Mutagenetix > Incidental Mutation

Incidental Mutation 'R8550:4930402F06Rik'

659811

Institutional Source

Beutler Lab

Gene Symbol

4930402F06Rik

Ensembl Gene

ENSMUSG00000079421

Gene Name

RIKEN cDNA 4930402F06 gene

Synonyms

MMRRC Submission

068515-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8550 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35265574-35287187 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 35265786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 295 (K295*)

Ref Sequence

ENSEMBL: ENSMUSP00000108633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000113009] [ENSMUST00000113010]

AlphaFold

A2AUQ8

Predicted Effect

probably null
Transcript: ENSMUST00000113009
AA Change: K264*

SMART Domains

Protein: ENSMUSP00000108632
Gene: ENSMUSG00000079421
AA Change: K264*

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_6	4	299	4.7e-130	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000113010
AA Change: K295*

SMART Domains

Protein: ENSMUSP00000108633
Gene: ENSMUSG00000079421
AA Change: K295*

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:Glyco_transf_6	37	330	1.2e-124	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (39/39)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	A	T	9: 21,451,882 (GRCm39)	D146V	probably damaging	Het
Adgrl3	A	T	5: 81,942,599 (GRCm39)	T1469S	possibly damaging	Het
Anxa7	G	A	14: 20,506,593 (GRCm39)	T449M	probably damaging	Het
Birc6	T	G	17: 74,864,949 (GRCm39)	S236R	probably benign	Het
C1qc	C	T	4: 136,617,587 (GRCm39)	V170I	possibly damaging	Het
Ccl25	A	G	8: 4,377,890 (GRCm39)	E50G	possibly damaging	Het
Clk1	A	T	1: 58,451,835 (GRCm39)	Y427N	probably damaging	Het
Cul9	C	A	17: 46,830,772 (GRCm39)	C1707F	probably damaging	Het
Cyp4f17	G	A	17: 32,746,936 (GRCm39)	V413I	probably benign	Het
Ddc	A	G	11: 11,785,743 (GRCm39)	W315R	probably damaging	Het
Degs1l	A	T	1: 180,887,324 (GRCm39)	D303V	probably damaging	Het
Eif1ad15	T	C	12: 88,290,652 (GRCm39)		probably benign	Het
Eogt	A	C	6: 97,089,033 (GRCm39)	H524Q	probably benign	Het
Eya4	G	A	10: 22,982,157 (GRCm39)	H601Y	probably damaging	Het
Hexa	G	A	9: 59,468,182 (GRCm39)	A270T	probably benign	Het
Hmcn2	T	C	2: 31,240,654 (GRCm39)		probably null	Het
Ighv5-17	A	T	12: 113,822,904 (GRCm39)	S72R	possibly damaging	Het
Itgad	A	G	7: 127,803,064 (GRCm39)	T7A	probably damaging	Het
Mapk8	A	T	14: 33,124,615 (GRCm39)	I139N	probably damaging	Het
Metap1	G	A	3: 138,172,077 (GRCm39)	A280V	possibly damaging	Het
Mrpl35	T	C	6: 71,793,259 (GRCm39)	K131E	probably damaging	Het
Neb	A	G	2: 52,188,924 (GRCm39)	V802A	probably benign	Het
Nlrp3	T	G	11: 59,440,097 (GRCm39)	V558G	probably damaging	Het
Nr3c1	A	T	18: 39,619,842 (GRCm39)	N148K	possibly damaging	Het
Or3a1c	A	C	11: 74,046,015 (GRCm39)	I12L	probably benign	Het
Padi6	T	C	4: 140,460,014 (GRCm39)	K359R	probably benign	Het
Rexo5	A	G	7: 119,400,568 (GRCm39)	T118A	probably benign	Het
Serpine1	A	G	5: 137,092,352 (GRCm39)	V385A	probably damaging	Het
Slc25a25	A	G	2: 32,306,205 (GRCm39)	I485T	probably damaging	Het
Slc26a3	A	T	12: 31,511,739 (GRCm39)	L441F	probably damaging	Het
Spta1	A	T	1: 174,014,774 (GRCm39)	D418V	probably damaging	Het
Supt20	T	C	3: 54,623,063 (GRCm39)	V511A	possibly damaging	Het
Tfap2a	T	C	13: 40,882,225 (GRCm39)	T21A	probably damaging	Het
Tia1	A	G	6: 86,402,684 (GRCm39)	M232V	probably benign	Het
Tmem132a	T	C	19: 10,837,745 (GRCm39)	T522A	probably benign	Het
Top2a	A	T	11: 98,886,744 (GRCm39)	D1336E	probably benign	Het
Trav3-1	A	C	14: 52,818,390 (GRCm39)	R21S	probably benign	Het
Utrn	C	A	10: 12,689,329 (GRCm39)		probably benign	Het
Vmn1r119	A	T	7: 20,745,980 (GRCm39)	V134D	probably benign	Het
Zfta	T	C	19: 7,400,320 (GRCm39)	M262T	probably benign	Het

Other mutations in 4930402F06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00786:4930402F06Rik	APN	2	35,265,851 (GRCm39)	missense	probably benign	0.05
IGL00805:4930402F06Rik	APN	2	35,270,422 (GRCm39)	missense	probably damaging	1.00
IGL01647:4930402F06Rik	APN	2	35,266,097 (GRCm39)	missense	probably damaging	1.00
IGL01927:4930402F06Rik	APN	2	35,266,026 (GRCm39)	missense	probably damaging	1.00
IGL02315:4930402F06Rik	APN	2	35,266,185 (GRCm39)	missense	probably damaging	1.00
IGL02563:4930402F06Rik	APN	2	35,270,410 (GRCm39)	missense	probably damaging	1.00
IGL02655:4930402F06Rik	APN	2	35,270,498 (GRCm39)	missense	possibly damaging	0.70
IGL03341:4930402F06Rik	APN	2	35,265,906 (GRCm39)	missense	possibly damaging	0.76
R0102:4930402F06Rik	UTSW	2	35,265,795 (GRCm39)	nonsense	probably null
R0102:4930402F06Rik	UTSW	2	35,265,795 (GRCm39)	nonsense	probably null
R0309:4930402F06Rik	UTSW	2	35,266,271 (GRCm39)	missense	possibly damaging	0.90
R0556:4930402F06Rik	UTSW	2	35,280,482 (GRCm39)	splice site	probably benign
R2089:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2091:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2091:4930402F06Rik	UTSW	2	35,266,079 (GRCm39)	missense	probably benign	0.00
R2158:4930402F06Rik	UTSW	2	35,275,680 (GRCm39)	missense	possibly damaging	0.94
R4027:4930402F06Rik	UTSW	2	35,270,408 (GRCm39)	missense	probably damaging	1.00
R4897:4930402F06Rik	UTSW	2	35,266,309 (GRCm39)	missense	probably damaging	1.00
R7755:4930402F06Rik	UTSW	2	35,266,349 (GRCm39)	missense	probably damaging	1.00
R8129:4930402F06Rik	UTSW	2	35,266,187 (GRCm39)	missense	probably damaging	1.00
R8143:4930402F06Rik	UTSW	2	35,265,884 (GRCm39)	missense	probably damaging	1.00
R8309:4930402F06Rik	UTSW	2	35,279,599 (GRCm39)	missense	possibly damaging	0.67
X0024:4930402F06Rik	UTSW	2	35,279,617 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- TTGTCAGAATATGCCAGCTGC -3'
(R):5'- GAACAAGTCATCAGAAGCGTAC -3'

Sequencing Primer
(F):5'- ATGCCAGCTGCTAATTTTCCAAG -3'
(R):5'- TCATCAGAAGCGTACATAGCAG -3'

Posted On

2021-01-18