Mutagenetix > Incidental Mutation

Incidental Mutation 'R6053:Mug1'

484232

Institutional Source

Beutler Lab

Gene Symbol

Mug1

Ensembl Gene

ENSMUSG00000059908

Gene Name

murinoglobulin 1

Synonyms

MMRRC Submission

044221-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6053 (G1)

Quality Score

220.009

Status

Not validated

Chromosome

Chromosomal Location

121815500-121866016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 121842697 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 561 (D561G)

Ref Sequence

ENSEMBL: ENSMUSP00000032228 (fasta)

Gene Model

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

AlphaFold

P28665

Predicted Effect

probably benign
Transcript: ENSMUST00000032228
AA Change: D561G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000032228
Gene: ENSMUSG00000059908
AA Change: D561G

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 94.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 121,964,666 (GRCm39)	Y2158H	probably damaging	Het
Acap1	T	G	11: 69,777,896 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,080,284 (GRCm39)	I279N	possibly damaging	Het
Akap3	A	G	6: 126,843,496 (GRCm39)	E705G	probably damaging	Het
Aoc1l3	A	G	6: 48,965,422 (GRCm39)	T477A	probably benign	Het
Arap3	C	A	18: 38,123,824 (GRCm39)	L398F	probably damaging	Het
Catsperg1	A	T	7: 28,910,239 (GRCm39)	L34*	probably null	Het
Ccdc171	T	G	4: 83,713,456 (GRCm39)	L1165R	probably damaging	Het
Ccdc3	G	A	2: 5,233,838 (GRCm39)	V221I	probably benign	Het
Cdc42ep4	T	A	11: 113,619,812 (GRCm39)	H193L	probably damaging	Het
Clcn1	G	A	6: 42,277,208 (GRCm39)	W361*	probably null	Het
Cntn2	T	C	1: 132,446,090 (GRCm39)	N832S	probably benign	Het
Col5a1	A	T	2: 27,904,389 (GRCm39)		probably benign	Het
Cplane1	A	G	15: 8,217,945 (GRCm39)	D785G	probably benign	Het
Cspg4b	C	A	13: 113,457,260 (GRCm39)	P1102Q	possibly damaging	Het
Ctc1	T	A	11: 68,918,727 (GRCm39)	M550K	probably benign	Het
Dennd5a	T	C	7: 109,532,952 (GRCm39)	R273G	probably damaging	Het
Dnajb7	T	C	15: 81,291,500 (GRCm39)	E279G	probably benign	Het
Dop1a	G	T	9: 86,397,347 (GRCm39)	G882W	possibly damaging	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Ect2l	A	T	10: 18,017,592 (GRCm39)	L629Q	probably damaging	Het
Enpp1	T	C	10: 24,533,024 (GRCm39)	D497G	possibly damaging	Het
Ep400	T	C	5: 110,903,661 (GRCm39)	M313V	probably benign	Het
Epn2	T	C	11: 61,437,323 (GRCm39)	Y83C	probably damaging	Het
Ercc3	T	G	18: 32,379,807 (GRCm39)	V338G	probably damaging	Het
Fkbp5	T	C	17: 28,647,440 (GRCm39)	I132V	probably benign	Het
Fn1	A	T	1: 71,638,449 (GRCm39)	Y1846N	probably damaging	Het
Foxg1	T	C	12: 49,432,161 (GRCm39)	L298P	possibly damaging	Het
Foxo3	G	A	10: 42,073,210 (GRCm39)	P436S	probably benign	Het
Gbx2	T	C	1: 89,858,159 (GRCm39)	T107A	probably benign	Het
Gli1	G	T	10: 127,170,184 (GRCm39)	H324N	probably damaging	Het
Gnas	T	A	2: 174,141,645 (GRCm39)	S605T	possibly damaging	Het
Ica1	C	T	6: 8,630,783 (GRCm39)	A431T	probably benign	Het
Il10ra	C	T	9: 45,167,601 (GRCm39)	D319N	probably damaging	Het
Jmjd4	T	A	11: 59,344,870 (GRCm39)	H274Q	probably damaging	Het
Krt28	C	A	11: 99,262,027 (GRCm39)	L294F	probably benign	Het
Ltbp3	C	A	19: 5,802,122 (GRCm39)	T766K	probably damaging	Het
Man2b2	C	A	5: 36,970,382 (GRCm39)	M841I	probably benign	Het
Mmp14	T	A	14: 54,673,347 (GRCm39)	M85K	probably benign	Het
Mmp1b	T	A	9: 7,385,031 (GRCm39)	D206V	probably benign	Het
Muc5b	T	C	7: 141,418,445 (GRCm39)	F3797S	probably benign	Het
Myo18a	T	A	11: 77,709,002 (GRCm39)	H471Q	probably damaging	Het
Nfkb2	A	G	19: 46,300,251 (GRCm39)	E873G	probably damaging	Het
Ngfr	G	A	11: 95,461,832 (GRCm39)	H361Y	possibly damaging	Het
Nnt	T	C	13: 119,494,045 (GRCm39)	T679A	possibly damaging	Het
Notch1	A	T	2: 26,362,924 (GRCm39)	N947K	probably benign	Het
Nrg4	A	T	9: 55,143,774 (GRCm39)	V94D	probably benign	Het
Nsd1	G	T	13: 55,441,422 (GRCm39)	C1631F	probably damaging	Het
Nutm1	T	C	2: 112,079,435 (GRCm39)	T827A	probably benign	Het
Or2t47	T	A	11: 58,442,892 (GRCm39)	M58L	possibly damaging	Het
Or4c114	T	C	2: 88,904,898 (GRCm39)	D179G	probably damaging	Het
Or5h19	A	T	16: 58,856,351 (GRCm39)	Y250N	probably damaging	Het
Or6p1	C	A	1: 174,258,135 (GRCm39)	S47*	probably null	Het
Or8b36	TTGCTGT	TTGCTGTCTGCTGT	9: 37,937,837 (GRCm39)		probably null	Het
Orai3	C	T	7: 127,373,050 (GRCm39)	P184S	probably benign	Het
Paqr3	A	T	5: 97,259,137 (GRCm39)	S56T	probably benign	Het
Pard6b	C	T	2: 167,940,973 (GRCm39)	T320M	possibly damaging	Het
Pgs1	T	C	11: 117,892,535 (GRCm39)	S166P	probably damaging	Het
Plaa	T	C	4: 94,478,121 (GRCm39)	T114A	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plin4	A	T	17: 56,415,618 (GRCm39)	D73E	probably benign	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Rbak	A	C	5: 143,160,437 (GRCm39)	Y205*	probably null	Het
Rgs12	T	C	5: 35,123,296 (GRCm39)	F360L	probably benign	Het
Rgs22	A	T	15: 36,100,153 (GRCm39)	D187E	probably benign	Het
Sec24d	C	T	3: 123,072,871 (GRCm39)	Q66*	probably null	Het
Sh2d5	T	A	4: 137,982,873 (GRCm39)	M85K	probably damaging	Het
Sos1	A	G	17: 80,722,463 (GRCm39)	V861A	possibly damaging	Het
Stk11ip	T	A	1: 75,510,899 (GRCm39)		probably null	Het
Tmem26	G	A	10: 68,584,314 (GRCm39)	E127K	probably benign	Het
Tmem41a	T	G	16: 21,753,739 (GRCm39)	T211P	possibly damaging	Het
Tmem69	T	A	4: 116,410,581 (GRCm39)	M130L	possibly damaging	Het
Trak2	C	A	1: 58,943,228 (GRCm39)	R726L	possibly damaging	Het
Vmn1r231	A	G	17: 21,110,081 (GRCm39)	I278T	probably damaging	Het
Vwf	G	A	6: 125,577,628 (GRCm39)	V490I	probably benign	Het
Wdr33	C	T	18: 32,011,116 (GRCm39)	T255I	possibly damaging	Het
Ylpm1	G	T	12: 85,043,277 (GRCm39)	W5L	possibly damaging	Het
Zfp169	A	T	13: 48,652,334 (GRCm39)	W28R	probably damaging	Het

Other mutations in Mug1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Mug1	APN	6	121,842,768 (GRCm39)	missense	probably damaging	1.00
IGL00485:Mug1	APN	6	121,864,375 (GRCm39)	missense	probably benign	0.17
IGL00816:Mug1	APN	6	121,859,597 (GRCm39)	missense	probably damaging	0.99
IGL01140:Mug1	APN	6	121,859,693 (GRCm39)	missense	probably benign	0.01
IGL01141:Mug1	APN	6	121,847,458 (GRCm39)	missense	probably benign	0.08
IGL01384:Mug1	APN	6	121,826,433 (GRCm39)	splice site	probably benign
IGL01659:Mug1	APN	6	121,847,619 (GRCm39)	splice site	probably benign
IGL02049:Mug1	APN	6	121,848,295 (GRCm39)	missense	probably benign
IGL02151:Mug1	APN	6	121,861,649 (GRCm39)	critical splice donor site	probably null
IGL02315:Mug1	APN	6	121,817,126 (GRCm39)	missense	probably benign
IGL02629:Mug1	APN	6	121,817,024 (GRCm39)	missense	possibly damaging	0.62
IGL02642:Mug1	APN	6	121,859,544 (GRCm39)	missense	probably benign	0.14
IGL02807:Mug1	APN	6	121,863,531 (GRCm39)	missense	probably damaging	0.96
IGL02932:Mug1	APN	6	121,864,386 (GRCm39)	missense	probably benign	0.35
IGL03232:Mug1	APN	6	121,855,494 (GRCm39)	missense	probably benign	0.00
R1462_Mug1_304	UTSW	6	121,859,588 (GRCm39)	missense	probably benign	0.41
R2341_Mug1_749	UTSW	6	121,861,588 (GRCm39)	missense	probably benign	0.06
R4261_Mug1_652	UTSW	6	121,850,693 (GRCm39)	missense	probably benign
R6173_mug1_139	UTSW	6	121,840,752 (GRCm39)	missense	probably damaging	0.99
IGL03050:Mug1	UTSW	6	121,857,530 (GRCm39)	missense	possibly damaging	0.90
R0101:Mug1	UTSW	6	121,861,206 (GRCm39)	missense	possibly damaging	0.59
R0194:Mug1	UTSW	6	121,817,066 (GRCm39)	missense	probably damaging	0.98
R0196:Mug1	UTSW	6	121,815,684 (GRCm39)	critical splice donor site	probably null
R0325:Mug1	UTSW	6	121,826,801 (GRCm39)	missense	probably benign
R0332:Mug1	UTSW	6	121,826,856 (GRCm39)	splice site	probably null
R0377:Mug1	UTSW	6	121,834,320 (GRCm39)	missense	probably benign	0.02
R0393:Mug1	UTSW	6	121,826,809 (GRCm39)	missense	possibly damaging	0.64
R0414:Mug1	UTSW	6	121,833,513 (GRCm39)	missense	probably benign	0.00
R0457:Mug1	UTSW	6	121,838,514 (GRCm39)	missense	probably benign	0.06
R0479:Mug1	UTSW	6	121,817,186 (GRCm39)	missense	probably benign
R0519:Mug1	UTSW	6	121,828,383 (GRCm39)	missense	possibly damaging	0.83
R0535:Mug1	UTSW	6	121,828,413 (GRCm39)	missense	probably benign
R0745:Mug1	UTSW	6	121,864,386 (GRCm39)	missense	probably benign	0.35
R0939:Mug1	UTSW	6	121,861,308 (GRCm39)	missense	possibly damaging	0.95
R0975:Mug1	UTSW	6	121,855,498 (GRCm39)	missense	probably damaging	0.99
R1033:Mug1	UTSW	6	121,857,510 (GRCm39)	missense	probably damaging	0.99
R1086:Mug1	UTSW	6	121,862,813 (GRCm39)	missense	probably damaging	1.00
R1116:Mug1	UTSW	6	121,847,604 (GRCm39)	missense	probably benign
R1131:Mug1	UTSW	6	121,838,144 (GRCm39)	missense	probably benign	0.18
R1249:Mug1	UTSW	6	121,826,420 (GRCm39)	missense	probably benign	0.07
R1364:Mug1	UTSW	6	121,858,672 (GRCm39)	missense	probably damaging	1.00
R1418:Mug1	UTSW	6	121,815,635 (GRCm39)	missense	probably benign	0.00
R1462:Mug1	UTSW	6	121,859,588 (GRCm39)	missense	probably benign	0.41
R1462:Mug1	UTSW	6	121,859,588 (GRCm39)	missense	probably benign	0.41
R1494:Mug1	UTSW	6	121,856,259 (GRCm39)	missense	probably damaging	1.00
R1639:Mug1	UTSW	6	121,857,530 (GRCm39)	missense	probably damaging	1.00
R1901:Mug1	UTSW	6	121,858,780 (GRCm39)	missense	probably benign
R1902:Mug1	UTSW	6	121,858,780 (GRCm39)	missense	probably benign
R2087:Mug1	UTSW	6	121,833,250 (GRCm39)	missense	probably benign	0.00
R2168:Mug1	UTSW	6	121,847,458 (GRCm39)	missense	probably benign	0.08
R2249:Mug1	UTSW	6	121,847,469 (GRCm39)	missense	probably benign
R2341:Mug1	UTSW	6	121,861,588 (GRCm39)	missense	probably benign	0.06
R2888:Mug1	UTSW	6	121,858,802 (GRCm39)	missense	probably benign	0.44
R2892:Mug1	UTSW	6	121,817,029 (GRCm39)	missense	possibly damaging	0.91
R3703:Mug1	UTSW	6	121,865,515 (GRCm39)	splice site	probably benign
R3789:Mug1	UTSW	6	121,861,587 (GRCm39)	missense	probably benign	0.03
R3790:Mug1	UTSW	6	121,861,587 (GRCm39)	missense	probably benign	0.03
R3950:Mug1	UTSW	6	121,855,489 (GRCm39)	missense	probably damaging	1.00
R4261:Mug1	UTSW	6	121,850,693 (GRCm39)	missense	probably benign
R4402:Mug1	UTSW	6	121,856,311 (GRCm39)	missense	probably damaging	1.00
R4589:Mug1	UTSW	6	121,834,310 (GRCm39)	missense	probably benign	0.19
R4707:Mug1	UTSW	6	121,861,600 (GRCm39)	missense	probably damaging	1.00
R4766:Mug1	UTSW	6	121,861,213 (GRCm39)	missense	probably benign	0.01
R4840:Mug1	UTSW	6	121,862,813 (GRCm39)	missense	probably damaging	1.00
R4984:Mug1	UTSW	6	121,815,576 (GRCm39)	utr 5 prime	probably benign
R4999:Mug1	UTSW	6	121,855,902 (GRCm39)	nonsense	probably null
R5198:Mug1	UTSW	6	121,851,521 (GRCm39)	missense	probably damaging	1.00
R5220:Mug1	UTSW	6	121,838,092 (GRCm39)	missense	probably benign	0.03
R5253:Mug1	UTSW	6	121,865,872 (GRCm39)	missense	probably benign	0.03
R5273:Mug1	UTSW	6	121,850,748 (GRCm39)	missense	probably damaging	0.99
R5285:Mug1	UTSW	6	121,818,066 (GRCm39)	missense	probably benign	0.45
R5387:Mug1	UTSW	6	121,861,353 (GRCm39)	missense	probably damaging	0.99
R5560:Mug1	UTSW	6	121,838,032 (GRCm39)	missense	probably damaging	0.96
R5652:Mug1	UTSW	6	121,817,140 (GRCm39)	missense	probably benign
R5704:Mug1	UTSW	6	121,828,392 (GRCm39)	missense	possibly damaging	0.63
R5732:Mug1	UTSW	6	121,855,452 (GRCm39)	missense	probably benign	0.00
R6173:Mug1	UTSW	6	121,840,752 (GRCm39)	missense	probably damaging	0.99
R6578:Mug1	UTSW	6	121,864,411 (GRCm39)	missense	probably benign	0.00
R6647:Mug1	UTSW	6	121,817,200 (GRCm39)	missense	probably benign	0.02
R6681:Mug1	UTSW	6	121,815,683 (GRCm39)	missense	possibly damaging	0.75
R6925:Mug1	UTSW	6	121,858,746 (GRCm39)	missense	probably damaging	1.00
R7014:Mug1	UTSW	6	121,838,084 (GRCm39)	missense	probably benign	0.22
R7031:Mug1	UTSW	6	121,815,673 (GRCm39)	missense	probably benign	0.00
R7034:Mug1	UTSW	6	121,850,603 (GRCm39)	missense	probably benign	0.00
R7156:Mug1	UTSW	6	121,861,302 (GRCm39)	missense	probably damaging	1.00
R7156:Mug1	UTSW	6	121,857,864 (GRCm39)	missense	probably damaging	1.00
R7179:Mug1	UTSW	6	121,834,379 (GRCm39)	missense	probably benign	0.00
R7211:Mug1	UTSW	6	121,857,498 (GRCm39)	missense	possibly damaging	0.52
R7318:Mug1	UTSW	6	121,847,611 (GRCm39)	critical splice donor site	probably null
R7462:Mug1	UTSW	6	121,852,399 (GRCm39)	missense	probably benign	0.00
R7479:Mug1	UTSW	6	121,855,467 (GRCm39)	missense	possibly damaging	0.83
R7588:Mug1	UTSW	6	121,852,476 (GRCm39)	missense	probably damaging	1.00
R7611:Mug1	UTSW	6	121,852,387 (GRCm39)	critical splice acceptor site	probably null
R7659:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7660:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7661:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7663:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7664:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7666:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7788:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7789:Mug1	UTSW	6	121,838,179 (GRCm39)	missense	possibly damaging	0.95
R7794:Mug1	UTSW	6	121,833,247 (GRCm39)	missense	possibly damaging	0.93
R7809:Mug1	UTSW	6	121,855,944 (GRCm39)	missense	possibly damaging	0.79
R7836:Mug1	UTSW	6	121,847,611 (GRCm39)	critical splice donor site	probably null
R7867:Mug1	UTSW	6	121,850,593 (GRCm39)	missense	probably benign
R7904:Mug1	UTSW	6	121,828,424 (GRCm39)	missense	probably benign
R7937:Mug1	UTSW	6	121,838,128 (GRCm39)	missense	probably benign	0.00
R7981:Mug1	UTSW	6	121,858,723 (GRCm39)	missense	probably damaging	1.00
R7999:Mug1	UTSW	6	121,857,855 (GRCm39)	missense	possibly damaging	0.90
R8070:Mug1	UTSW	6	121,852,838 (GRCm39)	missense	probably benign	0.26
R8071:Mug1	UTSW	6	121,850,631 (GRCm39)	missense	probably benign
R8151:Mug1	UTSW	6	121,818,117 (GRCm39)	missense	probably benign	0.01
R8491:Mug1	UTSW	6	121,859,688 (GRCm39)	missense	probably damaging	1.00
R8714:Mug1	UTSW	6	121,859,681 (GRCm39)	missense	probably benign	0.01
R8734:Mug1	UTSW	6	121,848,340 (GRCm39)	missense	probably benign	0.00
R8738:Mug1	UTSW	6	121,817,208 (GRCm39)	splice site	probably benign
R8807:Mug1	UTSW	6	121,851,434 (GRCm39)	missense	probably benign	0.27
R8931:Mug1	UTSW	6	121,861,296 (GRCm39)	missense	probably benign
R8940:Mug1	UTSW	6	121,858,642 (GRCm39)	missense
R9156:Mug1	UTSW	6	121,851,390 (GRCm39)	missense	probably damaging	0.99
R9314:Mug1	UTSW	6	121,834,296 (GRCm39)	missense	probably damaging	0.97
R9315:Mug1	UTSW	6	121,850,730 (GRCm39)	missense	possibly damaging	0.95
R9330:Mug1	UTSW	6	121,859,723 (GRCm39)	missense	probably benign	0.14
R9334:Mug1	UTSW	6	121,838,490 (GRCm39)	missense	probably benign	0.01
R9357:Mug1	UTSW	6	121,852,450 (GRCm39)	missense	probably benign	0.02
R9515:Mug1	UTSW	6	121,861,635 (GRCm39)	missense	probably damaging	1.00
R9549:Mug1	UTSW	6	121,858,762 (GRCm39)	missense	probably damaging	1.00
R9564:Mug1	UTSW	6	121,861,587 (GRCm39)	missense	probably benign	0.03
R9663:Mug1	UTSW	6	121,859,699 (GRCm39)	missense	probably benign	0.03
R9663:Mug1	UTSW	6	121,857,463 (GRCm39)	missense	probably benign	0.08
R9681:Mug1	UTSW	6	121,833,254 (GRCm39)	missense	probably benign	0.01
R9777:Mug1	UTSW	6	121,857,864 (GRCm39)	missense	probably damaging	1.00
RF017:Mug1	UTSW	6	121,861,533 (GRCm39)	missense	probably damaging	1.00
X0064:Mug1	UTSW	6	121,838,174 (GRCm39)	missense	possibly damaging	0.48
Z1176:Mug1	UTSW	6	121,857,452 (GRCm39)	missense	probably damaging	1.00
Z1176:Mug1	UTSW	6	121,818,253 (GRCm39)	missense	probably benign	0.32
Z1177:Mug1	UTSW	6	121,856,258 (GRCm39)	critical splice acceptor site	probably null
Z1177:Mug1	UTSW	6	121,840,767 (GRCm39)	missense	probably damaging	0.99
Z1177:Mug1	UTSW	6	121,863,527 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCCTAAATCAGTTCCTGGGGAG -3'
(R):5'- ACTGTTTCATCAGAGCCAGG -3'

Sequencing Primer
(F):5'- CCTAAATCAGTTCCTGGGGAGAAAGG -3'
(R):5'- CTGTTTCATCAGAGCCAGGGTAAC -3'

Posted On

2017-07-14