Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01796:Tnrc18'

155370

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01796

Quality Score

Status

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 142764887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 1444 (E1444K)

Ref Sequence

ENSEMBL: ENSMUSP00000114769 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000151477
AA Change: E1444K

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: E1444K

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 benign
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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,513,209	Y511H	probably damaging	Het
Abca7	T	G	10: 80,013,909	Y1948D	probably damaging	Het
Adgrl2	C	A	3: 148,858,975	G319V	probably damaging	Het
Adgrv1	T	A	13: 81,567,342	D909V	probably benign	Het
Anapc16	T	C	10: 59,988,757	E119G	possibly damaging	Het
C1qtnf12	T	C	4: 155,966,429	V285A	possibly damaging	Het
Cbr1	A	C	16: 93,608,231	N89T	probably damaging	Het
Cdh23	T	A	10: 60,311,137	Q2778L	probably benign	Het
Clca4c-ps	A	G	3: 144,889,579		noncoding transcript	Het
Cst9	T	C	2: 148,835,349	F47L	probably damaging	Het
Dqx1	T	C	6: 83,066,427		probably benign	Het
Dus4l	T	C	12: 31,642,795	S150G	probably benign	Het
E2f2	A	T	4: 136,180,417	K142*	probably null	Het
Eif2ak4	T	A	2: 118,446,304	H169Q	probably benign	Het
Fmo9	C	T	1: 166,663,335	A525T	probably benign	Het
Gm42878	T	C	5: 121,545,184	D6G	probably benign	Het
Igfals	A	G	17: 24,880,082	Y49C	probably damaging	Het
Iltifb	T	C	10: 118,290,164	N176S	possibly damaging	Het
Ipo7	T	C	7: 110,029,848		probably benign	Het
Itga1	T	C	13: 114,985,121	E784G	probably damaging	Het
Jcad	G	T	18: 4,672,855	E206*	probably null	Het
Kif24	A	T	4: 41,392,978		probably benign	Het
Lrrc2	T	A	9: 110,980,818		probably null	Het
Ltbp1	A	G	17: 75,227,245		probably benign	Het
Man2c1	C	T	9: 57,137,960	T451I	possibly damaging	Het
Manba	T	A	3: 135,542,389	N346K	probably damaging	Het
Nell1	T	C	7: 50,176,216		probably benign	Het
Nfat5	T	C	8: 107,367,641	V744A	probably damaging	Het
Nms	T	C	1: 38,946,111	M98T	possibly damaging	Het
Nos1	A	T	5: 117,938,274	K1120*	probably null	Het
Olfr741	C	A	14: 50,485,541	Q28K	probably benign	Het
Plekho1	C	T	3: 95,990,835	R172H	probably damaging	Het
Pot1b	A	T	17: 55,669,750	C391S	possibly damaging	Het
Scn1a	G	A	2: 66,332,301		probably benign	Het
Sgce	T	G	6: 4,711,326	N149H	probably damaging	Het
Slc45a1	A	G	4: 150,643,969	W126R	probably damaging	Het
Slc9a1	G	A	4: 133,420,093		probably benign	Het
Tmem131l	T	A	3: 83,938,055	K423*	probably null	Het
Tpp1	T	C	7: 105,747,650		probably benign	Het
Trip12	A	C	1: 84,728,278	S610R	probably benign	Het
Ushbp1	G	T	8: 71,387,432	A525E	probably benign	Het
Vmn2r106	A	T	17: 20,268,052	M695K	possibly damaging	Het
Vmn2r118	A	G	17: 55,608,585	I455T	probably benign	Het
Zbtb41	T	C	1: 139,442,883	F686S	probably damaging	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
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
RF022:Tnrc18	UTSW	5	142773630	missense
Z1177:Tnrc18	UTSW	5	142773888	missense

Posted On

2014-02-04