Mutagenetix > Incidental Mutation

Incidental Mutation 'RF022:Tnrc18'

603933

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

RF022 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142773630 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 999 (A999V)

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: A999V

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: A817V

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: A817V

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: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	GTACT	GTACTACT	12: 110,668,443		probably null	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096		probably benign	Het
Adam6b	A	T	12: 113,491,669	E702V	possibly damaging	Het
Arpc3	A	G	5: 122,400,426	T7A	probably benign	Het
Bcl3	G	A	7: 19,809,041	P393L	probably damaging	Het
Ceacam9	A	G	7: 16,725,379	D201G	possibly damaging	Het
Chga	AGC	AGCCGC	12: 102,561,420		probably benign	Het
Clgn	A	G	8: 83,425,606	K579R	probably damaging	Het
Cntnap2	C	T	6: 47,021,665	R884W	probably damaging	Het
Col6a4	A	T	9: 106,077,008	D377E	probably damaging	Het
Cort	GCCCACTCGT	G	4: 149,125,412		probably benign	Het
D5Ertd579e	A	C	5: 36,614,662	I796M	probably damaging	Het
Dmkn	GGTGGAAGTGGTGGAAG	GGTGGAAGTGGTGGAAGAGGTGGAAGTCGTGGAAGTGGTGGAAG	7: 30,767,175		probably benign	Het
Dpagt1	G	T	9: 44,331,965	V266L	possibly damaging	Het
Ebf3	C	A	7: 137,313,942		probably benign	Het
Exd2	AGCAGCCGCAGCC	AGCAGCC	12: 80,475,917		probably benign	Het
Flywch1	CACTCCTGGTGT	CACTCCTGGTGTGGGGAGGCTACGTACTCACCAACTCCTGGTGT	17: 23,762,167		probably null	Het
Gab3	CTT	CTTATT	X: 74,999,994		probably null	Het
Golga4	A	G	9: 118,557,989	D1393G	probably damaging	Het
Gpc5	G	A	14: 115,552,276	V521I	probably damaging	Het
Grik1	A	T	16: 87,896,337	N859K		Het
Insrr	G	A	3: 87,804,485	A511T	possibly damaging	Het
Isx	A	G	8: 74,873,846	D69G	probably damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Lkaaear1	CAGCTCCAG	CAGCTCCAGGTCGAGCTCCAG	2: 181,697,577		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Magel2	A	G	7: 62,380,093	E915G	unknown	Het
Maml3	A	G	3: 51,856,662	S294P	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820		probably benign	Het
Mef2d	A	T	3: 88,168,267	T486S	probably benign	Het
Ms4a8a	A	G	19: 11,076,325	V139A	possibly damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr372	T	G	8: 72,058,624	*315G	probably null	Het
Pdik1l	GTTTTTGTTTT	GTTTTTGTTTTTTTTTTGTTTT	4: 134,279,367		probably null	Het
Pnmal1	TCATGATGCACCTGCTTCAACATC	TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC	7: 16,961,427		probably benign	Het
Ppfibp2	T	C	7: 107,697,610	L177P	probably damaging	Het
Ppp1r13l	ACAGGCACCCTGCTCCGGC	AC	7: 19,368,542		probably benign	Het
Ptprh	A	G	7: 4,549,368	F966L	probably benign	Het
Rad17	A	G	13: 100,637,085	L132S	probably damaging	Het
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,759,143		probably null	Het
Rwdd2b	C	T	16: 87,436,670	A181T	probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTTCCTGT	11: 32,423,054		probably benign	Het
Six3	CGG	CGGTGG	17: 85,621,356		probably benign	Het
Sla	C	T	15: 66,782,744	G231D	probably benign	Het
Tcof1	CAG	CAGTAG	18: 60,835,735		probably benign	Het
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Tgm5	T	A	2: 121,071,611	E192D	probably damaging	Het
Tmem123	A	G	9: 7,791,413	Y171C	probably damaging	Het
Triobp	C	T	15: 78,974,282	P1361L	probably benign	Het
Ubac1	A	T	2: 26,005,458	W328R	probably damaging	Het
Ube2q1	A	G	3: 89,780,893	N324S	probably benign	Het
Zcchc2	T	C	1: 106,011,742	I407T	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGCCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het

Other mutations in Tnrc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tnrc18	APN	5	142763037	missense	unknown
IGL01732:Tnrc18	APN	5	142772061	missense	unknown
IGL01796:Tnrc18	APN	5	142764887	missense	possibly damaging	0.88
IGL01868:Tnrc18	APN	5	142771812	missense	unknown
IGL02010:Tnrc18	APN	5	142787294	missense	unknown
IGL02566:Tnrc18	APN	5	142772313	splice site	probably benign
IGL02688:Tnrc18	APN	5	142790172	missense	probably damaging	0.96
IGL03052:Tnrc18	UTSW	5	142775219	missense	unknown
R0129:Tnrc18	UTSW	5	142765045	splice site	probably benign
R0617:Tnrc18	UTSW	5	142776739	missense	unknown
R0894:Tnrc18	UTSW	5	142815114	missense	probably benign	0.37
R1056:Tnrc18	UTSW	5	142773859	nonsense	probably null
R1084:Tnrc18	UTSW	5	142764767	critical splice donor site	probably null
R1131:Tnrc18	UTSW	5	142787208	missense	unknown
R1411:Tnrc18	UTSW	5	142765947	missense	unknown
R1443:Tnrc18	UTSW	5	142771533	missense	unknown
R1681:Tnrc18	UTSW	5	142773817	missense	unknown
R1698:Tnrc18	UTSW	5	142788703	missense	possibly damaging	0.83
R1795:Tnrc18	UTSW	5	142815114	missense	probably benign	0.37
R1903:Tnrc18	UTSW	5	142815140	missense	probably damaging	0.99
R1930:Tnrc18	UTSW	5	142776324	missense	unknown
R1931:Tnrc18	UTSW	5	142776324	missense	unknown
R1941:Tnrc18	UTSW	5	142815150	missense	probably damaging	1.00
R2069:Tnrc18	UTSW	5	142766087	missense	unknown
R2074:Tnrc18	UTSW	5	142759706	splice site	probably null
R2089:Tnrc18	UTSW	5	142773641	missense	unknown
R2091:Tnrc18	UTSW	5	142773641	missense	unknown
R2091:Tnrc18	UTSW	5	142773641	missense	unknown
R2182:Tnrc18	UTSW	5	142760061	missense	unknown
R2190:Tnrc18	UTSW	5	142775889	missense	unknown
R2310:Tnrc18	UTSW	5	142788553	missense	probably damaging	0.96
R2372:Tnrc18	UTSW	5	142759704	splice site	probably benign
R2445:Tnrc18	UTSW	5	142772115	missense	unknown
R3806:Tnrc18	UTSW	5	142787274	missense	unknown
R4097:Tnrc18	UTSW	5	142773806	small deletion	probably benign
R4153:Tnrc18	UTSW	5	142765992	missense	possibly damaging	0.89
R4274:Tnrc18	UTSW	5	142743650	missense	unknown
R4520:Tnrc18	UTSW	5	142732150	missense	unknown
R4627:Tnrc18	UTSW	5	142740128	missense	unknown
R4852:Tnrc18	UTSW	5	142731340	missense	probably damaging	0.98
R4873:Tnrc18	UTSW	5	142765177	missense	unknown
R4875:Tnrc18	UTSW	5	142765177	missense	unknown
R4876:Tnrc18	UTSW	5	142731625	missense	unknown
R4936:Tnrc18	UTSW	5	142765977	nonsense	probably null
R4942:Tnrc18	UTSW	5	142787982	missense	unknown
R4962:Tnrc18	UTSW	5	142739493	missense	unknown
R5373:Tnrc18	UTSW	5	142740156	missense	unknown
R5374:Tnrc18	UTSW	5	142740156	missense	unknown
R5454:Tnrc18	UTSW	5	142771691	missense	unknown
R5678:Tnrc18	UTSW	5	142733564	missense	unknown
R5826:Tnrc18	UTSW	5	142773747	missense	unknown
R5891:Tnrc18	UTSW	5	142815171	missense	probably damaging	0.99
R6195:Tnrc18	UTSW	5	142765173	missense	unknown
R6296:Tnrc18	UTSW	5	142733576	missense	unknown
R6358:Tnrc18	UTSW	5	142727981	missense	probably damaging	0.99
R6452:Tnrc18	UTSW	5	142727012	missense	probably damaging	1.00
R6498:Tnrc18	UTSW	5	142732168	missense	unknown
R6711:Tnrc18	UTSW	5	142787790	missense	unknown
R6782:Tnrc18	UTSW	5	142787308	missense	unknown
R6863:Tnrc18	UTSW	5	142815197	missense	probably damaging	1.00
R6894:Tnrc18	UTSW	5	142760049	missense	unknown
R6970:Tnrc18	UTSW	5	142727989	missense	probably damaging	0.99
R7053:Tnrc18	UTSW	5	142787229	missense	unknown
R7135:Tnrc18	UTSW	5	142787817	missense
R7756:Tnrc18	UTSW	5	142787152	missense
R7902:Tnrc18	UTSW	5	142772147	missense
R8039:Tnrc18	UTSW	5	142732052	missense	unknown
R8053:Tnrc18	UTSW	5	142750630	missense	unknown
R8322:Tnrc18	UTSW	5	142726012	missense	probably damaging	1.00
R8379:Tnrc18	UTSW	5	142788402	missense
R8745:Tnrc18	UTSW	5	142787447	missense
R8837:Tnrc18	UTSW	5	142793056	missense	possibly damaging	0.94
R8894:Tnrc18	UTSW	5	142739457	missense	unknown
R8909:Tnrc18	UTSW	5	142776376	missense
R9030:Tnrc18	UTSW	5	142726063	missense	probably damaging	1.00
R9186:Tnrc18	UTSW	5	142787733	missense
R9189:Tnrc18	UTSW	5	142731352	missense	probably damaging	1.00
R9192:Tnrc18	UTSW	5	142787847	missense
R9227:Tnrc18	UTSW	5	142787637	missense
R9230:Tnrc18	UTSW	5	142787637	missense
R9582:Tnrc18	UTSW	5	142771373	missense
Z1177:Tnrc18	UTSW	5	142773888	missense

Predicted Primers

PCR Primer
(F):5'- AGTGGGCTCTACAGAGTACTCAG -3'
(R):5'- GGTGGAAGATGTGTCTAAGCC -3'

Sequencing Primer
(F):5'- GCTCTACAGAGTACTCAGCAAAAAGG -3'
(R):5'- GAAGATGTGTCTAAGCCTCCAGC -3'

Posted On

2019-12-04