Mutagenetix > Incidental Mutation

Incidental Mutation 'R4936:Tnrc18'

380368

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

042536-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R4936 (G1)

Quality Score

151

Status

Not validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 142751732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 1191 (L1191*)

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: ENSMUST00000036253
AA Change: L1373*

SMART Domains

Protein: ENSMUSP00000040287
Gene: ENSMUSG00000039477
AA Change: L1373*

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
low complexity region	820	859	N/A	INTRINSIC
low complexity region	915	929	N/A	INTRINSIC
low complexity region	950	969	N/A	INTRINSIC
low complexity region	979	992	N/A	INTRINSIC
low complexity region	1092	1111	N/A	INTRINSIC
low complexity region	1268	1288	N/A	INTRINSIC
coiled coil region	1410	1442	N/A	INTRINSIC
low complexity region	1476	1492	N/A	INTRINSIC
low complexity region	1580	1592	N/A	INTRINSIC
low complexity region	1607	1618	N/A	INTRINSIC
low complexity region	1734	1751	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000151477
AA Change: L1373*

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: L1373*

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: L1191*

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: L1191*

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

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300002M23Rik	T	A	17: 35,879,212 (GRCm39)	F183L	possibly damaging	Het
4930590J08Rik	T	A	6: 91,921,245 (GRCm39)	M775K	probably damaging	Het
Actn1	T	G	12: 80,219,772 (GRCm39)	I700L	probably benign	Het
Adam5	T	C	8: 25,276,287 (GRCm39)	Y460C	probably damaging	Het
Akna	C	T	4: 63,313,502 (GRCm39)	G207E	probably damaging	Het
Ank2	T	A	3: 126,748,688 (GRCm39)	H527L	possibly damaging	Het
Anks1	C	A	17: 28,207,779 (GRCm39)	N383K	probably damaging	Het
Apba3	C	T	10: 81,105,204 (GRCm39)		probably null	Het
Atp9b	C	A	18: 80,779,308 (GRCm39)	V1121F	possibly damaging	Het
Bsn	T	C	9: 107,988,960 (GRCm39)	Y2264C	probably damaging	Het
Bst1	A	G	5: 43,997,799 (GRCm39)	D266G	probably damaging	Het
Cep55	A	G	19: 38,060,202 (GRCm39)		probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckb	T	C	12: 111,637,664 (GRCm39)	K156E	probably benign	Het
Cln3	T	A	7: 126,174,393 (GRCm39)	H315L	probably damaging	Het
Cnot6l	A	G	5: 96,227,796 (GRCm39)	F479S	probably damaging	Het
Col1a1	A	G	11: 94,837,958 (GRCm39)	D826G	unknown	Het
Cyp27a1	T	C	1: 74,774,564 (GRCm39)	V194A	probably benign	Het
Dis3l2	C	T	1: 86,971,890 (GRCm39)	P643S	probably benign	Het
Dpf3	T	C	12: 83,378,740 (GRCm39)	D108G	probably damaging	Het
Eif2b4	C	T	5: 31,350,241 (GRCm39)	G27D	probably benign	Het
Eif4a1	T	G	11: 69,563,251 (GRCm39)		probably benign	Het
Espl1	A	T	15: 102,213,372 (GRCm39)	D566V	probably damaging	Het
Ext2	T	A	2: 93,644,024 (GRCm39)	R86*	probably null	Het
Fasn	A	T	11: 120,706,911 (GRCm39)	F914I	probably damaging	Het
Fbf1	A	G	11: 116,043,378 (GRCm39)	L477P	probably benign	Het
Fsd1	A	T	17: 56,303,452 (GRCm39)	K441N	possibly damaging	Het
Fsip2	T	A	2: 82,815,384 (GRCm39)	S3706T	probably benign	Het
Gabra5	A	T	7: 57,058,547 (GRCm39)	N400K	probably benign	Het
Gimap8	G	T	6: 48,633,068 (GRCm39)	G296W	probably damaging	Het
Gli2	A	G	1: 118,763,870 (GRCm39)	V1427A	probably benign	Het
Gm7334	A	T	17: 51,005,855 (GRCm39)	Y47F	probably damaging	Het
Gm8674	T	G	13: 50,054,791 (GRCm39)		noncoding transcript	Het
Gmeb2	G	T	2: 180,896,039 (GRCm39)	T377K	probably benign	Het
Gp9	T	A	6: 87,756,229 (GRCm39)	D81E	probably benign	Het
Il5ra	T	A	6: 106,715,123 (GRCm39)	I212F	possibly damaging	Het
Klhl18	G	T	9: 110,258,029 (GRCm39)	N470K	possibly damaging	Het
Lfng	G	T	5: 140,598,150 (GRCm39)		probably null	Het
Lpo	A	G	11: 87,701,166 (GRCm39)	I430T	probably benign	Het
Lrrc31	C	T	3: 30,743,417 (GRCm39)	D183N	probably damaging	Het
Meis2	T	C	2: 115,694,893 (GRCm39)	T410A	probably benign	Het
Myo6	A	G	9: 80,214,963 (GRCm39)	D1232G	probably damaging	Het
Ncapd2	C	T	6: 125,146,803 (GRCm39)	R1261H	probably benign	Het
Nfkb1	C	T	3: 135,319,743 (GRCm39)	V251M	probably damaging	Het
Nmbr	C	A	10: 14,642,730 (GRCm39)	H96Q	probably damaging	Het
Nop14	C	T	5: 34,809,737 (GRCm39)	R256H	probably damaging	Het
Nqo2	T	A	13: 34,165,501 (GRCm39)	Y133N	probably damaging	Het
Or1f12	T	C	13: 21,721,357 (GRCm39)	I273V	probably benign	Het
Or5w20	A	G	2: 87,727,157 (GRCm39)	I213V	probably benign	Het
Pbld2	C	A	10: 62,888,017 (GRCm39)	S168R	probably damaging	Het
Pcdhb7	G	T	18: 37,475,202 (GRCm39)	G113*	probably null	Het
Pcdhb7	G	T	18: 37,475,203 (GRCm39)	G113V	probably damaging	Het
Pdgfra	A	T	5: 75,355,687 (GRCm39)	T1066S	probably damaging	Het
Prdm8	A	T	5: 98,332,881 (GRCm39)		probably null	Het
Prdm8	G	T	5: 98,332,882 (GRCm39)		probably null	Het
Prkg1	T	C	19: 30,563,775 (GRCm39)	Y479C	probably benign	Het
Pudp	T	C	18: 50,701,539 (GRCm39)	T65A	probably benign	Het
Rbbp6	C	T	7: 122,598,926 (GRCm39)		probably benign	Het
Rcc1	C	G	4: 132,063,046 (GRCm39)	V187L	probably damaging	Het
Rims2	T	A	15: 39,301,124 (GRCm39)	M285K	probably damaging	Het
Rtkn2	T	C	10: 67,877,745 (GRCm39)	*602Q	probably null	Het
Rxfp3	T	G	15: 11,036,866 (GRCm39)	S169R	probably damaging	Het
Sardh	T	C	2: 27,118,253 (GRCm39)		probably null	Het
Slc24a2	A	T	4: 87,145,584 (GRCm39)	F157I	probably damaging	Het
Slc25a20	T	C	9: 108,559,191 (GRCm39)	Y186H	probably damaging	Het
Slc25a24	A	G	3: 109,070,864 (GRCm39)	R408G	probably damaging	Het
Slc44a5	T	G	3: 153,959,353 (GRCm39)	I348S	probably damaging	Het
Slc8a2	A	T	7: 15,868,100 (GRCm39)	K111*	probably null	Het
Smc5	A	G	19: 23,211,367 (GRCm39)	V589A	probably damaging	Het
Thbd	A	T	2: 148,249,655 (GRCm39)	I71N	probably damaging	Het
Thsd7b	T	C	1: 129,605,882 (GRCm39)	M541T	probably benign	Het
Tie1	T	A	4: 118,341,968 (GRCm39)		silent	Het
Tln1	A	G	4: 43,547,522 (GRCm39)	F813S	possibly damaging	Het
Tubb2a	A	C	13: 34,259,240 (GRCm39)	Y183*	probably null	Het
Ubr4	T	A	4: 139,123,877 (GRCm39)	V343E	probably damaging	Het
Vmn2r93	A	T	17: 18,524,327 (GRCm39)	D107V	possibly damaging	Het
Vwa5a	T	G	9: 38,647,494 (GRCm39)	S624R	probably benign	Het
Wwox	G	A	8: 115,433,098 (GRCm39)	V255I	probably benign	Het
Wwp1	T	C	4: 19,638,804 (GRCm39)	K546E	probably damaging	Het
Xirp2	T	A	2: 67,340,163 (GRCm39)	F801L	possibly damaging	Het
Zfp407	T	C	18: 84,577,589 (GRCm39)	I1175V	probably benign	Het
Zfp646	T	A	7: 127,480,933 (GRCm39)	C1037S	possibly damaging	Het
Zfp786	A	T	6: 47,798,202 (GRCm39)	C245*	probably null	Het
Zfp827	T	C	8: 79,787,812 (GRCm39)	V326A	probably benign	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
R1056:Tnrc18	UTSW	5	142,759,614 (GRCm39)	nonsense	probably null
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
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'- ACCAACTGAGGGCCACATAG -3'
(R):5'- AGGGCTGACTATAGTATCTGGG -3'

Sequencing Primer
(F):5'- CAACTGAGGGCCACATAGCAAAAAG -3'
(R):5'- CATGGGTACGGCCATCTTG -3'

Posted On

2016-04-15