Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03052:Tnrc18'

392174

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

IGL03052 (G1)

Quality Score

109

Status

Validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 142760974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 674 (A674V)

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: ENSMUST00000036253
AA Change: A857V

SMART Domains

Protein: ENSMUSP00000040287
Gene: ENSMUSG00000039477
AA Change: A857V

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

unknown
Transcript: ENSMUST00000151477
AA Change: A857V

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: A857V

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: A674V

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477
AA Change: A674V

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

Meta Mutation Damage Score

0.1665

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	T	C	4: 155,987,815 (GRCm39)	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,881,894 (GRCm39)	V267A	probably benign	Het
Asap1	A	G	15: 64,025,683 (GRCm39)		probably benign	Het
Bcl6	T	C	16: 23,793,788 (GRCm39)		probably benign	Het
Ccdc73	C	A	2: 104,782,281 (GRCm39)	H212Q	possibly damaging	Het
Cct5	A	T	15: 31,597,633 (GRCm39)	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,639,206 (GRCm39)	L238R	probably damaging	Het
Chl1	A	T	6: 103,668,628 (GRCm39)	T470S	probably benign	Het
Cnga4	T	C	7: 105,053,932 (GRCm39)	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,275,662 (GRCm39)	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,637,329 (GRCm39)	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,533,909 (GRCm39)	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,858,240 (GRCm39)	V164A	probably damaging	Het
Dnaaf8	A	T	16: 4,795,358 (GRCm39)		noncoding transcript	Het
Dnah7c	A	G	1: 46,671,309 (GRCm39)	Y1566C	probably damaging	Het
Dnase1l2	T	C	17: 24,659,968 (GRCm39)		probably benign	Het
Dock2	G	T	11: 34,182,853 (GRCm39)	N1593K	probably benign	Het
Dpp6	G	T	5: 27,914,506 (GRCm39)	M530I	probably benign	Het
Epm2a	T	C	10: 11,332,974 (GRCm39)	V269A	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Fgf2	A	G	3: 37,403,161 (GRCm39)	S55G	probably benign	Het
Frem3	C	T	8: 81,341,159 (GRCm39)	P1151S	probably damaging	Het
Gm15737	T	C	6: 92,846,481 (GRCm39)		probably benign	Het
Gpi-ps	T	A	8: 5,689,816 (GRCm39)		noncoding transcript	Het
Gvin-ps6	T	C	7: 106,022,902 (GRCm39)		noncoding transcript	Het
Hoxa3	G	A	6: 52,147,267 (GRCm39)		probably benign	Het
Larp7-ps	A	G	4: 92,079,287 (GRCm39)	L178P	probably benign	Het
Macf1	T	C	4: 123,281,188 (GRCm39)	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,865,731 (GRCm39)	R8L	probably benign	Het
Mecom	C	T	3: 30,015,112 (GRCm39)		probably benign	Het
Mknk2	C	T	10: 80,505,496 (GRCm39)	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,293,341 (GRCm39)	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,876 (GRCm39)	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,159,798 (GRCm39)		probably benign	Het
Myom2	T	C	8: 15,173,442 (GRCm39)		probably benign	Het
Or52m2	C	T	7: 102,263,656 (GRCm39)	R180Q	probably benign	Het
Or5b124	T	C	19: 13,611,090 (GRCm39)	I205T	probably benign	Het
Or7g25	A	T	9: 19,159,938 (GRCm39)	Y252*	probably null	Het
Pcca	A	T	14: 123,124,513 (GRCm39)	M695L	probably benign	Het
Pcdha2	A	T	18: 37,074,670 (GRCm39)	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,459,189 (GRCm39)	D16N	probably benign	Het
Prr11	T	C	11: 86,994,478 (GRCm39)	N56S	possibly damaging	Het
Rxfp2	A	T	5: 149,966,645 (GRCm39)		probably benign	Het
Sacs	G	T	14: 61,445,307 (GRCm39)	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,371,163 (GRCm39)	A4V	probably damaging	Het
Scart2	G	A	7: 139,828,827 (GRCm39)	C162Y	probably damaging	Het
Sik3	C	A	9: 46,109,447 (GRCm39)	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,594,311 (GRCm39)	I59L	probably benign	Het
Sspo	G	A	6: 48,437,387 (GRCm39)	G1382R	probably damaging	Het
Stx16	C	A	2: 173,934,231 (GRCm39)	P145T	probably benign	Het
Uqcrq	A	G	11: 53,321,476 (GRCm39)	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 86,652,799 (GRCm39)	E497V	probably benign	Het
Vps8	T	A	16: 21,267,115 (GRCm39)	I166K	probably damaging	Het
Vwa8	A	G	14: 79,302,361 (GRCm39)	D1010G	probably benign	Het
Wnk1	T	A	6: 119,921,760 (GRCm39)		probably benign	Het
Zfand3	T	A	17: 30,279,798 (GRCm39)	M29K	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
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
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'- TTTCCACTGCTCATGGGGTG -3'
(R):5'- TCTCCCTCTGAAAACTGGGTGG -3'

Sequencing Primer
(F):5'- GCTGTGCTGGGTGTCATCC -3'
(R):5'- TCTGAAAACTGGGTGGGAGCC -3'

Posted On

2016-06-09