Mutagenetix > Incidental Mutation

Incidental Mutation 'R1056:Tnrc18'

94357

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

039146-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R1056 (G1)

Quality Score

222

Status

Not validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 142759614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 741 (R741*)

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: ENSMUST00000151477
AA Change: R923*

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: R923*

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
AA Change: R741*

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: R741*

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: 99.1%
3x: 98.2%
10x: 96.1%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,924,295 (GRCm39)	Y1649C	probably damaging	Het
Abcc10	A	C	17: 46,614,880 (GRCm39)	C1459W	possibly damaging	Het
Amfr	A	T	8: 94,712,097 (GRCm39)	F278I	probably benign	Het
Anks1b	G	T	10: 90,757,291 (GRCm39)		probably null	Het
Bak1	A	G	17: 27,240,247 (GRCm39)	S147P	possibly damaging	Het
Bltp1	C	A	3: 37,037,602 (GRCm39)	H2469N	possibly damaging	Het
Bltp1	T	A	3: 37,098,829 (GRCm39)	M1152K	probably benign	Het
C7	T	C	15: 5,075,260 (GRCm39)	N144S	possibly damaging	Het
Casd1	T	C	6: 4,641,967 (GRCm39)	V748A	probably benign	Het
Ccdc168	C	T	1: 44,100,087 (GRCm39)	G337D	probably damaging	Het
Ccdc180	T	C	4: 45,916,375 (GRCm39)	S859P	probably benign	Het
Ccne2	T	C	4: 11,192,707 (GRCm39)	S2P	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,051 (GRCm39)	I541N	probably benign	Het
Cgnl1	T	A	9: 71,633,177 (GRCm39)	N58I	probably damaging	Het
Chd7	T	C	4: 8,822,402 (GRCm39)	S832P	possibly damaging	Het
Chl1	A	T	6: 103,652,038 (GRCm39)	Y318F	possibly damaging	Het
Coq2	G	T	5: 100,805,813 (GRCm39)	N274K	probably benign	Het
Crhr2	A	T	6: 55,077,720 (GRCm39)	V214E	probably damaging	Het
Dgkg	G	C	16: 22,419,291 (GRCm39)	P70A	probably damaging	Het
Dync2h1	T	C	9: 7,147,731 (GRCm39)	I966M	probably benign	Het
Eif5b	C	G	1: 38,061,248 (GRCm39)	R380G	unknown	Het
Fat4	T	A	3: 38,945,541 (GRCm39)	I1478N	probably damaging	Het
Impact	A	T	18: 13,109,581 (GRCm39)	I92L	probably benign	Het
Ly6c2	A	G	15: 74,983,445 (GRCm39)		probably null	Het
Lypd6b	G	A	2: 49,837,468 (GRCm39)	V147I	possibly damaging	Het
Mdga2	T	C	12: 66,769,894 (GRCm39)	D192G	probably damaging	Het
Mms22l	T	C	4: 24,586,344 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,739,484 (GRCm39)	T732I	possibly damaging	Het
Myrf	C	T	19: 10,200,850 (GRCm39)	M274I	probably benign	Het
Nfx1	G	A	4: 41,003,057 (GRCm39)	R686Q	probably damaging	Het
Ofcc1	C	T	13: 40,362,305 (GRCm39)	G206R	probably benign	Het
Oog4	T	C	4: 143,164,581 (GRCm39)	T245A	possibly damaging	Het
Or1a1b	C	T	11: 74,097,608 (GRCm39)	V145I	probably benign	Het
Or52e3	A	T	7: 102,869,625 (GRCm39)	E233D	probably benign	Het
Pclo	A	T	5: 14,590,069 (GRCm39)	K790*	probably null	Het
Pcm1	A	G	8: 41,774,937 (GRCm39)	E1668G	probably damaging	Het
Pkhd1l1	T	A	15: 44,455,360 (GRCm39)	N4040K	probably damaging	Het
Podnl1	T	A	8: 84,855,905 (GRCm39)	S222T	probably benign	Het
Ppil4	A	G	10: 7,675,396 (GRCm39)	T182A	possibly damaging	Het
Prdm13	T	C	4: 21,678,544 (GRCm39)	K649E	probably damaging	Het
Prob1	A	T	18: 35,786,663 (GRCm39)	H530Q	probably benign	Het
Rbbp4	A	T	4: 129,211,442 (GRCm39)	M404K	probably damaging	Het
Rilpl1	A	T	5: 124,631,900 (GRCm39)	F149I	probably damaging	Het
Sema6c	T	A	3: 95,078,527 (GRCm39)	S543T	probably benign	Het
Sh3rf3	G	T	10: 58,842,904 (GRCm39)	W290L	probably damaging	Het
Slc2a12	T	G	10: 22,541,350 (GRCm39)	S402A	probably benign	Het
Tas2r131	T	A	6: 132,934,030 (GRCm39)	I260F	possibly damaging	Het
Tasp1	A	G	2: 139,850,684 (GRCm39)	I113T	possibly damaging	Het
Ube2o	G	T	11: 116,437,290 (GRCm39)	D244E	probably damaging	Het
Vmn1r206	A	T	13: 22,804,784 (GRCm39)	M141K	probably benign	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp747	A	G	7: 126,973,760 (GRCm39)	S137P	probably benign	Het
Zfp951	A	T	5: 104,963,151 (GRCm39)	H138Q	possibly damaging	Het

Other mutations in Tnrc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00568:Tnrc18	APN	5	142,748,792 (GRCm39)	missense	unknown
IGL01732:Tnrc18	APN	5	142,757,816 (GRCm39)	missense	unknown
IGL01796:Tnrc18	APN	5	142,750,642 (GRCm39)	missense	possibly damaging	0.88
IGL01868:Tnrc18	APN	5	142,757,567 (GRCm39)	missense	unknown
IGL02010:Tnrc18	APN	5	142,773,049 (GRCm39)	missense	unknown
IGL02566:Tnrc18	APN	5	142,758,068 (GRCm39)	splice site	probably benign
IGL02688:Tnrc18	APN	5	142,775,927 (GRCm39)	missense	probably damaging	0.96
IGL03052:Tnrc18	UTSW	5	142,760,974 (GRCm39)	missense	unknown
R0129:Tnrc18	UTSW	5	142,750,800 (GRCm39)	splice site	probably benign
R0617:Tnrc18	UTSW	5	142,762,494 (GRCm39)	missense	unknown
R0894:Tnrc18	UTSW	5	142,800,869 (GRCm39)	missense	probably benign	0.37
R1084:Tnrc18	UTSW	5	142,750,522 (GRCm39)	critical splice donor site	probably null
R1131:Tnrc18	UTSW	5	142,772,963 (GRCm39)	missense	unknown
R1411:Tnrc18	UTSW	5	142,751,702 (GRCm39)	missense	unknown
R1443:Tnrc18	UTSW	5	142,757,288 (GRCm39)	missense	unknown
R1681:Tnrc18	UTSW	5	142,759,572 (GRCm39)	missense	unknown
R1698:Tnrc18	UTSW	5	142,774,458 (GRCm39)	missense	possibly damaging	0.83
R1795:Tnrc18	UTSW	5	142,800,869 (GRCm39)	missense	probably benign	0.37
R1903:Tnrc18	UTSW	5	142,800,895 (GRCm39)	missense	probably damaging	0.99
R1930:Tnrc18	UTSW	5	142,762,079 (GRCm39)	missense	unknown
R1931:Tnrc18	UTSW	5	142,762,079 (GRCm39)	missense	unknown
R1941:Tnrc18	UTSW	5	142,800,905 (GRCm39)	missense	probably damaging	1.00
R2069:Tnrc18	UTSW	5	142,751,842 (GRCm39)	missense	unknown
R2074:Tnrc18	UTSW	5	142,745,461 (GRCm39)	splice site	probably null
R2089:Tnrc18	UTSW	5	142,759,396 (GRCm39)	missense	unknown
R2091:Tnrc18	UTSW	5	142,759,396 (GRCm39)	missense	unknown
R2091:Tnrc18	UTSW	5	142,759,396 (GRCm39)	missense	unknown
R2182:Tnrc18	UTSW	5	142,745,816 (GRCm39)	missense	unknown
R2190:Tnrc18	UTSW	5	142,761,644 (GRCm39)	missense	unknown
R2310:Tnrc18	UTSW	5	142,774,308 (GRCm39)	missense	probably damaging	0.96
R2372:Tnrc18	UTSW	5	142,745,459 (GRCm39)	splice site	probably benign
R2445:Tnrc18	UTSW	5	142,757,870 (GRCm39)	missense	unknown
R3806:Tnrc18	UTSW	5	142,773,029 (GRCm39)	missense	unknown
R4097:Tnrc18	UTSW	5	142,759,561 (GRCm39)	small deletion	probably benign
R4153:Tnrc18	UTSW	5	142,751,747 (GRCm39)	missense	possibly damaging	0.89
R4274:Tnrc18	UTSW	5	142,729,405 (GRCm39)	missense	unknown
R4520:Tnrc18	UTSW	5	142,717,905 (GRCm39)	missense	unknown
R4627:Tnrc18	UTSW	5	142,725,883 (GRCm39)	missense	unknown
R4852:Tnrc18	UTSW	5	142,717,095 (GRCm39)	missense	probably damaging	0.98
R4873:Tnrc18	UTSW	5	142,750,932 (GRCm39)	missense	unknown
R4875:Tnrc18	UTSW	5	142,750,932 (GRCm39)	missense	unknown
R4876:Tnrc18	UTSW	5	142,717,380 (GRCm39)	missense	unknown
R4936:Tnrc18	UTSW	5	142,751,732 (GRCm39)	nonsense	probably null
R4942:Tnrc18	UTSW	5	142,773,737 (GRCm39)	missense	unknown
R4962:Tnrc18	UTSW	5	142,725,248 (GRCm39)	missense	unknown
R5373:Tnrc18	UTSW	5	142,725,911 (GRCm39)	missense	unknown
R5374:Tnrc18	UTSW	5	142,725,911 (GRCm39)	missense	unknown
R5454:Tnrc18	UTSW	5	142,757,446 (GRCm39)	missense	unknown
R5678:Tnrc18	UTSW	5	142,719,319 (GRCm39)	missense	unknown
R5826:Tnrc18	UTSW	5	142,759,502 (GRCm39)	missense	unknown
R5891:Tnrc18	UTSW	5	142,800,926 (GRCm39)	missense	probably damaging	0.99
R6195:Tnrc18	UTSW	5	142,750,928 (GRCm39)	missense	unknown
R6296:Tnrc18	UTSW	5	142,719,331 (GRCm39)	missense	unknown
R6358:Tnrc18	UTSW	5	142,713,736 (GRCm39)	missense	probably damaging	0.99
R6452:Tnrc18	UTSW	5	142,712,767 (GRCm39)	missense	probably damaging	1.00
R6498:Tnrc18	UTSW	5	142,717,923 (GRCm39)	missense	unknown
R6711:Tnrc18	UTSW	5	142,773,545 (GRCm39)	missense	unknown
R6782:Tnrc18	UTSW	5	142,773,063 (GRCm39)	missense	unknown
R6863:Tnrc18	UTSW	5	142,800,952 (GRCm39)	missense	probably damaging	1.00
R6894:Tnrc18	UTSW	5	142,745,804 (GRCm39)	missense	unknown
R6970:Tnrc18	UTSW	5	142,713,744 (GRCm39)	missense	probably damaging	0.99
R7053:Tnrc18	UTSW	5	142,772,984 (GRCm39)	missense	unknown
R7135:Tnrc18	UTSW	5	142,773,572 (GRCm39)	missense
R7756:Tnrc18	UTSW	5	142,772,907 (GRCm39)	missense
R7902:Tnrc18	UTSW	5	142,757,902 (GRCm39)	missense
R8039:Tnrc18	UTSW	5	142,717,807 (GRCm39)	missense	unknown
R8053:Tnrc18	UTSW	5	142,736,385 (GRCm39)	missense	unknown
R8322:Tnrc18	UTSW	5	142,711,767 (GRCm39)	missense	probably damaging	1.00
R8379:Tnrc18	UTSW	5	142,774,157 (GRCm39)	missense
R8745:Tnrc18	UTSW	5	142,773,202 (GRCm39)	missense
R8837:Tnrc18	UTSW	5	142,778,811 (GRCm39)	missense	possibly damaging	0.94
R8894:Tnrc18	UTSW	5	142,725,212 (GRCm39)	missense	unknown
R8909:Tnrc18	UTSW	5	142,762,131 (GRCm39)	missense
R9030:Tnrc18	UTSW	5	142,711,818 (GRCm39)	missense	probably damaging	1.00
R9186:Tnrc18	UTSW	5	142,773,488 (GRCm39)	missense
R9189:Tnrc18	UTSW	5	142,717,107 (GRCm39)	missense	probably damaging	1.00
R9192:Tnrc18	UTSW	5	142,773,602 (GRCm39)	missense
R9227:Tnrc18	UTSW	5	142,773,392 (GRCm39)	missense
R9230:Tnrc18	UTSW	5	142,773,392 (GRCm39)	missense
R9582:Tnrc18	UTSW	5	142,757,128 (GRCm39)	missense
RF022:Tnrc18	UTSW	5	142,759,385 (GRCm39)	missense
Z1177:Tnrc18	UTSW	5	142,759,643 (GRCm39)	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

2014-01-05