Mutagenetix > Incidental Mutation

Incidental Mutation 'R6863:Tnrc18'

535744

Institutional Source

Beutler Lab

Gene Symbol

Tnrc18

Ensembl Gene

ENSMUSG00000039477

Gene Name

trinucleotide repeat containing 18

Synonyms

EG381742, Zfp469

MMRRC Submission

044963-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

R6863 (G1)

Quality Score

125.008

Status

Validated

Chromosome

Chromosomal Location

142710416-142803417 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 142800952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 2 (D2G)

Ref Sequence

ENSEMBL: ENSMUSP00000114769 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000151477] [ENSMUST00000198181]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000151477
AA Change: D2G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114769
Gene: ENSMUSG00000039477
AA Change: D2G

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 damaging
Transcript: ENSMUST00000198181
AA Change: D2G

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143178
Gene: ENSMUSG00000039477
AA Change: D2G

Domain	Start	End	E-Value	Type
low complexity region	38	50	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	A	T	15: 94,277,627 (GRCm39)	Y278*	probably null	Het
Agap3	A	T	5: 24,657,461 (GRCm39)	Y86F	possibly damaging	Het
Agap3	C	A	5: 24,657,462 (GRCm39)	Y86*	probably null	Het
Ahnak	T	C	19: 8,989,729 (GRCm39)		probably benign	Het
Arhgap45	G	T	10: 79,853,616 (GRCm39)	E43D	probably benign	Het
Cacna1d	A	C	14: 29,797,809 (GRCm39)	I1426S	probably damaging	Het
Calhm5	C	A	10: 33,968,451 (GRCm39)	A201S	probably benign	Het
Cdkn2a	T	C	4: 89,193,003 (GRCm39)	E159G	probably benign	Het
Cep85l	C	A	10: 53,225,214 (GRCm39)	W125L	probably damaging	Het
Ces1g	C	T	8: 94,043,647 (GRCm39)	V431M	possibly damaging	Het
Csmd1	G	A	8: 17,584,929 (GRCm39)	A21V	possibly damaging	Het
Ctsc	T	A	7: 87,951,486 (GRCm39)	Y243*	probably null	Het
Ctu1	A	G	7: 43,326,046 (GRCm39)	E235G	probably damaging	Het
Degs2	T	C	12: 108,668,457 (GRCm39)	Y14C	probably damaging	Het
Dnaaf5	T	C	5: 139,137,351 (GRCm39)	F235L	probably damaging	Het
Dpp8	T	C	9: 64,942,290 (GRCm39)	S5P	probably damaging	Het
Dync1h1	T	C	12: 110,618,614 (GRCm39)	I3288T	probably benign	Het
Ebpl	A	T	14: 61,597,751 (GRCm39)	L30Q	probably damaging	Het
Eif1ad15	T	C	12: 88,287,968 (GRCm39)	Y95C	probably damaging	Het
Etaa1	T	A	11: 17,903,794 (GRCm39)	M1L	probably benign	Het
Etl4	A	G	2: 20,811,120 (GRCm39)	T1068A	probably benign	Het
Eya1	C	A	1: 14,341,199 (GRCm39)		probably null	Het
Fat1	G	T	8: 45,497,501 (GRCm39)	V4329L	probably damaging	Het
Fras1	A	T	5: 96,691,165 (GRCm39)	Q127L	probably benign	Het
Gm1110	T	G	9: 26,792,360 (GRCm39)	Y590S	probably damaging	Het
Gm14410	G	A	2: 176,885,860 (GRCm39)	Q135*	probably null	Het
Greb1	A	T	12: 16,734,421 (GRCm39)	V1523D	probably damaging	Het
Hmg20b	T	C	10: 81,182,854 (GRCm39)	N210S	probably damaging	Het
Kcnh7	T	C	2: 62,618,029 (GRCm39)	K487E	possibly damaging	Het
Kcnk13	G	T	12: 100,027,948 (GRCm39)	R341L	probably damaging	Het
Kif17	T	A	4: 137,997,195 (GRCm39)	Y139*	probably null	Het
Klhl2	A	T	8: 65,275,743 (GRCm39)	N53K	probably benign	Het
Lrit2	G	T	14: 36,793,901 (GRCm39)	G322C	probably damaging	Het
Macir	T	C	1: 97,574,030 (GRCm39)	T12A	probably benign	Het
Matcap1	T	C	8: 106,012,435 (GRCm39)	D4G	probably damaging	Het
Mgam	A	T	6: 40,705,943 (GRCm39)	Q4L	probably benign	Het
Mst1r	A	G	9: 107,797,225 (GRCm39)	T1365A	probably benign	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Mydgf	C	A	17: 56,490,789 (GRCm39)	V35L	probably damaging	Het
Nmt2	T	A	2: 3,306,341 (GRCm39)		probably null	Het
Or10s1	A	G	9: 39,986,110 (GRCm39)	Y173C	probably damaging	Het
Or52ad1	C	T	7: 102,996,123 (GRCm39)	C4Y	possibly damaging	Het
Pik3r2	T	C	8: 71,223,058 (GRCm39)	Y454C	probably damaging	Het
Rad54l	T	C	4: 115,956,866 (GRCm39)	Y485C	probably damaging	Het
Rapgef6	T	A	11: 54,437,206 (GRCm39)	S50T	probably benign	Het
Scaf11	T	C	15: 96,317,300 (GRCm39)	S755G	probably damaging	Het
Shb	A	G	4: 45,458,163 (GRCm39)	W135R	probably damaging	Het
Slc1a4	T	C	11: 20,264,001 (GRCm39)	K239E	probably damaging	Het
Slc44a4	T	A	17: 35,142,798 (GRCm39)	V248D	probably benign	Het
Smpdl3a	T	A	10: 57,684,107 (GRCm39)	Y288*	probably null	Het
Sptbn1	T	C	11: 30,096,777 (GRCm39)	M267V	possibly damaging	Het
Taok2	C	T	7: 126,471,109 (GRCm39)	R661Q	probably damaging	Het
Tas1r2	A	T	4: 139,397,030 (GRCm39)	I819F	probably damaging	Het
Themis2	A	T	4: 132,516,907 (GRCm39)	W198R	probably damaging	Het
Timd4	C	G	11: 46,706,270 (GRCm39)	S24*	probably null	Het
Wdr35	A	G	12: 9,040,047 (GRCm39)	D384G	probably damaging	Het
Zfp560	C	A	9: 20,259,795 (GRCm39)	V356F	probably 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
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
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'- ATCCCCATCAAAGCTGGAGG -3'
(R):5'- AGATACCGTGTACGCCTCCTTC -3'

Sequencing Primer
(F):5'- AACACTTACCCGGGTGCG -3'
(R):5'- TCATCTCCGCTCAGCCG -3'

Posted On

2018-10-18