Mutagenetix > Incidental Mutation

Incidental Mutation 'R9230:Tnrc18'

700164

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.763) question?

Stock #

R9230 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 142787637 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 479 (A479D)

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: A479D

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: A296D

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: A296D

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

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb1	A	T	10: 77,321,792	F274I	probably damaging	Het
Aen	T	A	7: 78,902,359	D22E	probably damaging	Het
Appl1	T	C	14: 26,923,735	E706G	unknown	Het
Arhgap21	T	C	2: 20,855,658	T1313A	possibly damaging	Het
Armc2	T	C	10: 41,947,939	Y511C	probably damaging	Het
BC027072	A	G	17: 71,750,222	L820P	probably damaging	Het
Bsn	T	C	9: 108,112,260	T2098A	probably damaging	Het
Cacna1h	T	C	17: 25,380,882	Y1659C	probably damaging	Het
Catsperb	T	C	12: 101,549,794	I563T	probably benign	Het
Cd180	TA	TAA	13: 102,705,006		probably null	Het
Cd55b	A	T	1: 130,422,882	L26*	probably null	Het
Cdc42bpa	A	G	1: 180,106,073	N759S	probably benign	Het
Chrm3	C	A	13: 9,878,443	V186L	probably benign	Het
Clrn2	A	G	5: 45,463,941	T226A	probably damaging	Het
Col3a1	C	T	1: 45,343,978	P1071S	unknown	Het
Csgalnact2	A	G	6: 118,126,251	L250P	probably damaging	Het
Cyp4a31	G	T	4: 115,571,084	E326*	probably null	Het
Def8	A	G	8: 123,459,578	E352G	probably benign	Het
Dmbt1	A	G	7: 131,037,912	D60G	probably benign	Het
Dock3	A	G	9: 106,930,024	L1368P	probably damaging	Het
Dytn	A	T	1: 63,647,452	V353D	probably benign	Het
Egfem1	G	A	3: 29,357,168	E155K	probably benign	Het
Eif3m	A	T	2: 105,001,360	M285K	probably damaging	Het
Fam135b	T	C	15: 71,464,007	K446R	probably benign	Het
Fam196a	A	T	7: 134,918,710	Y30*	probably null	Het
Fbxo22	T	C	9: 55,209,158	L36P	probably damaging	Het
Frmd4a	T	C	2: 4,608,033	S1025P	possibly damaging	Het
Gif	G	A	19: 11,760,384	W386*	probably null	Het
Gja8	C	T	3: 96,919,348	V333M	possibly damaging	Het
Glis1	T	C	4: 107,568,130	S313P	probably benign	Het
Gm11487	C	T	4: 73,401,448	A264T	probably benign	Het
Gm3376	T	G	Y: 3,774,819	D5E	probably damaging	Het
Grid2ip	G	A	5: 143,373,439	R270Q	probably damaging	Het
Hps4	G	A	5: 112,378,039	S642N	possibly damaging	Het
Hspa4	T	C	11: 53,280,639	E246G	probably benign	Het
Ibtk	A	G	9: 85,703,649		probably null	Het
Ifit1	A	G	19: 34,647,836	E124G	possibly damaging	Het
Ifna14	T	C	4: 88,571,515	D95G	probably benign	Het
Igsf10	G	A	3: 59,336,422	R164W	probably damaging	Het
Ilkap	A	C	1: 91,387,215	I142S	probably benign	Het
Kctd14	C	G	7: 97,454,897	P53R	unknown	Het
Kndc1	A	T	7: 139,920,684	D655V	probably damaging	Het
Krt2	A	C	15: 101,817,513	S197A	probably benign	Het
Lpin1	A	T	12: 16,538,482	S902R	unknown	Het
Mapk13	T	C	17: 28,775,558	I141T	probably damaging	Het
Micall2	A	G	5: 139,716,072	V472A	unknown	Het
Mmp15	T	C	8: 95,366,331	F113L	probably benign	Het
Msh2	T	G	17: 87,719,289	S738A	probably benign	Het
Muc20	T	G	16: 32,793,214	T598P	probably damaging	Het
Myo1f	T	C	17: 33,576,450	V53A	probably damaging	Het
Ncf1	A	T	5: 134,221,864	N367K	probably benign	Het
Nme8	T	G	13: 19,690,214	I139L	probably benign	Het
Odam	T	C	5: 87,886,598	F46L	probably benign	Het
Olfr559	C	A	7: 102,723,588	V301F	possibly damaging	Het
Olfr8	G	A	10: 78,956,095	D297N	possibly damaging	Het
Pi4ka	A	G	16: 17,281,924	I1945T		Het
Rell1	T	C	5: 63,939,762		probably benign	Het
Ripk3	A	G	14: 55,785,846	F134S	probably benign	Het
Sclt1	A	T	3: 41,711,196	W146R	probably benign	Het
Slc18a2	T	C	19: 59,273,215	M178T	probably benign	Het
Slc24a5	G	T	2: 125,080,648	G110V	probably damaging	Het
Slc38a10	T	A	11: 120,105,955	D772V	probably benign	Het
Slc9c1	T	C	16: 45,577,912	L680P	possibly damaging	Het
Tll2	T	A	19: 41,104,997	Y477F	probably benign	Het
Tmco1	C	T	1: 167,308,563		probably benign	Het
Topaz1	T	A	9: 122,767,032	M956K	probably benign	Het
Vmn2r56	T	A	7: 12,710,310	D465V	possibly damaging	Het
Xndc1	T	A	7: 102,073,269	V47E	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
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
R9582:Tnrc18	UTSW	5	142771373	missense
RF022:Tnrc18	UTSW	5	142773630	missense
Z1177:Tnrc18	UTSW	5	142773888	missense

Predicted Primers

PCR Primer
(F):5'- AAAGGGGCTCTTCTTCCCAC -3'
(R):5'- AGGAACTACTCAAGCCCGAG -3'

Sequencing Primer
(F):5'- TTCTTCCCACAGCCACCAGG -3'
(R):5'- AGGCTGATCCGAGGCCTTG -3'

Posted On

2022-02-07