Mutagenetix > Incidental Mutation

Incidental Mutation 'R5826:Tnrc18'

450171

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

043217-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R5826 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142759502 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 778 (P778L)

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: ENSMUST00000036253
AA Change: P960L

SMART Domains

Protein: ENSMUSP00000040287
Gene: ENSMUSG00000039477
AA Change: P960L

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
low complexity region	820	859	N/A	INTRINSIC
low complexity region	915	929	N/A	INTRINSIC
low complexity region	950	969	N/A	INTRINSIC
low complexity region	979	992	N/A	INTRINSIC
low complexity region	1092	1111	N/A	INTRINSIC
low complexity region	1268	1288	N/A	INTRINSIC
coiled coil region	1410	1442	N/A	INTRINSIC
low complexity region	1476	1492	N/A	INTRINSIC
low complexity region	1580	1592	N/A	INTRINSIC
low complexity region	1607	1618	N/A	INTRINSIC
low complexity region	1734	1751	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000151477
AA Change: P960L

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: P960L

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: P778L

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: P778L

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: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,632,056 (GRCm39)	H4992R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Akr1c20	T	C	13: 4,560,222 (GRCm39)	E152G	probably damaging	Het
Ano4	T	A	10: 88,788,189 (GRCm39)	D877V	probably damaging	Het
Asb18	A	C	1: 89,942,260 (GRCm39)	S14A	probably damaging	Het
Atrnl1	T	A	19: 57,618,724 (GRCm39)	Y147*	probably null	Het
Cbfa2t2	A	G	2: 154,342,375 (GRCm39)	I30M	possibly damaging	Het
Cpd	A	T	11: 76,675,242 (GRCm39)	L1293*	probably null	Het
Csmd2	T	C	4: 128,412,992 (GRCm39)		probably null	Het
Cst9	G	A	2: 148,680,393 (GRCm39)	V120I	possibly damaging	Het
Ddah2	A	G	17: 35,279,664 (GRCm39)	D128G	probably damaging	Het
Defb11	T	C	8: 22,395,510 (GRCm39)	I56V	probably benign	Het
Dnah17	A	T	11: 117,925,193 (GRCm39)	L3880Q	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dop1a	A	G	9: 86,389,623 (GRCm39)	T508A	possibly damaging	Het
Ephb2	T	A	4: 136,388,048 (GRCm39)	H685L	probably damaging	Het
Glrb	T	C	3: 80,752,449 (GRCm39)	Y387C	probably damaging	Het
Gucy2e	A	G	11: 69,126,859 (GRCm39)	S205P	possibly damaging	Het
Has2	T	A	15: 56,531,498 (GRCm39)	I406F	probably damaging	Het
Hcrtr2	A	C	9: 76,230,569 (GRCm39)	V73G	probably benign	Het
Hsd17b4	A	T	18: 50,316,239 (GRCm39)	Q622L	probably benign	Het
Nlrp1b	A	T	11: 71,072,022 (GRCm39)	M607K	probably benign	Het
Nol6	T	A	4: 41,122,158 (GRCm39)	D184V	probably benign	Het
Noxa1	T	A	2: 24,976,253 (GRCm39)	Q345L	probably damaging	Het
Nudt6	T	C	3: 37,473,617 (GRCm39)	T35A	probably benign	Het
Phf8-ps	C	A	17: 33,284,288 (GRCm39)	R838I	possibly damaging	Het
Plcg2	T	C	8: 118,337,583 (GRCm39)	V985A	probably benign	Het
Plxnc1	C	T	10: 94,635,335 (GRCm39)		probably null	Het
Prkdc	G	A	16: 15,551,962 (GRCm39)	R2056H	probably benign	Het
Ptpn4	A	T	1: 119,612,246 (GRCm39)	I49N	probably benign	Het
Ralgapa1	T	G	12: 55,723,898 (GRCm39)	S1543R	probably damaging	Het
Rnf135	A	T	11: 80,089,912 (GRCm39)	N416I	probably damaging	Het
Scn5a	A	G	9: 119,350,399 (GRCm39)	L825P	probably damaging	Het
Septin11	A	T	5: 93,287,309 (GRCm39)	N8I	possibly damaging	Het
Slc13a3	T	C	2: 165,250,876 (GRCm39)	I456V	probably benign	Het
Slc16a3	A	G	11: 120,847,756 (GRCm39)	T315A	probably benign	Het
Sun1	T	G	5: 139,231,171 (GRCm39)	F657C	probably damaging	Het
Tmco3	T	C	8: 13,360,314 (GRCm39)	S34P	probably damaging	Het
Ubxn4	A	C	1: 128,194,058 (GRCm39)	K284T	possibly damaging	Het
Usp37	A	T	1: 74,509,785 (GRCm39)	N461K	probably damaging	Het
Vmn2r106	A	T	17: 20,499,133 (GRCm39)	F259L	probably benign	Het
Vmn2r73	T	C	7: 85,524,956 (GRCm39)	D64G	possibly damaging	Het

Other mutations in Tnrc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tnrc18	APN	5	142,748,792 (GRCm39)	missense	unknown
IGL01732:Tnrc18	APN	5	142,757,816 (GRCm39)	missense	unknown
IGL01796:Tnrc18	APN	5	142,750,642 (GRCm39)	missense	possibly damaging	0.88
IGL01868:Tnrc18	APN	5	142,757,567 (GRCm39)	missense	unknown
IGL02010:Tnrc18	APN	5	142,773,049 (GRCm39)	missense	unknown
IGL02566:Tnrc18	APN	5	142,758,068 (GRCm39)	splice site	probably benign
IGL02688:Tnrc18	APN	5	142,775,927 (GRCm39)	missense	probably damaging	0.96
IGL03052:Tnrc18	UTSW	5	142,760,974 (GRCm39)	missense	unknown
R0129:Tnrc18	UTSW	5	142,750,800 (GRCm39)	splice site	probably benign
R0617:Tnrc18	UTSW	5	142,762,494 (GRCm39)	missense	unknown
R0894:Tnrc18	UTSW	5	142,800,869 (GRCm39)	missense	probably benign	0.37
R1056:Tnrc18	UTSW	5	142,759,614 (GRCm39)	nonsense	probably null
R1084:Tnrc18	UTSW	5	142,750,522 (GRCm39)	critical splice donor site	probably null
R1131:Tnrc18	UTSW	5	142,772,963 (GRCm39)	missense	unknown
R1411:Tnrc18	UTSW	5	142,751,702 (GRCm39)	missense	unknown
R1443:Tnrc18	UTSW	5	142,757,288 (GRCm39)	missense	unknown
R1681:Tnrc18	UTSW	5	142,759,572 (GRCm39)	missense	unknown
R1698:Tnrc18	UTSW	5	142,774,458 (GRCm39)	missense	possibly damaging	0.83
R1795:Tnrc18	UTSW	5	142,800,869 (GRCm39)	missense	probably benign	0.37
R1903:Tnrc18	UTSW	5	142,800,895 (GRCm39)	missense	probably damaging	0.99
R1930:Tnrc18	UTSW	5	142,762,079 (GRCm39)	missense	unknown
R1931:Tnrc18	UTSW	5	142,762,079 (GRCm39)	missense	unknown
R1941:Tnrc18	UTSW	5	142,800,905 (GRCm39)	missense	probably damaging	1.00
R2069:Tnrc18	UTSW	5	142,751,842 (GRCm39)	missense	unknown
R2074:Tnrc18	UTSW	5	142,745,461 (GRCm39)	splice site	probably null
R2089:Tnrc18	UTSW	5	142,759,396 (GRCm39)	missense	unknown
R2091:Tnrc18	UTSW	5	142,759,396 (GRCm39)	missense	unknown
R2091:Tnrc18	UTSW	5	142,759,396 (GRCm39)	missense	unknown
R2182:Tnrc18	UTSW	5	142,745,816 (GRCm39)	missense	unknown
R2190:Tnrc18	UTSW	5	142,761,644 (GRCm39)	missense	unknown
R2310:Tnrc18	UTSW	5	142,774,308 (GRCm39)	missense	probably damaging	0.96
R2372:Tnrc18	UTSW	5	142,745,459 (GRCm39)	splice site	probably benign
R2445:Tnrc18	UTSW	5	142,757,870 (GRCm39)	missense	unknown
R3806:Tnrc18	UTSW	5	142,773,029 (GRCm39)	missense	unknown
R4097:Tnrc18	UTSW	5	142,759,561 (GRCm39)	small deletion	probably benign
R4153:Tnrc18	UTSW	5	142,751,747 (GRCm39)	missense	possibly damaging	0.89
R4274:Tnrc18	UTSW	5	142,729,405 (GRCm39)	missense	unknown
R4520:Tnrc18	UTSW	5	142,717,905 (GRCm39)	missense	unknown
R4627:Tnrc18	UTSW	5	142,725,883 (GRCm39)	missense	unknown
R4852:Tnrc18	UTSW	5	142,717,095 (GRCm39)	missense	probably damaging	0.98
R4873:Tnrc18	UTSW	5	142,750,932 (GRCm39)	missense	unknown
R4875:Tnrc18	UTSW	5	142,750,932 (GRCm39)	missense	unknown
R4876:Tnrc18	UTSW	5	142,717,380 (GRCm39)	missense	unknown
R4936:Tnrc18	UTSW	5	142,751,732 (GRCm39)	nonsense	probably null
R4942:Tnrc18	UTSW	5	142,773,737 (GRCm39)	missense	unknown
R4962:Tnrc18	UTSW	5	142,725,248 (GRCm39)	missense	unknown
R5373:Tnrc18	UTSW	5	142,725,911 (GRCm39)	missense	unknown
R5374:Tnrc18	UTSW	5	142,725,911 (GRCm39)	missense	unknown
R5454:Tnrc18	UTSW	5	142,757,446 (GRCm39)	missense	unknown
R5678:Tnrc18	UTSW	5	142,719,319 (GRCm39)	missense	unknown
R5891:Tnrc18	UTSW	5	142,800,926 (GRCm39)	missense	probably damaging	0.99
R6195:Tnrc18	UTSW	5	142,750,928 (GRCm39)	missense	unknown
R6296:Tnrc18	UTSW	5	142,719,331 (GRCm39)	missense	unknown
R6358:Tnrc18	UTSW	5	142,713,736 (GRCm39)	missense	probably damaging	0.99
R6452:Tnrc18	UTSW	5	142,712,767 (GRCm39)	missense	probably damaging	1.00
R6498:Tnrc18	UTSW	5	142,717,923 (GRCm39)	missense	unknown
R6711:Tnrc18	UTSW	5	142,773,545 (GRCm39)	missense	unknown
R6782:Tnrc18	UTSW	5	142,773,063 (GRCm39)	missense	unknown
R6863:Tnrc18	UTSW	5	142,800,952 (GRCm39)	missense	probably damaging	1.00
R6894:Tnrc18	UTSW	5	142,745,804 (GRCm39)	missense	unknown
R6970:Tnrc18	UTSW	5	142,713,744 (GRCm39)	missense	probably damaging	0.99
R7053:Tnrc18	UTSW	5	142,772,984 (GRCm39)	missense	unknown
R7135:Tnrc18	UTSW	5	142,773,572 (GRCm39)	missense
R7756:Tnrc18	UTSW	5	142,772,907 (GRCm39)	missense
R7902:Tnrc18	UTSW	5	142,757,902 (GRCm39)	missense
R8039:Tnrc18	UTSW	5	142,717,807 (GRCm39)	missense	unknown
R8053:Tnrc18	UTSW	5	142,736,385 (GRCm39)	missense	unknown
R8322:Tnrc18	UTSW	5	142,711,767 (GRCm39)	missense	probably damaging	1.00
R8379:Tnrc18	UTSW	5	142,774,157 (GRCm39)	missense
R8745:Tnrc18	UTSW	5	142,773,202 (GRCm39)	missense
R8837:Tnrc18	UTSW	5	142,778,811 (GRCm39)	missense	possibly damaging	0.94
R8894:Tnrc18	UTSW	5	142,725,212 (GRCm39)	missense	unknown
R8909:Tnrc18	UTSW	5	142,762,131 (GRCm39)	missense
R9030:Tnrc18	UTSW	5	142,711,818 (GRCm39)	missense	probably damaging	1.00
R9186:Tnrc18	UTSW	5	142,773,488 (GRCm39)	missense
R9189:Tnrc18	UTSW	5	142,717,107 (GRCm39)	missense	probably damaging	1.00
R9192:Tnrc18	UTSW	5	142,773,602 (GRCm39)	missense
R9227:Tnrc18	UTSW	5	142,773,392 (GRCm39)	missense
R9230:Tnrc18	UTSW	5	142,773,392 (GRCm39)	missense
R9582:Tnrc18	UTSW	5	142,757,128 (GRCm39)	missense
RF022:Tnrc18	UTSW	5	142,759,385 (GRCm39)	missense
Z1177:Tnrc18	UTSW	5	142,759,643 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CCAGTGGATAAATGAGTGAGCC -3'
(R):5'- TCCTGCCTCGAAAGTCTGC -3'

Sequencing Primer
(F):5'- CGAGCATATGAACAGACAAGC -3'
(R):5'- TCGAAAGTCTGCCGGCCTG -3'

Posted On

2016-12-20