Mutagenetix > Incidental Mutation

Incidental Mutation 'RF037:5430401F13Rik'

604625

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 #

RF037 (G1)

Quality Score

172.468

Status

Not validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

small insertion (9 aa in frame mutation)

DNA Base Change (assembly)

AAGGAAAAGGTGGCCAG to AAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131552887 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: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	TGTC	T	17: 35,963,188		probably benign	Het
Ankrd24	GAGG	GAGGCAGAGGCTTAGG	10: 81,643,573		probably null	Het
Ckap2l	TGCA	T	2: 129,270,649		probably benign	Het
Cox7a2l	GGA	GGAGGGGGA	17: 83,502,722		probably benign	Het
Cpne1	TCCAC	TC	2: 156,073,510		probably benign	Het
Dnmt1	GGGGCGGAGCACAGTTCCTA	GGGGCGGAGCACAGTTCCTATCTCGTATTGTGGGCGGAGCACAGTTCCTA	9: 20,910,119		probably benign	Het
Dnmt1	TTCCTACCTCGTT	TTCCTACCTCGTTTTGGGGGCGGAGCATAGGTCCTACCTCGTT	9: 20,910,133		probably null	Het
Dnmt1	TCGTT	TCGTTTTGGGGGCTGAGCACAGTTCCTACCGCGTT	9: 20,910,141		probably null	Het
Ehbp1	ACTG	A	11: 22,006,783		probably benign	Het
Eml6	TCCTAAAAAAACAAAAC	TC	11: 29,752,549		probably benign	Het
Fbrsl1	G	GCGTGTGCTAGTA	5: 110,378,151		probably null	Het
Gabre	CTC	CTCCGGGTC	X: 72,270,061		probably benign	Het
Gm8369	GTG	GTGGGTATG	19: 11,511,782		probably benign	Het
Igf1r	GGAGATGGAGC	GGAGATGGAGCTTGAGATGGAGC	7: 68,226,176		probably benign	Het
Krtap28-10	ACAG	ACAGCCCCAG	1: 83,042,145		probably benign	Het
Krtap28-10	ACAGC	ACAGCCACAGCCACCCCAGC	1: 83,042,286		probably benign	Het
Lce1m	C	CCGCTGCTGCCAT	3: 93,018,300		probably benign	Het
Lrch1	CGTGGTGCTGGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	CGTGGTGTTGGTGGTGTTGGTGGTGCTGGTGG	14: 74,947,549		probably benign	Het
Map1a	AGCTCCAGCTCCAGCTCCAGCTCCA	AGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCA	2: 121,306,294		probably benign	Het
Mast4	CCTCGGGGACAAGCTGTGAGTTGGGGAAC	CC	13: 102,739,241		probably benign	Het
Med12l	GCAACA	GCAACAACA	3: 59,275,956		probably benign	Het
Nefh	TTGGCCTCAGCTGGGGACTTGGCCTCA	TTGGCCTCAGCTGGAGACTTGGCCTCAGCTGGGGACTTGGCCTCA	11: 4,940,999		probably benign	Het
Nefh	TGGGGACTTGG	TGGGGACTTGGACTCCCCGGGGGACTTGG	11: 4,941,046		probably benign	Het
Nefh	TGGC	TGGCGTCACCTGGGGACTGGGC	11: 4,941,054		probably benign	Het
Nusap1	AGCAGTGAGGAGCAAGCTGAGA	AGCAGTGAGGAGCAAGCTGAGATACACGTTCGCAGTGAGGAGCAAGCTGAGA	2: 119,627,589		probably benign	Het
Olfr1287	G	A	2: 111,449,551	G137D	not run	Het
Ren1	ACCGC	AC	1: 133,350,781		probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACAGAGATG	17: 23,945,384		probably benign	Het
Sbp	ATG	ATGCTGACAACAAAGCTG	17: 23,945,387		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGGGGGCTTG	6: 72,616,036		probably benign	Het
Thegl	CAAGGCCAG	CAAGGCCAGCGATCCTCCCCAGTCCCGAAAGGCCAG	5: 77,016,421		probably benign	Het
Ufl1	C	T	4: 25,280,628	R73Q	possibly damaging	Het
Zfhx3	CAGCAGCA	CAGCAGCAATAGCAGCA	8: 108,956,098		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	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'- AGAATGGCCCACGTAGTAGAC -3'
(R):5'- ACTTGCTGCTGTGAGAAGGG -3'

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

Posted On

2019-12-04