Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Mug1'

425330

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121815500-121866016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121861353 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1325 (Y1325H)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably damaging
Transcript: ENSMUST00000032228
AA Change: Y1325H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: Y1325H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204210

Meta Mutation Damage Score

0.3029

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	A	13: 77,408,092 (GRCm39)	S140T	probably benign	Het
Ahnak	T	C	19: 8,981,055 (GRCm39)	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,767,697 (GRCm39)	H1205N	probably damaging	Het
Ano1	T	C	7: 144,202,356 (GRCm39)	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573 (GRCm39)	C114W	probably damaging	Het
Ascl1	C	T	10: 87,328,551 (GRCm39)	A134T	probably damaging	Het
Atl2	C	T	17: 80,160,229 (GRCm39)	E453K	probably benign	Het
Aup1	C	T	6: 83,032,005 (GRCm39)	A84V	probably damaging	Het
Btbd7	A	T	12: 102,804,044 (GRCm39)	M332K	probably damaging	Het
Cacna1d	A	G	14: 29,822,708 (GRCm39)	V1107A	probably damaging	Het
Cd33	G	A	7: 43,181,477 (GRCm39)	Q114*	probably null	Het
Cdhr18	C	A	14: 13,914,438 (GRCm38)	M1I	probably null	Het
Col4a4	C	T	1: 82,471,312 (GRCm39)	G681E	unknown	Het
Defb22	C	A	2: 152,327,826 (GRCm39)	A120S	unknown	Het
Dnah7b	A	G	1: 46,227,819 (GRCm39)	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,025,668 (GRCm39)	I549T	possibly damaging	Het
Esp15	T	A	17: 39,955,468 (GRCm39)		probably null	Het
Fbxo7	A	G	10: 85,860,518 (GRCm39)	T42A	probably benign	Het
Filip1	A	G	9: 79,725,556 (GRCm39)	I1021T	probably benign	Het
Gad1	C	A	2: 70,394,195 (GRCm39)	S7*	probably null	Het
H2ac7	T	A	13: 23,758,841 (GRCm39)		probably null	Het
H2-Q7	C	T	17: 35,658,518 (GRCm39)	T52M	probably damaging	Het
H2-T3	C	T	17: 36,497,594 (GRCm39)	G28R	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ift81	A	G	5: 122,693,598 (GRCm39)	Y604H	probably damaging	Het
Igsf11	A	G	16: 38,842,785 (GRCm39)	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,742,441 (GRCm39)	A846S	probably benign	Het
Lnx2	G	A	5: 146,964,964 (GRCm39)	P420S	probably benign	Het
Lrit2	A	G	14: 36,794,216 (GRCm39)	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,637,734 (GRCm39)		probably null	Het
Mettl25b	A	T	3: 87,837,318 (GRCm39)		probably benign	Het
Naglu	A	T	11: 100,967,550 (GRCm39)	Y500F	probably damaging	Het
Npy4r	A	G	14: 33,868,940 (GRCm39)	M116T	probably benign	Het
Nrdc	A	G	4: 108,896,959 (GRCm39)	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,801,972 (GRCm39)	S472P	probably benign	Het
Or12d2	T	A	17: 37,625,183 (GRCm39)	T31S	probably benign	Het
Or12k8	T	C	2: 36,975,731 (GRCm39)	T10A	possibly damaging	Het
Otogl	T	A	10: 107,616,794 (GRCm39)	T1828S	probably benign	Het
Pank2	C	T	2: 131,116,182 (GRCm39)	T200I	probably benign	Het
Pbrm1	A	G	14: 30,804,567 (GRCm39)	Y946C	probably damaging	Het
Pde12	A	T	14: 26,387,608 (GRCm39)	S437T	probably benign	Het
Pikfyve	A	G	1: 65,304,427 (GRCm39)	K1710E	possibly damaging	Het
Plcd3	A	G	11: 102,969,281 (GRCm39)	S229P	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 104,897,374 (GRCm39)	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873 (GRCm38)	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,321,303 (GRCm39)	S620P	probably damaging	Het
Rab33b	A	G	3: 51,400,876 (GRCm39)	T117A	probably damaging	Het
Rasal2	T	C	1: 156,985,335 (GRCm39)	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,678,370 (GRCm39)	T773A	possibly damaging	Het
Rspry1	A	G	8: 95,364,914 (GRCm39)	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,887,356 (GRCm39)		probably benign	Het
Setx	C	T	2: 29,037,606 (GRCm39)	R1364C	probably benign	Het
Shtn1	G	T	19: 59,026,801 (GRCm39)	L97M	probably damaging	Het
Slc35f1	T	C	10: 52,984,260 (GRCm39)	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,728,366 (GRCm39)		probably benign	Het
Slmap	T	C	14: 26,181,088 (GRCm39)	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096 (GRCm39)	A924V	probably benign	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Tecta	G	A	9: 42,286,359 (GRCm39)	L766F	probably damaging	Het
Tle3	C	T	9: 61,314,771 (GRCm39)		probably null	Het
Top3a	A	G	11: 60,653,316 (GRCm39)	F53L	probably damaging	Het
Trappc2b	A	T	11: 51,576,801 (GRCm39)	D32E	probably benign	Het
Trem1	T	C	17: 48,548,541 (GRCm39)	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,413,222 (GRCm39)	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 89,913,903 (GRCm39)	Y975C	probably benign	Het
Ubxn11	C	A	4: 133,850,737 (GRCm39)	D196E	probably damaging	Het
Unc80	A	G	1: 66,569,180 (GRCm39)	H945R	possibly damaging	Het
Usp15	A	G	10: 122,967,191 (GRCm39)	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339 (GRCm39)	E138K	probably damaging	Het
Wapl	A	G	14: 34,399,252 (GRCm39)	E107G	probably benign	Het
Wbp1l	T	C	19: 46,632,896 (GRCm39)		probably null	Het
Zfp184	T	G	13: 22,133,810 (GRCm39)		probably benign	Het
Zfp36	A	C	7: 28,077,293 (GRCm39)	L205R	possibly damaging	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
R4589:Mug1	UTSW	6	121,834,310 (GRCm39)	missense	probably benign	0.19
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
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'- CCTTGATGCTCTGTCCAAATATG -3'
(R):5'- ACAGCTGCTTCTCCAAGTGC -3'

Sequencing Primer
(F):5'- AATATGGAGCAGTGACTTTTTCGAG -3'
(R):5'- CAAGTGCATGTTGTATCTCAGC -3'

Posted On

2016-08-04