Mutagenetix > Incidental Mutation

Incidental Mutation 'R6671:5430401F13Rik'

527136

Institutional Source

Beutler Lab

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R6671 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 131551350 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]

AlphaFold

E9Q328

Predicted Effect

probably benign
Transcript: ENSMUST00000075020

SMART Domains

Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000161385

SMART Domains

Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

97% (32/33)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	G	8: 79,689,177	V404A	probably benign	Het
Cpd	T	A	11: 76,795,533	I990F	probably damaging	Het
Ddhd1	CA	C	14: 45,657,232		probably null	Het
Dnajb6	A	G	5: 29,748,420	E17G	probably damaging	Het
Fastk	T	C	5: 24,441,609	D308G	probably damaging	Het
Fkbp14	A	G	6: 54,579,677	Y69H	probably damaging	Het
Gldn	T	C	9: 54,338,407	L414P	probably damaging	Het
Glmn	T	A	5: 107,549,414	M487L	probably benign	Het
Gm3404	C	A	5: 146,527,677	R163S	probably benign	Het
Gm5591	T	G	7: 38,520,099	D450A	possibly damaging	Het
Gucy1b1	T	C	3: 82,034,408	T575A	probably benign	Het
Hydin	T	A	8: 110,601,318	V4819D	probably damaging	Het
Ikbip	A	G	10: 91,096,607		probably null	Het
Mertk	G	T	2: 128,752,023		probably null	Het
Mfsd1	T	C	3: 67,585,662	V93A	possibly damaging	Het
Myh11	A	T	16: 14,226,616	M641K	possibly damaging	Het
Myo3a	A	T	2: 22,294,522	N269Y	probably damaging	Het
Nisch	A	T	14: 31,204,463		probably benign	Het
Otof	A	G	5: 30,419,533	V125A	probably benign	Het
Pla2g4a	A	G	1: 149,887,631	I93T	probably benign	Het
Prrc2c	A	G	1: 162,697,585	I484T	probably damaging	Het
Qrich1	T	A	9: 108,533,786	I170N	probably benign	Het
Rb1	A	T	14: 73,197,266	M904K	probably damaging	Het
Rgs11	A	T	17: 26,208,298	K399M	probably damaging	Het
Tmprss13	C	T	9: 45,343,231	T432M	probably damaging	Het
Tpp1	C	T	7: 105,749,607	R205H	probably benign	Het
Vps53	A	G	11: 76,134,506	Y171H	probably damaging	Het
Zbtb8b	C	T	4: 129,427,784	R395Q	probably damaging	Het
Zfp81	A	T	17: 33,335,439	C134S	probably benign	Het
Zranb1	A	G	7: 132,971,313	D403G	probably damaging	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:5430401F13Rik	APN	6	131552592	missense	probably benign	0.14
R0866:5430401F13Rik	UTSW	6	131552779	missense	unknown
R1674:5430401F13Rik	UTSW	6	131552803	missense	unknown
R6374:5430401F13Rik	UTSW	6	131552929	missense	unknown
R7150:5430401F13Rik	UTSW	6	131552667	missense	probably benign	0.16
RF005:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
RF014:5430401F13Rik	UTSW	6	131552857	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552856	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552859	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552861	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552855	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552878	small insertion	probably benign
RF029:5430401F13Rik	UTSW	6	131552895	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552888	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552873	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552892	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552894	small insertion	probably benign
RF042:5430401F13Rik	UTSW	6	131552886	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552901	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552883	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
X0062:5430401F13Rik	UTSW	6	131552638	missense	probably benign	0.29
Z1177:5430401F13Rik	UTSW	6	131552721	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- GTAGGTTCAATCTATGACAGCAAAC -3'
(R):5'- TGTCACCACAAGGACAACTG -3'

Sequencing Primer
(F):5'- GTTCAATCTATGACAGCAAACAAAAC -3'
(R):5'- GCTGGACTCGAACTCAGAAATCTG -3'

Posted On

2018-07-23