Mutagenetix > Incidental Mutation

Incidental Mutation 'R4589:Mug1'

342673

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4589 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

121815500-121866016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121834310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 364 (I364F)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032228]

AlphaFold

P28665

Predicted Effect

probably benign
Transcript: ENSMUST00000032228
AA Change: I364F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: I364F

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:A2M_N	128	221	5e-21	PFAM
A2M_N_2	449	599	2.55e-41	SMART
A2M	740	830	5.43e-36	SMART
Pfam:Thiol-ester_cl	963	992	1e-18	PFAM
Pfam:A2M_comp	1012	1268	5.4e-94	PFAM
A2M_recep	1378	1465	4.14e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148563

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and phenotypically normal under standard conditions but show increased mortality in response to diet-induced acute pancreatitis along with hepatic cell necrosis and inflammatory infiltration, andincreased plasma amylase and lipase levels. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc1	G	T	16: 14,211,895 (GRCm39)	V157L	probably benign	Het
Actn1	G	A	12: 80,218,573 (GRCm39)	T737I	possibly damaging	Het
Ada	T	C	2: 163,574,868 (GRCm39)	K90E	possibly damaging	Het
Ap2b1	T	A	11: 83,223,837 (GRCm39)	L184*	probably null	Het
Arfgef3	T	C	10: 18,521,947 (GRCm39)	D693G	probably damaging	Het
Arid4a	A	T	12: 71,116,738 (GRCm39)	I277F	probably damaging	Het
Armh4	A	G	14: 50,011,039 (GRCm39)	S223P	probably damaging	Het
Ccdc171	A	G	4: 83,467,855 (GRCm39)	S67G	probably benign	Het
Ccr5	T	A	9: 123,924,539 (GRCm39)	F47L	probably benign	Het
Clip4	T	A	17: 72,117,862 (GRCm39)	C302*	probably null	Het
Cyth1	C	T	11: 118,075,811 (GRCm39)	V142I	possibly damaging	Het
Ddx59	T	A	1: 136,367,480 (GRCm39)		probably null	Het
Def6	G	T	17: 28,447,121 (GRCm39)	R584L	probably benign	Het
Dnah7c	C	A	1: 46,553,743 (GRCm39)	Y340*	probably null	Het
Eif2ak4	T	G	2: 118,247,819 (GRCm39)	C173W	probably damaging	Het
Gm14403	C	T	2: 177,200,428 (GRCm39)	H125Y	probably benign	Het
Grk3	T	C	5: 113,089,584 (GRCm39)	I323V	possibly damaging	Het
Homez	G	T	14: 55,094,487 (GRCm39)	T407K	probably damaging	Het
Igdcc4	A	G	9: 65,037,910 (GRCm39)	T763A	probably damaging	Het
Ighg2b	A	T	12: 113,270,104 (GRCm39)	W305R	unknown	Het
Il27ra	G	T	8: 84,763,038 (GRCm39)	N296K	probably damaging	Het
Lzic	G	T	4: 149,572,561 (GRCm39)	L50F	probably damaging	Het
Mbtd1	T	C	11: 93,812,245 (GRCm39)	V183A	probably damaging	Het
Mme	T	A	3: 63,287,693 (GRCm39)	D731E	probably benign	Het
Mocos	T	C	18: 24,787,095 (GRCm39)	L38P	probably damaging	Het
Mrps18a	T	C	17: 46,428,899 (GRCm39)		probably null	Het
Msh2	T	A	17: 87,987,460 (GRCm39)	V200D	possibly damaging	Het
Mycbp2	G	T	14: 103,414,749 (GRCm39)	S2554R	probably benign	Het
Nat10	A	G	2: 103,584,415 (GRCm39)	C121R	probably damaging	Het
Nfatc3	T	A	8: 106,805,705 (GRCm39)	D183E	probably damaging	Het
Odr4	C	T	1: 150,260,238 (GRCm39)	V127I	probably benign	Het
Or4d10c	T	C	19: 12,065,305 (GRCm39)	I284V	possibly damaging	Het
Or51ac3	A	T	7: 103,213,639 (GRCm39)	F282L	probably damaging	Het
Or52h1	C	A	7: 103,828,636 (GRCm39)		probably null	Het
Or5d14	T	C	2: 87,880,823 (GRCm39)	I48M	probably benign	Het
Pak6	T	A	2: 118,527,021 (GRCm39)	I672K	probably damaging	Het
Pan3	A	T	5: 147,479,983 (GRCm39)	I830F	probably damaging	Het
Pcdh9	A	T	14: 94,125,628 (GRCm39)	L181I	probably damaging	Het
Pigg	G	A	5: 108,480,556 (GRCm39)	A447T	probably benign	Het
Pitpnb	T	A	5: 111,519,214 (GRCm39)	S165T	probably damaging	Het
Pla2g2a	A	G	4: 138,560,590 (GRCm39)	Y67C	probably damaging	Het
Plch1	A	G	3: 63,688,928 (GRCm39)	I80T	probably damaging	Het
Pnma1	A	G	12: 84,194,235 (GRCm39)	I156T	probably benign	Het
Prss21	G	T	17: 24,091,796 (GRCm39)	D255Y	possibly damaging	Het
Prune1	T	A	3: 95,169,642 (GRCm39)	I187F	possibly damaging	Het
Rab7b	T	C	1: 131,633,385 (GRCm39)	F78L	probably benign	Het
Riok3	T	A	18: 12,269,844 (GRCm39)	Y92N	probably benign	Het
Rpap2	T	C	5: 107,768,361 (GRCm39)	S400P	probably benign	Het
Ryr3	C	A	2: 112,705,478 (GRCm39)	G792V	probably damaging	Het
Septin3	A	G	15: 82,170,092 (GRCm39)	E206G	probably damaging	Het
Stkld1	T	C	2: 26,840,679 (GRCm39)	S454P	probably damaging	Het
Tdh	A	T	14: 63,733,326 (GRCm39)	L140Q	probably damaging	Het
Tex15	T	A	8: 34,047,401 (GRCm39)	H159Q	probably damaging	Het
Tmed6	C	T	8: 107,790,793 (GRCm39)	V85I	probably benign	Het
Vmn1r174	T	A	7: 23,454,204 (GRCm39)	L290*	probably null	Het
Vmn1r31	A	G	6: 58,449,596 (GRCm39)	S90P	probably damaging	Het
Vmn2r55	T	C	7: 12,404,822 (GRCm39)	T194A	probably damaging	Het
Vmn2r82	A	T	10: 79,192,548 (GRCm39)	I42F	probably damaging	Het
Vps35	G	A	8: 86,014,331 (GRCm39)	P106L	probably damaging	Het
Xrcc6	T	A	15: 81,906,661 (GRCm39)	Y69N	probably damaging	Het
Zbtb14	C	T	17: 69,695,465 (GRCm39)	P388S	probably damaging	Het
Zfp541	C	T	7: 15,817,261 (GRCm39)	A902V	probably benign	Het

Other mutations in Mug1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Mug1	APN	6	121,842,768 (GRCm39)	missense	probably damaging	1.00
IGL00485:Mug1	APN	6	121,864,375 (GRCm39)	missense	probably benign	0.17
IGL00816:Mug1	APN	6	121,859,597 (GRCm39)	missense	probably damaging	0.99
IGL01140:Mug1	APN	6	121,859,693 (GRCm39)	missense	probably benign	0.01
IGL01141:Mug1	APN	6	121,847,458 (GRCm39)	missense	probably benign	0.08
IGL01384:Mug1	APN	6	121,826,433 (GRCm39)	splice site	probably benign
IGL01659:Mug1	APN	6	121,847,619 (GRCm39)	splice site	probably benign
IGL02049:Mug1	APN	6	121,848,295 (GRCm39)	missense	probably benign
IGL02151:Mug1	APN	6	121,861,649 (GRCm39)	critical splice donor site	probably null
IGL02315:Mug1	APN	6	121,817,126 (GRCm39)	missense	probably benign
IGL02629:Mug1	APN	6	121,817,024 (GRCm39)	missense	possibly damaging	0.62
IGL02642:Mug1	APN	6	121,859,544 (GRCm39)	missense	probably benign	0.14
IGL02807:Mug1	APN	6	121,863,531 (GRCm39)	missense	probably damaging	0.96
IGL02932:Mug1	APN	6	121,864,386 (GRCm39)	missense	probably benign	0.35
IGL03232:Mug1	APN	6	121,855,494 (GRCm39)	missense	probably benign	0.00
R1462_Mug1_304	UTSW	6	121,859,588 (GRCm39)	missense	probably benign	0.41
R2341_Mug1_749	UTSW	6	121,861,588 (GRCm39)	missense	probably benign	0.06
R4261_Mug1_652	UTSW	6	121,850,693 (GRCm39)	missense	probably benign
R6173_mug1_139	UTSW	6	121,840,752 (GRCm39)	missense	probably damaging	0.99
IGL03050:Mug1	UTSW	6	121,857,530 (GRCm39)	missense	possibly damaging	0.90
R0101:Mug1	UTSW	6	121,861,206 (GRCm39)	missense	possibly damaging	0.59
R0194:Mug1	UTSW	6	121,817,066 (GRCm39)	missense	probably damaging	0.98
R0196:Mug1	UTSW	6	121,815,684 (GRCm39)	critical splice donor site	probably null
R0325:Mug1	UTSW	6	121,826,801 (GRCm39)	missense	probably benign
R0332:Mug1	UTSW	6	121,826,856 (GRCm39)	splice site	probably null
R0377:Mug1	UTSW	6	121,834,320 (GRCm39)	missense	probably benign	0.02
R0393:Mug1	UTSW	6	121,826,809 (GRCm39)	missense	possibly damaging	0.64
R0414:Mug1	UTSW	6	121,833,513 (GRCm39)	missense	probably benign	0.00
R0457:Mug1	UTSW	6	121,838,514 (GRCm39)	missense	probably benign	0.06
R0479:Mug1	UTSW	6	121,817,186 (GRCm39)	missense	probably benign
R0519:Mug1	UTSW	6	121,828,383 (GRCm39)	missense	possibly damaging	0.83
R0535:Mug1	UTSW	6	121,828,413 (GRCm39)	missense	probably benign
R0745:Mug1	UTSW	6	121,864,386 (GRCm39)	missense	probably benign	0.35
R0939:Mug1	UTSW	6	121,861,308 (GRCm39)	missense	possibly damaging	0.95
R0975:Mug1	UTSW	6	121,855,498 (GRCm39)	missense	probably damaging	0.99
R1033:Mug1	UTSW	6	121,857,510 (GRCm39)	missense	probably damaging	0.99
R1086:Mug1	UTSW	6	121,862,813 (GRCm39)	missense	probably damaging	1.00
R1116:Mug1	UTSW	6	121,847,604 (GRCm39)	missense	probably benign
R1131:Mug1	UTSW	6	121,838,144 (GRCm39)	missense	probably benign	0.18
R1249:Mug1	UTSW	6	121,826,420 (GRCm39)	missense	probably benign	0.07
R1364:Mug1	UTSW	6	121,858,672 (GRCm39)	missense	probably damaging	1.00
R1418:Mug1	UTSW	6	121,815,635 (GRCm39)	missense	probably benign	0.00
R1462:Mug1	UTSW	6	121,859,588 (GRCm39)	missense	probably benign	0.41
R1462:Mug1	UTSW	6	121,859,588 (GRCm39)	missense	probably benign	0.41
R1494:Mug1	UTSW	6	121,856,259 (GRCm39)	missense	probably damaging	1.00
R1639:Mug1	UTSW	6	121,857,530 (GRCm39)	missense	probably damaging	1.00
R1901:Mug1	UTSW	6	121,858,780 (GRCm39)	missense	probably benign
R1902:Mug1	UTSW	6	121,858,780 (GRCm39)	missense	probably benign
R2087:Mug1	UTSW	6	121,833,250 (GRCm39)	missense	probably benign	0.00
R2168:Mug1	UTSW	6	121,847,458 (GRCm39)	missense	probably benign	0.08
R2249:Mug1	UTSW	6	121,847,469 (GRCm39)	missense	probably benign
R2341:Mug1	UTSW	6	121,861,588 (GRCm39)	missense	probably benign	0.06
R2888:Mug1	UTSW	6	121,858,802 (GRCm39)	missense	probably benign	0.44
R2892:Mug1	UTSW	6	121,817,029 (GRCm39)	missense	possibly damaging	0.91
R3703:Mug1	UTSW	6	121,865,515 (GRCm39)	splice site	probably benign
R3789:Mug1	UTSW	6	121,861,587 (GRCm39)	missense	probably benign	0.03
R3790:Mug1	UTSW	6	121,861,587 (GRCm39)	missense	probably benign	0.03
R3950:Mug1	UTSW	6	121,855,489 (GRCm39)	missense	probably damaging	1.00
R4261:Mug1	UTSW	6	121,850,693 (GRCm39)	missense	probably benign
R4402:Mug1	UTSW	6	121,856,311 (GRCm39)	missense	probably damaging	1.00
R4707:Mug1	UTSW	6	121,861,600 (GRCm39)	missense	probably damaging	1.00
R4766:Mug1	UTSW	6	121,861,213 (GRCm39)	missense	probably benign	0.01
R4840:Mug1	UTSW	6	121,862,813 (GRCm39)	missense	probably damaging	1.00
R4984:Mug1	UTSW	6	121,815,576 (GRCm39)	utr 5 prime	probably benign
R4999:Mug1	UTSW	6	121,855,902 (GRCm39)	nonsense	probably null
R5198:Mug1	UTSW	6	121,851,521 (GRCm39)	missense	probably damaging	1.00
R5220:Mug1	UTSW	6	121,838,092 (GRCm39)	missense	probably benign	0.03
R5253:Mug1	UTSW	6	121,865,872 (GRCm39)	missense	probably benign	0.03
R5273:Mug1	UTSW	6	121,850,748 (GRCm39)	missense	probably damaging	0.99
R5285:Mug1	UTSW	6	121,818,066 (GRCm39)	missense	probably benign	0.45
R5387:Mug1	UTSW	6	121,861,353 (GRCm39)	missense	probably damaging	0.99
R5560:Mug1	UTSW	6	121,838,032 (GRCm39)	missense	probably damaging	0.96
R5652:Mug1	UTSW	6	121,817,140 (GRCm39)	missense	probably benign
R5704:Mug1	UTSW	6	121,828,392 (GRCm39)	missense	possibly damaging	0.63
R5732:Mug1	UTSW	6	121,855,452 (GRCm39)	missense	probably benign	0.00
R6053:Mug1	UTSW	6	121,842,697 (GRCm39)	missense	probably benign	0.00
R6173:Mug1	UTSW	6	121,840,752 (GRCm39)	missense	probably damaging	0.99
R6578:Mug1	UTSW	6	121,864,411 (GRCm39)	missense	probably benign	0.00
R6647:Mug1	UTSW	6	121,817,200 (GRCm39)	missense	probably benign	0.02
R6681:Mug1	UTSW	6	121,815,683 (GRCm39)	missense	possibly damaging	0.75
R6925:Mug1	UTSW	6	121,858,746 (GRCm39)	missense	probably damaging	1.00
R7014:Mug1	UTSW	6	121,838,084 (GRCm39)	missense	probably benign	0.22
R7031:Mug1	UTSW	6	121,815,673 (GRCm39)	missense	probably benign	0.00
R7034:Mug1	UTSW	6	121,850,603 (GRCm39)	missense	probably benign	0.00
R7156:Mug1	UTSW	6	121,861,302 (GRCm39)	missense	probably damaging	1.00
R7156:Mug1	UTSW	6	121,857,864 (GRCm39)	missense	probably damaging	1.00
R7179:Mug1	UTSW	6	121,834,379 (GRCm39)	missense	probably benign	0.00
R7211:Mug1	UTSW	6	121,857,498 (GRCm39)	missense	possibly damaging	0.52
R7318:Mug1	UTSW	6	121,847,611 (GRCm39)	critical splice donor site	probably null
R7462:Mug1	UTSW	6	121,852,399 (GRCm39)	missense	probably benign	0.00
R7479:Mug1	UTSW	6	121,855,467 (GRCm39)	missense	possibly damaging	0.83
R7588:Mug1	UTSW	6	121,852,476 (GRCm39)	missense	probably damaging	1.00
R7611:Mug1	UTSW	6	121,852,387 (GRCm39)	critical splice acceptor site	probably null
R7659:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7660:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7661:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7663:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7664:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7666:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7788:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7789:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7794:Mug1	UTSW	6	121,833,247 (GRCm39)	missense	possibly damaging	0.93
R7809:Mug1	UTSW	6	121,855,944 (GRCm39)	missense	possibly damaging	0.79
R7836:Mug1	UTSW	6	121,847,611 (GRCm39)	critical splice donor site	probably null
R7867:Mug1	UTSW	6	121,850,593 (GRCm39)	missense	probably benign
R7904:Mug1	UTSW	6	121,828,424 (GRCm39)	missense	probably benign
R7937:Mug1	UTSW	6	121,838,128 (GRCm39)	missense	probably benign	0.00
R7981:Mug1	UTSW	6	121,858,723 (GRCm39)	missense	probably damaging	1.00
R7999:Mug1	UTSW	6	121,857,855 (GRCm39)	missense	possibly damaging	0.90
R8070:Mug1	UTSW	6	121,852,838 (GRCm39)	missense	probably benign	0.26
R8071:Mug1	UTSW	6	121,850,631 (GRCm39)	missense	probably benign
R8151:Mug1	UTSW	6	121,818,117 (GRCm39)	missense	probably benign	0.01
R8491:Mug1	UTSW	6	121,859,688 (GRCm39)	missense	probably damaging	1.00
R8714:Mug1	UTSW	6	121,859,681 (GRCm39)	missense	probably benign	0.01
R8734:Mug1	UTSW	6	121,848,340 (GRCm39)	missense	probably benign	0.00
R8738:Mug1	UTSW	6	121,817,208 (GRCm39)	splice site	probably benign
R8807:Mug1	UTSW	6	121,851,434 (GRCm39)	missense	probably benign	0.27
R8931:Mug1	UTSW	6	121,861,296 (GRCm39)	missense	probably benign
R8940:Mug1	UTSW	6	121,858,642 (GRCm39)	missense
R9156:Mug1	UTSW	6	121,851,390 (GRCm39)	missense	probably damaging	0.99
R9314:Mug1	UTSW	6	121,834,296 (GRCm39)	missense	probably damaging	0.97
R9315:Mug1	UTSW	6	121,850,730 (GRCm39)	missense	possibly damaging	0.95
R9330:Mug1	UTSW	6	121,859,723 (GRCm39)	missense	probably benign	0.14
R9334:Mug1	UTSW	6	121,838,490 (GRCm39)	missense	probably benign	0.01
R9357:Mug1	UTSW	6	121,852,450 (GRCm39)	missense	probably benign	0.02
R9515:Mug1	UTSW	6	121,861,635 (GRCm39)	missense	probably damaging	1.00
R9549:Mug1	UTSW	6	121,858,762 (GRCm39)	missense	probably damaging	1.00
R9564:Mug1	UTSW	6	121,861,587 (GRCm39)	missense	probably benign	0.03
R9663:Mug1	UTSW	6	121,859,699 (GRCm39)	missense	probably benign	0.03
R9663:Mug1	UTSW	6	121,857,463 (GRCm39)	missense	probably benign	0.08
R9681:Mug1	UTSW	6	121,833,254 (GRCm39)	missense	probably benign	0.01
R9777:Mug1	UTSW	6	121,857,864 (GRCm39)	missense	probably damaging	1.00
RF017:Mug1	UTSW	6	121,861,533 (GRCm39)	missense	probably damaging	1.00
X0064:Mug1	UTSW	6	121,838,174 (GRCm39)	missense	possibly damaging	0.48
Z1176:Mug1	UTSW	6	121,857,452 (GRCm39)	missense	probably damaging	1.00
Z1176:Mug1	UTSW	6	121,818,253 (GRCm39)	missense	probably benign	0.32
Z1177:Mug1	UTSW	6	121,856,258 (GRCm39)	critical splice acceptor site	probably null
Z1177:Mug1	UTSW	6	121,840,767 (GRCm39)	missense	probably damaging	0.99
Z1177:Mug1	UTSW	6	121,863,527 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACAGATAGTGCTGCTGGTATG -3'
(R):5'- GGCTACACATTATTGAGTTCAAGC -3'

Sequencing Primer
(F):5'- GGATTTTCTGGAACCAATTTTTGC -3'
(R):5'- GTTCAAGCTGTTGCAAAGCC -3'

Posted On

2015-09-24