga	UTSW	2	119,794,441 (GRCm39)	missense	possibly damaging	0.66
R1592:Mga	UTSW	2	119,795,147 (GRCm39)	missense	possibly damaging	0.93
R1627:Mga	UTSW	2	119,795,043 (GRCm39)	missense	probably damaging	1.00
R1658:Mga	UTSW	2	119,772,170 (GRCm39)	missense	possibly damaging	0.63
R1677:Mga	UTSW	2	119,791,333 (GRCm39)	missense	possibly damaging	0.92
R1887:Mga	UTSW	2	119,754,098 (GRCm39)	missense	probably damaging	1.00
R1908:Mga	UTSW	2	119,757,075 (GRCm39)	missense	possibly damaging	0.66
R1909:Mga	UTSW	2	119,757,075 (GRCm39)	missense	possibly damaging	0.66
R2061:Mga	UTSW	2	119,795,461 (GRCm39)	unclassified	probably benign
R2145:Mga	UTSW	2	119,794,638 (GRCm39)	missense	possibly damaging	0.85
R2159:Mga	UTSW	2	119,750,124 (GRCm39)	missense	probably damaging	0.96
R2179:Mga	UTSW	2	119,790,923 (GRCm39)	missense	probably damaging	0.99
R2281:Mga	UTSW	2	119,734,204 (GRCm39)	missense	probably benign
R2423:Mga	UTSW	2	119,795,274 (GRCm39)	missense	probably damaging	1.00
R3620:Mga	UTSW	2	119,747,149 (GRCm39)	missense	probably damaging	1.00
R3622:Mga	UTSW	2	119,772,245 (GRCm39)	missense	probably damaging	1.00
R3624:Mga	UTSW	2	119,772,245 (GRCm39)	missense	probably damaging	1.00
R3802:Mga	UTSW	2	119,777,820 (GRCm39)	missense	probably damaging	0.96
R4011:Mga	UTSW	2	119,762,261 (GRCm39)	missense	probably damaging	1.00
R4065:Mga	UTSW	2	119,777,483 (GRCm39)	missense	probably damaging	1.00
R4520:Mga	UTSW	2	119,778,579 (GRCm39)	missense	possibly damaging	0.85
R4649:Mga	UTSW	2	119,771,974 (GRCm39)	missense	possibly damaging	0.81
R4660:Mga	UTSW	2	119,769,104 (GRCm39)	intron	probably benign
R4757:Mga	UTSW	2	119,734,120 (GRCm39)	missense	possibly damaging	0.82
R4771:Mga	UTSW	2	119,794,775 (GRCm39)	missense	probably damaging	1.00
R4784:Mga	UTSW	2	119,733,538 (GRCm39)	missense	probably damaging	1.00
R4866:Mga	UTSW	2	119,794,535 (GRCm39)	missense	possibly damaging	0.66
R4900:Mga	UTSW	2	119,794,535 (GRCm39)	missense	possibly damaging	0.66
R4952:Mga	UTSW	2	119,733,782 (GRCm39)	missense	probably damaging	1.00
R4995:Mga	UTSW	2	119,763,063 (GRCm39)	nonsense	probably null
R5020:Mga	UTSW	2	119,781,654 (GRCm39)	nonsense	probably null
R5082:Mga	UTSW	2	119,733,825 (GRCm39)	missense	probably damaging	0.98
R5208:Mga	UTSW	2	119,778,462 (GRCm39)	missense	possibly damaging	0.83
R5454:Mga	UTSW	2	119,733,810 (GRCm39)	missense	probably damaging	0.99
R5484:Mga	UTSW	2	119,747,107 (GRCm39)	missense	possibly damaging	0.58
R5669:Mga	UTSW	2	119,733,907 (GRCm39)	missense	probably damaging	1.00
R5819:Mga	UTSW	2	119,771,744 (GRCm39)	missense	possibly damaging	0.61
R5916:Mga	UTSW	2	119,794,793 (GRCm39)	missense	probably benign	0.27
R5942:Mga	UTSW	2	119,777,440 (GRCm39)	missense	probably benign	0.41
R6305:Mga	UTSW	2	119,778,179 (GRCm39)	missense	probably benign	0.00
R6434:Mga	UTSW	2	119,754,419 (GRCm39)	missense	probably damaging	0.99
R6467:Mga	UTSW	2	119,776,776 (GRCm39)	missense	probably damaging	1.00
R6488:Mga	UTSW	2	119,791,388 (GRCm39)	missense	probably damaging	1.00
R6630:Mga	UTSW	2	119,754,140 (GRCm39)	missense	probably damaging	0.99
R6790:Mga	UTSW	2	119,754,235 (GRCm39)	missense	probably damaging	0.99
R7029:Mga	UTSW	2	119,754,031 (GRCm39)	missense	probably damaging	1.00
R7039:Mga	UTSW	2	119,763,159 (GRCm39)	missense	probably benign	0.28
R7088:Mga	UTSW	2	119,792,417 (GRCm39)	missense	probably damaging	1.00
R7195:Mga	UTSW	2	119,747,809 (GRCm39)	missense	probably damaging	1.00
R7273:Mga	UTSW	2	119,765,695 (GRCm39)	missense	probably damaging	1.00
R7286:Mga	UTSW	2	119,795,269 (GRCm39)	missense	possibly damaging	0.93
R7346:Mga	UTSW	2	119,766,008 (GRCm39)	missense	possibly damaging	0.56
R7383:Mga	UTSW	2	119,790,821 (GRCm39)	missense	probably damaging	0.99
R7469:Mga	UTSW	2	119,733,527 (GRCm39)	missense	probably damaging	1.00
R7484:Mga	UTSW	2	119,776,710 (GRCm39)	missense	probably damaging	0.99
R7537:Mga	UTSW	2	119,766,032 (GRCm39)	missense	probably damaging	0.97
R7781:Mga	UTSW	2	119,747,838 (GRCm39)	missense	probably damaging	1.00
R7921:Mga	UTSW	2	119,750,159 (GRCm39)	missense	probably damaging	1.00
R8165:Mga	UTSW	2	119,777,719 (GRCm39)	missense	probably benign	0.12
R8226:Mga	UTSW	2	119,790,866 (GRCm39)	missense	probably benign	0.33
R8305:Mga	UTSW	2	119,776,800 (GRCm39)	missense	possibly damaging	0.77
R8309:Mga	UTSW	2	119,791,411 (GRCm39)	missense	probably damaging	1.00
R8363:Mga	UTSW	2	119,794,407 (GRCm39)	missense	probably benign	0.43
R8388:Mga	UTSW	2	119,794,562 (GRCm39)	missense	probably benign	0.00
R8524:Mga	UTSW	2	119,771,997 (GRCm39)	missense	probably damaging	0.97
R8693:Mga	UTSW	2	119,794,407 (GRCm39)	missense	possibly damaging	0.65
R8837:Mga	UTSW	2	119,769,272 (GRCm39)	splice site	probably benign
R8916:Mga	UTSW	2	119,788,819 (GRCm39)	missense	possibly damaging	0.92
R8936:Mga	UTSW	2	119,794,709 (GRCm39)	missense	probably damaging	1.00
R9028:Mga	UTSW	2	119,778,070 (GRCm39)	missense	probably benign
R9145:Mga	UTSW	2	119,794,493 (GRCm39)	missense	probably benign
R9155:Mga	UTSW	2	119,757,013 (GRCm39)	missense	probably damaging	1.00
R9308:Mga	UTSW	2	119,754,369 (GRCm39)	missense	possibly damaging	0.91
R9342:Mga	UTSW	2	119,778,656 (GRCm39)	missense	probably benign
R9347:Mga	UTSW	2	119,733,518 (GRCm39)	missense	probably damaging	1.00
R9390:Mga	UTSW	2	119,794,332 (GRCm39)	missense	probably damaging	0.99
R9408:Mga	UTSW	2	119,765,999 (GRCm39)	missense	possibly damaging	0.92
R9488:Mga	UTSW	2	119,795,304 (GRCm39)	missense	possibly damaging	0.90
R9495:Mga	UTSW	2	119,781,676 (GRCm39)	missense	possibly damaging	0.92
R9521:Mga	UTSW	2	119,794,979 (GRCm39)	missense	probably damaging	0.99
R9780:Mga	UTSW	2	119,747,253 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CATGGGCAAGTTTATCTGTGC -3'
(R):5'- ACAGTACAATCAGCCGGAAG -3'

Sequencing Primer
(F):5'- TAGAGTACAGGTCTGTGCCACTAC -3'
(R):5'- ACGGGCATCTCGATTAGT -3'

Posted On

2016-10-06