Mutagenetix > Incidental Mutation

Incidental Mutation 'R7714:Gm884'

594803

Institutional Source

Beutler Lab

Gene Symbol

Gm884

Ensembl Gene

ENSMUSG00000034239

Gene Name

predicted gene 884

Synonyms

LOC380730

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R7714 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103534577-103621140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103616893 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 1416 (I1416M)

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: I1416M

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: I1416M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	A	G	14: 32,805,172	E32G	possibly damaging	Het
2010300C02Rik	T	A	1: 37,624,777	Q680L	probably benign	Het
Adam22	A	G	5: 8,117,587		probably null	Het
Agrn	C	A	4: 156,195,397	D106Y	probably damaging	Het
Arfgap3	A	T	15: 83,308,151	Y416N	probably benign	Het
Atp6v0a2	C	T	5: 124,637,595	T135M	probably damaging	Het
Bach1	C	A	16: 87,718,848	Y92*	probably null	Het
Catsperg1	A	C	7: 29,185,482	C905G	probably null	Het
Cbr2	T	C	11: 120,729,802	I219V	probably benign	Het
Ccdc3	A	T	2: 5,229,097	K244I	probably damaging	Het
Cd226	T	C	18: 89,247,309	V237A	probably damaging	Het
Chek2	T	C	5: 110,841,453	C81R	probably benign	Het
Col27a1	T	C	4: 63,324,486		probably null	Het
Crybg3	A	T	16: 59,558,873	S673T	probably benign	Het
Csmd2	T	A	4: 128,382,950	Y848*	probably null	Het
Dgkb	C	A	12: 38,630,593	T764K	probably damaging	Het
Dock4	T	A	12: 40,725,649	C530*	probably null	Het
Dpyd	A	G	3: 118,804,131	K254R	probably benign	Het
Dstyk	C	T	1: 132,456,876	P703S	possibly damaging	Het
Ehhadh	A	T	16: 21,766,390	I247N	probably damaging	Het
Fer1l5	T	G	1: 36,401,477	L597R	probably damaging	Het
Fignl1	T	C	11: 11,802,842	E71G	probably damaging	Het
Fnip2	A	C	3: 79,518,114	V58G	probably damaging	Het
Gapdhs	A	T	7: 30,731,924	I377N	probably damaging	Het
Gcn1l1	C	T	5: 115,595,300	A1059V	probably damaging	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Grik2	A	C	10: 49,419,696	I392S	probably damaging	Het
Hoxb3	T	C	11: 96,345,780	L228P	probably damaging	Het
Iws1	A	T	18: 32,090,515	M659L	probably benign	Het
Kmt2c	A	G	5: 25,375,366	C570R	probably benign	Het
Lamc3	T	A	2: 31,922,267		probably null	Het
Lipf	G	A	19: 33,965,648	G119R	probably damaging	Het
Magel2	A	T	7: 62,378,382	I345L	probably benign	Het
Mdn1	G	A	4: 32,722,360	A2381T	possibly damaging	Het
Med12l	T	C	3: 59,093,586	V690A	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Mob3b	A	G	4: 35,083,872	Y106H	probably damaging	Het
Myo1c	T	C	11: 75,658,693	Y166H	probably damaging	Het
Ndst4	A	T	3: 125,570,844	H390L	probably benign	Het
Nt5c1b	T	A	12: 10,375,472	N280K	probably damaging	Het
Olfr1471	A	T	19: 13,445,888	N292I	probably damaging	Het
Olfr433	G	A	1: 174,042,334	R128H	probably benign	Het
Otof	A	G	5: 30,370,253	F1947L	probably damaging	Het
Pabpc4	G	A	4: 123,295,309	A481T	probably benign	Het
Parm1	C	T	5: 91,593,932	T53I	possibly damaging	Het
Pilra	C	T	5: 137,835,417	R129Q	probably benign	Het
Pkd1	C	T	17: 24,550,276	A5V	unknown	Het
Pmch	T	C	10: 88,091,380	S82P	probably benign	Het
Prf1	G	A	10: 61,300,155	R70H	possibly damaging	Het
Rad51c	T	C	11: 87,401,450	S180G	probably benign	Het
Rassf8	A	C	6: 145,815,247	T100P	probably damaging	Het
Rnpepl1	A	G	1: 92,917,168	E394G	probably damaging	Het
Rufy2	T	A	10: 63,002,993	V418E	probably benign	Het
Sdad1	A	T	5: 92,302,679	V199D	probably damaging	Het
Sptbn4	A	T	7: 27,364,336	S2227T	probably benign	Het
Tac4	A	G	11: 95,265,290	M66V	probably benign	Het
Tas2r126	T	C	6: 42,435,097	V188A	probably benign	Het
Tcerg1	T	C	18: 42,560,935	V707A	possibly damaging	Het
Trav13-4-dv7	G	A	14: 53,757,898	G103D	probably damaging	Het
Trav8d-1	A	G	14: 52,778,923	S89G	probably benign	Het
Ttll4	C	T	1: 74,679,413	S141L	probably benign	Het
Vash1	T	C	12: 86,691,840	S354P	probably benign	Het
Vmn2r40	T	A	7: 8,908,117	I726F		Het
Vmn2r53	A	C	7: 12,606,491	N18K	probably damaging	Het
Wnt6	T	C	1: 74,784,263	F253S	probably damaging	Het
Zfp599	A	G	9: 22,250,515	I118T	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
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'- TCAACTACCGTTCCCATGGG -3'
(R):5'- GGATATATCCAGGGGATGCTCAC -3'

Sequencing Primer
(F):5'- CCCATGGGAGGTTCTGCATAATG -3'
(R):5'- TATCCAGGGGATGCTCACATTCAG -3'

Posted On

2019-11-12