Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Mug1'

546523

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121838541-121889057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121873644 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 700 (T700A)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably benign
Transcript: ENSMUST00000032228
AA Change: T700A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: T700A

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,609,256		probably null	Het
9030624J02Rik	T	C	7: 118,773,092	S290P	probably damaging	Het
9130011E15Rik	A	G	19: 45,965,249	I195T	probably damaging	Het
Adamts1	T	A	16: 85,802,746		probably benign	Het
Aff4	A	G	11: 53,408,409	K979E	probably damaging	Het
Aftph	A	T	11: 20,692,498	M845K	probably damaging	Het
Akt2	T	C	7: 27,637,012		probably null	Het
Aldh1a7	A	T	19: 20,708,178	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,999,379	T680M	probably damaging	Het
Apeh	T	C	9: 108,094,271	E59G	possibly damaging	Het
Armc8	C	T	9: 99,483,965		probably null	Het
Atp2b1	C	T	10: 98,987,310	T244I	probably damaging	Het
Btaf1	C	A	19: 37,004,469	T1633K	probably benign	Het
Cacng8	A	G	7: 3,415,303	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,848,205	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,590,588	M105K	probably benign	Het
Ccna1	T	C	3: 55,046,039	E381G	possibly damaging	Het
Cd2ap	A	T	17: 42,798,599	L623Q	probably damaging	Het
Cdkl3	A	G	11: 52,027,215	E415G	probably benign	Het
Chd5	C	A	4: 152,360,941	L430I	possibly damaging	Het
Clspn	G	A	4: 126,580,982	E975K	possibly damaging	Het
Cobl	C	A	11: 12,254,177	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,192,538	R1037L	probably damaging	Het
Derl1	A	G	15: 57,879,047		probably null	Het
Dhrs9	T	G	2: 69,393,176	N89K	probably benign	Het
Erich1	A	G	8: 14,064,330	I60T	probably benign	Het
Fam126b	T	A	1: 58,535,537	M282L	probably benign	Het
Fam155a	G	A	8: 9,770,589	P144S	possibly damaging	Het
Fam184a	A	T	10: 53,694,814	S408T	possibly damaging	Het
Fcgr4	T	A	1: 171,020,088	M85K	probably benign	Het
Foxj3	A	G	4: 119,619,300	E259G	probably damaging	Het
Galnt11	T	C	5: 25,258,813	I361T	probably damaging	Het
Gck	A	G	11: 5,901,747	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,446,145	V98F	probably damaging	Het
Gm13089	A	T	4: 143,697,328	I297N	probably damaging	Het
Gm884	T	A	11: 103,615,812		probably benign	Het
Gramd1a	A	G	7: 31,132,756		probably null	Het
Herc3	A	T	6: 58,876,855	M629L	probably benign	Het
Hist2h2ab	C	T	3: 96,219,988	Q25*	probably null	Het
Hoxc12	G	A	15: 102,938,360	G229D	probably damaging	Het
Itga9	T	C	9: 118,698,365	L528P	probably benign	Het
Krt39	A	C	11: 99,521,236	V8G	probably benign	Het
Krt71	A	G	15: 101,738,337	I312T	probably benign	Het
Mllt11	A	G	3: 95,220,433	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,590,090	N29K	possibly damaging	Het
Myl1	T	C	1: 66,930,236	N79S	probably damaging	Het
Myo18b	G	A	5: 112,723,904	Q2104*	probably null	Het
Ndufs2	T	C	1: 171,238,308	D256G	probably benign	Het
Nek5	T	C	8: 22,107,723	N280S	probably benign	Het
Nwd2	A	T	5: 63,804,915	N614I	probably damaging	Het
Olfr794	G	A	10: 129,571,072	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,598,252	K849N	possibly damaging	Het
Pcnx2	T	C	8: 125,785,302	T1422A	probably damaging	Het
Plce1	A	G	19: 38,739,357	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,415,170	T149A	probably damaging	Het
Ppl	A	G	16: 5,087,502	V1643A	probably benign	Het
Prrx1	T	A	1: 163,248,338	M220L	probably benign	Het
Pspc1	A	C	14: 56,758,628		probably null	Het
Ptpn20	A	G	14: 33,614,435	*44W	probably null	Het
Qars	T	A	9: 108,514,777	V83E	probably damaging	Het
Rbm33	T	C	5: 28,394,498	M956T	unknown	Het
Sash1	C	A	10: 8,730,083	E848*	probably null	Het
Scai	T	A	2: 39,121,135	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,438,418		probably benign	Het
Sgo2b	T	A	8: 63,926,834	H988L	probably benign	Het
Sh2b2	G	A	5: 136,218,885	T604I	probably benign	Het
Skint4	A	T	4: 112,158,084	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,347,342	I88V	possibly damaging	Het
Smug1	A	G	15: 103,155,942	L184P	probably damaging	Het
Spatc1	A	G	15: 76,283,880	T180A	probably benign	Het
Ssr1	A	T	13: 37,994,025	L20Q	probably null	Het
Supt4a	A	G	11: 87,743,258	E100G	probably damaging	Het
Teddm2	T	C	1: 153,850,574	I132V	probably benign	Het
Tmem131	C	T	1: 36,792,973	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,423,607	H1186L	probably benign	Het
Trim34b	A	T	7: 104,329,536		probably benign	Het
Trpm2	T	C	10: 77,912,592	M1415V	probably benign	Het
Ttll12	A	G	15: 83,586,885	F264S	probably benign	Het
Vmn2r59	T	C	7: 42,046,220	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,326,410	H848L	probably benign	Het
Wdfy3	G	A	5: 101,907,518	T1562I	probably damaging	Het
Ybey	T	C	10: 76,468,363	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,132,387	Q308L	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
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
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'- CACAGTCTCCTCCAAAATGAGTG -3'
(R):5'- TCCATGTAAGACTGCTTCACC -3'

Sequencing Primer
(F):5'- CTCCTCCAAAATGAGTGATTCAATGC -3'
(R):5'- ACCTACTACTCAATATGGTGATCCTG -3'

Posted On

2019-05-13