Mutagenetix > Incidental Mutation

Incidental Mutation 'R7479:Mug1'

579665

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

045553-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7479 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121815500-121866016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 121855467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 934 (S934T)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032228
AA Change: S934T

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: S934T

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: 99.9%
10x: 99.5%
20x: 98.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	A	3: 124,372,142 (GRCm39)	M81L	probably benign	Het
Ano9	T	C	7: 140,682,348 (GRCm39)	T667A	probably damaging	Het
Anpep	T	A	7: 79,485,118 (GRCm39)	I623F	probably benign	Het
Apba2	T	C	7: 64,389,607 (GRCm39)	I501T	possibly damaging	Het
Ascc3	T	A	10: 50,525,895 (GRCm39)	Y536N	probably damaging	Het
B4galt1	T	C	4: 40,823,587 (GRCm39)	Y168C	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
C2	A	G	17: 35,082,441 (GRCm39)	C647R	probably damaging	Het
Cnot4	G	A	6: 35,001,083 (GRCm39)	T604I	probably benign	Het
Col11a1	C	T	3: 113,896,218 (GRCm39)	T506I	unknown	Het
Cr2	A	C	1: 194,840,718 (GRCm39)		probably null	Het
Ctsm	A	T	13: 61,685,569 (GRCm39)	V281D	probably damaging	Het
Cyp2c69	T	C	19: 39,870,001 (GRCm39)	I74V	probably benign	Het
Dennd4c	T	A	4: 86,717,590 (GRCm39)	V529D	probably damaging	Het
Dlgap3	C	A	4: 127,088,418 (GRCm39)	H5N	possibly damaging	Het
Dusp10	C	A	1: 183,769,617 (GRCm39)	H194Q	probably damaging	Het
Eln	C	G	5: 134,736,429 (GRCm39)	G753A	unknown	Het
Emb	T	A	13: 117,385,962 (GRCm39)	N118K	possibly damaging	Het
Fam184a	C	T	10: 53,531,110 (GRCm39)	V755I	probably benign	Het
Fryl	A	G	5: 73,254,904 (GRCm39)	I846T	possibly damaging	Het
Gabbr2	T	A	4: 46,681,166 (GRCm39)	I722F	probably damaging	Het
Gabrb3	T	A	7: 57,474,171 (GRCm39)	D362E	possibly damaging	Het
Galnt2	G	A	8: 125,061,077 (GRCm39)	G357D	probably damaging	Het
Gbx2	A	T	1: 89,858,373 (GRCm39)	S35R	probably benign	Het
Glg1	A	G	8: 111,924,367 (GRCm39)	I207T	possibly damaging	Het
Gm10192	A	T	4: 97,071,272 (GRCm39)	N44K	unknown	Het
Gpd1	A	G	15: 99,617,984 (GRCm39)	D123G	probably benign	Het
Grm2	A	T	9: 106,531,050 (GRCm39)	D146E	possibly damaging	Het
Gsg1l2	A	G	11: 67,676,032 (GRCm39)	D132G	probably benign	Het
Hecw1	C	T	13: 14,515,425 (GRCm39)	G236R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hspg2	C	T	4: 137,266,714 (GRCm39)	A1934V	probably benign	Het
Il7r	C	T	15: 9,513,117 (GRCm39)	A131T	probably damaging	Het
Itga6	C	T	2: 71,668,680 (GRCm39)	R540*	probably null	Het
Kcnh2	A	G	5: 24,530,490 (GRCm39)		probably null	Het
Kcnq4	C	T	4: 120,573,022 (GRCm39)	A260T	probably damaging	Het
Lrp1b	T	C	2: 40,691,517 (GRCm39)	N3434S		Het
Lrrc41	C	T	4: 115,946,238 (GRCm39)	P318S	probably damaging	Het
Map4	G	A	9: 109,897,892 (GRCm39)	G873R	possibly damaging	Het
Med24	A	G	11: 98,595,787 (GRCm39)	I968T	possibly damaging	Het
Mfap5	T	C	6: 122,503,821 (GRCm39)		probably null	Het
Mtcl1	A	G	17: 66,686,485 (GRCm39)	V807A	probably benign	Het
Nckap5l	C	A	15: 99,321,127 (GRCm39)	V1218F	probably damaging	Het
Nek1	T	A	8: 61,583,179 (GRCm39)	D1272E	probably benign	Het
Nkx2-4	T	C	2: 146,926,088 (GRCm39)	E258G	probably benign	Het
Polr1a	T	A	6: 71,913,281 (GRCm39)	V545E	probably damaging	Het
Ppp1r9b	A	G	11: 94,882,858 (GRCm39)	D162G	possibly damaging	Het
Rhot2	A	G	17: 26,059,723 (GRCm39)	L367P	probably damaging	Het
Ripk2	A	G	4: 16,155,154 (GRCm39)	F122L	probably benign	Het
Scn11a	T	C	9: 119,588,941 (GRCm39)	T1322A	probably benign	Het
Scn8a	T	A	15: 100,853,358 (GRCm39)	L115Q	probably damaging	Het
Sel1l3	G	T	5: 53,274,462 (GRCm39)	P1006Q	probably damaging	Het
Septin11	A	T	5: 93,304,804 (GRCm39)	N207I	probably damaging	Het
Sez6l2	C	T	7: 126,562,831 (GRCm39)	T669I	probably damaging	Het
Sfxn4	T	A	19: 60,847,112 (GRCm39)	D57V	possibly damaging	Het
Smarca2	T	A	19: 26,617,887 (GRCm39)	V306D	probably benign	Het
Srgap3	C	T	6: 112,712,794 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,541 (GRCm39)	F7L	not run	Het
Tbcd	T	C	11: 121,383,431 (GRCm39)		probably null	Het
Tcn2	G	A	11: 3,867,703 (GRCm39)	A413V	probably damaging	Het
Tdp1	T	C	12: 99,857,654 (GRCm39)	V71A	probably benign	Het
Tjp1	T	C	7: 64,950,928 (GRCm39)	T1649A	probably damaging	Het
Tnc	T	C	4: 63,935,865 (GRCm39)	E357G	possibly damaging	Het
Tnrc6b	A	G	15: 80,773,327 (GRCm39)	T1158A	probably benign	Het
Ttn	C	A	2: 76,568,952 (GRCm39)	E27314*	probably null	Het
Vps35	G	T	8: 85,997,434 (GRCm39)	T512K	probably benign	Het
Zfp40	A	T	17: 23,396,292 (GRCm39)	S98R	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp945	A	T	17: 23,070,340 (GRCm39)	C541S	possibly damaging	Het
Zfp976	T	A	7: 42,262,603 (GRCm39)	E412D	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
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
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'- GCTTGACAAACCTGTGGTATCAG -3'
(R):5'- CTGGAAGCCAGTGGGAATTG -3'

Sequencing Primer
(F):5'- CTGTGGTATCAGGAATCGTGG -3'
(R):5'- GCCAGTGGGAATTGAGGGG -3'

Posted On

2019-10-07