Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Tnrc18'

502844

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

MMRRC Submission

044335-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 142765173 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1217 (K1217N)

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: K1399N

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: K1399N

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: K1217N

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: K1217N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,834		probably null	Het
Abtb1	T	C	6: 88,840,736	E50G	probably benign	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
Aoc1	C	A	6: 48,908,677	N705K	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,822,017	T701I	probably damaging	Het
Atg10	G	T	13: 91,208,436		probably null	Het
Atp5c1	T	C	2: 10,064,115	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346	D260G	probably benign	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dlec1	A	G	9: 119,137,253	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dok3	T	C	13: 55,523,576	N394S	probably benign	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,784,205	N34S	probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fam196a	T	C	7: 134,918,648	D51G	probably damaging	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fer1l6	T	C	15: 58,637,957	S1423P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Fxn	G	A	19: 24,262,043	R162C	probably damaging	Het
Fxr2	C	T	11: 69,652,273	T632M	probably benign	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm17018	A	G	19: 45,577,019	D144G	probably damaging	Het
Gm5538	G	A	3: 59,752,202	V359I	probably damaging	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Golga7b	A	T	19: 42,263,447	D44V	probably benign	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,384,115	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,245,701	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,896,491	T68S	possibly damaging	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kif22	A	G	7: 127,028,959	S540P	probably damaging	Het
Ldlr	T	A	9: 21,731,781	C34*	probably null	Het
Lrrtm4	T	C	6: 80,021,956	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,537,628	G94C	possibly damaging	Het
Malrd1	C	A	2: 15,695,326	H661Q	probably damaging	Het
Mical3	T	A	6: 121,016,835		probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myof	A	G	19: 37,913,357	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,203,749	R46H	probably damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr205	A	G	16: 59,329,422	V29A	possibly damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,342,656	V282I	probably benign	Het
Pcnx4	A	G	12: 72,556,874	D523G	possibly damaging	Het
Pigx	G	A	16: 32,084,586	T219I	probably damaging	Het
Plch1	G	T	3: 63,740,789	P399Q	probably damaging	Het
Pvrig	T	A	5: 138,342,275	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 104,001,407	H243L	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,231,350	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Trim33	G	A	3: 103,337,532		probably null	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,122,791	D9E	probably benign	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,243,762	F143L	possibly 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
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'- AAAGTCGACCTACGGACCAG -3'
(R):5'- TCATCTTAAGTGTGGGTGCC -3'

Sequencing Primer
(F):5'- TACGGACCAGCTATCCAGGATG -3'
(R):5'- CCTGTGATCTCAGTACTCAGGAAG -3'

Posted On

2018-02-27