Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Tnrc18'

21560

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

MMRRC Submission

038414-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R0129 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 142765045 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117651 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000151477

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477

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

probably benign
Transcript: ENSMUST00000152247

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477

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: ENSMUST00000200371

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaa2	A	G	18: 74,787,194	D31G	probably damaging	Het
Actr2	A	G	11: 20,100,939		probably benign	Het
Adcy8	A	G	15: 64,747,013	C764R	probably benign	Het
Ago4	A	C	4: 126,517,183	F171C	possibly damaging	Het
Akt2	T	C	7: 27,636,970	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,638,329	L26P	probably damaging	Het
Appl1	A	T	14: 26,928,643	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,728,063	I922N	probably damaging	Het
Atp5h	T	C	11: 115,417,918	E47G	probably damaging	Het
Birc6	A	G	17: 74,528,760	D70G	probably benign	Het
Bola2	G	A	7: 126,696,559	V56M	probably damaging	Het
Ccdc151	G	T	9: 21,993,552	R313S	probably damaging	Het
Cd300lg	A	G	11: 102,054,092		probably null	Het
Cdc42bpb	A	G	12: 111,304,959		probably benign	Het
Ceacam20	A	G	7: 19,976,260	N403S	probably damaging	Het
Cenpf	T	C	1: 189,659,650	M662V	probably benign	Het
Chd3	C	A	11: 69,348,501	E1607*	probably null	Het
Chtf18	A	T	17: 25,727,311	Y9*	probably null	Het
Clta	A	G	4: 44,032,424	N200S	probably benign	Het
Csmd1	G	A	8: 16,079,942	S1722F	possibly damaging	Het
Dennd4a	T	C	9: 64,893,294	S905P	probably damaging	Het
Dhx57	T	C	17: 80,238,914	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,596,240		probably benign	Het
Dnhd1	G	T	7: 105,720,924	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,850,027	C1120R	probably benign	Het
Efs	C	T	14: 54,917,223	A427T	probably damaging	Het
Erich6	T	C	3: 58,624,378	E399G	probably damaging	Het
Espl1	A	G	15: 102,316,648	T1431A	probably benign	Het
Fam184b	A	G	5: 45,532,778	S830P	probably damaging	Het
Fam49a	C	T	12: 12,362,349	T204I	probably damaging	Het
Herc1	T	A	9: 66,448,075	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,349,676	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,716,159	T1026I	probably benign	Het
Kif1b	A	G	4: 149,261,201	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,757,422	V87G	probably damaging	Het
Lgals12	C	T	19: 7,603,038	V155I	probably damaging	Het
Limch1	A	T	5: 66,959,590	N116I	probably damaging	Het
Lonp2	C	T	8: 86,634,890	R232C	probably damaging	Het
Lrch1	C	A	14: 74,835,746	C151F	probably benign	Het
Lrig3	A	G	10: 126,006,943	Y579C	probably damaging	Het
Macf1	T	C	4: 123,433,275	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,623,482	K501N	probably damaging	Het
Mdc1	G	T	17: 35,854,445	R1523L	probably benign	Het
Mlh3	C	T	12: 85,266,140		probably benign	Het
Mul1	T	C	4: 138,437,721		probably benign	Het
Mybl2	G	A	2: 163,059,491		probably benign	Het
Notch1	G	C	2: 26,460,458	H2223Q	probably benign	Het
Notch2	C	A	3: 98,146,620	L2200M	probably benign	Het
Olfr1329	A	T	4: 118,917,470		probably null	Het
Olfr160	T	C	9: 37,711,940	Y113C	probably damaging	Het
Olfr291	T	A	7: 84,856,988	F206L	probably benign	Het
Olfr358	G	A	2: 37,005,045	R190*	probably null	Het
Plekhs1	T	C	19: 56,477,290		probably null	Het
Ppm1h	G	A	10: 122,941,355	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,298,422	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,462,390	I372F	probably damaging	Het
Ptprt	G	A	2: 162,278,070	T159I	probably benign	Het
Rab20	A	G	8: 11,454,415	F95S	probably damaging	Het
Rfc3	A	C	5: 151,651,151	M1R	probably null	Het
Skp2	A	G	15: 9,125,193	S100P	probably damaging	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sspo	A	T	6: 48,455,418	T684S	probably benign	Het
Syt3	A	G	7: 44,393,358	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,343,504	K355N	probably damaging	Het
Tsfm	A	G	10: 127,030,470	L74P	probably benign	Het
Ttn	G	C	2: 76,734,265	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,798,908	M1I	probably null	Het
Vmn2r80	T	A	10: 79,169,496	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,522,271	S212T	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
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
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'- TCGGGTTAGAGTTAAGCCACTGAGG -3'
(R):5'- TGGGATTCAAGCATCAGCAGACAG -3'

Sequencing Primer
(F):5'- GTTCAGGGATCAGAACGCC -3'
(R):5'- GCATCAGCAGACAGCATTC -3'

Posted On

2013-04-11