Mutagenetix > Incidental Mutation

Incidental Mutation 'R8127:Mug2'

631815

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

067556-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R8127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

121983720-122062924 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 122052567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1038 (E1038K)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081777]

AlphaFold

P28666

Predicted Effect

probably benign
Transcript: ENSMUST00000081777
AA Change: E1038K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: E1038K

Domain	Start	End	E-Value	Type
Pfam:A2M_N	128	221	3.5e-21	PFAM
A2M_N_2	449	599	1.05e-42	SMART
low complexity region	711	728	N/A	INTRINSIC
A2M	740	830	7.16e-36	SMART
Pfam:Thiol-ester_cl	963	992	1e-18	PFAM
low complexity region	994	1005	N/A	INTRINSIC
Pfam:A2M_comp	1012	1097	5.8e-34	PFAM
Pfam:A2M_comp	1093	1243	3e-47	PFAM
A2M_recep	1353	1440	1.85e-38	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.9%
20x: 97.0%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018F24Rik	T	C	5: 144,980,249 (GRCm39)	M66T	possibly damaging	Het
Acvr1	A	T	2: 58,367,638 (GRCm39)	N174K	probably benign	Het
Ago1	A	T	4: 126,348,214 (GRCm39)	C342S	possibly damaging	Het
Anapc1	A	G	2: 128,474,547 (GRCm39)	S1423P	probably damaging	Het
Antxr2	A	T	5: 98,127,876 (GRCm39)	C218*	probably null	Het
Arsa	A	G	15: 89,359,067 (GRCm39)	Y200H	probably damaging	Het
Atad3a	C	T	4: 155,838,396 (GRCm39)	R207Q	probably damaging	Het
Carmil3	A	G	14: 55,735,701 (GRCm39)	D551G	probably damaging	Het
Cdk9	A	G	2: 32,598,009 (GRCm39)	I349T	probably benign	Het
Cmya5	A	T	13: 93,231,122 (GRCm39)	V1322E	probably damaging	Het
Col4a3	T	A	1: 82,627,481 (GRCm39)	I95K	unknown	Het
Dab2ip	T	C	2: 35,534,138 (GRCm39)		probably benign	Het
Dnaaf6rt	T	C	1: 31,262,201 (GRCm39)	F61S	probably benign	Het
Dok7	A	G	5: 35,244,345 (GRCm39)	S530G	probably benign	Het
Dst	C	T	1: 34,217,310 (GRCm39)	T1250M	probably damaging	Het
Dzank1	A	C	2: 144,330,736 (GRCm39)	W439G	probably damaging	Het
Evx1	T	A	6: 52,290,902 (GRCm39)	S25T	possibly damaging	Het
Fut10	G	A	8: 31,684,999 (GRCm39)		probably benign	Het
Gatad1	T	C	5: 3,693,540 (GRCm39)	R210G	probably benign	Het
Hyal5	C	A	6: 24,891,487 (GRCm39)	R434S	probably benign	Het
Lrrc43	C	T	5: 123,630,334 (GRCm39)	P66S	probably damaging	Het
Mib1	T	A	18: 10,741,031 (GRCm39)	I93N	probably damaging	Het
Nsd2	T	A	5: 34,042,834 (GRCm39)	C1033S	probably damaging	Het
Or6k4	C	T	1: 173,965,155 (GRCm39)	P282S	probably damaging	Het
Or8d4	T	A	9: 40,038,360 (GRCm39)	H299L	probably benign	Het
Otogl	A	T	10: 107,731,613 (GRCm39)	F176Y	probably damaging	Het
Polr3b	A	G	10: 84,515,653 (GRCm39)	K609E	probably benign	Het
Prdm15	T	C	16: 97,638,910 (GRCm39)	N50S	probably benign	Het
Rlf	G	T	4: 121,005,093 (GRCm39)	Q1406K	possibly damaging	Het
Rusc2	T	C	4: 43,423,747 (GRCm39)	V1023A	possibly damaging	Het
Scn11a	C	T	9: 119,633,578 (GRCm39)	G385D	probably damaging	Het
Slc44a1	T	C	4: 53,528,714 (GRCm39)	S155P	probably benign	Het
Spam1	T	A	6: 24,796,970 (GRCm39)	V307D	possibly damaging	Het
Srgap1	A	C	10: 121,691,271 (GRCm39)	M321R	probably null	Het
Stam	A	G	2: 14,122,284 (GRCm39)	I128V	probably damaging	Het
Sytl2	A	G	7: 90,024,798 (GRCm39)	D262G	possibly damaging	Het
Taf2	G	A	15: 54,923,384 (GRCm39)	R298C	probably damaging	Het
Tcl1b5	A	T	12: 105,146,262 (GRCm39)	T112S	probably benign	Het
Trim33	T	C	3: 103,239,043 (GRCm39)	S674P	possibly damaging	Het
Trip12	T	C	1: 84,716,463 (GRCm39)	N1602S	probably damaging	Het
Vmn1r44	T	C	6: 89,870,845 (GRCm39)	I197T	probably benign	Het
Wdtc1	C	T	4: 133,029,693 (GRCm39)		probably null	Het
Zfp583	G	T	7: 6,326,821 (GRCm39)		probably null	Het
Zfyve16	T	A	13: 92,642,185 (GRCm39)	I1213F	probably damaging	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122,024,446 (GRCm39)	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122,017,613 (GRCm39)	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122,058,238 (GRCm39)	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122,026,587 (GRCm39)	splice site	probably benign
IGL01477:Mug2	APN	6	122,058,643 (GRCm39)	splice site	probably benign
IGL01926:Mug2	APN	6	122,013,063 (GRCm39)	splice site	probably benign
IGL02019:Mug2	APN	6	122,024,394 (GRCm39)	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122,013,015 (GRCm39)	missense	probably benign
IGL02310:Mug2	APN	6	122,036,082 (GRCm39)	splice site	probably benign
IGL02484:Mug2	APN	6	122,049,712 (GRCm39)	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122,047,802 (GRCm39)	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122,049,730 (GRCm39)	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122,058,285 (GRCm39)	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122,058,346 (GRCm39)	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122,017,607 (GRCm39)	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122,013,022 (GRCm39)	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122,051,673 (GRCm39)	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122,047,970 (GRCm39)	splice site	probably benign
R0225:Mug2	UTSW	6	122,051,673 (GRCm39)	missense	possibly damaging	0.89
R0514:Mug2	UTSW	6	122,058,558 (GRCm39)	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122,052,253 (GRCm39)	missense	probably benign
R0959:Mug2	UTSW	6	122,062,454 (GRCm39)	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122,036,014 (GRCm39)	missense	probably benign
R1239:Mug2	UTSW	6	122,058,637 (GRCm39)	splice site	probably benign
R1318:Mug2	UTSW	6	122,054,361 (GRCm39)	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122,017,492 (GRCm39)	splice site	probably benign
R1706:Mug2	UTSW	6	122,013,191 (GRCm39)	splice site	probably benign
R1761:Mug2	UTSW	6	122,051,664 (GRCm39)	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122,048,801 (GRCm39)	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122,047,829 (GRCm39)	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122,056,598 (GRCm39)	missense	probably benign
R2054:Mug2	UTSW	6	122,054,451 (GRCm39)	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122,056,571 (GRCm39)	missense	probably benign
R2420:Mug2	UTSW	6	122,060,419 (GRCm39)	missense	probably damaging	1.00
R2432:Mug2	UTSW	6	122,061,335 (GRCm39)	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122,051,683 (GRCm39)	splice site	probably null
R2918:Mug2	UTSW	6	122,051,683 (GRCm39)	splice site	probably null
R3423:Mug2	UTSW	6	122,024,465 (GRCm39)	splice site	probably benign
R3834:Mug2	UTSW	6	122,026,746 (GRCm39)	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122,052,526 (GRCm39)	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122,040,522 (GRCm39)	missense	probably benign
R4227:Mug2	UTSW	6	122,017,691 (GRCm39)	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122,040,632 (GRCm39)	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122,040,632 (GRCm39)	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122,047,966 (GRCm39)	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122,056,589 (GRCm39)	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122,059,711 (GRCm39)	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122,056,597 (GRCm39)	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122,013,255 (GRCm39)	missense	probably benign
R4732:Mug2	UTSW	6	122,048,831 (GRCm39)	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122,048,831 (GRCm39)	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122,056,572 (GRCm39)	missense	probably benign
R4888:Mug2	UTSW	6	122,058,154 (GRCm39)	missense	probably damaging	1.00
R5199:Mug2	UTSW	6	122,017,619 (GRCm39)	missense	probably benign
R5347:Mug2	UTSW	6	122,058,551 (GRCm39)	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122,026,688 (GRCm39)	nonsense	probably null
R5495:Mug2	UTSW	6	122,056,609 (GRCm39)	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122,061,340 (GRCm39)	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122,060,459 (GRCm39)	missense	probably null	0.98
R6180:Mug2	UTSW	6	122,056,565 (GRCm39)	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122,014,005 (GRCm39)	missense	probably benign
R6199:Mug2	UTSW	6	122,024,398 (GRCm39)	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122,052,214 (GRCm39)	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122,059,713 (GRCm39)	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122,024,401 (GRCm39)	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122,055,653 (GRCm39)	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122,059,680 (GRCm39)	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122,052,206 (GRCm39)	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122,060,425 (GRCm39)	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122,024,446 (GRCm39)	missense	possibly damaging	0.83
R7419:Mug2	UTSW	6	122,017,529 (GRCm39)	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122,056,685 (GRCm39)	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122,040,670 (GRCm39)	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122,056,603 (GRCm39)	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122,017,678 (GRCm39)	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122,055,754 (GRCm39)	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122,058,317 (GRCm39)	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122,013,241 (GRCm39)	missense	probably benign
R7850:Mug2	UTSW	6	122,052,170 (GRCm39)	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122,058,504 (GRCm39)	critical splice acceptor site	probably null
R8335:Mug2	UTSW	6	122,017,543 (GRCm39)	missense	probably benign
R8348:Mug2	UTSW	6	122,049,192 (GRCm39)	nonsense	probably null
R8557:Mug2	UTSW	6	122,040,660 (GRCm39)	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122,058,569 (GRCm39)	missense	probably damaging	1.00
R8823:Mug2	UTSW	6	122,040,648 (GRCm39)	missense	possibly damaging	0.89
R9029:Mug2	UTSW	6	122,061,328 (GRCm39)	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122,017,627 (GRCm39)	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122,054,442 (GRCm39)	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122,052,248 (GRCm39)	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122,017,700 (GRCm39)	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122,028,690 (GRCm39)	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122,028,751 (GRCm39)	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122,014,080 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGATCAGTCCTATAAGCCAGG -3'
(R):5'- GCCAGGAAAGCACATGGTAC -3'

Sequencing Primer
(F):5'- TCAGTCCTATAAGCCAGGGTATG -3'
(R):5'- AGATGAGACTCGGGGAATCTTAGTTC -3'

Posted On

2020-06-30