Mutagenetix > Incidental Mutations

Incidental Mutation 'R9192:Tnrc18'

697741

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.709) question?

Stock #

R9192 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142787847 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 409 (R409L)

Ref Sequence

ENSEMBL: ENSMUSP00000114769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151477] [ENSMUST00000152247]

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: R409L

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC
low complexity region	83	98	N/A	INTRINSIC
low complexity region	240	287	N/A	INTRINSIC
low complexity region	369	390	N/A	INTRINSIC
low complexity region	457	475	N/A	INTRINSIC
low complexity region	623	634	N/A	INTRINSIC
coiled coil region	843	876	N/A	INTRINSIC
low complexity region	916	930	N/A	INTRINSIC
low complexity region	951	970	N/A	INTRINSIC
low complexity region	980	993	N/A	INTRINSIC
low complexity region	1093	1112	N/A	INTRINSIC
low complexity region	1269	1289	N/A	INTRINSIC
coiled coil region	1411	1443	N/A	INTRINSIC
low complexity region	1477	1493	N/A	INTRINSIC
low complexity region	1581	1593	N/A	INTRINSIC
low complexity region	1608	1619	N/A	INTRINSIC
low complexity region	1735	1752	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000152247
AA Change: R226L

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: R226L

Domain	Start	End	E-Value	Type
low complexity region	57	104	N/A	INTRINSIC
low complexity region	186	207	N/A	INTRINSIC
low complexity region	274	292	N/A	INTRINSIC
low complexity region	440	451	N/A	INTRINSIC
coiled coil region	660	693	N/A	INTRINSIC
low complexity region	733	747	N/A	INTRINSIC
low complexity region	768	787	N/A	INTRINSIC
low complexity region	797	810	N/A	INTRINSIC
low complexity region	910	929	N/A	INTRINSIC
low complexity region	1086	1106	N/A	INTRINSIC
coiled coil region	1228	1260	N/A	INTRINSIC
low complexity region	1294	1310	N/A	INTRINSIC
low complexity region	1398	1410	N/A	INTRINSIC
low complexity region	1425	1436	N/A	INTRINSIC
coiled coil region	1570	1592	N/A	INTRINSIC
low complexity region	1606	1618	N/A	INTRINSIC
low complexity region	1622	1640	N/A	INTRINSIC
low complexity region	1641	1653	N/A	INTRINSIC

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,704,501	M71K	probably benign	Het
Angptl4	C	T	17: 33,781,311	A28T	probably benign	Het
Baz1b	T	G	5: 135,210,794	N249K	possibly damaging	Het
BC035947	A	T	1: 78,499,240	Y218*	probably null	Het
Ctbp1	T	C	5: 33,250,989	I211V	probably benign	Het
Dars	T	C	1: 128,372,152	E365G	probably benign	Het
E2f7	G	T	10: 110,763,990	R202L	probably damaging	Het
Fscb	A	C	12: 64,474,116	I192S	possibly damaging	Het
Fsip2	A	G	2: 82,987,500	I4526V	probably benign	Het
Gm9008	T	C	6: 76,496,583	D350G	probably benign	Het
Gucy2e	A	T	11: 69,236,477	F57I	probably damaging	Het
Hcar2	A	T	5: 123,865,291	C50S	possibly damaging	Het
Herc1	G	A	9: 66,414,131	V1267I	probably benign	Het
Kansl1	A	T	11: 104,336,316	D845E	probably damaging	Het
Kdm2b	T	A	5: 122,932,616	T473S	probably benign	Het
Klhdc10	T	A	6: 30,449,500	I327N	probably damaging	Het
Kmt5b	T	C	19: 3,804,442	L235P	probably damaging	Het
Lama2	C	T	10: 27,328,185	E486K	possibly damaging	Het
Lhx6	A	T	2: 36,091,133	W266R	probably benign	Het
Mettl15	A	T	2: 109,274,465	L65*	probably null	Het
Mocos	A	G	18: 24,679,537	Q496R	probably benign	Het
Neb	T	C	2: 52,313,835	S285G	probably damaging	Het
Nos3	A	G	5: 24,377,613	N613S	probably benign	Het
Nphs2	G	A	1: 156,310,816	R10Q	probably benign	Het
Olfr1274-ps	C	A	2: 90,401,372	T237N	probably damaging	Het
Olfr641	A	T	7: 104,040,668	I291F	possibly damaging	Het
Olfr698	A	G	7: 106,753,223	L55P	probably damaging	Het
Osbpl10	T	C	9: 115,167,226	C119R	probably damaging	Het
Otop1	T	C	5: 38,287,930	V144A	probably benign	Het
Ovca2	A	G	11: 75,178,036	V179A	possibly damaging	Het
Pcdha11	A	G	18: 37,007,474	T719A	probably benign	Het
Pcdhga1	A	G	18: 37,840,031	N900D	probably damaging	Het
Pcdhga8	A	T	18: 37,726,110	Q73L	probably damaging	Het
Pclo	A	G	5: 14,540,190	K835E	unknown	Het
Psmd2	T	A	16: 20,654,662	Y158N	probably damaging	Het
Pygl	A	G	12: 70,197,048	V631A	probably damaging	Het
Rhoq	A	T	17: 86,996,977	I179F		Het
Rps6kb1	T	C	11: 86,513,555	I257M	probably damaging	Het
Sall3	G	A	18: 80,973,909	A268V	probably benign	Het
Serinc4	G	A	2: 121,456,769		probably benign	Het
Slc27a2	T	A	2: 126,587,887	M605K	probably damaging	Het
Slc5a7	T	C	17: 54,287,361	I197M	probably benign	Het
Slc6a7	A	G	18: 61,000,577	Y516H	probably damaging	Het
Spag16	A	G	1: 69,923,848	T385A	unknown	Het
Stat6	G	A	10: 127,657,610	R600H	probably damaging	Het
Stk32b	A	G	5: 37,629,000	V40A	probably damaging	Het
Sv2c	T	A	13: 96,088,247	I185L	probably benign	Het
Syne2	T	A	12: 76,109,929	L2115H	probably damaging	Het
Tas2r121	T	C	6: 132,700,529	E160G	probably benign	Het
Tle1	G	T	4: 72,118,516	T727K	probably benign	Het
Tmem79	A	T	3: 88,333,457	D61E	probably benign	Het
Tnrc6a	C	A	7: 123,189,953	P1665Q	probably damaging	Het
Tns2	C	A	15: 102,112,981	P1027Q	probably damaging	Het
Trav7-5	C	G	14: 53,531,158	A61G	probably benign	Het
Ttn	A	G	2: 76,914,911	S5265P	possibly damaging	Het
Tuba1c	T	A	15: 99,037,856	Y399*	probably null	Het
Vav2	A	T	2: 27,282,382	I504N	probably damaging	Het
Vmn2r5	G	T	3: 64,491,517	C680*	probably null	Het
Zfp644	G	C	5: 106,637,963	S239R	probably benign	Het
Zfp954	C	T	7: 7,115,934	G204S	probably damaging	Het
Zswim8	C	T	14: 20,719,520	T1265I	probably damaging	Het

Other mutations in Tnrc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tnrc18	APN	5	142763037	missense	unknown
IGL01732:Tnrc18	APN	5	142772061	missense	unknown
IGL01796:Tnrc18	APN	5	142764887	missense	possibly damaging	0.88
IGL01868:Tnrc18	APN	5	142771812	missense	unknown
IGL02010:Tnrc18	APN	5	142787294	missense	unknown
IGL02566:Tnrc18	APN	5	142772313	splice site	probably benign
IGL02688:Tnrc18	APN	5	142790172	missense	probably damaging	0.96
IGL03052:Tnrc18	UTSW	5	142775219	missense	unknown
R0129:Tnrc18	UTSW	5	142765045	splice site	probably benign
R0617:Tnrc18	UTSW	5	142776739	missense	unknown
R0894:Tnrc18	UTSW	5	142815114	missense	probably benign	0.37
R1056:Tnrc18	UTSW	5	142773859	nonsense	probably null
R1084:Tnrc18	UTSW	5	142764767	critical splice donor site	probably null
R1131:Tnrc18	UTSW	5	142787208	missense	unknown
R1411:Tnrc18	UTSW	5	142765947	missense	unknown
R1443:Tnrc18	UTSW	5	142771533	missense	unknown
R1681:Tnrc18	UTSW	5	142773817	missense	unknown
R1698:Tnrc18	UTSW	5	142788703	missense	possibly damaging	0.83
R1795:Tnrc18	UTSW	5	142815114	missense	probably benign	0.37
R1903:Tnrc18	UTSW	5	142815140	missense	probably damaging	0.99
R1930:Tnrc18	UTSW	5	142776324	missense	unknown
R1931:Tnrc18	UTSW	5	142776324	missense	unknown
R1941:Tnrc18	UTSW	5	142815150	missense	probably damaging	1.00
R2069:Tnrc18	UTSW	5	142766087	missense	unknown
R2074:Tnrc18	UTSW	5	142759706	splice site	probably null
R2089:Tnrc18	UTSW	5	142773641	missense	unknown
R2091:Tnrc18	UTSW	5	142773641	missense	unknown
R2091:Tnrc18	UTSW	5	142773641	missense	unknown
R2182:Tnrc18	UTSW	5	142760061	missense	unknown
R2190:Tnrc18	UTSW	5	142775889	missense	unknown
R2310:Tnrc18	UTSW	5	142788553	missense	probably damaging	0.96
R2372:Tnrc18	UTSW	5	142759704	splice site	probably benign
R2445:Tnrc18	UTSW	5	142772115	missense	unknown
R3806:Tnrc18	UTSW	5	142787274	missense	unknown
R4097:Tnrc18	UTSW	5	142773806	small deletion	probably benign
R4153:Tnrc18	UTSW	5	142765992	missense	possibly damaging	0.89
R4274:Tnrc18	UTSW	5	142743650	missense	unknown
R4520:Tnrc18	UTSW	5	142732150	missense	unknown
R4627:Tnrc18	UTSW	5	142740128	missense	unknown
R4852:Tnrc18	UTSW	5	142731340	missense	probably damaging	0.98
R4873:Tnrc18	UTSW	5	142765177	missense	unknown
R4875:Tnrc18	UTSW	5	142765177	missense	unknown
R4876:Tnrc18	UTSW	5	142731625	missense	unknown
R4936:Tnrc18	UTSW	5	142765977	nonsense	probably null
R4942:Tnrc18	UTSW	5	142787982	missense	unknown
R4962:Tnrc18	UTSW	5	142739493	missense	unknown
R5373:Tnrc18	UTSW	5	142740156	missense	unknown
R5374:Tnrc18	UTSW	5	142740156	missense	unknown
R5454:Tnrc18	UTSW	5	142771691	missense	unknown
R5678:Tnrc18	UTSW	5	142733564	missense	unknown
R5826:Tnrc18	UTSW	5	142773747	missense	unknown
R5891:Tnrc18	UTSW	5	142815171	missense	probably damaging	0.99
R6195:Tnrc18	UTSW	5	142765173	missense	unknown
R6296:Tnrc18	UTSW	5	142733576	missense	unknown
R6358:Tnrc18	UTSW	5	142727981	missense	probably damaging	0.99
R6452:Tnrc18	UTSW	5	142727012	missense	probably damaging	1.00
R6498:Tnrc18	UTSW	5	142732168	missense	unknown
R6711:Tnrc18	UTSW	5	142787790	missense	unknown
R6782:Tnrc18	UTSW	5	142787308	missense	unknown
R6863:Tnrc18	UTSW	5	142815197	missense	probably damaging	1.00
R6894:Tnrc18	UTSW	5	142760049	missense	unknown
R6970:Tnrc18	UTSW	5	142727989	missense	probably damaging	0.99
R7053:Tnrc18	UTSW	5	142787229	missense	unknown
R7135:Tnrc18	UTSW	5	142787817	missense
R7756:Tnrc18	UTSW	5	142787152	missense
R7902:Tnrc18	UTSW	5	142772147	missense
R8039:Tnrc18	UTSW	5	142732052	missense	unknown
R8053:Tnrc18	UTSW	5	142750630	missense	unknown
R8322:Tnrc18	UTSW	5	142726012	missense	probably damaging	1.00
R8379:Tnrc18	UTSW	5	142788402	missense
R8745:Tnrc18	UTSW	5	142787447	missense
R8837:Tnrc18	UTSW	5	142793056	missense	possibly damaging	0.94
R8894:Tnrc18	UTSW	5	142739457	missense	unknown
R8909:Tnrc18	UTSW	5	142776376	missense
R9030:Tnrc18	UTSW	5	142726063	missense	probably damaging	1.00
R9186:Tnrc18	UTSW	5	142787733	missense
R9189:Tnrc18	UTSW	5	142731352	missense	probably damaging	1.00
R9227:Tnrc18	UTSW	5	142787637	missense
R9230:Tnrc18	UTSW	5	142787637	missense
RF022:Tnrc18	UTSW	5	142773630	missense
Z1177:Tnrc18	UTSW	5	142773888	missense

Predicted Primers

PCR Primer
(F):5'- TTTGATGAGGCTCTGCATAGC -3'
(R):5'- ATCCAGATAGCATCCCAGGC -3'

Sequencing Primer
(F):5'- TGCATAGCAGAGGCCTCTC -3'
(R):5'- TGCAAGGTCCACCCGGATC -3'

Posted On

2022-02-07