Mutagenetix > Incidental Mutation

Incidental Mutation 'R1681:Tnrc18'

188496

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

Zfp469, EG381742

MMRRC Submission

039717-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.786) question?

Stock #

R1681 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

142724661-142817662 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142773817 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 755 (K755E)

Ref Sequence

ENSEMBL: ENSMUSP00000117651 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000151477
AA Change: K937E

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: K937E

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: K755E

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: K755E

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: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,226,185	I247N	probably damaging	Het
Ankle1	G	T	8: 71,407,618	S260I	probably benign	Het
Aoc2	T	C	11: 101,325,192	S34P	probably benign	Het
Ap1m1	A	C	8: 72,256,122	I397L	possibly damaging	Het
Apba1	C	A	19: 23,936,561	D649E	probably damaging	Het
Aptx	C	T	4: 40,697,274	V25M	probably benign	Het
Arhgef18	G	A	8: 3,439,645	G326R	probably damaging	Het
Atm	A	C	9: 53,522,155	I265S	possibly damaging	Het
B3galt4	A	T	17: 33,951,213	V17E	probably benign	Het
Bcl7a	T	A	5: 123,356,023	M86K	possibly damaging	Het
Cela3a	T	A	4: 137,402,684		probably null	Het
Cep85	T	A	4: 134,148,728	K456*	probably null	Het
Ces1f	C	A	8: 93,275,414	A29S	probably benign	Het
Chd9	A	T	8: 90,973,135	I598F	probably damaging	Het
Cntln	T	C	4: 84,947,635	L176S	probably damaging	Het
Cntn3	A	T	6: 102,170,668	N909K	probably damaging	Het
Cntnap5b	T	C	1: 100,076,107	S271P	probably damaging	Het
Col6a3	T	A	1: 90,773,502	H2564L	unknown	Het
Cyp2b19	C	A	7: 26,763,340		probably null	Het
Dapk1	G	T	13: 60,718,464		probably null	Het
Dnah7b	T	A	1: 46,324,712	Y3497*	probably null	Het
Duoxa2	T	C	2: 122,299,162		probably null	Het
Eny2	T	C	15: 44,432,478	W42R	probably damaging	Het
Epha3	A	G	16: 63,595,728	V635A	probably damaging	Het
Fam167b	G	C	4: 129,578,276	Q34E	probably benign	Het
Fam26f	A	G	10: 34,127,900	F4L	probably benign	Het
Fancm	T	C	12: 65,105,656	M962T	probably benign	Het
Gimap8	T	A	6: 48,656,411	I388N	probably benign	Het
Gpaa1	A	G	15: 76,331,453	T22A	probably benign	Het
Hoxc11	T	C	15: 102,955,156	S211P	possibly damaging	Het
Hsd17b12	T	C	2: 94,033,561	N312S	unknown	Het
Idh2	T	G	7: 80,099,158	E125A	probably damaging	Het
Igdcc4	A	G	9: 65,128,795	Y712C	probably damaging	Het
Kank1	T	C	19: 25,410,304	V447A	possibly damaging	Het
Kif1b	T	A	4: 149,195,501		probably null	Het
Klc4	A	T	17: 46,636,770	D335E	probably damaging	Het
Klhl33	T	A	14: 50,893,077	D320V	probably benign	Het
Krt73	A	T	15: 101,802,047	M84K	possibly damaging	Het
Kti12	T	A	4: 108,848,858	I323N	probably damaging	Het
Kynu	T	C	2: 43,679,825	L373P	probably damaging	Het
Lats1	T	C	10: 7,705,914	M821T	probably damaging	Het
Lnx1	A	T	5: 74,685,410	H126Q	probably benign	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Lrrc4b	T	A	7: 44,461,177	Y158N	probably damaging	Het
Lrrc74b	C	A	16: 17,559,753	R87L	probably damaging	Het
Meig1	T	C	2: 3,409,274	D63G	probably damaging	Het
Mrpl38	G	A	11: 116,138,429		probably benign	Het
Naip2	T	C	13: 100,161,854	E558G	probably benign	Het
Naip2	C	T	13: 100,161,860	G556D	probably benign	Het
Nlrp1a	T	A	11: 71,142,358	E3D	unknown	Het
Nphs2	T	A	1: 156,320,898	D110E	probably damaging	Het
Nxn	T	A	11: 76,272,464	K244N	probably benign	Het
Oas3	A	T	5: 120,769,908	F322L	probably benign	Het
Obscn	T	A	11: 59,103,325	Y1577F	probably damaging	Het
Olfr1122	G	A	2: 87,388,620	R305K	possibly damaging	Het
Olfr911-ps1	T	A	9: 38,524,117	N128K	probably benign	Het
Olfr914	G	A	9: 38,606,948	G161D	probably damaging	Het
Olfr917	A	G	9: 38,665,320	Y175H	probably benign	Het
Olfr924	T	C	9: 38,848,513	M133T	probably damaging	Het
Panx1	T	C	9: 15,007,783	D260G	probably benign	Het
Pcdhb15	T	C	18: 37,473,813	Y33H	probably damaging	Het
Pik3ap1	C	A	19: 41,308,529	V461F	probably damaging	Het
Plpp3	G	A	4: 105,208,805		probably null	Het
Prtn3	A	T	10: 79,880,541	T61S	probably benign	Het
Psen1	T	A	12: 83,724,620	Y225N	probably damaging	Het
Rab44	T	A	17: 29,140,124	S429T	possibly damaging	Het
Ralgapa1	T	C	12: 55,762,603	I462M	probably benign	Het
Rbfox3	T	C	11: 118,505,669	N105S	probably damaging	Het
Rbm7	A	C	9: 48,489,721	Y236D	possibly damaging	Het
Samhd1	T	C	2: 157,101,732	T621A	probably benign	Het
Samt3	C	A	X: 86,046,650	D49E	probably benign	Het
Sass6	T	C	3: 116,603,473	V26A	possibly damaging	Het
Scn11a	C	T	9: 119,804,412	M418I	possibly damaging	Het
Scrib	T	C	15: 76,064,567	E480G	probably damaging	Het
Sec24a	T	G	11: 51,695,189	T1071P	probably damaging	Het
Siglecg	A	C	7: 43,408,941	E84A	probably benign	Het
Slc6a17	C	T	3: 107,474,386	V419I	probably damaging	Het
Soga1	T	C	2: 157,030,530	T966A	possibly damaging	Het
Ssr2	T	C	3: 88,581,042	M75T	possibly damaging	Het
Tbc1d22b	A	G	17: 29,575,177	T275A	possibly damaging	Het
Tbx15	T	A	3: 99,351,824		probably null	Het
Tll1	A	C	8: 64,085,551	L353R	possibly damaging	Het
Tlr4	C	T	4: 66,841,105	P712S	probably damaging	Het
Tmem145	T	A	7: 25,314,734	F424L	possibly damaging	Het
Trmt44	A	G	5: 35,569,977	I298T	probably benign	Het
Vmn1r69	A	G	7: 10,580,252	V184A	probably benign	Het
Zfp84	T	C	7: 29,777,400	C506R	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
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

Predicted Primers

PCR Primer
(F):5'- TACATTCCCACCTGTGAACAGGGC -3'
(R):5'- TTCCTCAGCAGGAGCGGTTGAAAG -3'

Sequencing Primer
(F):5'- TGTGAACAGGGCCTGGAAC -3'
(R):5'- CGGTTGAAAGCACAAGAGCATC -3'

Posted On

2014-05-09