Mutagenetix > Incidental Mutation

Incidental Mutation 'R9186:Tnrc18'

697368

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 #

R9186 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142773488 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 447 (N447S)

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: N447S

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: N264S

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: N264S

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: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,472 (GRCm39)	R634L	probably damaging	Het
Ankhd1	T	C	18: 36,767,383 (GRCm39)	I210T	possibly damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arid3b	A	T	9: 57,702,217 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,726,620 (GRCm39)	N133D	probably damaging	Het
Bag6	C	T	17: 35,363,667 (GRCm39)	R784W	probably damaging	Het
Ccnl1	T	C	3: 65,865,426 (GRCm39)	T42A	unknown	Het
Cd164	C	A	10: 41,404,695 (GRCm39)	P151Q	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Ceacam2	T	A	7: 25,227,213 (GRCm39)	N218I	probably damaging	Het
Cfap97	C	T	8: 46,644,665 (GRCm39)	R466C	possibly damaging	Het
Colgalt2	C	A	1: 152,384,403 (GRCm39)	T581K	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dusp13b	A	T	14: 21,798,563 (GRCm39)	S34T	probably damaging	Het
Esf1	T	A	2: 139,990,792 (GRCm39)	K564I	possibly damaging	Het
F5	A	G	1: 164,021,470 (GRCm39)	N1315S	probably benign	Het
Fubp1	A	T	3: 151,926,153 (GRCm39)	M292L	probably damaging	Het
Gabrb2	A	T	11: 42,378,200 (GRCm39)	M139L	possibly damaging	Het
Gk5	T	A	9: 96,015,469 (GRCm39)	V95D	probably benign	Het
Glcci1	C	A	6: 8,537,826 (GRCm39)	P148Q	possibly damaging	Het
Gm19410	A	T	8: 36,282,629 (GRCm39)	S1952C	possibly damaging	Het
Gstm4	T	C	3: 107,952,049 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,436,227 (GRCm39)	L1211Q	probably damaging	Het
Helz2	A	G	2: 180,876,457 (GRCm39)	S1346P	possibly damaging	Het
Hexb	A	C	13: 97,325,836 (GRCm39)	V158G	probably damaging	Het
Hipk3	T	C	2: 104,301,439 (GRCm39)	E251G	probably damaging	Het
Hps5	T	C	7: 46,438,370 (GRCm39)	Y89C	probably damaging	Het
Iqub	A	T	6: 24,450,766 (GRCm39)	V611D	possibly damaging	Het
Itgbl1	G	A	14: 124,094,970 (GRCm39)	D332N	probably benign	Het
Krtap26-1	C	A	16: 88,444,609 (GRCm39)	R4L	unknown	Het
Lgi3	A	G	14: 70,772,193 (GRCm39)	Y246C	probably damaging	Het
Mug2	T	A	6: 122,052,248 (GRCm39)	I1002N	probably damaging	Het
Myo18a	C	T	11: 77,749,847 (GRCm39)	T66M		Het
Naip6	T	C	13: 100,436,390 (GRCm39)	D711G	possibly damaging	Het
Or4f59	C	A	2: 111,873,095 (GRCm39)	C94F	probably damaging	Het
Orc5	T	A	5: 22,752,944 (GRCm39)	Q48L	probably benign	Het
Oxct2a	C	A	4: 123,216,461 (GRCm39)	A307S	probably damaging	Het
Pgls	T	C	8: 72,048,833 (GRCm39)	*258Q	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Polr1c	G	T	17: 46,556,633 (GRCm39)	N97K	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prtg	T	C	9: 72,764,159 (GRCm39)	V544A	probably benign	Het
Rbl2	G	A	8: 91,828,006 (GRCm39)	G574S	probably damaging	Het
Scamp1	T	A	13: 94,344,682 (GRCm39)	T272S	possibly damaging	Het
Sun2	T	A	15: 79,611,737 (GRCm39)	D562V	probably damaging	Het
Szt2	A	G	4: 118,242,288 (GRCm39)	F1565S	probably damaging	Het
Tatdn2	C	T	6: 113,687,125 (GRCm39)	R779C	probably benign	Het
Tbc1d30	T	C	10: 121,111,639 (GRCm39)	I430V	probably benign	Het
Tmem86b	T	C	7: 4,632,725 (GRCm39)	D43G	probably damaging	Het
Trmt2a	T	C	16: 18,069,033 (GRCm39)	S292P	probably benign	Het
Trpc2	T	C	7: 101,737,492 (GRCm39)	V428A	probably damaging	Het
Tsc2	T	C	17: 24,823,862 (GRCm39)	E981G	probably damaging	Het
Ucp1	G	T	8: 84,017,272 (GRCm39)	G21*	probably null	Het
Utrn	T	C	10: 12,490,318 (GRCm39)	T21A	probably benign	Het
Vapa	A	T	17: 65,900,507 (GRCm39)	N88K	probably damaging	Het
Wasl	T	C	6: 24,664,615 (GRCm39)	R10G	probably damaging	Het
Zan	C	A	5: 137,391,810 (GRCm39)	V4662F	unknown	Het
Zap70	G	A	1: 36,818,832 (GRCm39)	M382I	possibly damaging	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	probably benign	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
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'- CTGTATTTGATGAGGCTCTGCATAGC -3'
(R):5'- GGAGAAAAGCTCGGTCATCC -3'

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

Posted On

2022-02-07