Mutagenetix > Incidental Mutations

Incidental Mutation 'R5518:Gm884'

431419

Institutional Source

Beutler Lab

Gene Symbol

Gm884

Ensembl Gene

ENSMUSG00000034239

Gene Name

predicted gene 884

Synonyms

LOC380730

MMRRC Submission

043077-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R5518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103534577-103621140 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103615253 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1963 (I1963K)

Ref Sequence

ENSEMBL: ENSMUSP00000058511 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000059279
AA Change: I1963K

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000058511
Gene: ENSMUSG00000034239
AA Change: I1963K

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: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 46,120,449	E881K	probably benign	Het
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Abl1	T	A	2: 31,790,742	C349S	probably damaging	Het
Acot11	C	A	4: 106,750,010	V459L	probably benign	Het
Ank2	A	T	3: 126,959,699	V311D	probably damaging	Het
Ankrd11	C	G	8: 122,890,994	E2040Q	possibly damaging	Het
Ankrd26	T	C	6: 118,548,908	I359V	probably benign	Het
Armc3	T	G	2: 19,297,928	L684V	probably benign	Het
Asb10	G	A	5: 24,539,645	P184S	probably damaging	Het
Atp10b	T	C	11: 43,151,636	S8P	possibly damaging	Het
Blk	G	T	14: 63,378,507	S324R	possibly damaging	Het
C4b	G	C	17: 34,734,442	N1022K	probably benign	Het
Card6	G	T	15: 5,105,214	T169K	probably damaging	Het
Catsper2	T	C	2: 121,406,363	T268A	possibly damaging	Het
Cbx3	C	T	6: 51,481,746	P64S	probably benign	Het
Chchd6	A	G	6: 89,567,585		probably null	Het
Cntn1	G	A	15: 92,314,653	E899K	probably benign	Het
Col6a4	A	T	9: 106,072,188	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779	N84T	probably benign	Het
Dcxr	A	C	11: 120,726,199		probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,593,611	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,422,770	C221F	probably damaging	Het
Exoc3l	T	C	8: 105,293,163	N353D	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
G3bp2	T	A	5: 92,068,488	H63L	probably benign	Het
Galnt17	A	G	5: 130,900,590	Y460H	probably damaging	Het
Gm6003	T	A	7: 33,165,579		noncoding transcript	Het
Ighv5-12-4	A	G	12: 113,762,534	L23P	probably damaging	Het
Ins1	T	C	19: 52,264,739	L39P	probably damaging	Het
Itpr3	T	G	17: 27,087,592	V210G	probably damaging	Het
Klrb1	T	A	6: 128,706,525	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,611,708	F177I	probably damaging	Het
Mcat	A	G	15: 83,547,674		probably null	Het
Mknk2	A	T	10: 80,668,641	C229S	possibly damaging	Het
Mta2	C	A	19: 8,948,092	Q362K	probably benign	Het
Ndst4	T	C	3: 125,438,456	Y225H	probably benign	Het
Olfr1423	T	C	19: 12,036,065	R226G	probably damaging	Het
Pcdha1	A	G	18: 36,932,362	D693G	probably benign	Het
Pik3r5	G	A	11: 68,477,468	D100N	possibly damaging	Het
Pld3	T	C	7: 27,532,371	D465G	probably damaging	Het
Prkdc	T	C	16: 15,678,308	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,278,223	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,516,359	M475K	probably benign	Het
Rbak	A	G	5: 143,173,309	L663P	probably damaging	Het
Rnf17	A	G	14: 56,482,133	N947D	probably damaging	Het
Ryr2	T	C	13: 11,687,909	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,950,828	L194R	probably damaging	Het
Smg6	T	C	11: 75,053,898	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,401,516	V269E	possibly damaging	Het
Snx14	G	T	9: 88,383,802	P760Q	probably damaging	Het
Sorl1	T	C	9: 42,037,212	E759G	possibly damaging	Het
Sspo	C	T	6: 48,496,654	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,945,170	F1970I	possibly damaging	Het
Tekt3	C	A	11: 63,083,942	H362Q	probably benign	Het
Tmem121	T	C	12: 113,188,927	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,718,077	T614A	probably benign	Het
Tnc	T	C	4: 64,017,679	D340G	probably damaging	Het
Ttc28	A	T	5: 111,225,928	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,902,238	D8G	probably benign	Het
Vwde	T	C	6: 13,186,938	N850S	probably benign	Het
Zfp280d	A	G	9: 72,324,135	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818	C595R	probably damaging	Het
Zfp768	A	G	7: 127,344,411	S182P	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
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
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
Z1176:Gm884	UTSW	11	103613681	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TGAGTTAGGGTCTCCTGCACAG -3'
(R):5'- GCCACCCATAAGAATGTCAGTAG -3'

Sequencing Primer
(F):5'- CCTGCACAGGTTTAGAATTTGTAG -3'
(R):5'- TGTCAGTAGAACCTCCAGATCTG -3'

Posted On

2016-10-05