Mutagenetix > Incidental Mutation

Incidental Mutation 'RF041:5430401F13Rik'

604818

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 #

RF041 (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)

AGGTGGCCAG to AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG at 131552894 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

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,881,276		probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,905,100		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,229		probably benign	Het
Arid1b	CGG	CGGTGG	17: 4,995,595		probably benign	Het
AY761185	CACTGTGGG	C	8: 20,943,912		probably null	Het
Btnl1	C	T	17: 34,381,368	T246M	probably benign	Het
Cdc40	C	T	10: 40,843,123	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cul9	CCT	CCTACT	17: 46,500,854		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,485,823		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,767,173		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,762,177		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 72,270,049		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,758		probably benign	Het
Gykl1	G	A	18: 52,694,416	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,570,613		probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,171,425		probably benign	Het
Kmt2c	TG	TGTTGCAG	5: 25,315,775		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 93,018,141		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,826		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,829		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,275,985		probably benign	Het
Med12l	GC	GCACC	3: 59,275,995		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,941,039		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Ngfr	CAGG	C	11: 95,587,511		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,627,579		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,627,593		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,627,607		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,785,332		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,732,868		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,614,866		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,631,021		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,833,576		probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,100		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,190,532		probably benign	Het
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,493,988		unknown	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
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'- AGTCCAGGATCACCAGAGTG -3'
(R):5'- ACTTGCTGCTGTGAGAAGGG -3'

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

Posted On

2019-12-04