Mutagenetix > Incidental Mutation

Incidental Mutation 'R4690:Mug2'

354840

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

041941-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R4690 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

122006761-122085965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122036296 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 341 (I341L)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

probably benign
Transcript: ENSMUST00000081777
AA Change: I341L

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

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: I341L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204290

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,148,880	F436L	probably damaging	Het
Adam28	G	T	14: 68,642,048	Q184K	probably benign	Het
Adh6a	A	G	3: 138,326,171	T275A	possibly damaging	Het
Agap2	A	G	10: 127,091,375	D1082G	possibly damaging	Het
Alox5	A	T	6: 116,423,189	V263E	probably damaging	Het
Arhgef16	C	T	4: 154,287,963		probably null	Het
Bspry	G	A	4: 62,486,525	R186Q	probably damaging	Het
Ccdc188	T	A	16: 18,218,295	H111Q	probably damaging	Het
Cd40	T	C	2: 165,069,695	F209S	possibly damaging	Het
Cfap43	C	A	19: 47,747,859	V1398L	probably benign	Het
Cln3	A	T	7: 126,575,393	I286N	possibly damaging	Het
Col9a1	T	C	1: 24,224,706		probably null	Het
Cpne9	A	G	6: 113,302,055	E470G	probably damaging	Het
Cul5	A	T	9: 53,622,871	W654R	probably damaging	Het
Cyp2a22	T	A	7: 26,939,209	K51*	probably null	Het
Dcaf10	G	A	4: 45,372,769	R394Q	possibly damaging	Het
Dot1l	C	A	10: 80,786,182	S556*	probably null	Het
Eif3d	A	T	15: 77,967,316	M98K	probably benign	Het
Fam205c	T	A	4: 42,873,032		probably null	Het
Fiz1	A	G	7: 5,009,168	V117A	probably benign	Het
Fryl	A	G	5: 73,100,293	V722A	probably benign	Het
Gm3095	G	T	14: 3,964,471	R63I	probably benign	Het
Gm7133	A	T	1: 97,269,499		noncoding transcript	Het
Gm813	G	A	16: 58,613,970	T128I	probably benign	Het
Hoxb8	A	T	11: 96,284,460	D241V	probably benign	Het
Hrnr	A	G	3: 93,323,652	Q399R	unknown	Het
Itpk1	A	T	12: 102,606,175	V93D	probably damaging	Het
Kars	C	T	8: 112,002,584	A164T	probably benign	Het
Kcnq4	A	T	4: 120,717,011	I150N	probably damaging	Het
Kcnrg	A	T	14: 61,611,727	L212F	probably damaging	Het
Kif5b	A	T	18: 6,216,759	D521E	probably benign	Het
Klf11	C	T	12: 24,655,072	T158M	probably damaging	Het
Klhl6	T	C	16: 19,957,284	I175V	probably benign	Het
Lsm1	A	G	8: 25,793,680	N40S	probably damaging	Het
Map1b	T	C	13: 99,431,068	E1715G	unknown	Het
Mecom	C	A	3: 30,238,310	A4S	probably benign	Het
Muc5b	G	A	7: 141,842,294	V96M	unknown	Het
Mxra7	A	T	11: 116,816,252		probably null	Het
Myo5a	T	C	9: 75,153,823	L537P	probably damaging	Het
Myo5b	A	T	18: 74,722,462	N1241Y	probably damaging	Het
Naa16	T	C	14: 79,345,057	R531G	probably damaging	Het
Neb	T	A	2: 52,244,075	M3299L	probably benign	Het
Nlrp4b	T	A	7: 10,719,203	Y76N	probably benign	Het
Nmral1	T	C	16: 4,716,341	T79A	probably damaging	Het
Noct	C	T	3: 51,247,879	Q23*	probably null	Het
Nrxn1	A	T	17: 90,037,081	V438D	probably damaging	Het
Olfr1034	T	A	2: 86,046,898	C139S	probably damaging	Het
Olfr1463	A	C	19: 13,234,768	N173H	possibly damaging	Het
Oxct2a	T	C	4: 123,323,043	T182A	probably benign	Het
Pank2	T	C	2: 131,274,025	I121T	probably damaging	Het
Pcdh1	T	A	18: 38,203,475	T36S	probably benign	Het
Pfdn1	A	T	18: 36,451,080	M67K	possibly damaging	Het
Plec	T	C	15: 76,174,256	E3849G	probably damaging	Het
Polr3a	A	T	14: 24,464,281	S817T	possibly damaging	Het
Pomgnt1	T	A	4: 116,155,510	D401E	probably damaging	Het
Ppp1r13b	T	A	12: 111,832,558	D891V	probably damaging	Het
Prr14l	A	G	5: 32,844,156		probably benign	Het
Ptk2b	A	G	14: 66,173,300		probably null	Het
Rab13	G	C	3: 90,221,023		probably null	Het
Rexo1	C	T	10: 80,546,421	A751T	probably benign	Het
Rfx1	T	C	8: 84,082,745	V233A	possibly damaging	Het
Rnf149	C	T	1: 39,577,214		probably benign	Het
Rrm1	A	G	7: 102,447,879	D122G	probably benign	Het
Serpina1b	A	G	12: 103,732,380	F70S	probably damaging	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Sh3rf3	T	C	10: 58,813,704	S44P	possibly damaging	Het
Shroom1	A	G	11: 53,465,722	T471A	possibly damaging	Het
Slc6a1	A	G	6: 114,302,831	Y152C	probably damaging	Het
Spata6	A	T	4: 111,774,826	T145S	probably damaging	Het
Srcap	G	A	7: 127,538,014	G956D	probably damaging	Het
Ssh2	A	T	11: 77,455,205	I1339F	possibly damaging	Het
Tardbp	A	T	4: 148,612,621	*99K	probably null	Het
Tbc1d22a	A	G	15: 86,311,836	Y336C	probably damaging	Het
Tmcc3	G	A	10: 94,545,557		probably benign	Het
Tmem178b	T	G	6: 40,245,613	D87E	probably benign	Het
Tmem184a	A	C	5: 139,805,622	S380A	probably benign	Het
Tnfaip2	A	G	12: 111,445,248	K84R	possibly damaging	Het
Tpgs1	A	G	10: 79,675,401	T126A	probably benign	Het
Traf3ip1	A	G	1: 91,520,112	E437G	possibly damaging	Het
Trpc4ap	C	T	2: 155,635,133	C755Y	probably damaging	Het
Tsfm	A	G	10: 127,030,678		probably benign	Het
Tulp1	A	C	17: 28,351,837		probably benign	Het
Vmn1r23	A	T	6: 57,926,025	M256K	probably benign	Het
Zdhhc8	T	C	16: 18,226,741	D305G	probably damaging	Het
Zfp326	G	A	5: 105,907,076	R282H	probably damaging	Het

Other mutations in Mug2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00708:Mug2	APN	6	122047487	missense	possibly damaging	0.83
IGL00957:Mug2	APN	6	122040654	missense	probably damaging	0.99
IGL01314:Mug2	APN	6	122081279	missense	possibly damaging	0.62
IGL01338:Mug2	APN	6	122049628	splice site	probably benign
IGL01477:Mug2	APN	6	122081684	splice site	probably benign
IGL01926:Mug2	APN	6	122036104	splice site	probably benign
IGL02019:Mug2	APN	6	122047435	missense	probably benign	0.02
IGL02305:Mug2	APN	6	122036056	missense	probably benign
IGL02310:Mug2	APN	6	122059123	splice site	probably benign
IGL02484:Mug2	APN	6	122072753	missense	probably damaging	1.00
IGL02516:Mug2	APN	6	122070843	missense	probably damaging	1.00
IGL02531:Mug2	APN	6	122072771	missense	probably damaging	1.00
IGL02666:Mug2	APN	6	122081326	missense	probably damaging	1.00
IGL02936:Mug2	APN	6	122081387	critical splice donor site	probably null
R0114:Mug2	UTSW	6	122040648	missense	probably damaging	1.00
R0119:Mug2	UTSW	6	122036063	missense	probably benign	0.00
R0123:Mug2	UTSW	6	122074714	missense	possibly damaging	0.89
R0144:Mug2	UTSW	6	122071011	splice site	probably benign
R0225:Mug2	UTSW	6	122074714	missense	possibly damaging	0.89
R0514:Mug2	UTSW	6	122081599	missense	probably damaging	1.00
R0763:Mug2	UTSW	6	122075294	missense	probably benign
R0959:Mug2	UTSW	6	122085495	missense	probably benign	0.33
R1104:Mug2	UTSW	6	122059055	missense	probably benign
R1239:Mug2	UTSW	6	122081678	splice site	probably benign
R1318:Mug2	UTSW	6	122077402	missense	probably damaging	1.00
R1460:Mug2	UTSW	6	122040533	splice site	probably benign
R1706:Mug2	UTSW	6	122036232	splice site	probably benign
R1761:Mug2	UTSW	6	122074705	missense	probably benign	0.20
R1901:Mug2	UTSW	6	122071842	missense	probably benign	0.02
R1913:Mug2	UTSW	6	122070870	missense	probably damaging	1.00
R1943:Mug2	UTSW	6	122079639	missense	probably benign
R2054:Mug2	UTSW	6	122077492	missense	probably damaging	1.00
R2060:Mug2	UTSW	6	122079612	missense	probably benign
R2420:Mug2	UTSW	6	122083460	missense	probably damaging	1.00
R2432:Mug2	UTSW	6	122084376	missense	possibly damaging	0.93
R2916:Mug2	UTSW	6	122074724	splice site	probably null
R2918:Mug2	UTSW	6	122074724	splice site	probably null
R3423:Mug2	UTSW	6	122047506	splice site	probably benign
R3834:Mug2	UTSW	6	122049787	critical splice donor site	probably null
R3902:Mug2	UTSW	6	122075567	missense	probably damaging	1.00
R3941:Mug2	UTSW	6	122063563	missense	probably benign
R4227:Mug2	UTSW	6	122040732	missense	probably benign	0.10
R4284:Mug2	UTSW	6	122063673	missense	probably benign	0.00
R4287:Mug2	UTSW	6	122063673	missense	probably benign	0.00
R4377:Mug2	UTSW	6	122071007	critical splice donor site	probably null
R4419:Mug2	UTSW	6	122079630	missense	probably damaging	1.00
R4498:Mug2	UTSW	6	122082752	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122079638	missense	probably benign	0.00
R4732:Mug2	UTSW	6	122071872	missense	probably damaging	0.99
R4733:Mug2	UTSW	6	122071872	missense	probably damaging	0.99
R4741:Mug2	UTSW	6	122079613	missense	probably benign
R4888:Mug2	UTSW	6	122081195	missense	probably damaging	1.00
R5199:Mug2	UTSW	6	122040660	missense	probably benign
R5347:Mug2	UTSW	6	122081592	missense	probably damaging	1.00
R5457:Mug2	UTSW	6	122049729	nonsense	probably null
R5495:Mug2	UTSW	6	122079650	missense	probably damaging	0.96
R5509:Mug2	UTSW	6	122084381	missense	possibly damaging	0.84
R6006:Mug2	UTSW	6	122083500	missense	probably null	0.98
R6180:Mug2	UTSW	6	122079606	missense	probably benign	0.01
R6184:Mug2	UTSW	6	122037046	missense	probably benign
R6199:Mug2	UTSW	6	122047439	missense	probably benign	0.05
R6262:Mug2	UTSW	6	122075255	missense	probably damaging	1.00
R6416:Mug2	UTSW	6	122082754	missense	probably damaging	1.00
R6548:Mug2	UTSW	6	122047442	missense	probably damaging	1.00
R6703:Mug2	UTSW	6	122078694	missense	probably benign	0.25
R7106:Mug2	UTSW	6	122082721	missense	probably damaging	1.00
R7131:Mug2	UTSW	6	122075247	missense	probably damaging	1.00
R7372:Mug2	UTSW	6	122083466	missense	possibly damaging	0.88
R7379:Mug2	UTSW	6	122047487	missense	possibly damaging	0.83
R7419:Mug2	UTSW	6	122040570	missense	possibly damaging	0.86
R7423:Mug2	UTSW	6	122079726	missense	probably benign	0.00
R7581:Mug2	UTSW	6	122063711	missense	probably damaging	1.00
R7582:Mug2	UTSW	6	122079644	missense	probably damaging	0.99
R7672:Mug2	UTSW	6	122040719	missense	probably benign	0.37
R7713:Mug2	UTSW	6	122078795	missense	possibly damaging	0.83
R7759:Mug2	UTSW	6	122081358	missense	probably damaging	1.00
R7834:Mug2	UTSW	6	122036282	missense	probably benign
R7850:Mug2	UTSW	6	122075211	missense	probably damaging	1.00
R8029:Mug2	UTSW	6	122081545	critical splice acceptor site	probably null
R8127:Mug2	UTSW	6	122075608	missense	probably benign	0.01
R8335:Mug2	UTSW	6	122040584	missense	probably benign
R8348:Mug2	UTSW	6	122072233	nonsense	probably null
R8557:Mug2	UTSW	6	122063701	missense	probably damaging	0.99
R8798:Mug2	UTSW	6	122081610	missense	probably damaging	1.00
R8823:Mug2	UTSW	6	122063689	missense	possibly damaging	0.89
R9029:Mug2	UTSW	6	122084369	missense	probably damaging	1.00
R9153:Mug2	UTSW	6	122040668	missense	possibly damaging	0.71
R9185:Mug2	UTSW	6	122077483	missense	probably benign	0.06
R9186:Mug2	UTSW	6	122075289	missense	probably damaging	0.99
R9418:Mug2	UTSW	6	122040741	missense	probably benign	0.00
R9464:Mug2	UTSW	6	122051731	missense	probably benign	0.01
R9622:Mug2	UTSW	6	122051792	missense	probably benign	0.29
Z1177:Mug2	UTSW	6	122037121	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAGCTGTGAAAACTGACACG -3'
(R):5'- TGGAGCCTCCAGATAACCTAAG -3'

Sequencing Primer
(F):5'- GCTGTGAAAACTGACACGTTTTC -3'
(R):5'- GGAGCCTCCAGATAACCTAAGTCTTC -3'

Posted On

2015-10-21