Mutagenetix > Incidental Mutation

Incidental Mutation 'R7904:Mug1'

610157

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

045956-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121838541-121889057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 121851465 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 279 (V279I)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably benign
Transcript: ENSMUST00000032228
AA Change: V279I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: V279I

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	A	T	2: 130,792,003		probably null	Het
Adam8	G	A	7: 139,987,678	T384I	probably benign	Het
Astn1	T	C	1: 158,597,316	F691L	probably benign	Het
Azgp1	A	G	5: 137,987,607	E164G	probably damaging	Het
Bdp1	A	G	13: 100,041,436	V1975A	probably benign	Het
Cactin	T	C	10: 81,325,865	Y744H	possibly damaging	Het
Clstn1	T	A	4: 149,614,137	I60N	probably benign	Het
Col16a1	T	A	4: 130,054,208	C240*	probably null	Het
Col6a5	T	C	9: 105,928,521	D1062G	unknown	Het
Csmd2	T	C	4: 128,419,553	L1341P		Het
Cyp51	A	T	5: 4,100,173	F183L	probably damaging	Het
Dbnl	T	A	11: 5,791,779		probably null	Het
Ddx60	G	A	8: 61,977,890	V820I	possibly damaging	Het
Dnah11	T	A	12: 117,903,268	D4046V	possibly damaging	Het
Dnah6	G	A	6: 73,135,467		probably null	Het
Dnttip1	A	G	2: 164,747,552	Y89C	probably benign	Het
Efr3a	T	A	15: 65,824,678	V144E	probably damaging	Het
Epha8	T	C	4: 136,931,739	Q868R	possibly damaging	Het
Ercc5	G	T	1: 44,175,838		probably null	Het
Fam118a	A	G	15: 85,045,633	S21G	probably damaging	Het
Fam171b	T	C	2: 83,853,505	I122T	probably damaging	Het
Fam205a1	A	G	4: 42,850,765	S464P	possibly damaging	Het
Fam212b	T	C	3: 105,716,414	C35R	probably damaging	Het
Fat4	T	A	3: 38,887,541	S194R	probably damaging	Het
Fcho2	T	A	13: 98,796,363	T44S	possibly damaging	Het
Gm21698	C	A	5: 25,984,258	L232F	probably benign	Het
Gm5767	A	G	16: 8,683,817	H61R		Het
Gpr149	T	A	3: 62,594,935	D500V	probably benign	Het
Gpx8	T	A	13: 113,045,501	T133S	probably benign	Het
Hdlbp	A	T	1: 93,423,370	I542N	probably damaging	Het
Hid1	G	A	11: 115,355,361	S361F	probably damaging	Het
Igdcc4	C	A	9: 65,134,519	A1076E	probably benign	Het
Il4ra	A	G	7: 125,565,673	K7E	probably benign	Het
Itga9	G	T	9: 118,877,226		probably null	Het
Kif5c	T	C	2: 49,701,083	S316P	probably damaging	Het
Kmt5c	A	T	7: 4,746,159	T264S	probably damaging	Het
Lrrc18	A	G	14: 33,009,095	N197S	probably benign	Het
Mcoln1	C	A	8: 3,508,356	D203E	probably benign	Het
Mitf	T	C	6: 98,013,710	V358A	probably damaging	Het
Mki67	A	T	7: 135,693,087	L3161Q	possibly damaging	Het
Mmp20	T	A	9: 7,644,075	F255I	possibly damaging	Het
Muc16	T	C	9: 18,655,650	T1858A	unknown	Het
Olfr780	T	C	10: 129,321,796	Y58H	probably damaging	Het
Otulin	G	T	15: 27,630,494	A39E	probably benign	Het
Pcdh17	A	T	14: 84,448,484	D797V	possibly damaging	Het
Pdlim5	G	A	3: 142,312,393	S147L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Ppp2r1a	T	G	17: 20,961,741		probably null	Het
Ranbp6	T	C	19: 29,812,413	I180V	probably benign	Het
Rbm27	G	T	18: 42,332,856	R869L	probably damaging	Het
Rtn4r	A	G	16: 18,151,485	D259G	probably benign	Het
Ryr3	T	C	2: 112,781,024	E2271G	probably damaging	Het
Sbk1	A	G	7: 126,292,036	Y214C	probably damaging	Het
Scg3	C	T	9: 75,643,867	E459K	probably damaging	Het
Scin	T	G	12: 40,077,000	E449D	probably damaging	Het
Sel1l3	T	C	5: 53,139,824	K760R	probably benign	Het
Sh3pxd2a	A	G	19: 47,320,314	L145S	possibly damaging	Het
Sh3yl1	A	G	12: 30,941,996	D188G	probably benign	Het
Slc38a1	A	T	15: 96,624,040	L13Q	possibly damaging	Het
Smyd4	T	C	11: 75,349,787	I36T	possibly damaging	Het
Stab2	A	T	10: 86,954,192	L570*	probably null	Het
Tg	G	T	15: 66,705,279	A1484S	probably benign	Het
Tm7sf2	A	T	19: 6,068,912	N677K	probably damaging	Het
Tmem235	T	G	11: 117,860,891	L47R	probably damaging	Het
Tmem87a	A	G	2: 120,379,717	S252P	probably damaging	Het
Unc13b	A	G	4: 43,217,075	D458G	probably benign	Het
Wfdc1	A	G	8: 119,680,031		probably null	Het
Wnt16	A	G	6: 22,297,990	Y285C	probably damaging	Het
Wwc2	A	T	8: 47,856,235	N837K	unknown	Het
Xdh	A	G	17: 73,922,472	F329L	probably benign	Het
Yaf2	G	T	15: 93,285,585	H115N	probably benign	Het
Zbtb16	G	T	9: 48,832,972	N13K	probably damaging	Het
Zfhx3	A	T	8: 108,951,063	D2915V	probably damaging	Het
Zfp236	A	T	18: 82,609,382	V1564E	possibly damaging	Het
Zfp407	G	T	18: 84,561,256	H577Q	not run	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
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
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'- TACCCTTAGAAGTTGTCAAGAGG -3'
(R):5'- GAAGGGCTTAGATGGGCTTC -3'

Sequencing Primer
(F):5'- TTGTCAAGAGGTAATAAAAATGGGAC -3'
(R):5'- CTGGGGTTTGTACACATGCC -3'

Posted On

2019-12-20