Mutagenetix > Incidental Mutation

Incidental Mutation 'RF061:2810004N23Rik'

605409

Institutional Source

Beutler Lab

Gene Symbol

2810004N23Rik

Ensembl Gene

ENSMUSG00000031984

Gene Name

RIKEN cDNA 2810004N23 gene

Synonyms

GtAyu21-55, Ayu21-55, Gt(Ayu21)55Imeg

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

RF061 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

125566094-125589768 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

ACTT to ACTTACTT at 125566570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034465]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000034465

SMART Domains

Protein: ENSMUSP00000034465
Gene: ENSMUSG00000031984

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:DUF4602	119	243	1e-32	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	GCCCACGACCC	GCCCACGACCCACGACCC	16: 56,447,950 (GRCm39)		probably null	Het
Ankhd1	GGCGGC	GGCGGCCGCGGC	18: 36,693,974 (GRCm39)		probably benign	Het
Ankrd24	GAGGC	GAGGCGGAGGCATAGGC	10: 81,479,401 (GRCm39)		probably null	Het
Bpifb4	A	ACCTCCAC	2: 153,799,048 (GRCm39)		probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,672 (GRCm39)		probably benign	Het
Chga	G	GCAC	12: 102,527,686 (GRCm39)		probably benign	Het
Cyb5r4	ACACTGCCCAGGGA	ACACTGCCCAGGGATGTGACAGACGCACTGCCCAGGGA	9: 86,922,488 (GRCm39)		probably benign	Het
Dnmt1	CAGTTCCTACCTCGTT	CAGTTCCTACCTCGTTTTGGGGGCGGAGCAAAGTTCCTACCTCGTT	9: 20,821,426 (GRCm39)		probably null	Het
Fbrsl1	GTGCTGGTGCGT	GTGCTGGTGCGTCTGCTGGTGCGT	5: 110,525,997 (GRCm39)		probably benign	Het
Gabre	GCTCCG	GCTCCGACTCCG	X: 71,313,654 (GRCm39)		probably benign	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCTG	4: 59,610,657 (GRCm39)		probably benign	Het
Il2	GGG	GGGGCTTGAAGTGGG	3: 37,179,990 (GRCm39)		probably benign	Het
Krtap28-10	CCACCACAGC	CCACCACAGCCACAGACACCACAGC	1: 83,020,002 (GRCm39)		probably benign	Het
Lrch1	GCTGGTGGT	G	14: 75,184,995 (GRCm39)		probably null	Het
Lrch1	GGTGGTGTTG	GG	14: 75,185,007 (GRCm39)		probably null	Het
Mamld1	AGC	AGCCGC	X: 70,162,456 (GRCm39)		probably benign	Het
Map1a	TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC	TGGCTCCAGCTCCAGCTCCAGCTCCAGCTCCGGCTCCAGCTCCAGCTCCAGCTCCAGCTCC	2: 121,136,768 (GRCm39)		probably benign	Het
Or10n7-ps1	GA	GATATA	9: 39,598,049 (GRCm39)		probably null	Het
Pdcd11	AGGAGGAGG	AG	19: 47,101,884 (GRCm39)		probably null	Het
Pknox2	ACACACACACACACACTCAC	ACAC	9: 36,820,905 (GRCm39)		probably benign	Het
Rfx5	A	T	3: 94,863,070 (GRCm39)	K54I	probably damaging	Het
Rps19	AAAAAAT	AAAAAATAAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rragd	CATGCCTTTCATTCTA	C	4: 32,995,150 (GRCm39)		probably benign	Het
Sbp	GACAACA	GACAACACAGATGCTAACAACA	17: 24,164,351 (GRCm39)		probably benign	Het
Stab2	CTGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	10: 86,702,622 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGGAG	17: 48,097,017 (GRCm39)		probably benign	Het
Trim33	GGCCCCCGC	GGC	3: 103,187,533 (GRCm39)		probably benign	Het
Zfp598	ACAACCAC	ACAACCACAACCAC	17: 24,899,744 (GRCm39)		probably benign	Het

Other mutations in 2810004N23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02977:2810004N23Rik	APN	8	125,587,930 (GRCm39)	missense	probably benign	0.01
IGL03390:2810004N23Rik	APN	8	125,566,564 (GRCm39)	utr 3 prime	probably benign
FR4342:2810004N23Rik	UTSW	8	125,566,572 (GRCm39)	frame shift	probably null
R0519:2810004N23Rik	UTSW	8	125,566,668 (GRCm39)	missense	possibly damaging	0.90
R1302:2810004N23Rik	UTSW	8	125,566,607 (GRCm39)	missense	probably damaging	1.00
R1349:2810004N23Rik	UTSW	8	125,587,992 (GRCm39)	missense	possibly damaging	0.93
R1640:2810004N23Rik	UTSW	8	125,566,584 (GRCm39)	missense	probably damaging	1.00
R6614:2810004N23Rik	UTSW	8	125,587,986 (GRCm39)	splice site	probably null
R7150:2810004N23Rik	UTSW	8	125,589,653 (GRCm39)	missense	possibly damaging	0.81
R7806:2810004N23Rik	UTSW	8	125,569,143 (GRCm39)	missense	probably benign
R9450:2810004N23Rik	UTSW	8	125,567,215 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATGCACAGGTAGCCATGTGTG -3'
(R):5'- AAGAGACCTGTGCAGCTGTG -3'

Sequencing Primer
(F):5'- AGCCATGTGTGTGCATTCC -3'
(R):5'- CACAAGGCAGGGAAGCTCC -3'

Posted On

2019-12-04