Mutagenetix > Incidental Mutation

Incidental Mutation 'R9192:Tnrc18'

697741

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R9192 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 142773602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 409 (R409L)

Ref Sequence

ENSEMBL: ENSMUSP00000114769 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: R409L

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: R226L

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: R226L

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	A	7: 75,354,249 (GRCm39)	M71K	probably benign	Het
Angptl4	C	T	17: 34,000,285 (GRCm39)	A28T	probably benign	Het
Baz1b	T	G	5: 135,239,648 (GRCm39)	N249K	possibly damaging	Het
BC035947	A	T	1: 78,475,877 (GRCm39)	Y218*	probably null	Het
Ctbp1	T	C	5: 33,408,333 (GRCm39)	I211V	probably benign	Het
Dars1	T	C	1: 128,299,889 (GRCm39)	E365G	probably benign	Het
E2f7	G	T	10: 110,599,851 (GRCm39)	R202L	probably damaging	Het
Fscb	A	C	12: 64,520,890 (GRCm39)	I192S	possibly damaging	Het
Fsip2	A	G	2: 82,817,844 (GRCm39)	I4526V	probably benign	Het
Gucy2e	A	T	11: 69,127,303 (GRCm39)	F57I	probably damaging	Het
Hcar2	A	T	5: 124,003,354 (GRCm39)	C50S	possibly damaging	Het
Herc1	G	A	9: 66,321,413 (GRCm39)	V1267I	probably benign	Het
Kansl1	A	T	11: 104,227,142 (GRCm39)	D845E	probably damaging	Het
Kdm2b	T	A	5: 123,070,679 (GRCm39)	T473S	probably benign	Het
Klhdc10	T	A	6: 30,449,499 (GRCm39)	I327N	probably damaging	Het
Kmt5b	T	C	19: 3,854,442 (GRCm39)	L235P	probably damaging	Het
Lama2	C	T	10: 27,204,181 (GRCm39)	E486K	possibly damaging	Het
Lhx6	A	T	2: 35,981,145 (GRCm39)	W266R	probably benign	Het
Mettl15	A	T	2: 109,104,810 (GRCm39)	L65*	probably null	Het
Mocos	A	G	18: 24,812,594 (GRCm39)	Q496R	probably benign	Het
Neb	T	C	2: 52,203,847 (GRCm39)	S285G	probably damaging	Het
Nos3	A	G	5: 24,582,611 (GRCm39)	N613S	probably benign	Het
Nphs2	G	A	1: 156,138,386 (GRCm39)	R10Q	probably benign	Het
Or2ag16	A	G	7: 106,352,430 (GRCm39)	L55P	probably damaging	Het
Or4x13	C	A	2: 90,231,716 (GRCm39)	T237N	probably damaging	Het
Or51i2	A	T	7: 103,689,875 (GRCm39)	I291F	possibly damaging	Het
Osbpl10	T	C	9: 114,996,294 (GRCm39)	C119R	probably damaging	Het
Otop1	T	C	5: 38,445,274 (GRCm39)	V144A	probably benign	Het
Ovca2	A	G	11: 75,068,862 (GRCm39)	V179A	possibly damaging	Het
Pcdha11	A	G	18: 37,140,527 (GRCm39)	T719A	probably benign	Het
Pcdhga1	A	G	18: 37,973,084 (GRCm39)	N900D	probably damaging	Het
Pcdhga8	A	T	18: 37,859,163 (GRCm39)	Q73L	probably damaging	Het
Pclo	A	G	5: 14,590,204 (GRCm39)	K835E	unknown	Het
Psmd2	T	A	16: 20,473,412 (GRCm39)	Y158N	probably damaging	Het
Pygl	A	G	12: 70,243,822 (GRCm39)	V631A	probably damaging	Het
Rhoq	A	T	17: 87,304,405 (GRCm39)	I179F		Het
Rnf26rt	T	C	6: 76,473,566 (GRCm39)	D350G	probably benign	Het
Rps6kb1	T	C	11: 86,404,381 (GRCm39)	I257M	probably damaging	Het
Sall3	G	A	18: 81,017,124 (GRCm39)	A268V	probably benign	Het
Serinc4	G	A	2: 121,287,250 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,429,807 (GRCm39)	M605K	probably damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Slc6a7	A	G	18: 61,133,649 (GRCm39)	Y516H	probably damaging	Het
Spag16	A	G	1: 69,963,007 (GRCm39)	T385A	unknown	Het
Stat6	G	A	10: 127,493,479 (GRCm39)	R600H	probably damaging	Het
Stk32b	A	G	5: 37,786,344 (GRCm39)	V40A	probably damaging	Het
Sv2c	T	A	13: 96,224,755 (GRCm39)	I185L	probably benign	Het
Syne2	T	A	12: 76,156,703 (GRCm39)	L2115H	probably damaging	Het
Tas2r121	T	C	6: 132,677,492 (GRCm39)	E160G	probably benign	Het
Tle1	G	T	4: 72,036,753 (GRCm39)	T727K	probably benign	Het
Tmem79	A	T	3: 88,240,764 (GRCm39)	D61E	probably benign	Het
Tnrc6a	C	A	7: 122,789,176 (GRCm39)	P1665Q	probably damaging	Het
Tns2	C	A	15: 102,021,416 (GRCm39)	P1027Q	probably damaging	Het
Trav7-5	C	G	14: 53,768,615 (GRCm39)	A61G	probably benign	Het
Ttn	A	G	2: 76,745,255 (GRCm39)	S5265P	possibly damaging	Het
Tuba1c	T	A	15: 98,935,737 (GRCm39)	Y399*	probably null	Het
Vav2	A	T	2: 27,172,394 (GRCm39)	I504N	probably damaging	Het
Vmn2r5	G	T	3: 64,398,938 (GRCm39)	C680*	probably null	Het
Zfp644	G	C	5: 106,785,829 (GRCm39)	S239R	probably benign	Het
Zfp954	C	T	7: 7,118,933 (GRCm39)	G204S	probably damaging	Het
Zswim8	C	T	14: 20,769,588 (GRCm39)	T1265I	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
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
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
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'- TTTGATGAGGCTCTGCATAGC -3'
(R):5'- ATCCAGATAGCATCCCAGGC -3'

Sequencing Primer
(F):5'- TGCATAGCAGAGGCCTCTC -3'
(R):5'- TGCAAGGTCCACCCGGATC -3'

Posted On

2022-02-07