Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01619:Mga'

92502

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mga

Ensembl Gene

ENSMUSG00000033943

Gene Name

MAX gene associated

Synonyms

Mga, C130042M01Rik, Mad5, D030062C11Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

IGL01619

Quality Score

Status

Chromosome

Chromosomal Location

119727709-119800062 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 119762309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1100 (I1100T)

Ref Sequence

ENSEMBL: ENSMUSP00000106400 (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: I1179T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043795
Gene: ENSMUSG00000033943
AA Change: I1179T

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: I1179T

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000078853
Gene: ENSMUSG00000033943
AA Change: I1179T

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: I1100T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000106400
Gene: ENSMUSG00000033943
AA Change: I1100T

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 benign
Transcript: ENSMUST00000110774
AA Change: I1179T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000106401
Gene: ENSMUSG00000033943
AA Change: I1179T

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: ENSMUST00000152148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156074

Predicted Effect

probably benign
Transcript: ENSMUST00000156510
AA Change: I1179T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119044
Gene: ENSMUSG00000033943
AA Change: I1179T

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd46	T	C	15: 36,486,113 (GRCm39)	T47A	possibly damaging	Het
Asxl3	T	G	18: 22,656,385 (GRCm39)	V1465G	probably damaging	Het
Celsr3	A	T	9: 108,711,756 (GRCm39)	D1657V	probably damaging	Het
Celsr3	A	G	9: 108,714,603 (GRCm39)	H1995R	probably benign	Het
Cimip2b	G	A	4: 43,427,814 (GRCm39)	T170I	possibly damaging	Het
Cntn6	G	A	6: 104,705,335 (GRCm39)		probably benign	Het
Def6	C	T	17: 28,426,838 (GRCm39)	L8F	probably damaging	Het
Dnah9	T	A	11: 65,722,441 (GRCm39)	K1940*	probably null	Het
Dock10	A	G	1: 80,612,015 (GRCm39)		probably benign	Het
Fam72a	A	G	1: 131,461,650 (GRCm39)	I112V	probably benign	Het
Fgl1	A	T	8: 41,650,008 (GRCm39)	W258R	probably damaging	Het
Ints6l	G	T	X: 55,542,104 (GRCm39)		probably benign	Het
Lifr	A	T	15: 7,220,643 (GRCm39)	N1091I	probably damaging	Het
Mrpl40	T	A	16: 18,691,294 (GRCm39)	M139L	probably benign	Het
Myom1	T	C	17: 71,351,471 (GRCm39)		probably benign	Het
Or2m12	T	A	16: 19,104,909 (GRCm39)	T195S	probably damaging	Het
Pcdhb5	T	C	18: 37,455,992 (GRCm39)	F791L	probably damaging	Het
Prss29	T	C	17: 25,540,113 (GRCm39)		probably null	Het
Ranbp2	A	G	10: 58,299,900 (GRCm39)		probably null	Het
Serpinb9e	A	G	13: 33,439,108 (GRCm39)	K178R	probably damaging	Het
Shtn1	A	G	19: 59,016,601 (GRCm39)	S233P	probably damaging	Het
Smpd1	G	A	7: 105,204,549 (GRCm39)	V143M	possibly damaging	Het
Terb1	G	A	8: 105,199,646 (GRCm39)	H433Y	probably benign	Het
Traf6	C	T	2: 101,520,443 (GRCm39)	Q164*	probably null	Het
Trip12	C	A	1: 84,792,631 (GRCm39)	R4L	probably damaging	Het
Ttn	G	A	2: 76,693,879 (GRCm39)	P208S	possibly damaging	Het
Ube2c	T	C	2: 164,613,232 (GRCm39)	I50T	probably damaging	Het
Uggt1	T	C	1: 36,200,775 (GRCm39)	D1174G	probably damaging	Het
Vmn2r121	T	G	X: 123,041,997 (GRCm39)	M387L	probably benign	Het
Vmn2r18	T	A	5: 151,510,229 (GRCm39)	N48I	probably benign	Het
Zc3h15	T	C	2: 83,490,517 (GRCm39)	L217P	probably damaging	Het
Zyg11a	T	A	4: 108,062,414 (GRCm39)	E129V	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
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
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

Posted On

2013-12-09