Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Tnrc18'

158641

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R1443 (G1)

Quality Score

140

Status

Not validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 142757288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1078 (S1078T)

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: S1260T

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: S1260T

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: S1078T

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: S1078T

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: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Afap1	G	T	5: 36,126,005 (GRCm39)	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably 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
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
R5826:Tnrc18	UTSW	5	142,759,502 (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'- CAGAAAGCTGTGTTCCAGGACGAG -3'
(R):5'- TTGCCGAGCCGCAGATAGAACTAC -3'

Sequencing Primer
(F):5'- AGGCTGGGGGCTGTATCC -3'
(R):5'- AGAGCACCGCATGACTG -3'

Posted On

2014-03-14