Mutagenetix > Incidental Mutation

Incidental Mutation 'R5253:Mug1'

472476

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

042824-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5253 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121838541-121889057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 121888913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1472 (D1472V)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably benign
Transcript: ENSMUST00000032228
AA Change: D1472V

PolyPhen 2 Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: D1472V

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: ENSMUST00000204210

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

99% (72/73)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	T	C	9: 40,051,450		noncoding transcript	Het
Actrt2	A	C	4: 154,667,569	S37A	possibly damaging	Het
Adcy7	T	C	8: 88,314,114	I327T	probably damaging	Het
Ankrd13b	A	G	11: 77,473,235		probably benign	Het
Arap1	A	C	7: 101,388,644	I237L	probably benign	Het
Arhgap17	A	T	7: 123,303,748	Y359N	probably benign	Het
Atad1	A	G	19: 32,674,302	M343T	probably benign	Het
Cacna1b	A	T	2: 24,719,952	I392N	probably damaging	Het
Cacna1c	A	G	6: 118,597,969	S1914P	probably benign	Het
Cd300a	G	T	11: 114,894,751	R174L	probably benign	Het
Dip2a	G	A	10: 76,299,997	P356L	probably damaging	Het
Dsg1c	T	C	18: 20,272,379	L283P	probably damaging	Het
Dusp1	T	C	17: 26,508,217	N36S	probably benign	Het
Ercc3	C	A	18: 32,269,864	P776Q	probably damaging	Het
Etv1	A	G	12: 38,852,249	R260G	possibly damaging	Het
Fa2h	C	G	8: 111,349,237	M251I	probably benign	Het
Flg2	A	G	3: 93,200,812	D49G	probably damaging	Het
Fras1	A	G	5: 96,741,025	E2810G	probably damaging	Het
Fuk	T	C	8: 110,883,867	E968G	possibly damaging	Het
Gabbr1	T	C	17: 37,055,913	F343S	possibly damaging	Het
Gdf2	A	G	14: 33,945,307	T329A	probably benign	Het
Hcn4	T	A	9: 58,824,275	I255N	unknown	Het
Hk3	T	G	13: 55,011,011	D485A	probably damaging	Het
Hook3	T	C	8: 26,072,291	T249A	probably benign	Het
Kcp	C	T	6: 29,498,520		probably benign	Het
Kifc2	G	T	15: 76,666,281	R515L	possibly damaging	Het
Kiss1r	A	G	10: 79,920,750	Y142C	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Klrb1a	T	A	6: 128,619,163	I72L	probably benign	Het
Lep	T	A	6: 29,070,863	F62Y	probably damaging	Het
Lrtm1	A	G	14: 29,021,844	T90A	probably benign	Het
Ncor2	G	T	5: 125,026,930	P1988Q	probably benign	Het
Nlrp4a	C	T	7: 26,450,492	S508L	probably benign	Het
Obp2b	T	A	2: 25,737,143	D29E	probably benign	Het
Olfr1123	G	A	2: 87,418,668	V207M	possibly damaging	Het
Olfr1214	A	G	2: 88,988,100	L34P	possibly damaging	Het
Olfr1224-ps1	A	T	2: 89,156,457	C239*	probably null	Het
Olfr725	T	C	14: 50,035,288	I38M	possibly damaging	Het
Olfr803	A	G	10: 129,691,732	I103T	probably damaging	Het
Otof	A	G	5: 30,370,139	S1985P	probably damaging	Het
Oxct2a	A	T	4: 123,323,093	V165E	probably damaging	Het
Papd5	C	A	8: 88,200,023	H20Q	possibly damaging	Het
Pcdhgb7	T	C	18: 37,753,097	V440A	possibly damaging	Het
Pelp1	C	A	11: 70,401,661	G211C	probably damaging	Het
Phox2a	A	G	7: 101,822,105	H268R	probably benign	Het
Pik3c2g	T	C	6: 139,896,257		probably null	Het
Pramel1	T	A	4: 143,398,586	M360K	probably benign	Het
Rbm6	C	T	9: 107,852,657	R132K	probably damaging	Het
Slc22a30	G	A	19: 8,344,393	Q436*	probably null	Het
Slc45a1	T	C	4: 150,638,270	T386A	probably damaging	Het
Smad2	A	G	18: 76,288,053	Y151C	probably damaging	Het
Sptbn2	G	A	19: 4,750,082	G2188D	probably benign	Het
Sugt1	G	A	14: 79,602,901		probably null	Het
Tctn3	T	C	19: 40,607,241	S367G	probably benign	Het
Tead1	G	T	7: 112,861,545	D219Y	probably damaging	Het
Tenm2	G	T	11: 36,047,201	Y1548*	probably null	Het
Tenm3	T	A	8: 48,229,198	I2466F	possibly damaging	Het
Tgm2	G	A	2: 158,129,438	P294S	probably damaging	Het
Tns2	T	C	15: 102,111,453	S585P	probably damaging	Het
Ttc41	A	G	10: 86,730,942	K491E	probably benign	Het
Ttn	G	A	2: 76,791,551	T15549I	probably damaging	Het
Vmn1r157	T	C	7: 22,761,758	L21P	probably damaging	Het
Vmn2r81	A	G	10: 79,247,986	M65V	probably benign	Het
Wdr34	T	A	2: 30,032,363		probably benign	Het
Zcchc14	T	C	8: 121,618,694		probably benign	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
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
R7211:Mug1	UTSW	6	121880539	missense	possibly damaging	0.52
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'- ACATTTGGATTGGCATTCCAG -3'
(R):5'- GGCAAACACTAACTGAACATGG -3'

Sequencing Primer
(F):5'- ATTCCAGCCCCTGAGGACTC -3'
(R):5'- ACTAACTGAACATGGAGTAAATTTGG -3'

Posted On

2017-04-10