Mutagenetix > Incidental Mutation

Incidental Mutation 'R7029:Mga'

546170

Institutional Source

Beutler Lab

Gene Symbol

Mga

Ensembl Gene

ENSMUSG00000033943

Gene Name

MAX gene associated

Synonyms

Mga, C130042M01Rik, Mad5, D030062C11Rik

MMRRC Submission

045130-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R7029 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119727709-119800062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119754031 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 847 (T847A)

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 damaging
Transcript: ENSMUST00000046717
AA Change: T847A

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

SMART Domains

Protein: ENSMUSP00000043795
Gene: ENSMUSG00000033943
AA Change: T847A

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: T847A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943
AA Change: T847A

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

possibly damaging
Transcript: ENSMUST00000110773
AA Change: T768A

PolyPhen 2 Score 0.784 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943
AA Change: T768A

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: T847A

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

SMART Domains

Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943
AA Change: T847A

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

probably damaging
Transcript: ENSMUST00000156510
AA Change: T847A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000119044
Gene: ENSMUSG00000033943
AA Change: T847A

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,853,841 (GRCm39)	Q271R	probably benign	Het
Abhd4	T	A	14: 54,500,164 (GRCm39)	W63R	probably damaging	Het
Adcy5	A	G	16: 35,120,018 (GRCm39)	M1176V	probably null	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Brox	G	A	1: 183,065,750 (GRCm39)	P206L	possibly damaging	Het
Ccn3	A	G	15: 54,611,171 (GRCm39)	D102G	possibly damaging	Het
Def6	A	G	17: 28,444,943 (GRCm39)	K447R	probably benign	Het
Dna2	T	C	10: 62,799,773 (GRCm39)	S726P	probably damaging	Het
Ell	G	A	8: 71,031,879 (GRCm39)	V15I	probably damaging	Het
Entrep2	T	A	7: 64,409,075 (GRCm39)	T440S	probably benign	Het
Epha3	T	A	16: 63,593,698 (GRCm39)	D130V	probably benign	Het
Gys1	A	G	7: 45,089,008 (GRCm39)	T200A	possibly damaging	Het
Habp4	A	T	13: 64,309,939 (GRCm39)	H47L	probably benign	Het
Iqcn	G	T	8: 71,161,511 (GRCm39)	V235L	possibly damaging	Het
Kcnj10	C	A	1: 172,196,563 (GRCm39)	R26S	probably benign	Het
Klhl1	T	A	14: 96,755,632 (GRCm39)	D41V	probably benign	Het
Lyn	A	G	4: 3,782,996 (GRCm39)	T410A	probably damaging	Het
Mrgpra3	G	T	7: 47,239,290 (GRCm39)	T212N	probably benign	Het
Myh4	T	C	11: 67,137,251 (GRCm39)	F491L	probably benign	Het
Neurl4	T	A	11: 69,801,562 (GRCm39)	I1206N	probably damaging	Het
Pcdhb15	T	A	18: 37,608,621 (GRCm39)	W618R	possibly damaging	Het
Pomc	A	G	12: 4,010,146 (GRCm39)	H129R	probably damaging	Het
Ppm1l	C	A	3: 69,460,399 (GRCm39)	H325Q	probably benign	Het
Psme4	A	G	11: 30,722,474 (GRCm39)		probably benign	Het
Reep2	A	G	18: 34,978,342 (GRCm39)	I74V	probably null	Het
Robo2	T	G	16: 73,745,225 (GRCm39)	E850A	probably damaging	Het
Scrn2	T	A	11: 96,921,262 (GRCm39)		probably benign	Het
Sfpq	G	A	4: 126,923,675 (GRCm39)	R673K	probably benign	Het
Sh2d3c	T	C	2: 32,644,581 (GRCm39)	*703R	probably null	Het
Spp1	A	G	5: 104,587,167 (GRCm39)	M85V	probably benign	Het
Srebf1	T	C	11: 60,097,810 (GRCm39)	E98G	probably damaging	Het
Srrm4	T	A	5: 116,582,851 (GRCm39)		probably benign	Het
Ticam1	A	T	17: 56,578,154 (GRCm39)	S314T	possibly damaging	Het
Tie1	T	C	4: 118,341,823 (GRCm39)	I209V	possibly damaging	Het
Vapa	G	A	17: 65,889,586 (GRCm39)	R194*	probably null	Het
Vcan	C	T	13: 89,838,360 (GRCm39)	D2395N	probably damaging	Het
Whamm	A	G	7: 81,241,574 (GRCm39)	H295R	probably benign	Het
Zdhhc14	A	G	17: 5,698,186 (GRCm39)	Y85C	probably damaging	Het
Zfp35	T	A	18: 24,136,583 (GRCm39)	F309Y	probably damaging	Het
Zfp423	C	A	8: 88,414,694 (GRCm39)	C1187F	probably damaging	Het
Zfp874b	T	C	13: 67,622,392 (GRCm39)	Y302C	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
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
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'- AGAAGCTTCAGTAGGATATAGCTCAG -3'
(R):5'- AGATGATTTAGTTCGGCCACTG -3'

Sequencing Primer
(F):5'- GGATATAGCTCAGTTCTTAGAGAGC -3'
(R):5'- CGGCCACTGAGTGTTGTC -3'

Posted On

2019-05-13