Mutagenetix > Incidental Mutations

Incidental Mutation 'R4878:Gm884'

375076

Institutional Source

Beutler Lab

Gene Symbol

Gm884

Ensembl Gene

ENSMUSG00000034239

Gene Name

predicted gene 884

Synonyms

LOC380730

MMRRC Submission

042487-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R4878 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103534577-103621140 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 103617891 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000129662 (fasta)

Gene Model

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

Predicted Effect

unknown
Transcript: ENSMUST00000059279
AA Change: F1084L

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: F1084L

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 benign
Transcript: ENSMUST00000167262

SMART Domains

Protein: ENSMUSP00000129662
Gene: ENSMUSG00000034239

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

96% (70/73)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	C	A	4: 144,613,845	H47N	possibly damaging	Het
Adgrg3	A	T	8: 95,035,086	N159I	possibly damaging	Het
Agrn	A	T	4: 156,170,845	L1449Q	probably damaging	Het
Anks6	C	T	4: 47,030,795	G601S	probably damaging	Het
Atg2a	A	T	19: 6,250,244	E694V	probably damaging	Het
Ccndbp1	T	A	2: 121,014,691	L363*	probably null	Het
Cdh16	A	T	8: 104,618,064	D478E	probably damaging	Het
Cep295	A	T	9: 15,334,956	W735R	probably benign	Het
Cnnm2	C	T	19: 46,859,083	P682S	probably benign	Het
Daam2	C	A	17: 49,460,710	R951L	probably damaging	Het
Dmxl1	T	A	18: 49,851,476	F180I	probably damaging	Het
Dnajc6	T	C	4: 101,599,034		probably benign	Het
Efemp2	A	T	19: 5,480,761		probably benign	Het
Emilin1	A	G	5: 30,917,066	D217G	probably benign	Het
Enpep	A	T	3: 129,276,771	M829K	probably benign	Het
Epb41l4a	A	G	18: 33,798,572	V623A	probably damaging	Het
Erlin2	T	A	8: 27,027,166		probably null	Het
Fbln2	T	C	6: 91,256,995		probably null	Het
Gga3	A	T	11: 115,591,321	I157N	probably damaging	Het
Gtpbp6	C	T	5: 110,107,311		probably benign	Het
Hps4	T	C	5: 112,375,368	V584A	probably benign	Het
Ighv1-50	T	C	12: 115,119,947	Y51C	probably benign	Het
Kif13b	T	C	14: 64,806,154	L1801P	probably benign	Het
Kif16b	T	C	2: 142,848,003	I330V	probably damaging	Het
Klb	A	T	5: 65,348,490	R27W	probably damaging	Het
Lrif1	A	T	3: 106,735,640	K169M	probably damaging	Het
Met	A	G	6: 17,549,059	D970G	probably damaging	Het
Mical3	A	T	6: 120,969,387	M1051K	possibly damaging	Het
Mios	A	G	6: 8,215,094	N97D	probably benign	Het
Msh5	G	A	17: 35,038,456	R321C	probably damaging	Het
Mybpc1	T	C	10: 88,551,430	Q473R	possibly damaging	Het
Ncoa1	C	T	12: 4,275,004	G970D	probably damaging	Het
Neb	T	C	2: 52,219,394	Y232C	probably damaging	Het
Nefh	A	G	11: 4,941,333	S429P	probably damaging	Het
Notch3	C	T	17: 32,147,085	G1014D	probably damaging	Het
Nup107	A	T	10: 117,751,418	C859S	probably benign	Het
Olfr1033	A	G	2: 86,041,455	I47V	probably benign	Het
Olfr136	T	G	17: 38,335,627	F157V	probably benign	Het
Olfr412	T	C	11: 74,364,848	Y60H	probably damaging	Het
Otud7b	T	A	3: 96,136,510		probably benign	Het
Pde1a	A	T	2: 79,878,139	S312T	probably benign	Het
Piwil1	G	T	5: 128,740,981	R94L	probably damaging	Het
Pnma2	G	A	14: 66,917,054	W309*	probably null	Het
Ppef2	A	C	5: 92,228,740		probably null	Het
Rabac1	T	A	7: 24,969,967	Q212L	possibly damaging	Het
Rad51	T	C	2: 119,120,492		probably benign	Het
Rbm48	A	T	5: 3,591,853		probably benign	Het
Rft1	C	T	14: 30,677,804	S315L	probably benign	Het
Rgs13	C	T	1: 144,171,479	M1I	probably null	Het
Rhbg	A	C	3: 88,247,453	S215A	probably benign	Het
Rufy2	A	T	10: 63,002,211	N379I	probably damaging	Het
Slc17a1	T	C	13: 23,880,654	L367P	probably damaging	Het
Slc25a39	G	A	11: 102,403,675	R308C	probably benign	Het
Smo	A	G	6: 29,753,571	T149A	probably benign	Het
Sqle	A	G	15: 59,316,085	K81E	probably benign	Het
Tfpi	A	G	2: 84,452,555		probably null	Het
Tnk2	A	G	16: 32,679,630	D572G	probably damaging	Het
Ubr5	A	T	15: 38,006,564	M1149K	probably benign	Het
Utrn	T	A	10: 12,727,758	Q626L	probably damaging	Het
Virma	T	A	4: 11,544,971	H1643Q	probably damaging	Het
Wnt3	G	T	11: 103,808,205	G46C	possibly damaging	Het
Zkscan7	G	T	9: 122,890,800	G184*	probably null	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
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
R0646:Gm884	UTSW	11	103613160	nonsense	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCTCCTGCACAGTTTGAGAAAG -3'
(R):5'- TCCACAACCTACTGCTGAGG -3'

Sequencing Primer
(F):5'- AAAGTTCTCCCTCAGTAGCAGGTTG -3'
(R):5'- GCTGAGGGAGAACTTCTTCAAACTC -3'

Posted On

2016-03-17