Mutagenetix > Incidental Mutation

Incidental Mutation 'R4419:Mug2'

326996

Institutional Source

Beutler Lab

Gene Symbol

Mug2

Ensembl Gene

ENSMUSG00000030131

Gene Name

murinoglobulin 2

Synonyms

MMRRC Submission

041140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4419 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

122006761-122085965 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122079630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 1178 (A1178D)

Ref Sequence

ENSEMBL: ENSMUSP00000080469 (fasta)

Gene Model

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

AlphaFold

P28666

Predicted Effect

probably damaging
Transcript: ENSMUST00000081777
AA Change: A1178D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080469
Gene: ENSMUSG00000030131
AA Change: A1178D

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amdhd2	G	A	17: 24,158,678	P126L	probably benign	Het
Arfip2	T	C	7: 105,639,063	T44A	probably damaging	Het
B4galt1	A	G	4: 40,853,537	V90A	probably benign	Het
Bad	C	A	19: 6,950,685	A115E	probably benign	Het
Bicc1	A	G	10: 70,946,974	L521P	possibly damaging	Het
Caskin1	T	C	17: 24,504,709	S824P	probably damaging	Het
Cblb	T	A	16: 52,047,258	D76E	possibly damaging	Het
Celsr3	G	T	9: 108,843,244	A2572S	possibly damaging	Het
Csmd3	T	C	15: 47,704,311	Q2152R	probably damaging	Het
D2hgdh	T	A	1: 93,829,813	V150E	probably damaging	Het
Ddn	C	A	15: 98,805,611	W600L	probably benign	Het
Dicer1	A	T	12: 104,705,114	Y966N	probably damaging	Het
Dsp	T	A	13: 38,195,132	I1352N	probably damaging	Het
Duox1	G	A	2: 122,327,126	A578T	probably benign	Het
Dysf	T	C	6: 84,207,242		probably null	Het
Elmo2	T	C	2: 165,311,755		probably null	Het
Heg1	A	T	16: 33,727,435	E864V	probably benign	Het
Hoxb9	T	C	11: 96,271,981	V147A	probably benign	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Ky	G	A	9: 102,542,710	V639I	probably damaging	Het
Med16	G	A	10: 79,898,382	A566V	probably benign	Het
Mettl17	G	T	14: 51,887,272	G167C	possibly damaging	Het
Mgat4b	T	C	11: 50,232,986	F318L	probably damaging	Het
Myo3b	A	G	2: 70,096,362	D51G	probably damaging	Het
Naip2	T	C	13: 100,160,625	N968D	probably benign	Het
Nbea	T	C	3: 56,009,600	H820R	probably damaging	Het
Nqo1	C	T	8: 107,392,117		probably null	Het
Olfr1328	A	T	4: 118,934,389	I153N	possibly damaging	Het
Olfr780	T	C	10: 129,321,815	F64S	possibly damaging	Het
Olfr916	C	T	9: 38,658,069	V108I	probably benign	Het
Ppargc1a	T	C	5: 51,494,702	D218G	probably damaging	Het
Rras	A	G	7: 45,020,579	D145G	probably damaging	Het
Scn3a	C	A	2: 65,466,960	G1452C	probably damaging	Het
Slc22a2	C	A	17: 12,612,586	S421*	probably null	Het
Slc39a10	A	G	1: 46,810,066	F797L	probably benign	Het
Spta1	T	A	1: 174,247,424	Y2405*	probably null	Het
Ss18	A	G	18: 14,633,605	Y359H	unknown	Het
St14	C	T	9: 31,096,928	C537Y	probably damaging	Het
Tmem252	T	A	19: 24,677,546	Y96N	probably damaging	Het
Trafd1	T	C	5: 121,373,333	D474G	probably benign	Het
Trmt1l	A	G	1: 151,440,808	I20M	probably damaging	Het
Ulk1	C	T	5: 110,789,357	R691Q	probably benign	Het
Vmn1r43	A	G	6: 89,869,647	S286P	probably benign	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
R4498:Mug2	UTSW	6	122082752	missense	probably damaging	0.99
R4566:Mug2	UTSW	6	122079638	missense	probably benign	0.00
R4690:Mug2	UTSW	6	122036296	missense	probably benign
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'- ACAATCGATTGCACTCACTGG -3'
(R):5'- AAAACCACCAACCTGTGTGG -3'

Sequencing Primer
(F):5'- GCACTCACTGGAAATTTTTACTGAG -3'
(R):5'- CACCAACCTGTGTGGAGGAG -3'

Posted On

2015-07-07