Mutagenetix > Incidental Mutation

Incidental Mutation 'R3622:Mga'

268654

Institutional Source

Beutler Lab

Gene Symbol

Mga

Ensembl Gene

ENSMUSG00000033943

Gene Name

MAX gene associated

Synonyms

Mga, C130042M01Rik, Mad5, D030062C11Rik

MMRRC Submission

040677-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

R3622 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119727709-119800062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119772245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1702 (T1702A)

Ref Sequence

ENSEMBL: ENSMUSP00000043795 (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: T1702A

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

SMART Domains

Protein: ENSMUSP00000043795
Gene: ENSMUSG00000033943
AA Change: T1702A

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

SMART Domains

Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943

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: T1623A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943
AA Change: T1623A

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: T1702A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943
AA Change: T1702A

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: ENSMUST00000132054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138851

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156074

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152148

Predicted Effect

probably benign
Transcript: ENSMUST00000156510

SMART Domains

Protein: ENSMUSP00000119044
Gene: ENSMUSG00000033943

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

Meta Mutation Damage Score

0.0677

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (42/42)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 119,950,036 (GRCm39)	Y503*	probably null	Het
Akap9	C	A	5: 4,026,235 (GRCm39)	Q1297K	possibly damaging	Het
Dffb	T	C	4: 154,049,976 (GRCm39)	T296A	probably damaging	Het
Dpf1	G	A	7: 29,015,631 (GRCm39)		probably null	Het
Elp1	A	T	4: 56,759,925 (GRCm39)		probably null	Het
Grid2ip	T	C	5: 143,371,774 (GRCm39)	S666P	probably damaging	Het
Gucy2e	T	A	11: 69,115,877 (GRCm39)	E835V	probably damaging	Het
Hdac5	G	A	11: 102,086,644 (GRCm39)	P120S	probably benign	Het
Htr1d	T	C	4: 136,170,815 (GRCm39)	I348T	probably damaging	Het
Hyal4	A	T	6: 24,765,737 (GRCm39)	S364C	probably damaging	Het
Igkv1-133	A	T	6: 67,701,944 (GRCm39)	Q16L	probably benign	Het
Itga10	C	T	3: 96,559,054 (GRCm39)		probably benign	Het
Met	A	T	6: 17,549,085 (GRCm39)	D979V	probably damaging	Het
Midn	A	G	10: 79,986,144 (GRCm39)	D78G	probably benign	Het
Muc5b	T	C	7: 141,405,595 (GRCm39)		probably benign	Het
Oma1	T	C	4: 103,223,288 (GRCm39)	I491T	probably benign	Het
Or1e30	A	G	11: 73,678,567 (GRCm39)	T268A	probably benign	Het
Or5ak24	C	T	2: 85,260,837 (GRCm39)	C112Y	probably benign	Het
Or5b107	T	A	19: 13,143,020 (GRCm39)	M214K	probably benign	Het
Or8b48	A	G	9: 38,492,792 (GRCm39)	Y73C	probably damaging	Het
Pbld2	T	C	10: 62,897,470 (GRCm39)	L57P	probably damaging	Het
Phka2	T	A	X: 159,327,291 (GRCm39)	Y334*	probably null	Het
Plin4	G	T	17: 56,411,112 (GRCm39)	T973K	possibly damaging	Het
R3hdm4	C	T	10: 79,748,515 (GRCm39)	R143H	possibly damaging	Het
Rps18	G	C	17: 34,171,247 (GRCm39)		probably null	Het
Samd9l	A	T	6: 3,374,032 (GRCm39)	C1076*	probably null	Het
Scml4	T	C	10: 42,806,607 (GRCm39)		probably benign	Het
Slc16a10	A	G	10: 40,017,890 (GRCm39)	V48A	probably benign	Het
Slc6a5	T	C	7: 49,567,371 (GRCm39)	V275A	probably benign	Het
Smad9	C	T	3: 54,696,705 (GRCm39)	R257W	probably damaging	Het
Snrpb	C	A	2: 130,017,299 (GRCm39)	R73L	probably null	Het
Srsf9	C	T	5: 115,468,571 (GRCm39)	A69V	probably damaging	Het
Stfa2	A	G	16: 36,224,433 (GRCm39)	Y90H	probably damaging	Het
Tgm6	T	A	2: 129,993,681 (GRCm39)	V640E	possibly damaging	Het
Tnrc6c	C	T	11: 117,640,451 (GRCm39)	R1414C	probably damaging	Het
Tyk2	A	T	9: 21,038,606 (GRCm39)	C8S	probably damaging	Het
Upp2	G	A	2: 58,680,128 (GRCm39)	R300Q	possibly damaging	Het
Utp20	A	G	10: 88,593,855 (GRCm39)		probably benign	Het
Veph1	C	T	3: 66,122,858 (GRCm39)	V224I	probably benign	Het
Vmn1r30	A	T	6: 58,412,437 (GRCm39)	F132I	probably benign	Het
Vmn2r116	A	G	17: 23,605,025 (GRCm39)	S113G	probably benign	Het
Vps53	A	C	11: 76,008,609 (GRCm39)	V237G	probably benign	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
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
R5466:Mga	UTSW	2	119,733,178 (GRCm39)	missense	probably damaging	1.00
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'- TCTACCCAGTCTACAGCCACTG -3'
(R):5'- CAAGATAGCTATGAATGCAGCC -3'

Sequencing Primer
(F):5'- TGTGAACCTTACCAAAACTACTGGG -3'
(R):5'- TAGCTATGAATGCAGCCCAATG -3'

Posted On

2015-02-19