Mutagenetix > Incidental Mutation

Incidental Mutation 'R3806:Tnrc18'

274589

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

MMRRC Submission

040763-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R3806 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142787274 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 417 (A417V)

Ref Sequence

ENSEMBL: ENSMUSP00000117651 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000151477
AA Change: A600V

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: A600V

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: A417V

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: A417V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155461

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Akap9	A	G	5: 3,954,410	N108S	probably benign	Het
Ankmy1	A	G	1: 92,883,758	I636T	possibly damaging	Het
Bbs9	T	A	9: 22,887,630	D851E	probably damaging	Het
Bicd1	T	A	6: 149,518,991	L780M	probably damaging	Het
Ccdc175	T	C	12: 72,180,824	T62A	possibly damaging	Het
Clcnka	T	C	4: 141,387,290	E615G	probably null	Het
Col1a2	G	A	6: 4,518,822		probably benign	Het
Cpxm2	C	T	7: 132,080,091	M236I	probably benign	Het
Dhrs2	A	T	14: 55,234,748	N32I	probably benign	Het
Fam131a	G	A	16: 20,695,858	V70M	probably benign	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Fbxl15	G	C	19: 46,329,452	R191P	possibly damaging	Het
Fcrlb	T	C	1: 170,907,614	T315A	probably benign	Het
Fer1l4	C	T	2: 156,045,683	G531D	probably damaging	Het
Gem	C	T	4: 11,705,965	Q18*	probably null	Het
Gm4788	T	A	1: 139,753,035	K248N	probably damaging	Het
Hemk1	T	A	9: 107,337,030	I68F	probably damaging	Het
Herc3	C	A	6: 58,916,850	H970Q	probably damaging	Het
Ighv5-17	C	A	12: 113,859,298	A68S	probably benign	Het
Ip6k3	T	C	17: 27,145,000	H358R	probably damaging	Het
Itpr2	T	C	6: 146,232,291		probably null	Het
Kmt2a	C	T	9: 44,820,356		probably benign	Het
Krt16	G	T	11: 100,248,740	R51S	unknown	Het
Lamtor1	G	A	7: 101,911,345	V156I	probably damaging	Het
Lingo4	A	G	3: 94,402,100	D115G	probably damaging	Het
Lrrc7	T	C	3: 158,185,493	I346V	probably benign	Het
Man1c1	A	T	4: 134,703,351	L40Q	probably damaging	Het
Mgat4c	A	G	10: 102,388,360	N145S	probably benign	Het
Morf4l1	A	G	9: 90,095,143	S203P	probably benign	Het
Muc5ac	T	C	7: 141,813,734	I2964T	possibly damaging	Het
Naip2	T	A	13: 100,152,634	Q1196L	possibly damaging	Het
Nbas	G	A	12: 13,482,504	G1738S	probably damaging	Het
Nlrp5	A	G	7: 23,404,846	E44G	probably benign	Het
Nolc1	CCAGCAGCAGCAGCAGCAGCAGCAGC	CCAGCAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,081,352		probably benign	Het
Olfr1187-ps1	A	T	2: 88,540,356		noncoding transcript	Het
Olfr73	A	G	2: 88,034,567	S191P	possibly damaging	Het
Otof	T	A	5: 30,386,499		probably null	Het
Pcdha2	G	A	18: 36,939,529	R71H	probably benign	Het
Pcdha2	G	T	18: 36,941,691	E792*	probably null	Het
Pcnx	A	G	12: 81,950,137	T936A	possibly damaging	Het
Pofut2	T	C	10: 77,260,806	Y122H	probably damaging	Het
Psg16	A	G	7: 17,090,684	E131G	probably benign	Het
Psmd12	T	G	11: 107,495,765	D387E	probably benign	Het
Rab6a	A	G	7: 100,608,224	M1V	probably null	Het
Ripk3	T	C	14: 55,786,268	R29G	probably benign	Het
Robo4	A	T	9: 37,404,438	D329V	possibly damaging	Het
Ruvbl2	A	G	7: 45,422,190	V423A	possibly damaging	Het
Scgb2b18	T	G	7: 33,173,138	M81L	probably benign	Het
Slc24a2	A	T	4: 87,227,784	L11H	possibly damaging	Het
Slc4a1	T	C	11: 102,357,193	E325G	probably benign	Het
Syt16	A	G	12: 74,229,398	E212G	possibly damaging	Het
Them6	A	G	15: 74,721,518	D75G	probably damaging	Het
Tmem5	A	T	10: 122,081,609	V333E	possibly damaging	Het
Tmem57	C	T	4: 134,830,580	M207I	probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Zbtb22	C	T	17: 33,916,946		probably benign	Het
Zfp235	A	G	7: 24,140,621	D225G	probably benign	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
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
R9192:Tnrc18	UTSW	5	142787847	missense
R9227:Tnrc18	UTSW	5	142787637	missense
R9230:Tnrc18	UTSW	5	142787637	missense
R9582:Tnrc18	UTSW	5	142771373	missense
RF022:Tnrc18	UTSW	5	142773630	missense
Z1177:Tnrc18	UTSW	5	142773888	missense

Predicted Primers

PCR Primer
(F):5'- GCACTTAACTATCTTGTGCATGAG -3'
(R):5'- GAAGAAGAGCCCCTTTGGAG -3'

Sequencing Primer
(F):5'- ACTATCTTGTGCATGAGATCCTATG -3'
(R):5'- TTTGGAGGCCTGGGCAC -3'

Posted On

2015-04-02