Mutagenetix > Incidental Mutation

Incidental Mutation 'R2074:Tnrc18'

227415

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

MMRRC Submission

040079-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.784) question?

Stock #

R2074 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

C to T at 142759706 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117651 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000036253

SMART Domains

Protein: ENSMUSP00000040287
Gene: ENSMUSG00000039477

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

probably null
Transcript: ENSMUST00000151477

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477

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

probably null
Transcript: ENSMUST00000152247

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,974,171 (GRCm38)	D1168V	probably benign	Het
4930430A15Rik	T	C	2: 111,200,418 (GRCm38)	E382G	probably damaging	Het
9130011E15Rik	A	T	19: 45,965,381 (GRCm38)	I188K	probably damaging	Het
Ace	C	T	11: 105,976,623 (GRCm38)	Q484*	probably null	Het
Ackr3	T	C	1: 90,213,981 (GRCm38)	I54T	probably damaging	Het
Aco1	G	A	4: 40,183,605 (GRCm38)	G508S	probably damaging	Het
Akap8l	C	T	17: 32,332,483 (GRCm38)	R511H	probably damaging	Het
Ankef1	T	C	2: 136,545,738 (GRCm38)	S192P	possibly damaging	Het
Ankrd16	T	G	2: 11,789,748 (GRCm38)	C315G	possibly damaging	Het
Ankzf1	T	C	1: 75,196,243 (GRCm38)	S328P	probably damaging	Het
Aqp2	A	G	15: 99,583,100 (GRCm38)	I176V	probably benign	Het
Arhgap45	A	G	10: 80,027,180 (GRCm38)	Y730C	probably damaging	Het
Asxl2	A	G	12: 3,493,779 (GRCm38)	E316G	probably damaging	Het
Btbd17	A	T	11: 114,791,952 (GRCm38)		probably null	Het
Calu	A	G	6: 29,372,615 (GRCm38)	Y263C	probably damaging	Het
Ccdc122	T	C	14: 77,068,951 (GRCm38)		probably null	Het
Cenpf	T	C	1: 189,656,901 (GRCm38)	K1578R	probably damaging	Het
Cep120	A	G	18: 53,719,312 (GRCm38)	V498A	possibly damaging	Het
Ces1a	T	A	8: 93,048,075 (GRCm38)	N12Y	probably benign	Het
Chmp1a	A	T	8: 123,208,022 (GRCm38)	M65K	probably damaging	Het
Cnot1	G	T	8: 95,739,833 (GRCm38)	T1592K	possibly damaging	Het
Cps1	T	A	1: 67,204,638 (GRCm38)	I1091N	probably benign	Het
Dhx32	T	C	7: 133,721,292 (GRCm38)	N731S	probably benign	Het
Dhx33	G	A	11: 70,999,843 (GRCm38)	R177W	probably damaging	Het
Dmd	G	C	X: 84,312,483 (GRCm38)	A2257P	probably benign	Het
Dnah10	T	C	5: 124,814,674 (GRCm38)	S3259P	probably damaging	Het
Dnah7a	T	C	1: 53,457,696 (GRCm38)	I3134V	probably benign	Het
Dock3	A	G	9: 106,993,463 (GRCm38)	F584S	possibly damaging	Het
Dtnb	A	G	12: 3,781,273 (GRCm38)	T658A	probably benign	Het
Duox2	T	A	2: 122,295,158 (GRCm38)	S323C	probably damaging	Het
Elovl3	A	T	19: 46,132,167 (GRCm38)	E33V	probably damaging	Het
Enpp5	T	C	17: 44,085,373 (GRCm38)	F392S	probably benign	Het
Eogt	T	C	6: 97,131,376 (GRCm38)	T235A	probably benign	Het
Etv3	T	C	3: 87,536,219 (GRCm38)	V370A	probably benign	Het
Ewsr1	C	T	11: 5,071,555 (GRCm38)	R466H	unknown	Het
Fam208a	T	A	14: 27,461,213 (GRCm38)	I543K	probably benign	Het
Fcgbp	G	A	7: 28,120,389 (GRCm38)	G2514S	probably damaging	Het
Flt1	A	T	5: 147,599,606 (GRCm38)	D808E	possibly damaging	Het
Glg1	C	T	8: 111,168,671 (GRCm38)	G836E	probably damaging	Het
Gm17334	A	G	11: 53,772,828 (GRCm38)		probably benign	Het
Gpbp1	A	T	13: 111,453,407 (GRCm38)	D51E	probably benign	Het
Il12rb2	C	G	6: 67,360,552 (GRCm38)	C115S	probably damaging	Het
Il1rl1	T	C	1: 40,462,044 (GRCm38)	S527P	probably damaging	Het
Ireb2	A	G	9: 54,881,449 (GRCm38)	D69G	probably benign	Het
Kif5a	T	C	10: 127,245,369 (GRCm38)	D232G	probably damaging	Het
M1ap	A	G	6: 82,981,882 (GRCm38)	I165V	probably benign	Het
Mff	T	A	1: 82,751,700 (GRCm38)	L287H	probably damaging	Het
Mmp27	A	G	9: 7,577,739 (GRCm38)	M311V	possibly damaging	Het
Mpped2	T	A	2: 106,744,802 (GRCm38)	Y77*	probably null	Het
Mybbp1a	G	A	11: 72,441,445 (GRCm38)	S21N	probably benign	Het
Obscn	T	C	11: 59,132,652 (GRCm38)	D633G	probably damaging	Het
Obscn	G	C	11: 59,069,281 (GRCm38)	I3253M	probably damaging	Het
Olfr1247	A	G	2: 89,609,478 (GRCm38)	V208A	probably benign	Het
Olfr1404	A	T	1: 173,215,810 (GRCm38)	D53V	probably damaging	Het
Olr1	C	T	6: 129,502,094 (GRCm38)	V54I	probably benign	Het
Phlpp2	T	C	8: 109,928,492 (GRCm38)	S605P	possibly damaging	Het
Plekhg4	TAGTCGATGCCCGAGTC	TAGTC	8: 105,376,452 (GRCm38)		probably benign	Het
Prss8	C	A	7: 127,927,094 (GRCm38)	R148L	possibly damaging	Het
Psg27	T	C	7: 18,560,417 (GRCm38)	D355G	probably damaging	Het
Rabgef1	C	A	5: 130,187,561 (GRCm38)	Q52K	probably benign	Het
Rnf6	C	T	5: 146,210,906 (GRCm38)	R434H	probably damaging	Het
Rpl26	A	G	11: 68,903,273 (GRCm38)	E88G	probably benign	Het
Rpn1	T	A	6: 88,100,962 (GRCm38)	L460Q	probably damaging	Het
Sap130	T	A	18: 31,648,279 (GRCm38)	I165N	probably damaging	Het
Sash1	A	G	10: 8,756,697 (GRCm38)	V258A	probably damaging	Het
Scarb1	G	T	5: 125,294,143 (GRCm38)	N288K	probably benign	Het
Sec16a	A	G	2: 26,440,239 (GRCm38)	I588T	probably damaging	Het
Shank2	C	A	7: 144,409,540 (GRCm38)	S295Y	probably damaging	Het
Slc15a3	T	C	19: 10,857,299 (GRCm38)	S515P	probably damaging	Het
Slc25a13	A	T	6: 6,114,017 (GRCm38)	M285K	probably benign	Het
Slc39a11	A	G	11: 113,463,974 (GRCm38)	I143T	probably null	Het
Smarcd2	A	T	11: 106,265,307 (GRCm38)	L42*	probably null	Het
Smc3	A	G	19: 53,631,533 (GRCm38)	D620G	probably benign	Het
Syt10	C	T	15: 89,790,776 (GRCm38)	D456N	probably damaging	Het
Taar4	A	C	10: 23,961,173 (GRCm38)	Q227P	probably benign	Het
Tecta	G	T	9: 42,337,279 (GRCm38)	Y1937*	probably null	Het
Tex10	C	T	4: 48,456,800 (GRCm38)	R637Q	probably benign	Het
Tmem130	T	A	5: 144,755,274 (GRCm38)	T107S	possibly damaging	Het
Tmem132d	T	C	5: 128,269,131 (GRCm38)	D109G	probably damaging	Het
Tmem81	A	G	1: 132,507,906 (GRCm38)	Y150C	probably damaging	Het
Trim43a	A	G	9: 88,586,094 (GRCm38)	K256R	possibly damaging	Het
Trpm6	A	G	19: 18,877,739 (GRCm38)	T1921A	probably damaging	Het
Tubb3	C	T	8: 123,421,270 (GRCm38)	A314V	probably damaging	Het
Ube3b	A	C	5: 114,415,255 (GRCm38)	N896T	probably benign	Het
Unc80	G	A	1: 66,679,744 (GRCm38)		probably null	Het
Upb1	A	G	10: 75,424,513 (GRCm38)	T134A	probably damaging	Het
Vmn2r15	A	T	5: 109,286,753 (GRCm38)	M695K	possibly damaging	Het
Wwc1	G	T	11: 35,889,353 (GRCm38)	D258E	possibly damaging	Het
Zfp619	T	A	7: 39,534,761 (GRCm38)	Y72N	probably benign	Het
Zfp672	G	T	11: 58,316,636 (GRCm38)	H286Q	possibly damaging	Het

Other mutations in Tnrc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tnrc18	APN	5	142,763,037 (GRCm38)	missense	unknown
IGL01732:Tnrc18	APN	5	142,772,061 (GRCm38)	missense	unknown
IGL01796:Tnrc18	APN	5	142,764,887 (GRCm38)	missense	possibly damaging	0.88
IGL01868:Tnrc18	APN	5	142,771,812 (GRCm38)	missense	unknown
IGL02010:Tnrc18	APN	5	142,787,294 (GRCm38)	missense	unknown
IGL02566:Tnrc18	APN	5	142,772,313 (GRCm38)	splice site	probably benign
IGL02688:Tnrc18	APN	5	142,790,172 (GRCm38)	missense	probably damaging	0.96
IGL03052:Tnrc18	UTSW	5	142,775,219 (GRCm38)	missense	unknown
R0129:Tnrc18	UTSW	5	142,765,045 (GRCm38)	splice site	probably benign
R0617:Tnrc18	UTSW	5	142,776,739 (GRCm38)	missense	unknown
R0894:Tnrc18	UTSW	5	142,815,114 (GRCm38)	missense	probably benign	0.37
R1056:Tnrc18	UTSW	5	142,773,859 (GRCm38)	nonsense	probably null
R1084:Tnrc18	UTSW	5	142,764,767 (GRCm38)	critical splice donor site	probably null
R1131:Tnrc18	UTSW	5	142,787,208 (GRCm38)	missense	unknown
R1411:Tnrc18	UTSW	5	142,765,947 (GRCm38)	missense	unknown
R1443:Tnrc18	UTSW	5	142,771,533 (GRCm38)	missense	unknown
R1681:Tnrc18	UTSW	5	142,773,817 (GRCm38)	missense	unknown
R1698:Tnrc18	UTSW	5	142,788,703 (GRCm38)	missense	possibly damaging	0.83
R1795:Tnrc18	UTSW	5	142,815,114 (GRCm38)	missense	probably benign	0.37
R1903:Tnrc18	UTSW	5	142,815,140 (GRCm38)	missense	probably damaging	0.99
R1930:Tnrc18	UTSW	5	142,776,324 (GRCm38)	missense	unknown
R1931:Tnrc18	UTSW	5	142,776,324 (GRCm38)	missense	unknown
R1941:Tnrc18	UTSW	5	142,815,150 (GRCm38)	missense	probably damaging	1.00
R2069:Tnrc18	UTSW	5	142,766,087 (GRCm38)	missense	unknown
R2089:Tnrc18	UTSW	5	142,773,641 (GRCm38)	missense	unknown
R2091:Tnrc18	UTSW	5	142,773,641 (GRCm38)	missense	unknown
R2091:Tnrc18	UTSW	5	142,773,641 (GRCm38)	missense	unknown
R2182:Tnrc18	UTSW	5	142,760,061 (GRCm38)	missense	unknown
R2190:Tnrc18	UTSW	5	142,775,889 (GRCm38)	missense	unknown
R2310:Tnrc18	UTSW	5	142,788,553 (GRCm38)	missense	probably damaging	0.96
R2372:Tnrc18	UTSW	5	142,759,704 (GRCm38)	splice site	probably benign
R2445:Tnrc18	UTSW	5	142,772,115 (GRCm38)	missense	unknown
R3806:Tnrc18	UTSW	5	142,787,274 (GRCm38)	missense	unknown
R4097:Tnrc18	UTSW	5	142,773,806 (GRCm38)	small deletion	probably benign
R4153:Tnrc18	UTSW	5	142,765,992 (GRCm38)	missense	possibly damaging	0.89
R4274:Tnrc18	UTSW	5	142,743,650 (GRCm38)	missense	unknown
R4520:Tnrc18	UTSW	5	142,732,150 (GRCm38)	missense	unknown
R4627:Tnrc18	UTSW	5	142,740,128 (GRCm38)	missense	unknown
R4852:Tnrc18	UTSW	5	142,731,340 (GRCm38)	missense	probably damaging	0.98
R4873:Tnrc18	UTSW	5	142,765,177 (GRCm38)	missense	unknown
R4875:Tnrc18	UTSW	5	142,765,177 (GRCm38)	missense	unknown
R4876:Tnrc18	UTSW	5	142,731,625 (GRCm38)	missense	unknown
R4936:Tnrc18	UTSW	5	142,765,977 (GRCm38)	nonsense	probably null
R4942:Tnrc18	UTSW	5	142,787,982 (GRCm38)	missense	unknown
R4962:Tnrc18	UTSW	5	142,739,493 (GRCm38)	missense	unknown
R5373:Tnrc18	UTSW	5	142,740,156 (GRCm38)	missense	unknown
R5374:Tnrc18	UTSW	5	142,740,156 (GRCm38)	missense	unknown
R5454:Tnrc18	UTSW	5	142,771,691 (GRCm38)	missense	unknown
R5678:Tnrc18	UTSW	5	142,733,564 (GRCm38)	missense	unknown
R5826:Tnrc18	UTSW	5	142,773,747 (GRCm38)	missense	unknown
R5891:Tnrc18	UTSW	5	142,815,171 (GRCm38)	missense	probably damaging	0.99
R6195:Tnrc18	UTSW	5	142,765,173 (GRCm38)	missense	unknown
R6296:Tnrc18	UTSW	5	142,733,576 (GRCm38)	missense	unknown
R6358:Tnrc18	UTSW	5	142,727,981 (GRCm38)	missense	probably damaging	0.99
R6452:Tnrc18	UTSW	5	142,727,012 (GRCm38)	missense	probably damaging	1.00
R6498:Tnrc18	UTSW	5	142,732,168 (GRCm38)	missense	unknown
R6711:Tnrc18	UTSW	5	142,787,790 (GRCm38)	missense	unknown
R6782:Tnrc18	UTSW	5	142,787,308 (GRCm38)	missense	unknown
R6863:Tnrc18	UTSW	5	142,815,197 (GRCm38)	missense	probably damaging	1.00
R6894:Tnrc18	UTSW	5	142,760,049 (GRCm38)	missense	unknown
R6970:Tnrc18	UTSW	5	142,727,989 (GRCm38)	missense	probably damaging	0.99
R7053:Tnrc18	UTSW	5	142,787,229 (GRCm38)	missense	unknown
R7135:Tnrc18	UTSW	5	142,787,817 (GRCm38)	missense
R7756:Tnrc18	UTSW	5	142,787,152 (GRCm38)	missense
R7902:Tnrc18	UTSW	5	142,772,147 (GRCm38)	missense
R8039:Tnrc18	UTSW	5	142,732,052 (GRCm38)	missense	unknown
R8053:Tnrc18	UTSW	5	142,750,630 (GRCm38)	missense	unknown
R8322:Tnrc18	UTSW	5	142,726,012 (GRCm38)	missense	probably damaging	1.00
R8379:Tnrc18	UTSW	5	142,788,402 (GRCm38)	missense
R8745:Tnrc18	UTSW	5	142,787,447 (GRCm38)	missense
R8837:Tnrc18	UTSW	5	142,793,056 (GRCm38)	missense	possibly damaging	0.94
R8894:Tnrc18	UTSW	5	142,739,457 (GRCm38)	missense	unknown
R8909:Tnrc18	UTSW	5	142,776,376 (GRCm38)	missense
R9030:Tnrc18	UTSW	5	142,726,063 (GRCm38)	missense	probably damaging	1.00
R9186:Tnrc18	UTSW	5	142,787,733 (GRCm38)	missense
R9189:Tnrc18	UTSW	5	142,731,352 (GRCm38)	missense	probably damaging	1.00
R9192:Tnrc18	UTSW	5	142,787,847 (GRCm38)	missense
R9227:Tnrc18	UTSW	5	142,787,637 (GRCm38)	missense
R9230:Tnrc18	UTSW	5	142,787,637 (GRCm38)	missense
R9582:Tnrc18	UTSW	5	142,771,373 (GRCm38)	missense
RF022:Tnrc18	UTSW	5	142,773,630 (GRCm38)	missense
Z1177:Tnrc18	UTSW	5	142,773,888 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- CGATCACCAATCTGTCCAGC -3'
(R):5'- TGTGGCAGGTTCTTGACACAG -3'

Sequencing Primer
(F):5'- ATCTGTCCAGCAATACATCTGC -3'
(R):5'- GGTTCTTGACACAGTATGACAGCC -3'

Posted On

2014-09-17