Mutagenetix > Incidental Mutation

Incidental Mutation 'R0646:Gm884'

57184

Institutional Source

Beutler Lab

Gene Symbol

Gm884

Ensembl Gene

ENSMUSG00000034239

Gene Name

predicted gene 884

Synonyms

LOC380730

MMRRC Submission

038831-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.154) question?

Stock #

R0646 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103534577-103621140 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 103613160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 485 (K485*)

Ref Sequence

ENSEMBL: ENSMUSP00000129662 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059279] [ENSMUST00000167262]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000059279
AA Change: K2661*

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: K2661*

Domain	Start	End	E-Value	Type
Pfam:LRRC37	149	223	5.4e-10	PFAM
low complexity region	244	264	N/A	INTRINSIC
low complexity region	298	308	N/A	INTRINSIC
Pfam:LRRC37	335	403	1.9e-14	PFAM
Pfam:LRRC37	419	514	1.2e-8	PFAM
Pfam:LRRC37	565	620	2e-10	PFAM
Pfam:LRRC37	669	739	7.6e-18	PFAM
Pfam:LRRC37	741	792	1.6e-9	PFAM
Pfam:LRRC37	789	860	1.4e-23	PFAM
Pfam:LRRC37	861	914	2.8e-9	PFAM
Pfam:LRRC37	911	983	1.9e-23	PFAM
Pfam:LRRC37	979	1038	1e-8	PFAM
Pfam:LRRC37	1034	1105	2.7e-24	PFAM
Pfam:LRRC37	1105	1158	2.3e-9	PFAM
Pfam:LRRC37	1155	1219	2.4e-17	PFAM
Pfam:LRRC37	1222	1265	9.2e-7	PFAM
Pfam:LRRC37	1263	1330	4.9e-24	PFAM
Pfam:LRRC37	1331	1384	1.4e-10	PFAM
Pfam:LRRC37	1380	1451	4.3e-15	PFAM
Pfam:LRRC37	1487	1558	1.9e-15	PFAM
Pfam:LRRC37	1594	1665	2.9e-18	PFAM
Pfam:LRRC37	1701	1772	5.6e-23	PFAM
Pfam:LRRC37	1808	1910	2.8e-18	PFAM
Pfam:LRRC37	1915	1986	7.2e-17	PFAM
Pfam:LRRC37	2022	2093	4.9e-22	PFAM
Pfam:LRRC37	2129	2200	4.4e-22	PFAM
Pfam:LRRC37	2236	2307	2.1e-21	PFAM
Pfam:LRRC37	2343	2414	3.8e-17	PFAM
Pfam:LRRC37	2449	2519	1.6e-19	PFAM
LRR	2777	2796	3.09e1	SMART
LRR_TYP	2797	2820	2.09e-3	SMART
LRR	2821	2844	4.44e0	SMART
LRR	2848	2872	8.26e1	SMART
low complexity region	2991	3002	N/A	INTRINSIC
low complexity region	3220	3230	N/A	INTRINSIC
low complexity region	3382	3393	N/A	INTRINSIC
Pfam:LRRC37AB_C	3424	3570	7.7e-76	PFAM
low complexity region	3571	3589	N/A	INTRINSIC
low complexity region	3622	3640	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000167262
AA Change: K485*

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239
AA Change: K485*

Domain	Start	End	E-Value	Type
internal_repeat_1	1	70	1.46e-11	PROSPERO
internal_repeat_1	108	290	1.46e-11	PROSPERO
LRR	601	620	3.09e1	SMART
LRR_TYP	621	644	2.09e-3	SMART
LRR	645	668	4.44e0	SMART
LRR	672	696	8.26e1	SMART
low complexity region	815	826	N/A	INTRINSIC
low complexity region	1044	1054	N/A	INTRINSIC
low complexity region	1206	1217	N/A	INTRINSIC
Pfam:LRRC37AB_C	1243	1396	1.2e-92	PFAM
low complexity region	1446	1464	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (123/130)

Allele List at MGI

Other mutations in this stock

Total: 125 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	C	T	11: 23,575,491	R716H	probably damaging	Het
4930432E11Rik	C	T	7: 29,561,285		noncoding transcript	Het
A430078G23Rik	T	C	8: 3,386,959	Y250H	probably damaging	Het
Abcb11	A	G	2: 69,285,283	I579T	probably damaging	Het
Abcc9	T	C	6: 142,682,104	N400S	probably benign	Het
Adarb2	T	C	13: 8,731,819	L577P	probably damaging	Het
Agt	A	C	8: 124,557,113	N422K	probably damaging	Het
Ahnak	A	T	19: 9,013,402	K4017*	probably null	Het
Akap13	C	A	7: 75,747,746	Q2575K	probably damaging	Het
Aldh3a2	A	T	11: 61,253,715	I339K	probably damaging	Het
Alox15	G	T	11: 70,345,624	Y483*	probably null	Het
Ampd1	A	T	3: 103,099,597	I713F	probably damaging	Het
Amph	A	T	13: 19,113,116	E344V	possibly damaging	Het
Arid5b	A	G	10: 68,096,977	S1032P	probably damaging	Het
Armc8	C	A	9: 99,505,688	L393F	probably damaging	Het
Bpnt1	A	G	1: 185,345,426		probably null	Het
Cachd1	G	A	4: 100,988,221	R970H	probably damaging	Het
Cd207	T	C	6: 83,675,756	T131A	probably benign	Het
Cd83	G	A	13: 43,797,533	V54I	probably benign	Het
Cfap43	T	C	19: 47,763,676	K1086E	probably benign	Het
Cfap65	A	T	1: 74,902,169	V1837E	probably benign	Het
Clcnka	T	A	4: 141,396,606	H89L	probably benign	Het
Cnga4	T	C	7: 105,404,975	I50T	possibly damaging	Het
Cog5	A	G	12: 31,837,359		probably benign	Het
Col11a2	T	A	17: 34,059,348		probably null	Het
Col28a1	T	G	6: 8,175,291	I186L	possibly damaging	Het
Col4a2	T	A	8: 11,431,252	M808K	probably benign	Het
Copb2	A	G	9: 98,563,475		probably benign	Het
Dbnl	G	A	11: 5,795,441		probably benign	Het
Dbx2	T	C	15: 95,654,612	T51A	possibly damaging	Het
Dcp1a	A	T	14: 30,502,885	M123L	probably damaging	Het
Ddx42	T	A	11: 106,232,833	F217I	probably benign	Het
Dlc1	T	C	8: 36,858,051	T367A	probably benign	Het
Dmgdh	A	T	13: 93,752,355	T834S	probably benign	Het
Dnah8	T	C	17: 30,684,173	S929P	probably damaging	Het
Dnase1l2	C	A	17: 24,441,082	V271L	possibly damaging	Het
Dsc1	T	C	18: 20,096,057	Y392C	probably damaging	Het
Edn1	T	C	13: 42,305,242		probably benign	Het
Eps8l3	T	C	3: 107,884,810	L351P	probably damaging	Het
F12	G	A	13: 55,422,483		probably benign	Het
Fam47e	T	C	5: 92,578,458		probably benign	Het
Fcrl5	C	A	3: 87,442,013	Q32K	probably benign	Het
Fndc1	C	T	17: 7,741,673	V1637I	possibly damaging	Het
Foxg1	G	T	12: 49,384,567		probably benign	Het
Frrs1	A	T	3: 116,902,421	I530F	possibly damaging	Het
Galnt5	A	T	2: 57,999,085	K232N	probably benign	Het
Ggt5	G	A	10: 75,602,648	V68M	probably damaging	Het
Gm11639	G	A	11: 104,720,501	D390N	probably benign	Het
Gm13084	A	C	4: 143,812,585	S113A	possibly damaging	Het
Gm16519	T	C	17: 70,929,106	C17R	probably benign	Het
Gm17535	A	G	9: 3,035,804	Y224C	probably null	Het
Gm9631	T	G	11: 121,945,629	D28A	probably damaging	Het
Gpx2	T	C	12: 76,795,313	I21M	probably benign	Het
H2-Q2	T	G	17: 35,345,685	D354E	probably damaging	Het
Icam2	A	T	11: 106,380,891	I71K	probably damaging	Het
Il12a	T	C	3: 68,697,890		probably benign	Het
Insm2	C	G	12: 55,600,440	A323G	probably benign	Het
Itga1	T	C	13: 114,968,299	T1064A	probably benign	Het
Itgad	T	A	7: 128,174,004	V11E	possibly damaging	Het
Kctd15	C	T	7: 34,644,881	S115N	probably damaging	Het
Klra5	A	G	6: 129,903,564	W124R	probably damaging	Het
Kng2	T	A	16: 22,987,736	D571V	probably benign	Het
Kpna6	A	T	4: 129,650,790	F380I	probably benign	Het
Lipo1	A	T	19: 33,784,769	Y109*	probably null	Het
Man2a2	T	C	7: 80,363,197	H540R	possibly damaging	Het
Map2k4	T	C	11: 65,712,275	E188G	probably damaging	Het
Mast4	T	C	13: 102,758,744		probably benign	Het
Mbtd1	A	G	11: 93,905,212	D25G	probably damaging	Het
Med13	T	A	11: 86,331,089	Q238L	possibly damaging	Het
Mmachc	A	G	4: 116,703,654	Y215H	probably damaging	Het
Mtor	T	A	4: 148,484,354	Y1110*	probably null	Het
Nek2	A	G	1: 191,822,219	N57D	probably damaging	Het
Nek7	ACCCC	ACCC	1: 138,515,693		probably null	Het
Neo1	G	T	9: 58,931,034	T489K	probably damaging	Het
Neu1	T	A	17: 34,934,760	Y387N	probably damaging	Het
Nfasc	A	T	1: 132,608,438	C586*	probably null	Het
Nle1	G	A	11: 82,904,845	L259F	probably damaging	Het
Nrde2	G	A	12: 100,143,846	Q309*	probably null	Het
Nufip2	C	T	11: 77,686,453	H76Y	probably benign	Het
Olfr1330	A	C	4: 118,893,490	T136P	probably damaging	Het
Olfr1383	A	T	11: 49,524,578	N285I	probably damaging	Het
Olfr466	A	T	13: 65,153,063	I280F	probably damaging	Het
Olfr584	T	C	7: 103,086,151	F206S	probably damaging	Het
Olfr670	A	T	7: 104,959,811	I307N	probably benign	Het
Olfr731	A	T	14: 50,238,639	I82N	probably damaging	Het
Pcdhb5	A	G	18: 37,321,622	T352A	probably benign	Het
Pcdhb7	A	T	18: 37,343,389	D526V	probably damaging	Het
Phkg1	A	T	5: 129,864,553		probably null	Het
Plg	C	T	17: 12,418,736	T744M	probably damaging	Het
Plxnd1	A	C	6: 115,958,699		probably benign	Het
Poglut1	A	T	16: 38,529,475	I312N	probably damaging	Het
Ppp1r16a	C	T	15: 76,690,799		probably benign	Het
Ppt1	A	G	4: 122,844,099	M77V	probably benign	Het
Pramel5	G	T	4: 144,271,620	T351N	probably damaging	Het
Psmb4	G	A	3: 94,884,964	R216C	probably benign	Het
Ptprd	T	C	4: 76,084,403	T699A	probably damaging	Het
Retreg3	A	T	11: 101,098,629		probably benign	Het
Scaper	G	A	9: 55,758,056	A389V	probably damaging	Het
Serinc5	G	A	13: 92,688,737	D225N	possibly damaging	Het
Slco1a1	T	G	6: 141,925,754		probably benign	Het
Snapc1	C	T	12: 73,975,032	R81C	probably damaging	Het
Sod3	A	T	5: 52,368,079	D40V	probably benign	Het
Sorcs3	C	A	19: 48,206,295	A39E	probably benign	Het
Spon1	A	T	7: 114,039,821	T761S	probably benign	Het
Syde2	A	G	3: 146,014,249		probably null	Het
Synm	T	A	7: 67,759,168	D154V	probably benign	Het
Synpo2	T	C	3: 123,114,449	E406G	probably damaging	Het
Tcea3	T	A	4: 136,248,071	L8*	probably null	Het
Tec	G	A	5: 72,823,497	L33F	probably damaging	Het
Tex15	T	A	8: 33,582,326	S2634T	possibly damaging	Het
Tg	T	A	15: 66,729,626	Y162N	probably damaging	Het
Tmem8b	G	A	4: 43,690,123	V853I	probably benign	Het
Togaram1	A	G	12: 65,021,466	K1748E	probably damaging	Het
Ttn	T	C	2: 76,898,478		probably benign	Het
Usp36	C	T	11: 118,273,021	D234N	probably damaging	Het
Usp40	G	A	1: 87,978,522	P664S	probably benign	Het
Vmn1r54	T	A	6: 90,269,653	L183H	probably benign	Het
Vmn1r58	T	G	7: 5,410,677	I185L	probably benign	Het
Wnt8a	A	T	18: 34,547,565	R328W	probably benign	Het
Yars	A	G	4: 129,213,939		probably benign	Het
Zbtb49	A	C	5: 38,200,674	M745R	probably damaging	Het
Zeb1	T	G	18: 5,759,027	F162V	probably damaging	Het
Zfp369	A	T	13: 65,297,548	H835L	probably damaging	Het
Zic5	A	G	14: 122,463,939	V460A	unknown	Het
Zp3	A	G	5: 135,984,356	N181D	possibly damaging	Het

Other mutations in Gm884

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00572:Gm884	APN	11	103615410	missense	probably benign	0.01
IGL00576:Gm884	APN	11	103617386	unclassified	probably benign
IGL00813:Gm884	APN	11	103614498	missense	probably benign	0.05
IGL01311:Gm884	APN	11	103534676	missense	unknown
IGL01946:Gm884	APN	11	103612933	missense	probably benign	0.28
IGL02217:Gm884	APN	11	103612871	splice site	probably benign
IGL02556:Gm884	APN	11	103613283	missense	probably benign	0.01
IGL02825:Gm884	APN	11	103617068	unclassified	probably benign
IGL02868:Gm884	APN	11	103615139	missense	probably benign	0.10
IGL02904:Gm884	APN	11	103616361	unclassified	probably benign
IGL03008:Gm884	APN	11	103620467	missense	unknown
IGL03120:Gm884	APN	11	103616975	unclassified	probably benign
IGL03159:Gm884	APN	11	103604502	splice site	probably benign
IGL03181:Gm884	APN	11	103616416	unclassified	probably benign
IGL03202:Gm884	APN	11	103615373	missense	probably benign	0.03
IGL03263:Gm884	APN	11	103613699	missense	possibly damaging	0.86
esteemed	UTSW	11	103618830	missense	unknown
lauded	UTSW	11	103613103	missense	possibly damaging	0.62
PIT4486001:Gm884	UTSW	11	103618201	missense	unknown
R0040:Gm884	UTSW	11	103542990	missense	probably damaging	0.99
R0135:Gm884	UTSW	11	103618047	unclassified	probably benign
R0141:Gm884	UTSW	11	103613686	missense	probably damaging	1.00
R0226:Gm884	UTSW	11	103603241	missense	probably benign	0.08
R0547:Gm884	UTSW	11	103620164	missense	unknown
R0685:Gm884	UTSW	11	103616888	unclassified	probably benign
R0732:Gm884	UTSW	11	103619838	missense	unknown
R1015:Gm884	UTSW	11	103545796	missense	probably benign	0.01
R1166:Gm884	UTSW	11	103615383	missense	probably benign	0.21
R1168:Gm884	UTSW	11	103618950	unclassified	probably benign
R1257:Gm884	UTSW	11	103534641	missense	unknown
R1545:Gm884	UTSW	11	103608919	missense	probably benign	0.16
R1570:Gm884	UTSW	11	103609938	missense	possibly damaging	0.76
R1677:Gm884	UTSW	11	103614942	missense	probably benign	0.19
R1703:Gm884	UTSW	11	103540874	missense	probably benign	0.39
R1719:Gm884	UTSW	11	103617071	unclassified	probably benign
R1752:Gm884	UTSW	11	103614555	missense	possibly damaging	0.67
R1870:Gm884	UTSW	11	103620605	missense	unknown
R2155:Gm884	UTSW	11	103620459	missense	unknown
R2191:Gm884	UTSW	11	103618967	unclassified	probably benign
R2271:Gm884	UTSW	11	103614207	missense	possibly damaging	0.53
R2378:Gm884	UTSW	11	103619711	unclassified	probably benign
R2405:Gm884	UTSW	11	103620984	missense	unknown
R2864:Gm884	UTSW	11	103540918	missense	probably benign	0.34
R3011:Gm884	UTSW	11	103613103	missense	possibly damaging	0.62
R3415:Gm884	UTSW	11	103614609	missense	possibly damaging	0.82
R3417:Gm884	UTSW	11	103614609	missense	possibly damaging	0.82
R3835:Gm884	UTSW	11	103620010	missense	unknown
R3974:Gm884	UTSW	11	103619101	unclassified	probably benign
R4019:Gm884	UTSW	11	103615293	missense	probably benign	0.19
R4020:Gm884	UTSW	11	103615293	missense	probably benign	0.19
R4176:Gm884	UTSW	11	103536600	missense	unknown
R4361:Gm884	UTSW	11	103617501	frame shift	probably null
R4418:Gm884	UTSW	11	103618314	unclassified	probably benign
R4633:Gm884	UTSW	11	103619131	unclassified	probably benign
R4693:Gm884	UTSW	11	103619860	missense	unknown
R4758:Gm884	UTSW	11	103614464	missense	possibly damaging	0.48
R4878:Gm884	UTSW	11	103617891	unclassified	probably benign
R4887:Gm884	UTSW	11	103614872	missense	probably benign	0.03
R4944:Gm884	UTSW	11	103613460	missense	possibly damaging	0.68
R4952:Gm884	UTSW	11	103614207	missense	possibly damaging	0.53
R5030:Gm884	UTSW	11	103534849	missense	unknown
R5183:Gm884	UTSW	11	103543121	missense	probably damaging	0.99
R5294:Gm884	UTSW	11	103616231	unclassified	probably benign
R5317:Gm884	UTSW	11	103614145	missense	possibly damaging	0.73
R5334:Gm884	UTSW	11	103613873	missense	probably benign	0.18
R5426:Gm884	UTSW	11	103620760	missense	unknown
R5467:Gm884	UTSW	11	103603265	nonsense	probably null
R5518:Gm884	UTSW	11	103615253	missense	probably benign	0.03
R5634:Gm884	UTSW	11	103542014	missense	possibly damaging	0.95
R5647:Gm884	UTSW	11	103617474	unclassified	probably benign
R5663:Gm884	UTSW	11	103613123	missense	probably benign	0.01
R5668:Gm884	UTSW	11	103617054	unclassified	probably benign
R5763:Gm884	UTSW	11	103613643	missense	probably damaging	0.97
R5829:Gm884	UTSW	11	103541886	missense	possibly damaging	0.95
R5871:Gm884	UTSW	11	103616454	unclassified	probably benign
R5905:Gm884	UTSW	11	103614255	missense	probably damaging	0.98
R5940:Gm884	UTSW	11	103613886	missense	probably benign	0.18
R5964:Gm884	UTSW	11	103542120	missense	possibly damaging	0.92
R5988:Gm884	UTSW	11	103615896	unclassified	probably benign
R5992:Gm884	UTSW	11	103613792	missense	possibly damaging	0.81
R6114:Gm884	UTSW	11	103617791	unclassified	probably benign
R6154:Gm884	UTSW	11	103614143	missense	probably benign	0.33
R6233:Gm884	UTSW	11	103613388	missense	probably damaging	0.98
R6301:Gm884	UTSW	11	103618930	unclassified	probably benign
R6362:Gm884	UTSW	11	103620652	missense	unknown
R6471:Gm884	UTSW	11	103619622	unclassified	probably benign
R6806:Gm884	UTSW	11	103621124	missense	unknown
R6962:Gm884	UTSW	11	103614300	missense	possibly damaging	0.67
R6996:Gm884	UTSW	11	103618757	nonsense	probably null
R7028:Gm884	UTSW	11	103614537	missense	probably benign	0.28
R7034:Gm884	UTSW	11	103615812	unclassified	probably benign
R7036:Gm884	UTSW	11	103615812	unclassified	probably benign
R7113:Gm884	UTSW	11	103618799	missense	unknown
R7405:Gm884	UTSW	11	103615161	missense	probably benign	0.02
R7420:Gm884	UTSW	11	103613625	missense	probably benign	0.11
R7461:Gm884	UTSW	11	103616290	missense	unknown
R7544:Gm884	UTSW	11	103615448	missense	probably benign	0.01
R7613:Gm884	UTSW	11	103616290	missense	unknown
R7711:Gm884	UTSW	11	103614912	missense	probably benign	0.02
R7714:Gm884	UTSW	11	103616893	missense	unknown
R7747:Gm884	UTSW	11	103614255	missense	probably damaging	0.98
R7814:Gm884	UTSW	11	103614173	missense	possibly damaging	0.53
R8053:Gm884	UTSW	11	103604566	missense	unknown
R8063:Gm884	UTSW	11	103542261	missense	unknown
R8116:Gm884	UTSW	11	103543289	missense	unknown
R8124:Gm884	UTSW	11	103620431	missense	unknown
R8141:Gm884	UTSW	11	103621029	missense	unknown
R8163:Gm884	UTSW	11	103615862	missense	unknown
R8270:Gm884	UTSW	11	103543315	missense	unknown
R8348:Gm884	UTSW	11	103620900	missense	unknown
R8362:Gm884	UTSW	11	103615337	missense	probably benign	0.34
R8448:Gm884	UTSW	11	103620900	missense	unknown
R8465:Gm884	UTSW	11	103616121	unclassified	probably benign
R8473:Gm884	UTSW	11	103543440	missense	unknown
R8781:Gm884	UTSW	11	103618132	missense	unknown
R8821:Gm884	UTSW	11	103619644	missense	unknown
R8859:Gm884	UTSW	11	103615544	missense	unknown
R8888:Gm884	UTSW	11	103618830	missense	unknown
R8895:Gm884	UTSW	11	103618830	missense	unknown
R9083:Gm884	UTSW	11	103619004	missense	unknown
R9085:Gm884	UTSW	11	103616739	missense	unknown
R9088:Gm884	UTSW	11	103620936	missense	unknown
R9124:Gm884	UTSW	11	103618895	missense	unknown
R9177:Gm884	UTSW	11	103617437	missense	unknown
R9238:Gm884	UTSW	11	103619033	missense	unknown
R9267:Gm884	UTSW	11	103604580	missense	unknown
R9444:Gm884	UTSW	11	103618020	nonsense	probably null
R9517:Gm884	UTSW	11	103542590	missense	unknown
R9564:Gm884	UTSW	11	103612996	missense	unknown
R9632:Gm884	UTSW	11	103542426	missense	unknown
R9741:Gm884	UTSW	11	103613429	missense	possibly damaging	0.68
Z1176:Gm884	UTSW	11	103613681	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CAGTGTCTCATTTTCACACACGCAG -3'
(R):5'- CAATGCATCTTCAAGTCCCAATGCC -3'

Sequencing Primer
(F):5'- CACGCAGAAGTCACATATTTTGG -3'
(R):5'- TCCTTCAGAGATACCTGTGGAGAC -3'

Posted On

2013-07-11