Mutagenetix > Incidental Mutation

Incidental Mutation 'R8859:Gm884'

675556

Institutional Source

Beutler Lab

Gene Symbol

Gm884

Ensembl Gene

ENSMUSG00000034239

Gene Name

predicted gene 884

Synonyms

LOC380730

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

R8859 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103534577-103621140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 103615544 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 1866 (I1866S)

Ref Sequence

ENSEMBL: ENSMUSP00000058511 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000059279
AA Change: I1866S

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: I1866S

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

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

99% (95/96)

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,378,397	Y3490F		Het
Abcc1	T	C	16: 14,396,361	V167A	probably benign	Het
Abcd2	G	A	15: 91,188,946	R337C	probably damaging	Het
Adcy1	A	G	11: 7,161,877	D914G	probably benign	Het
Ahnak	G	T	19: 9,007,203	L1950F	probably damaging	Het
Alox5ap	T	C	5: 149,265,184		probably null	Het
Ank	C	T	15: 27,562,748	H181Y	possibly damaging	Het
Ankrd44	T	A	1: 54,667,521	D592V	possibly damaging	Het
Ap4m1	T	A	5: 138,175,923	N185K	possibly damaging	Het
Arhgef28	T	A	13: 97,945,702	D1199V	probably damaging	Het
Arnt	T	C	3: 95,490,380		probably null	Het
Atcay	C	T	10: 81,224,464	V13M	probably benign	Het
B4galt3	T	C	1: 171,271,671	S2P	unknown	Het
Bicra	A	T	7: 15,987,812	S593R	possibly damaging	Het
Brsk2	A	C	7: 141,998,678	Q633P	probably damaging	Het
Cacna1c	T	A	6: 118,676,319	S909C		Het
Ccdc7a	G	A	8: 129,061,632	T72M	probably benign	Het
Cct2	A	T	10: 117,060,834	F155I	possibly damaging	Het
Cdv3	G	T	9: 103,356,395	P194T	probably damaging	Het
Cenpc1	A	T	5: 86,012,294	V895E	probably benign	Het
Cep170b	T	C	12: 112,736,447	V448A	probably benign	Het
Chil3	G	A	3: 106,164,124	R75C	possibly damaging	Het
Cnfn	A	T	7: 25,368,444	C24S	probably benign	Het
Cnga3	A	G	1: 37,260,771	K191E	possibly damaging	Het
Col12a1	A	T	9: 79,680,399	Y1153*	probably null	Het
Coq4	C	A	2: 29,795,479	H168Q	probably damaging	Het
Cyr61	T	C	3: 145,648,625	D177G	probably benign	Het
Dnajc14	G	A	10: 128,806,619	V137I	probably benign	Het
Efr3a	T	C	15: 65,854,765	L569P	probably damaging	Het
Epb41l3	A	T	17: 69,284,580	E677D	probably benign	Het
Esp8	G	A	17: 40,530,122	M91I	unknown	Het
Fubp1	A	T	3: 152,232,032		probably benign	Het
Gldc	G	T	19: 30,139,379	A391D	probably damaging	Het
Gm17728	A	G	17: 9,422,195	T46A	probably benign	Het
Gm5798	A	G	14: 41,350,646	K112E	probably damaging	Het
Gpnmb	A	G	6: 49,052,030		probably benign	Het
Grwd1	T	C	7: 45,825,874	T415A	probably benign	Het
Gsdma3	C	G	11: 98,631,260	A172G	possibly damaging	Het
Hltf	C	T	3: 20,065,402	Q204*	probably null	Het
Igf1r	T	G	7: 68,183,463	V457G	possibly damaging	Het
Inhbc	A	T	10: 127,357,115	M344K	probably damaging	Het
Jak3	C	T	8: 71,678,516	A60V	probably benign	Het
Kif13b	A	G	14: 64,742,433	T511A	probably benign	Het
Lama2	T	A	10: 27,459,388	N97I	possibly damaging	Het
Limd2	T	A	11: 106,158,750	D104V	probably damaging	Het
Loxl3	T	A	6: 83,037,545	C145S	probably damaging	Het
Lrrc73	A	G	17: 46,254,529	N62S	probably benign	Het
Lrrtm4	A	G	6: 80,021,887	D94G	probably damaging	Het
Lsm3	C	A	6: 91,522,270	F86L	probably damaging	Het
Map10	T	C	8: 125,670,552	V228A	probably benign	Het
Mcidas	A	C	13: 112,994,130	S54R	possibly damaging	Het
Me3	T	C	7: 89,806,668	Y243H	probably damaging	Het
Mgat4b	A	G	11: 50,230,847	T89A	possibly damaging	Het
Mmp16	T	A	4: 18,054,355		probably benign	Het
Mtmr9	G	A	14: 63,543,777		probably benign	Het
Myo1b	G	T	1: 51,797,039	A331E	probably damaging	Het
Ncoa6	C	T	2: 155,406,468	V1639M	possibly damaging	Het
Nek9	C	T	12: 85,306,346	G752R	probably damaging	Het
Nufip2	A	G	11: 77,693,243	Y661C	probably benign	Het
Olfr1490	T	A	19: 13,654,882	V151E	probably damaging	Het
Olfr354	C	T	2: 36,907,504	A186V	possibly damaging	Het
Olfr574	A	T	7: 102,949,166	I234F	probably damaging	Het
Olfr828	T	C	9: 18,815,696	I199M	possibly damaging	Het
Olfr972	G	A	9: 39,873,598	G108S	probably benign	Het
Oxct2a	A	G	4: 123,322,529	L353S	probably benign	Het
Parvg	A	G	15: 84,337,800	I243V	probably benign	Het
Pcdhgb7	C	A	18: 37,753,296	N506K	possibly damaging	Het
Peg10	T	TCCA	6: 4,756,451		probably benign	Het
Pgghg	G	A	7: 140,945,454		probably null	Het
Phrf1	G	T	7: 141,256,603	G263W	unknown	Het
Ppfia1	A	C	7: 144,479,025		probably null	Het
Ppp1r32	T	A	19: 10,482,235	Y36F	probably damaging	Het
Prss37	T	A	6: 40,514,963	I228F	probably damaging	Het
Ptpro	A	T	6: 137,426,784	K921*	probably null	Het
Rictor	T	G	15: 6,783,586	L940R	probably damaging	Het
Rp1	A	G	1: 4,349,960	S310P	probably benign	Het
Ryr3	A	G	2: 112,653,219	V4091A	probably damaging	Het
Sirt5	T	A	13: 43,370,851	M33K	possibly damaging	Het
Slc25a30	T	A	14: 75,771,477	Y90F	probably benign	Het
St5	T	A	7: 109,524,656	K1132M	probably damaging	Het
Stk11	G	A	10: 80,128,435	D388N	probably benign	Het
Tgm1	C	A	14: 55,712,229	R126L	probably benign	Het
Tmem110	T	A	14: 30,866,672	Y119N	probably damaging	Het
Tmem129	G	T	5: 33,654,493	T321N	probably benign	Het
Tnfrsf11a	A	T	1: 105,844,518		probably null	Het
Tor1aip1	A	G	1: 156,031,444	C195R	probably benign	Het
Tpr	A	G	1: 150,408,846	E428G	possibly damaging	Het
Trps1	T	A	15: 50,822,373	D802V	possibly damaging	Het
Usp17lc	T	A	7: 103,415,109	S6T	probably benign	Het
Vangl1	C	A	3: 102,158,442	R459L		Het
Vmn1r43	T	C	6: 89,869,955	Y183C	probably damaging	Het
Vmn2r110	C	T	17: 20,574,298	C703Y	probably damaging	Het
Vmn2r54	T	C	7: 12,629,775	Q397R	possibly damaging	Het
Vmn2r88	T	C	14: 51,418,806	V824A	probably damaging	Het
Vmn2r89	A	T	14: 51,455,713	Y79F	probably benign	Het
Vnn1	T	C	10: 23,904,586	S491P	probably benign	Het
Zbbx	A	G	3: 75,061,434	F572L	unknown	Het
Zc3h4	A	T	7: 16,435,014	Q1091L	unknown	Het
Zfp503	C	T	14: 21,987,218	V106I	possibly damaging	Het
Zfp874a	T	C	13: 67,442,528	T346A	probably benign	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
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
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
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'- AATCTGAGTTGGAGTCTCCTGC -3'
(R):5'- GGAATGGTAGTTGAACCTCCAG -3'

Sequencing Primer
(F):5'- GGAGTCTCCTGCACAGATTTAG -3'
(R):5'- GAATGGTAGTTGAACCTCCAGATCTG -3'

Posted On

2021-07-15