Mutagenetix > Incidental Mutation

Incidental Mutation 'RF023:5430401F13Rik'

603992

Institutional Source

Beutler Lab

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

RF023 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

AAAAACAGAAAGGAAAAGGTGGCCAG to AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131552878 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 benign
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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

96% (24/25)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	TTATTATTATTATTAG	3: 37,050,760		probably benign	Het
A030005L19Rik	TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG	TGGCTGTGGCTGTGG	1: 82,913,396		probably benign	Het
Amot	GCAACAGCAAC	GC	X: 145,451,003		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Arhgef5	T	A	6: 43,279,473	S1172T	probably damaging	Het
Cacna2d4	G	A	6: 119,268,230	V300I	probably benign	Het
Calhm1	GTGGC	GTGGCTGTGGCTTTGGC	19: 47,141,273		probably benign	Het
Camk2b	T	C	11: 5,972,301	T516A	probably damaging	Het
Ccdc170	CCA	CCAACA	10: 4,561,018		probably benign	Het
Cdhr3	G	T	12: 33,060,349	S312Y	probably damaging	Het
Cdk1	C	T	10: 69,340,498	G260S	possibly damaging	Het
Cdsn	AG	AGACAGGAAGTAGTAGCTCTCAG	17: 35,554,979		probably benign	Het
Cenpp	A	T	13: 49,650,144	V88E	probably benign	Het
Cfap46	TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC	TCTTCTCCTTCTCCTTCTCC	7: 139,638,918			Het
Dnah11	T	A	12: 117,954,850	R3449W	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131		probably null	Het
E4f1	AGGC	AGGCGGC	17: 24,455,183		probably benign	Het
Efhd2	CCGCCG	CCGCCGGCGCCG	4: 141,874,762		probably benign	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Ephx2	A	G	14: 66,084,929		probably null	Het
Exd2	GCAGCAGCCGCAGCCACAGC	GCAGC	12: 80,475,915		probably benign	Het
Gabre	GCTC	GCTCCGTCTC	X: 72,270,054		probably benign	Het
H13	G	A	2: 152,669,669	E30K	probably damaging	Het
Herc1	G	C	9: 66,458,334	G324R		Het
Hsdl2	CAGCCACAGCTGCAG	CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG	4: 59,610,644		probably benign	Het
Il2	GCTTGAAG	GCTTGAAGCGGGCCTTGAAG	3: 37,125,820		probably benign	Het
Krtap28-10	CAG	CAGCCCTAG	1: 83,042,146		probably null	Het
Krtap28-10	ACAGC	ACAGCCACGGCCACCGCAGC	1: 83,042,286		probably benign	Het
Krtap4-9	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG	11: 99,785,391		probably benign	Het
Lce1m	TGCTGCC	TGCTGCCCCCGCCGCTGCC	3: 93,018,280		probably benign	Het
Lrch1	TGGTGGTG	T	14: 74,947,566		probably null	Het
Mgam	C	T	6: 40,680,708	T999I	probably benign	Het
Mkl1	T	C	15: 81,015,856	E740G	probably damaging	Het
Nek1	A	G	8: 61,072,745		probably null	Het
Phactr2	T	A	10: 13,245,434	Q503H	probably benign	Het
Ptprd	T	C	4: 76,128,565	Y241C	probably damaging	Het
Rad51ap2	T	G	12: 11,458,075	V666G	possibly damaging	Het
Reep1	CC	CCCGAC	6: 71,707,968		probably null	Het
Rfx4	CTCTCTCTCT	CTCTCTCTCTCTCTCTCTGTCTCTCTCT	10: 84,858,485		probably benign	Het
Rnf126	AGGACGAGG	AG	10: 79,759,143		probably null	Het
Rnpc3	A	T	3: 113,620,074	S240T	probably damaging	Het
Rtbdn	GCAGCG	GCAGCGTCAGCG	8: 84,956,166		probably benign	Het
Sec31b	G	T	19: 44,535,787	A138D	probably damaging	Het
Syne1	A	T	10: 5,255,482	W3495R	probably damaging	Het
Tgoln1	CC	CCCGTGGGCTTGCCAGAATTACCTTC	6: 72,616,080		probably benign	Het
Tmtc3	T	C	10: 100,477,866	H48R	probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGATGCTGCT	15: 72,801,324		probably benign	Het
Trappc9	T	TGCTGCTGCTGCTGCC	15: 72,801,331		probably benign	Het
Vsig2	T	A	9: 37,539,263		probably null	Het
Wnk2	T	C	13: 49,146,779	T152A	probably benign	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
R6671:5430401F13Rik	UTSW	6	131551350	critical splice donor site	probably null
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
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'- TAAGGAAGCCATCAAGTCCAAG -3'
(R):5'- TGCTCTGAGGGAATCACTGGAG -3'

Sequencing Primer
(F):5'- TAGACGAAGCTCTGATGATGAC -3'
(R):5'- CACTGGAGACCATCTTTAGTAGG -3'

Posted On

2019-12-04