Mutagenetix > Incidental Mutation

Incidental Mutation 'R5387:Mug1'

425330

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

042959-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5387 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

121838541-121889057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 121884394 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 1325 (Y1325H)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably damaging
Transcript: ENSMUST00000032228
AA Change: Y1325H

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: Y1325H

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: ENSMUST00000148563

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204210

Meta Mutation Damage Score

0.3029

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

99% (80/81)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,685,974	D32E	probably benign	Het
2210408I21Rik	T	A	13: 77,259,973	S140T	probably benign	Het
Ahnak	T	C	19: 9,003,691	S780P	probably damaging	Het
Ankhd1	C	A	18: 36,634,644	H1205N	probably damaging	Het
Ano1	T	C	7: 144,648,619	K139R	probably benign	Het
Anp32b	T	G	4: 46,468,573	C114W	probably damaging	Het
Ascl1	C	T	10: 87,492,689	A134T	probably damaging	Het
Atl2	C	T	17: 79,852,800	E453K	probably benign	Het
Aup1	C	T	6: 83,055,024	A84V	probably damaging	Het
Btbd7	A	T	12: 102,837,785	M332K	probably damaging	Het
Cacna1d	A	G	14: 30,100,751	V1107A	probably damaging	Het
Cd33	G	A	7: 43,532,053	Q114*	probably null	Het
Col4a4	C	T	1: 82,493,591	G681E	unknown	Het
Defb22	C	A	2: 152,485,906	A120S	unknown	Het
Dnah7b	A	G	1: 46,188,659	I1347M	probably damaging	Het
Efcab5	A	G	11: 77,134,842	I549T	possibly damaging	Het
Esp15	T	A	17: 39,644,577		probably null	Het
Fbxo7	A	G	10: 86,024,654	T42A	probably benign	Het
Filip1	A	G	9: 79,818,274	I1021T	probably benign	Het
Gad1	C	A	2: 70,563,851	S7*	probably null	Het
Gm281	C	A	14: 13,914,438	M1I	probably null	Het
H2-Q7	C	T	17: 35,439,542	T52M	probably damaging	Het
H2-T3	C	T	17: 36,186,702	G28R	probably benign	Het
Hist1h2ad	T	A	13: 23,574,667		probably null	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ift81	A	G	5: 122,555,535	Y604H	probably damaging	Het
Igsf11	A	G	16: 39,022,423	Y154C	probably damaging	Het
Kif26b	G	T	1: 178,914,876	A846S	probably benign	Het
Lnx2	G	A	5: 147,028,154	P420S	probably benign	Het
Lrit2	A	G	14: 37,072,259	T427A	probably damaging	Het
Lrrc43	G	T	5: 123,499,671		probably null	Het
Naglu	A	T	11: 101,076,724	Y500F	probably damaging	Het
Npy4r	A	G	14: 34,146,983	M116T	probably benign	Het
Nrd1	A	G	4: 109,039,762	Y526C	probably damaging	Het
Nrp2	T	C	1: 62,762,813	S472P	probably benign	Het
Olfr102	T	A	17: 37,314,292	T31S	probably benign	Het
Olfr361	T	C	2: 37,085,719	T10A	possibly damaging	Het
Otogl	T	A	10: 107,780,933	T1828S	probably benign	Het
Pank2	C	T	2: 131,274,262	T200I	probably benign	Het
Pbrm1	A	G	14: 31,082,610	Y946C	probably damaging	Het
Pde12	A	T	14: 26,666,453	S437T	probably benign	Het
Pikfyve	A	G	1: 65,265,268	K1710E	possibly damaging	Het
Plcd3	A	G	11: 103,078,455	S229P	probably damaging	Het
Polr3a	T	C	14: 24,454,941	I1084V	possibly damaging	Het
Prkaa2	C	A	4: 105,040,177	D280Y	probably damaging	Het
Ptprg	T	A	14: 12,153,873	S531R	probably damaging	Het
R3hdm2	T	C	10: 127,485,434	S620P	probably damaging	Het
Rab33b	A	G	3: 51,493,455	T117A	probably damaging	Het
Rasal2	T	C	1: 157,157,765	D804G	possibly damaging	Het
Rbp3	A	G	14: 33,956,413	T773A	possibly damaging	Het
Rrnad1	A	T	3: 87,930,011		probably benign	Het
Rspry1	A	G	8: 94,638,286	T185A	possibly damaging	Het
Sec61a2	G	T	2: 5,882,545		probably benign	Het
Setx	C	T	2: 29,147,594	R1364C	probably benign	Het
Shtn1	G	T	19: 59,038,369	L97M	probably damaging	Het
Slc35f1	T	C	10: 53,108,164	L340P	probably damaging	Het
Slc45a1	T	A	4: 150,643,909		probably benign	Het
Slmap	T	C	14: 26,459,933	E386G	probably benign	Het
Smc2	C	T	4: 52,475,096	A924V	probably benign	Het
Sp110	C	G	1: 85,589,118	E219D	probably damaging	Het
Tecta	G	A	9: 42,375,063	L766F	probably damaging	Het
Tle3	C	T	9: 61,407,489		probably null	Het
Top3a	A	G	11: 60,762,490	F53L	probably damaging	Het
Trem1	T	C	17: 48,241,513	I26T	possibly damaging	Het
Ttc7b	G	T	12: 100,446,963	Q199K	possibly damaging	Het
Ubap2l	T	C	3: 90,006,596	Y975C	probably benign	Het
Ubxn11	C	A	4: 134,123,426	D196E	probably damaging	Het
Unc80	A	G	1: 66,530,021	H945R	possibly damaging	Het
Usp15	A	G	10: 123,131,286	I405T	probably damaging	Het
Uty	C	T	Y: 1,189,339	E138K	probably damaging	Het
Wapl	A	G	14: 34,677,295	E107G	probably benign	Het
Wbp1l	T	C	19: 46,644,457		probably null	Het
Zfp184	T	G	13: 21,949,640		probably benign	Het
Zfp36	A	C	7: 28,377,868	L205R	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
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'- CCTTGATGCTCTGTCCAAATATG -3'
(R):5'- ACAGCTGCTTCTCCAAGTGC -3'

Sequencing Primer
(F):5'- AATATGGAGCAGTGACTTTTTCGAG -3'
(R):5'- CAAGTGCATGTTGTATCTCAGC -3'

Posted On

2016-08-04