Mutagenetix > Incidental Mutation

Incidental Mutation 'R2394:1700020L13Rik'

247909

Institutional Source

Beutler Lab

Gene Symbol

1700020L13Rik

Ensembl Gene

ENSMUSG00000013928

Gene Name

RIKEN cDNA 1700020L13 gene

Synonyms

Thap8, 1700020L13Rik

MMRRC Submission

040362-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R2394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29979519-29989662 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 29980053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000116772 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014072] [ENSMUST00000108187] [ENSMUST00000108190] [ENSMUST00000145027]

AlphaFold

E9Q695

Predicted Effect

unknown
Transcript: ENSMUST00000014072
AA Change: M33L

Predicted Effect

unknown
Transcript: ENSMUST00000108187
AA Change: M33L

Predicted Effect

probably benign
Transcript: ENSMUST00000108190

SMART Domains

Protein: ENSMUSP00000103825
Gene: ENSMUSG00000037020

Domain	Start	End	E-Value	Type
low complexity region	27	53	N/A	INTRINSIC
WD40	101	142	4.24e-3	SMART
WD40	145	186	1.03e-1	SMART
WD40	189	226	7.4e0	SMART
WD40	284	322	3.55e1	SMART
WD40	353	388	1.85e0	SMART
WD40	395	442	2.98e-1	SMART
WD40	482	521	2.77e-1	SMART
WD40	524	566	2.3e0	SMART
WD40	570	610	4.18e-2	SMART
WD40	615	657	1.54e0	SMART
WD40	660	702	8.49e-3	SMART
WD40	705	744	3.61e-6	SMART
low complexity region	763	768	N/A	INTRINSIC
low complexity region	797	811	N/A	INTRINSIC
low complexity region	980	987	N/A	INTRINSIC
low complexity region	1215	1226	N/A	INTRINSIC
low complexity region	1302	1313	N/A	INTRINSIC
low complexity region	1477	1497	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145027

SMART Domains

Protein: ENSMUSP00000116772
Gene: ENSMUSG00000037020

Domain	Start	End	E-Value	Type
low complexity region	27	53	N/A	INTRINSIC
WD40	101	142	4.24e-3	SMART
WD40	145	186	1.03e-1	SMART
WD40	189	226	7.4e0	SMART
WD40	284	322	3.55e1	SMART
WD40	353	388	1.85e0	SMART
WD40	395	442	2.98e-1	SMART
WD40	482	521	2.77e-1	SMART
WD40	524	566	2.3e0	SMART
WD40	570	610	4.18e-2	SMART
WD40	615	657	1.54e0	SMART
WD40	660	702	8.49e-3	SMART
WD40	705	744	3.61e-6	SMART
low complexity region	763	768	N/A	INTRINSIC
low complexity region	797	811	N/A	INTRINSIC
low complexity region	980	987	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000208866

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,500,190 (GRCm39)		probably null	Het
Atxn7	T	C	14: 14,100,237 (GRCm38)	V641A	probably damaging	Het
C3	G	A	17: 57,529,303 (GRCm39)	Q30*	probably null	Het
Ccdc162	A	G	10: 41,445,894 (GRCm39)	I426T	probably damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Cwc27	A	C	13: 104,932,942 (GRCm39)	D253E	probably benign	Het
Cyp1a1	T	A	9: 57,607,432 (GRCm39)	V20D	probably benign	Het
Dmbt1	T	A	7: 130,696,464 (GRCm39)	Y892*	probably null	Het
Dnhd1	T	A	7: 105,369,438 (GRCm39)	Y4354N	probably benign	Het
Dync2li1	T	A	17: 84,952,175 (GRCm39)	I202K	possibly damaging	Het
Dyrk1a	T	A	16: 94,485,991 (GRCm39)	V446E	probably benign	Het
Efcab3	C	A	11: 104,629,121 (GRCm39)	T933K	probably benign	Het
Fam186b	T	C	15: 99,178,058 (GRCm39)	I423V	probably benign	Het
Gm5108	T	C	5: 68,132,475 (GRCm39)		probably benign	Het
Htr3a	A	G	9: 48,817,643 (GRCm39)	V110A	probably benign	Het
Itsn2	C	A	12: 4,757,005 (GRCm39)	S1365Y	possibly damaging	Het
Lrrc46	T	C	11: 96,929,657 (GRCm39)	I60V	probably damaging	Het
Mtrex	A	T	13: 113,019,702 (GRCm39)	Y803N	probably benign	Het
Nlrp14	T	C	7: 106,797,031 (GRCm39)	V307A	probably benign	Het
Nt5c2	A	G	19: 46,878,506 (GRCm39)		probably null	Het
Obox2	C	T	7: 15,130,935 (GRCm39)	P56S	possibly damaging	Het
Olfml2b	A	G	1: 170,477,319 (GRCm39)	I151M	possibly damaging	Het
Oog3	T	A	4: 143,885,884 (GRCm39)	D238V	probably benign	Het
Pde11a	T	C	2: 75,889,405 (GRCm39)	T690A	probably benign	Het
Ppa1	A	G	10: 61,508,163 (GRCm39)		probably benign	Het
Ppfia2	A	G	10: 106,655,351 (GRCm39)	E306G	probably damaging	Het
Ppic	G	A	18: 53,544,119 (GRCm39)	R89C	probably damaging	Het
Ptprk	T	G	10: 28,427,713 (GRCm39)	I764S	probably damaging	Het
Ripk2	T	C	4: 16,132,774 (GRCm39)		probably benign	Het
Rnf123	A	G	9: 107,940,735 (GRCm39)	M702T	probably benign	Het
Slco1b2	T	C	6: 141,615,100 (GRCm39)	I335T	probably damaging	Het
Ssbp1	T	A	6: 40,453,743 (GRCm39)	D96E	probably benign	Het
Tpp2	T	A	1: 44,022,346 (GRCm39)	S915T	possibly damaging	Het
Unc5c	A	T	3: 141,383,892 (GRCm39)	Q90L	probably damaging	Het
Vmn2r57	A	G	7: 41,049,619 (GRCm39)	I710T	possibly damaging	Het
Wdr90	G	A	17: 26,070,429 (GRCm39)	P1104L	probably damaging	Het

Other mutations in 1700020L13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0885:1700020L13Rik	UTSW	7	29,980,094 (GRCm39)	nonsense	probably null
R7314:1700020L13Rik	UTSW	7	29,989,320 (GRCm39)	missense	unknown
R7369:1700020L13Rik	UTSW	7	29,989,377 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCAATCACAAAGCTTCCGGG -3'
(R):5'- GCGTACAAAATGTTCCTCGTGC -3'

Sequencing Primer
(F):5'- ATCACAAAGCTTCCGGGTAGGC -3'
(R):5'- GTACAAAATGTTCCTCGTGCTACCG -3'

Posted On

2014-11-11