Mutagenetix > Incidental Mutation

Incidental Mutation 'R7211:Mug1'

561067

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

045339-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7211 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121838541-121889057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121880539 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1074 (Q1074L)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032228
AA Change: Q1074L

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: Q1074L

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: 99.6%
20x: 98.6%

Validation Efficiency

99% (84/85)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	G	T	9: 51,290,433	Q108K	probably damaging	Het
9930021J03Rik	A	G	19: 29,786,312	F121S		Het
a	T	A	2: 155,045,779	V53E	probably damaging	Het
A1cf	A	G	19: 31,927,141	Y268C	probably benign	Het
Adamts13	C	T	2: 26,989,298	T621I	probably benign	Het
AI464131	A	G	4: 41,498,028	I534T	probably damaging	Het
Akr1b7	A	T	6: 34,421,114	N293Y	probably benign	Het
Angpt2	T	A	8: 18,741,131	T50S	probably benign	Het
Anks1b	C	A	10: 90,511,070	A744D	possibly damaging	Het
Aqr	A	G	2: 114,134,723	V587A	probably benign	Het
Atm	A	G	9: 53,488,560	V1540A	probably benign	Het
BC022687	T	A	12: 112,811,012		probably null	Het
C4b	A	G	17: 34,735,534	V887A	possibly damaging	Het
Cd200r1	A	G	16: 44,788,757	T26A	probably benign	Het
Ciao1	A	G	2: 127,247,008		probably null	Het
Clca3a2	A	G	3: 144,814,014	C200R	probably benign	Het
Col6a5	T	A	9: 105,928,164	Q1181L	unknown	Het
Copb2	T	A	9: 98,574,145	I244N	probably damaging	Het
Cpb2	A	G	14: 75,274,990	Y281C	probably damaging	Het
Disp3	C	A	4: 148,241,522	V1260F	probably damaging	Het
Dnajc2	C	T	5: 21,776,779	R123Q	probably damaging	Het
Dpysl2	T	C	14: 66,829,976	N162S	probably damaging	Het
Dsp	T	A	13: 38,188,535		probably null	Het
Edc4	T	A	8: 105,886,309		probably null	Het
Epm2a	T	C	10: 11,343,675	Y69H	probably benign	Het
Frzb	C	A	2: 80,418,325	E262*	probably null	Het
Gaa	T	C	11: 119,284,204	V877A	possibly damaging	Het
Gm11639	G	T	11: 104,724,609		probably null	Het
Gm11639	C	A	11: 104,710,713	A284D	probably benign	Het
Gm5346	T	A	8: 43,625,877	S437C	probably damaging	Het
Gpnmb	T	C	6: 49,052,015	I489T	possibly damaging	Het
Gpr31b	T	C	17: 13,052,217	T22A	probably benign	Het
Gys1	T	A	7: 45,448,260	F477Y	possibly damaging	Het
Hoxc11	A	C	15: 102,955,052	E176A	possibly damaging	Het
Kcnk13	T	A	12: 100,061,817	F384I	probably damaging	Het
Ky	A	G	9: 102,509,150	E59G	probably benign	Het
Lama4	T	A	10: 39,005,495	D93E	probably damaging	Het
Lrrc23	A	T	6: 124,778,189	N128K	probably benign	Het
Lrrc71	G	T	3: 87,743,326	Q210K	possibly damaging	Het
Map1a	G	A	2: 121,304,643	R1980H	probably benign	Het
Med15	T	C	16: 17,698,113	D15G	unknown	Het
Mfng	A	T	15: 78,773,068	S69T	probably benign	Het
Muc16	T	G	9: 18,498,570	S181R	probably damaging	Het
Nbea	T	A	3: 56,004,901	N1155I	probably benign	Het
Nbeal1	T	G	1: 60,200,951	L159V	probably damaging	Het
Nudt1	C	A	5: 140,337,647	P118Q	possibly damaging	Het
Olfr450	A	T	6: 42,818,016	T182S	probably benign	Het
Olfr970	A	C	9: 39,819,858	Q73P	possibly damaging	Het
Pcdhga6	T	A	18: 37,709,120	V631D	probably benign	Het
Pcna	A	C	2: 132,249,872	V203G	probably damaging	Het
Pgf	G	T	12: 85,175,775	N33K	probably benign	Het
Pgm1	T	C	5: 64,105,850	L280P	probably damaging	Het
Plcg1	G	A	2: 160,731,874	A20T	probably benign	Het
Prdx5	G	T	19: 6,907,590	D126E	probably damaging	Het
Prkag2	T	C	5: 24,995,298	T20A	probably benign	Het
Prr14l	T	A	5: 32,830,087	Q688L	probably damaging	Het
Pxdn	T	G	12: 29,984,904	D253E	possibly damaging	Het
Rbm18	A	T	2: 36,122,893	C53*	probably null	Het
Rprm	A	T	2: 54,085,258	L16Q	probably benign	Het
Saysd1	A	G	14: 20,077,508	F116S	probably damaging	Het
Scg3	A	G	9: 75,682,084	S96P	probably benign	Het
Scgb1b3	C	T	7: 31,375,653	L16F	unknown	Het
Sh3tc2	A	G	18: 61,989,403	T412A	probably benign	Het
Skint6	T	C	4: 113,238,369	N31S	probably benign	Het
Slc22a2	T	C	17: 12,586,883		probably null	Het
Slc8a2	C	T	7: 16,140,613	T262I	possibly damaging	Het
Smarcc1	A	T	9: 110,150,014	K188N	probably damaging	Het
Taf6	T	C	5: 138,178,826	T660A	possibly damaging	Het
Tbx2	C	T	11: 85,834,714	R164C	probably damaging	Het
Tec	T	C	5: 72,782,012	D220G	probably null	Het
Tfec	A	T	6: 16,867,465	W59R	probably damaging	Het
Tmtc2	G	T	10: 105,573,726	S8R	probably benign	Het
Tmtc3	A	T	10: 100,447,605	M696K	probably benign	Het
Trpc3	A	T	3: 36,640,733	S691T	possibly damaging	Het
Ttf2	A	T	3: 100,959,307	M503K	probably benign	Het
Ttll7	A	G	3: 146,913,276	H312R	probably damaging	Het
Ttn	T	C	2: 76,767,688	Y19627C	probably damaging	Het
Ugt2b35	T	C	5: 87,001,318	S143P	probably benign	Het
Usp53	A	G	3: 122,957,650	S253P	probably damaging	Het
Utp18	A	G	11: 93,885,380	V93A	probably benign	Het
Utrn	T	C	10: 12,401,335	N3413D	possibly damaging	Het
Zhx1	T	C	15: 58,053,251	D533G	possibly damaging	Het

Other mutations in Mug1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Mug1	APN	6	121865809	missense	probably damaging	1.00
IGL00485:Mug1	APN	6	121887416	missense	probably benign	0.17
IGL00816:Mug1	APN	6	121882638	missense	probably damaging	0.99
IGL01140:Mug1	APN	6	121882734	missense	probably benign	0.01
IGL01141:Mug1	APN	6	121870499	missense	probably benign	0.08
IGL01384:Mug1	APN	6	121849474	splice site	probably benign
IGL01659:Mug1	APN	6	121870660	splice site	probably benign
IGL02049:Mug1	APN	6	121871336	missense	probably benign
IGL02151:Mug1	APN	6	121884690	critical splice donor site	probably null
IGL02315:Mug1	APN	6	121840167	missense	probably benign
IGL02629:Mug1	APN	6	121840065	missense	possibly damaging	0.62
IGL02642:Mug1	APN	6	121882585	missense	probably benign	0.14
IGL02807:Mug1	APN	6	121886572	missense	probably damaging	0.96
IGL02932:Mug1	APN	6	121887427	missense	probably benign	0.35
IGL03232:Mug1	APN	6	121878535	missense	probably benign	0.00
R1462_Mug1_304	UTSW	6	121882629	missense	probably benign	0.41
R2341_Mug1_749	UTSW	6	121884629	missense	probably benign	0.06
R4261_Mug1_652	UTSW	6	121873734	missense	probably benign
R6173_mug1_139	UTSW	6	121863793	missense	probably damaging	0.99
IGL03050:Mug1	UTSW	6	121880571	missense	possibly damaging	0.90
R0101:Mug1	UTSW	6	121884247	missense	possibly damaging	0.59
R0194:Mug1	UTSW	6	121840107	missense	probably damaging	0.98
R0196:Mug1	UTSW	6	121838725	critical splice donor site	probably null
R0325:Mug1	UTSW	6	121849842	missense	probably benign
R0332:Mug1	UTSW	6	121849897	splice site	probably null
R0377:Mug1	UTSW	6	121857361	missense	probably benign	0.02
R0393:Mug1	UTSW	6	121849850	missense	possibly damaging	0.64
R0414:Mug1	UTSW	6	121856554	missense	probably benign	0.00
R0457:Mug1	UTSW	6	121861555	missense	probably benign	0.06
R0479:Mug1	UTSW	6	121840227	missense	probably benign
R0519:Mug1	UTSW	6	121851424	missense	possibly damaging	0.83
R0535:Mug1	UTSW	6	121851454	missense	probably benign
R0745:Mug1	UTSW	6	121887427	missense	probably benign	0.35
R0939:Mug1	UTSW	6	121884349	missense	possibly damaging	0.95
R0975:Mug1	UTSW	6	121878539	missense	probably damaging	0.99
R1033:Mug1	UTSW	6	121880551	missense	probably damaging	0.99
R1086:Mug1	UTSW	6	121885854	missense	probably damaging	1.00
R1116:Mug1	UTSW	6	121870645	missense	probably benign
R1131:Mug1	UTSW	6	121861185	missense	probably benign	0.18
R1249:Mug1	UTSW	6	121849461	missense	probably benign	0.07
R1364:Mug1	UTSW	6	121881713	missense	probably damaging	1.00
R1418:Mug1	UTSW	6	121838676	missense	probably benign	0.00
R1462:Mug1	UTSW	6	121882629	missense	probably benign	0.41
R1462:Mug1	UTSW	6	121882629	missense	probably benign	0.41
R1494:Mug1	UTSW	6	121879300	missense	probably damaging	1.00
R1639:Mug1	UTSW	6	121880571	missense	probably damaging	1.00
R1901:Mug1	UTSW	6	121881821	missense	probably benign
R1902:Mug1	UTSW	6	121881821	missense	probably benign
R2087:Mug1	UTSW	6	121856291	missense	probably benign	0.00
R2168:Mug1	UTSW	6	121870499	missense	probably benign	0.08
R2249:Mug1	UTSW	6	121870510	missense	probably benign
R2341:Mug1	UTSW	6	121884629	missense	probably benign	0.06
R2888:Mug1	UTSW	6	121881843	missense	probably benign	0.44
R2892:Mug1	UTSW	6	121840070	missense	possibly damaging	0.91
R3703:Mug1	UTSW	6	121888556	splice site	probably benign
R3789:Mug1	UTSW	6	121884628	missense	probably benign	0.03
R3790:Mug1	UTSW	6	121884628	missense	probably benign	0.03
R3950:Mug1	UTSW	6	121878530	missense	probably damaging	1.00
R4261:Mug1	UTSW	6	121873734	missense	probably benign
R4402:Mug1	UTSW	6	121879352	missense	probably damaging	1.00
R4589:Mug1	UTSW	6	121857351	missense	probably benign	0.19
R4707:Mug1	UTSW	6	121884641	missense	probably damaging	1.00
R4766:Mug1	UTSW	6	121884254	missense	probably benign	0.01
R4840:Mug1	UTSW	6	121885854	missense	probably damaging	1.00
R4984:Mug1	UTSW	6	121838617	utr 5 prime	probably benign
R4999:Mug1	UTSW	6	121878943	nonsense	probably null
R5198:Mug1	UTSW	6	121874562	missense	probably damaging	1.00
R5220:Mug1	UTSW	6	121861133	missense	probably benign	0.03
R5253:Mug1	UTSW	6	121888913	missense	probably benign	0.03
R5273:Mug1	UTSW	6	121873789	missense	probably damaging	0.99
R5285:Mug1	UTSW	6	121841107	missense	probably benign	0.45
R5387:Mug1	UTSW	6	121884394	missense	probably damaging	0.99
R5560:Mug1	UTSW	6	121861073	missense	probably damaging	0.96
R5652:Mug1	UTSW	6	121840181	missense	probably benign
R5704:Mug1	UTSW	6	121851433	missense	possibly damaging	0.63
R5732:Mug1	UTSW	6	121878493	missense	probably benign	0.00
R6053:Mug1	UTSW	6	121865738	missense	probably benign	0.00
R6173:Mug1	UTSW	6	121863793	missense	probably damaging	0.99
R6578:Mug1	UTSW	6	121887452	missense	probably benign	0.00
R6647:Mug1	UTSW	6	121840241	missense	probably benign	0.02
R6681:Mug1	UTSW	6	121838724	missense	possibly damaging	0.75
R6925:Mug1	UTSW	6	121881787	missense	probably damaging	1.00
R7014:Mug1	UTSW	6	121861125	missense	probably benign	0.22
R7031:Mug1	UTSW	6	121838714	missense	probably benign	0.00
R7034:Mug1	UTSW	6	121873644	missense	probably benign	0.00
R7156:Mug1	UTSW	6	121880905	missense	probably damaging	1.00
R7156:Mug1	UTSW	6	121884343	missense	probably damaging	1.00
R7179:Mug1	UTSW	6	121857420	missense	probably benign	0.00
R7318:Mug1	UTSW	6	121870652	critical splice donor site	probably null
R7462:Mug1	UTSW	6	121875440	missense	probably benign	0.00
R7479:Mug1	UTSW	6	121878508	missense	possibly damaging	0.83
R7588:Mug1	UTSW	6	121875517	missense	probably damaging	1.00
R7611:Mug1	UTSW	6	121875428	critical splice acceptor site	probably null
R7659:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7660:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7661:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7663:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7664:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7666:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7788:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7789:Mug1	UTSW	6	121861220	missense	possibly damaging	0.95
R7794:Mug1	UTSW	6	121856288	missense	possibly damaging	0.93
R7809:Mug1	UTSW	6	121878985	missense	possibly damaging	0.79
R7836:Mug1	UTSW	6	121870652	critical splice donor site	probably null
R7867:Mug1	UTSW	6	121873634	missense	probably benign
R7904:Mug1	UTSW	6	121851465	missense	probably benign
R7937:Mug1	UTSW	6	121861169	missense	probably benign	0.00
R7981:Mug1	UTSW	6	121881764	missense	probably damaging	1.00
R7999:Mug1	UTSW	6	121880896	missense	possibly damaging	0.90
R8070:Mug1	UTSW	6	121875879	missense	probably benign	0.26
R8071:Mug1	UTSW	6	121873672	missense	probably benign
R8151:Mug1	UTSW	6	121841158	missense	probably benign	0.01
R8491:Mug1	UTSW	6	121882729	missense	probably damaging	1.00
R8714:Mug1	UTSW	6	121882722	missense	probably benign	0.01
R8734:Mug1	UTSW	6	121871381	missense	probably benign	0.00
R8738:Mug1	UTSW	6	121840249	splice site	probably benign
R8807:Mug1	UTSW	6	121874475	missense	probably benign	0.27
R8931:Mug1	UTSW	6	121884337	missense	probably benign
R8940:Mug1	UTSW	6	121881683	missense
R9156:Mug1	UTSW	6	121874431	missense	probably damaging	0.99
R9314:Mug1	UTSW	6	121857337	missense	probably damaging	0.97
R9315:Mug1	UTSW	6	121873771	missense	possibly damaging	0.95
R9330:Mug1	UTSW	6	121882764	missense	probably benign	0.14
R9334:Mug1	UTSW	6	121861531	missense	probably benign	0.01
R9357:Mug1	UTSW	6	121875491	missense	probably benign	0.02
R9515:Mug1	UTSW	6	121884676	missense	probably damaging	1.00
R9549:Mug1	UTSW	6	121881803	missense	probably damaging	1.00
R9564:Mug1	UTSW	6	121884628	missense	probably benign	0.03
R9663:Mug1	UTSW	6	121880504	missense	probably benign	0.08
R9663:Mug1	UTSW	6	121882740	missense	probably benign	0.03
R9681:Mug1	UTSW	6	121856295	missense	probably benign	0.01
R9777:Mug1	UTSW	6	121880905	missense	probably damaging	1.00
RF017:Mug1	UTSW	6	121884574	missense	probably damaging	1.00
X0064:Mug1	UTSW	6	121861215	missense	possibly damaging	0.48
Z1176:Mug1	UTSW	6	121841294	missense	probably benign	0.32
Z1176:Mug1	UTSW	6	121880493	missense	probably damaging	1.00
Z1177:Mug1	UTSW	6	121863808	missense	probably damaging	0.99
Z1177:Mug1	UTSW	6	121879299	critical splice acceptor site	probably null
Z1177:Mug1	UTSW	6	121886568	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGTCATGAGACTGGACTGGG -3'
(R):5'- GGCCAATCCACATATTCAATGG -3'

Sequencing Primer
(F):5'- GCCCCTGGAAACCCATGTTTATAG -3'
(R):5'- TCCACATATTCAATGGAAATTCCC -3'

Posted On

2019-06-26