Mutagenetix > Incidental Mutation

Incidental Mutation 'RF063:5430401F13Rik'

605461

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: 0.057) question?

Stock #

RF063 (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)

AGAAAGGAAAAGGTGGCCAG to AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131552884 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: 99.3%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca2	G	T	2: 25,447,397	E2421D	probably damaging	Het
Apc	A	AATAAAGCCC	18: 34,282,009		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,256		probably benign	Het
Casz1	CACA	C	4: 148,952,304		probably benign	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
F11r	CCCCCCCCC	CCCCCCCCCCC	1: 171,461,190		probably benign	Het
Fam171b	C	CAGCAGA	2: 83,812,896		probably benign	Het
Fbrsl1	GCGTGTGCTGGT	GCGTGTGCTGGTACGTGTGCTGGT	5: 110,378,139		probably benign	Het
Fbrsl1	GTGCTGGTG	GTGCTGGTGCGTCTGCTGGTG	5: 110,378,143		probably benign	Het
Iqcf4	TCCTTTT	TCCTTTTCCTTTTCCTTGTCCTTTTCCTTTTCCTTTGCCTTTT	9: 106,570,617		probably benign	Het
Iqgap1	AGGCCACCACTGCTCACAGGTGCTGTACCT	A	7: 80,723,751		probably null	Het
Kmt2c	GCT	GCTCCT	5: 25,315,764		probably benign	Het
Lrtm1	TAGCCTCAGTGGCC	T	14: 29,021,443		probably null	Het
Med12l	AACA	AACAACA	3: 59,275,958		probably benign	Het
Med12l	AGC	AGCCGC	3: 59,275,973		probably benign	Het
Rassf6	C	CTGCCTCACTCATGGTCCTGTAGAGCAATGGGGATTA	5: 90,608,942		probably null	Het
Sh3pxd2b	TGTGCC	TGTGCCCGTGCC	11: 32,423,051		probably benign	Het
Sorcs2	ATACATACATACCT	AT	5: 36,153,811		probably null	Het
Sry	TGCTGCTGCTGCTGCTG	T	Y: 2,662,595		probably null	Het
Stard8	GAG	GAGTAG	X: 99,066,524		probably null	Het
Tcof1	GATCCCCTTGGC	GATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGATATCCCCTTGGC	18: 60,833,573		probably benign	Het
Thegl	CCAG	CCAGCGATCCTCCCCAGTCCCGCAAGGTCAG	5: 77,016,426		probably benign	Het
Trappc9	GCTGCTGCTGCT	GCTGCTGCTGCTGCTTCTGCTGCTGCT	15: 72,801,320		probably benign	Het
Trappc9	CTGCTGCT	CTGCTGCTGCTGCTGTTGCTGCT	15: 72,801,324		probably benign	Het
Vmn1r74	CAGAGCCACCAAGTACCT	C	7: 11,847,140		probably null	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
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
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'- TTTGCTCTGAGGGAATCACTG -3'

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

Posted On

2019-12-04