Mutagenetix > Incidental Mutation

Incidental Mutation 'R7611:Mug1'

588596

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

045715-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7611 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121815500-121866016 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to T at 121852387 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably null
Transcript: ENSMUST00000032228

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Adcy8	C	T	15: 64,792,882 (GRCm39)	G25S	probably benign	Het
Ahnak2	G	T	12: 112,751,749 (GRCm39)	D35E		Het
Birc6	T	C	17: 74,969,713 (GRCm39)	M4261T	probably damaging	Het
Caln1	T	G	5: 130,534,918 (GRCm39)	F45V	probably damaging	Het
Camta2	A	T	11: 70,572,372 (GRCm39)	I313N	possibly damaging	Het
Capns1	T	A	7: 29,889,539 (GRCm39)	E220V	probably damaging	Het
Carmil1	C	A	13: 24,197,315 (GRCm39)	V1374L	probably benign	Het
Casp2	T	G	6: 42,250,972 (GRCm39)	L290R	possibly damaging	Het
Cdkn2b	C	A	4: 89,228,980 (GRCm39)	V19L	probably benign	Het
Ces1c	T	C	8: 93,851,139 (GRCm39)	N162D	probably benign	Het
Cfap96	A	G	8: 46,423,488 (GRCm39)	Y75H	probably damaging	Het
Chd9	T	C	8: 91,763,017 (GRCm39)	S2281P	probably damaging	Het
Chst13	T	C	6: 90,285,999 (GRCm39)	D321G	probably damaging	Het
Ckap2l	G	T	2: 129,127,600 (GRCm39)	P193T	possibly damaging	Het
Clca4b	T	A	3: 144,627,757 (GRCm39)	T405S	probably benign	Het
Cmah	T	C	13: 24,619,630 (GRCm39)	V265A	probably benign	Het
Cyp3a11	A	T	5: 145,797,191 (GRCm39)	M396K	probably benign	Het
Ddr2	A	T	1: 169,825,727 (GRCm39)	M291K	possibly damaging	Het
Ddx43	T	A	9: 78,309,635 (GRCm39)	I145N	probably benign	Het
Ephb2	T	A	4: 136,388,212 (GRCm39)		probably null	Het
Fgfr1	A	T	8: 26,048,221 (GRCm39)	K106*	probably null	Het
Gpr6	A	G	10: 40,946,875 (GRCm39)	F236L	probably benign	Het
Grin2c	A	G	11: 115,143,511 (GRCm39)	S750P	probably damaging	Het
Hecw2	A	G	1: 53,952,459 (GRCm39)	S925P	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Hmg20b	T	A	10: 81,185,432 (GRCm39)		probably benign	Het
Kcnk10	T	A	12: 98,484,899 (GRCm39)	Y79F	probably damaging	Het
Lrrc30	A	T	17: 67,939,424 (GRCm39)	F52Y	probably damaging	Het
Lrriq1	T	C	10: 103,036,432 (GRCm39)	K907R	possibly damaging	Het
Mbd3	T	C	10: 80,231,352 (GRCm39)	D63G	probably damaging	Het
Mettl21a	C	T	1: 64,654,266 (GRCm39)	A84T	probably benign	Het
Mmp19	A	G	10: 128,634,857 (GRCm39)	D491G	probably benign	Het
Myh1	A	T	11: 67,101,243 (GRCm39)	H673L	possibly damaging	Het
Nlrc5	T	C	8: 95,239,276 (GRCm39)		probably null	Het
Nme9	T	A	9: 99,352,843 (GRCm39)	S264R	probably benign	Het
Nup153	T	C	13: 46,840,798 (GRCm39)	T937A	probably benign	Het
Obsl1	T	C	1: 75,482,024 (GRCm39)	E282G	probably damaging	Het
Or1o3	A	G	17: 37,573,745 (GRCm39)	V270A	probably benign	Het
Or2w2	A	G	13: 21,758,488 (GRCm39)	V46A	probably benign	Het
Or4l15	C	A	14: 50,198,368 (GRCm39)	A54S	probably benign	Het
Or5an10	T	A	19: 12,276,242 (GRCm39)	M85L	probably damaging	Het
Or5b99	T	A	19: 12,976,431 (GRCm39)	I27N	possibly damaging	Het
Or5m5	T	A	2: 85,814,407 (GRCm39)	C74*	probably null	Het
Or8k30	T	A	2: 86,339,397 (GRCm39)	I198K	possibly damaging	Het
Pcdhga12	T	C	18: 37,901,478 (GRCm39)	F770S	possibly damaging	Het
Pfkp	T	A	13: 6,655,119 (GRCm39)		probably null	Het
Prr29	C	G	11: 106,267,158 (GRCm39)	H58D	probably damaging	Het
Ptprz1	T	A	6: 23,001,219 (GRCm39)	M1103K	probably benign	Het
Rigi	T	C	4: 40,225,651 (GRCm39)	E250G	probably damaging	Het
Rsph4a	C	T	10: 33,781,473 (GRCm39)	P108S	probably benign	Het
Setd1b	A	C	5: 123,290,657 (GRCm39)	M875L	unknown	Het
Slc15a2	A	G	16: 36,576,673 (GRCm39)	S485P	probably benign	Het
Smoc1	A	G	12: 81,226,444 (GRCm39)	D423G	probably damaging	Het
Spast	T	A	17: 74,676,198 (GRCm39)	V337D	probably damaging	Het
Spesp1	T	C	9: 62,179,987 (GRCm39)	K307R	possibly damaging	Het
Sulf1	A	G	1: 12,906,467 (GRCm39)	E503G	probably benign	Het
Susd6	T	C	12: 80,921,341 (GRCm39)	Y313H	probably damaging	Het
Them4	A	T	3: 94,238,865 (GRCm39)	D224V	possibly damaging	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Tspear	A	T	10: 77,717,049 (GRCm39)	T575S	probably benign	Het
Usp21	A	T	1: 171,113,142 (GRCm39)	H211Q	probably benign	Het
Vmn1r189	T	C	13: 22,286,322 (GRCm39)	S172G	probably benign	Het
Vmn2r114	T	C	17: 23,515,944 (GRCm39)	S516G	probably damaging	Het
Vmn2r28	T	A	7: 5,484,255 (GRCm39)	R648S	probably benign	Het
Vmn2r6	C	A	3: 64,472,563 (GRCm39)	V53F	probably damaging	Het
Vmn2r76	A	G	7: 85,879,388 (GRCm39)	I304T	probably benign	Het
Vmn2r88	A	C	14: 51,651,454 (GRCm39)	Y256S		Het
Zfhx4	A	T	3: 5,468,831 (GRCm39)	K3021N	probably damaging	Het
Zfp647	T	C	15: 76,795,988 (GRCm39)	H224R	probably damaging	Het
Zfp865	A	G	7: 5,034,130 (GRCm39)	E705G	probably 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
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
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'- TCCCCATAAGACTTTGGCTTAC -3'
(R):5'- GACTGGGCACTTCCTCTTTG -3'

Sequencing Primer
(F):5'- AAGACTTTGGCTTACCTACTACCATG -3'
(R):5'- TCTTTGGGACCCAATGAGAAG -3'

Posted On

2019-10-24