Mutagenetix > Incidental Mutation

Incidental Mutation 'RF058:3110021N24Rik'

605324

Institutional Source

Beutler Lab

Gene Symbol

3110021N24Rik

Ensembl Gene

ENSMUSG00000094958

Gene Name

RIKEN cDNA 3110021N24 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

RF058 (G1)

Quality Score

214.526

Status

Not validated

Chromosome

Chromosomal Location

108576846-108639101 bp(+) (GRCm39)

Type of Mutation

small deletion (3 aa in frame mutation)

DNA Base Change (assembly)

GAGCGCGGCC to G at 108637826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000136370 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000106657] [ENSMUST00000106658] [ENSMUST00000178992]

AlphaFold

J3QMN2

Predicted Effect

probably benign
Transcript: ENSMUST00000106657

SMART Domains

Protein: ENSMUSP00000102268
Gene: ENSMUSG00000034557

Domain	Start	End	E-Value	Type
low complexity region	230	243	N/A	INTRINSIC
low complexity region	471	487	N/A	INTRINSIC
low complexity region	578	587	N/A	INTRINSIC
Blast:FYVE	590	618	7e-6	BLAST
FYVE	663	731	2.38e-26	SMART
Pfam:SARA	745	783	1.3e-22	PFAM
Pfam:DUF3480	1020	1372	1e-178	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106658

SMART Domains

Protein: ENSMUSP00000102269
Gene: ENSMUSG00000034557

Domain	Start	End	E-Value	Type
low complexity region	230	243	N/A	INTRINSIC
low complexity region	471	487	N/A	INTRINSIC
low complexity region	578	587	N/A	INTRINSIC
Blast:FYVE	590	618	8e-6	BLAST
FYVE	663	731	2.38e-26	SMART
Pfam:DUF3480	960	1313	5.5e-189	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178992

SMART Domains

Protein: ENSMUSP00000136370
Gene: ENSMUSG00000094958

Domain	Start	End	E-Value	Type
low complexity region	54	74	N/A	INTRINSIC
low complexity region	87	102	N/A	INTRINSIC
low complexity region	114	148	N/A	INTRINSIC

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: 22 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
5430401F13Rik	AAGGAAAAGGTGGCCAG	AAGGAAAAGGTGGCCAGCAAAAACAGAGAGGAAAAGGTGGCCAG	6: 131,529,850 (GRCm39)	probably benign	Het
5430401F13Rik	CAG	CAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,529,864 (GRCm39)	probably benign	Het
Alg9	GGC	GGCTGC	9: 50,686,727 (GRCm39)	probably benign	Het
Arid1b	CGGGGG	CGGGGGGGG	17: 5,045,858 (GRCm39)	probably benign	Het
Chd4	GC	GCTCCCTC	6: 125,099,094 (GRCm39)	probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,675 (GRCm39)	probably benign	Het
Cort	GCCCACTCGT	G	4: 149,209,869 (GRCm39)	probably benign	Het
Flywch1	GT	GTGGGGAGGCTACGTGCTCACCCGCTCCTGGTAT	17: 23,981,151 (GRCm39)	probably null	Het
Gab3	TCT	TCTACT	X: 74,043,608 (GRCm39)	probably benign	Het
Gabre	C	CCGGCTG	X: 71,313,669 (GRCm39)	probably benign	Het
Haus4	CACTTAAAAAAAAAA	CA	14: 54,787,492 (GRCm39)	probably benign	Het
Il2	CTTGAAGTGG	CTTGAAGTGGGGATTGAAGTGG	3: 37,179,970 (GRCm39)	probably benign	Het
Il2	AG	AGGGCTTGAAGTGG	3: 37,179,966 (GRCm39)	probably benign	Het
Kri1	TCCTCCTCC	TC	9: 21,192,362 (GRCm39)	probably null	Het
Krtap28-10	ACAGCCACCACAGCCACAGCCACCACAGC	ACAGCCACCACAGCCCCAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,983 (GRCm39)	probably benign	Het
Mbd1	CGTCTTCGTCTGCATCTGCATCTGCA	C	18: 74,406,680 (GRCm39)	probably null	Het
Nefh	CCTC	CCTCGCCTGGGGACTTGGACTC	11: 4,891,021 (GRCm39)	probably benign	Het
Rtbdn	GCAGCG	GCAGCGACAGCG	8: 85,682,801 (GRCm39)	probably benign	Het
Setd1a	GTGGTGGT	GTGGTGGTATTGGTGGT	7: 127,384,490 (GRCm39)	probably benign	Het
Treml1	ACCT	A	17: 48,666,975 (GRCm39)	probably null	Het
Triobp	CTCCCTGTGCCCAAC	CTCCCTGTGCCCAACTGAACAACCCCAGGATTCCCTGTGCCCAAC	15: 78,851,244 (GRCm39)	probably benign	Het
Zfp598	CCCACCACCACAACCACCACCACCACCACCAC	CCCACCACCACCACCACAACCACCACCACCACCACCAC	17: 24,899,735 (GRCm39)	probably benign	Het

Other mutations in 3110021N24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R9094:3110021N24Rik	UTSW	4	108,637,744 (GRCm39)	missense	unknown
RF019:3110021N24Rik	UTSW	4	108,637,827 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CAGCCCGATCTTCACGTACC -3'
(R):5'- AAAGGTGCTGGGGTCTGAC -3'

Sequencing Primer
(F):5'- GATCTTCACGTACCCGGCC -3'
(R):5'- GTTCCCTGCCGCTCGTG -3'

Posted On

2019-12-04