Mutagenetix > Incidental Mutation

Incidental Mutation 'R4097:Tnrc18'

317163

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

040984-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.787) question?

Stock #

R4097 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

small deletion (2 aa in frame mutation)

DNA Base Change (assembly)

ATCTTCC to A at 142759561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000040287
Gene: ENSMUSG00000039477

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 benign
Transcript: ENSMUST00000151477

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477

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 benign
Transcript: ENSMUST00000152247

SMART Domains

Protein: ENSMUSP00000117651
Gene: ENSMUSG00000039477

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: 98.7%
10x: 97.5%
20x: 96.1%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	A	G	10: 83,348,228 (GRCm39)	F292L	probably damaging	Het
Ankrd36	A	G	11: 5,578,703 (GRCm39)	D664G	possibly damaging	Het
Bbs1	T	A	19: 4,947,345 (GRCm39)	Y358F	probably damaging	Het
Becn1	C	T	11: 101,185,092 (GRCm39)		probably benign	Het
Cenpp	A	T	13: 49,647,265 (GRCm39)	N47I	possibly damaging	Het
Clec4n	A	T	6: 123,207,700 (GRCm39)	H55L	possibly damaging	Het
Cntnap4	A	G	8: 113,478,939 (GRCm39)	I222V	probably benign	Het
Cttnbp2	T	C	6: 18,420,871 (GRCm39)	E370G	probably benign	Het
Cyp4a10	T	A	4: 115,386,480 (GRCm39)	V413E	probably damaging	Het
Dctn2	C	T	10: 127,113,362 (GRCm39)	L249F	probably damaging	Het
Dnah9	T	C	11: 65,881,285 (GRCm39)	S146G	probably damaging	Het
Dzip3	A	T	16: 48,778,852 (GRCm39)	L315*	probably null	Het
Evpl	T	C	11: 116,114,003 (GRCm39)	E1229G	possibly damaging	Het
Ice2	T	C	9: 69,328,953 (GRCm39)	V775A	possibly damaging	Het
Jmjd1c	A	G	10: 67,054,787 (GRCm39)	E69G	probably benign	Het
Lrrc66	T	A	5: 73,765,047 (GRCm39)	R665S	possibly damaging	Het
Mpdz	T	A	4: 81,253,937 (GRCm39)	H1065L	probably damaging	Het
Nrf1	C	T	6: 30,151,671 (GRCm39)	Q503*	probably null	Het
Nt5dc3	G	A	10: 86,669,820 (GRCm39)	A472T	probably benign	Het
Oprk1	T	A	1: 5,673,034 (GRCm39)		probably benign	Het
Or7g17	T	C	9: 18,767,933 (GRCm39)	I4T	probably benign	Het
Or9g3	T	C	2: 85,590,040 (GRCm39)	I227V	possibly damaging	Het
Pramel6	T	G	2: 87,339,697 (GRCm39)	F154V	probably benign	Het
Ralb	T	C	1: 119,411,228 (GRCm39)	D37G	probably benign	Het
Ranbp9	A	T	13: 43,574,733 (GRCm39)	Y412N	probably damaging	Het
Scg2	T	A	1: 79,413,538 (GRCm39)	D395V	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpine3	T	A	14: 62,908,395 (GRCm39)	L141Q	probably damaging	Het
Sgpl1	C	T	10: 60,939,017 (GRCm39)	G394D	probably damaging	Het
Sh3pxd2a	T	C	19: 47,412,951 (GRCm39)	Y44C	probably damaging	Het
Slc6a20b	A	G	9: 123,441,822 (GRCm39)		probably benign	Het
Snapc5	T	C	9: 64,087,809 (GRCm39)	I40T	probably damaging	Het
Spopl	T	C	2: 23,401,413 (GRCm39)	H365R	probably benign	Het
Stil	T	A	4: 114,880,797 (GRCm39)	I447N	probably benign	Het
Taf3	C	A	2: 9,957,178 (GRCm39)	V330F	possibly damaging	Het
Tgoln1	T	C	6: 72,592,784 (GRCm39)	E232G	probably damaging	Het
Thrap3	A	G	4: 126,065,595 (GRCm39)	L729P	probably damaging	Het
Tmem269	A	T	4: 119,062,977 (GRCm39)	F220Y	probably damaging	Het
Ubxn6	T	C	17: 56,376,712 (GRCm39)	T227A	probably benign	Het
Wdr17	C	A	8: 55,088,504 (GRCm39)	R1182I	probably damaging	Het
Wdr26	T	C	1: 181,010,352 (GRCm39)	I550V	probably benign	Het
Wdr43	A	G	17: 71,964,532 (GRCm39)	N637S	probably benign	Het
Zfp516	A	G	18: 83,005,381 (GRCm39)	T762A	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
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
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'- GCAGCCGTTGTCCTACATTC -3'
(R):5'- TTGAAAGCACAAGAGCATCG -3'

Sequencing Primer
(F):5'- CTGTGAACAGGGCCTGGAAC -3'
(R):5'- AGGAGCCTGGAGACCAC -3'

Posted On

2015-05-15