Mutagenetix > Incidental Mutation

Incidental Mutation 'RF042:5430401F13Rik'

604871

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: 0.056) question?

Stock #

RF042 (G1)

Quality Score

176.468

Status

Not validated

Chromosome

Chromosomal Location

131520725-131530720 bp(+) (GRCm39)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

AAAGGAAAAGGTGGCCAG to AAAGGAAAAGGTGGCCAGCAAAAACAGGAAGGAAAAGGTGGCCAG at 131529849 bp (GRCm39)

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: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GCTGCTG	GCTGCTGTGACTGCTG	1: 82,891,305 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,245 (GRCm39)		probably benign	Het
AI837181	CG	CGGTG	19: 5,475,265 (GRCm39)		probably benign	Het
Anapc2	GCGGCGGCGGCGAC	GC	2: 25,162,573 (GRCm39)		probably benign	Het
Cgnl1	AGCG	AGCGGCG	9: 71,631,997 (GRCm39)		probably benign	Het
Cntnap1	TTT	TTTTGTT	11: 101,071,131 (GRCm39)		probably benign	Het
Cul9	TTCTC	TTC	17: 46,851,541 (GRCm39)		probably null	Het
Dnmt1	GGGGCGGAGCACAGTTCCTACCTCGTT	GGGGCGGAGCACAGTTCCTACCTCGTTTTGTGGGCGGAGCACAGTTCCTACCTCGTT	9: 20,821,415 (GRCm39)		probably null	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	TCT	TCTACT	X: 74,043,611 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,628 (GRCm39)		probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)		probably benign	Het
Gm8369	TGTG	TGTGAGTG	19: 11,489,137 (GRCm39)		probably null	Het
Gm8369	GTGTGT	GTGTGTTTGTGT	19: 11,489,142 (GRCm39)		probably benign	Het
Gykl1	G	A	18: 52,827,488 (GRCm39)	R232Q	probably benign	Het
Igkv12-89	G	GCAACGCCAT	6: 68,812,270 (GRCm39)		probably benign	Het
Iqcf4	TCCTTTTCCTTTTCCTTTT	TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTTCCTTTT	9: 106,447,804 (GRCm39)		probably benign	Het
Kmt2e	TTT	TTTTCTT	5: 23,683,507 (GRCm39)		probably benign	Het
Krtap28-10	CCACAG	CCACAGACACAG	1: 83,019,846 (GRCm39)		probably benign	Het
Las1l	CTTCCT	CTTCCTTTTCCT	X: 94,984,226 (GRCm39)		probably benign	Het
Lca5l	GCCCTGGCCCTGGCCCC	GCCC	16: 95,960,497 (GRCm39)		probably null	Het
Lce1m	CACTGCTGCTGC	CACTGCTGCTGCAACTGCTGCTGC	3: 92,925,446 (GRCm39)		probably benign	Het
Lypd8	CA	CAGTTCCCTCGCCTCTGTTACCCCACAAATCACCAATA	11: 58,281,069 (GRCm39)		probably benign	Het
Mamld1	GCAACA	GCAACAACA	X: 70,162,418 (GRCm39)		probably benign	Het
Mamld1	A	AGCC	X: 70,162,459 (GRCm39)		probably benign	Het
Map1a	T	TTGCTCCACCTCCAGCTCCAGCTCCAGCTCC	2: 121,136,768 (GRCm39)		probably benign	Het
Med12l	CAG	CAGAAG	3: 59,183,402 (GRCm39)		probably benign	Het
Med12l	GC	GCATC	3: 59,183,416 (GRCm39)		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,183,377 (GRCm39)		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,183,388 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,458,088 (GRCm39)		probably null	Het
Opa3	GCGGGC	GCGGGCGGAGCTGCGGGCGGAGCTGCGGGCGGAGCTACGGGC	7: 18,989,594 (GRCm39)		probably benign	Het
Pdia4	CTCTTCCTCCT	C	6: 47,785,240 (GRCm39)		probably null	Het
Reep1	CGCCA	CGCCAGCCA	6: 71,684,950 (GRCm39)		probably null	Het
Sbp	AAGA	AAGACGCTGACAACAGAGA	17: 24,164,358 (GRCm39)		probably benign	Het
Sfswap	CTCGGCCCA	CTCGGCCCAGTCGGCCCA	5: 129,646,807 (GRCm39)		probably benign	Het
Slc39a4	TC	TCATCATGATCACCATGGTCACCATGATCACTGTGGCC	15: 76,499,071 (GRCm39)		probably benign	Het
Srpk2	ATCCT	AT	5: 23,730,573 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,022 (GRCm39)		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,593,057 (GRCm39)		probably benign	Het
Tob1	CACA	CACAACA	11: 94,105,277 (GRCm39)		probably benign	Het
Trappc9	A	AGCTGCTGCTGCTGCT	15: 72,673,132 (GRCm39)		probably benign	Het
Tsen2	GGA	GGATGA	6: 115,537,028 (GRCm39)		probably benign	Het
Zfhx3	GC	GCCACAGCAAC	8: 109,682,720 (GRCm39)		probably benign	Het
Zfhx3	CAGCAGCA	CAGCAGCAAAAGCAGCA	8: 109,682,730 (GRCm39)		probably benign	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:5430401F13Rik	APN	6	131,529,555 (GRCm39)	missense	probably benign	0.14
R0866:5430401F13Rik	UTSW	6	131,529,742 (GRCm39)	missense	unknown
R1674:5430401F13Rik	UTSW	6	131,529,766 (GRCm39)	missense	unknown
R6374:5430401F13Rik	UTSW	6	131,529,892 (GRCm39)	missense	unknown
R6671:5430401F13Rik	UTSW	6	131,528,313 (GRCm39)	critical splice donor site	probably null
R7150:5430401F13Rik	UTSW	6	131,529,630 (GRCm39)	missense	probably benign	0.16
RF005:5430401F13Rik	UTSW	6	131,529,847 (GRCm39)	small insertion	probably benign
RF014:5430401F13Rik	UTSW	6	131,529,820 (GRCm39)	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131,529,824 (GRCm39)	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131,529,822 (GRCm39)	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131,529,819 (GRCm39)	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131,529,841 (GRCm39)	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131,529,818 (GRCm39)	small insertion	probably benign
RF029:5430401F13Rik	UTSW	6	131,529,858 (GRCm39)	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131,529,851 (GRCm39)	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131,529,850 (GRCm39)	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131,529,857 (GRCm39)	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131,529,855 (GRCm39)	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131,529,836 (GRCm39)	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131,529,864 (GRCm39)	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131,529,850 (GRCm39)	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131,529,847 (GRCm39)	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131,529,846 (GRCm39)	small insertion	probably benign
X0062:5430401F13Rik	UTSW	6	131,529,601 (GRCm39)	missense	probably benign	0.29
Z1177:5430401F13Rik	UTSW	6	131,529,684 (GRCm39)	missense	possibly damaging	0.66

Predicted Primers

PCR Primer
(F):5'- AGAATGGCCCACGTAGTAGAC -3'
(R):5'- ACTTGCTGCTGTGAGAAGGG -3'

Sequencing Primer
(F):5'- CTCTGATGATGACAACTTGGAAGTCC -3'
(R):5'- TTAAATGCTAGGTGGTGAGAATGGC -3'

Posted On

2019-12-04