Mutagenetix > Incidental Mutation

Incidental Mutation 'R1131:4930503B20Rik'

94595

Institutional Source

Beutler Lab

Gene Symbol

4930503B20Rik

Ensembl Gene

ENSMUSG00000090202

Gene Name

RIKEN cDNA 4930503B20 gene

Synonyms

MMRRC Submission

039204-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1131 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146645193-146651317 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 146651082 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 24 (H24N)

Ref Sequence

ENSEMBL: ENSMUSP00000051453 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049703] [ENSMUST00000124931] [ENSMUST00000125965] [ENSMUST00000147113] [ENSMUST00000149825] [ENSMUST00000197989]

AlphaFold

Q80ZP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000049703
AA Change: H24N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000051453
Gene: ENSMUSG00000090202
AA Change: H24N

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.21e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124931

SMART Domains

Protein: ENSMUSP00000118464
Gene: ENSMUSG00000048652

Domain	Start	End	E-Value	Type
SAM	28	94	3.66e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125965

SMART Domains

Protein: ENSMUSP00000119608
Gene: ENSMUSG00000048652

Domain	Start	End	E-Value	Type
SAM	28	94	3.66e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141199

Predicted Effect

probably benign
Transcript: ENSMUST00000147113

SMART Domains

Protein: ENSMUSP00000118934
Gene: ENSMUSG00000048652

Domain	Start	End	E-Value	Type
SAM	28	94	3.66e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000149825
AA Change: H24N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114745
Gene: ENSMUSG00000090202
AA Change: H24N

Domain	Start	End	E-Value	Type
DnaJ	2	61	1.21e-30	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154128

Predicted Effect

probably benign
Transcript: ENSMUST00000197989

SMART Domains

Protein: ENSMUSP00000143496
Gene: ENSMUSG00000048652

Domain	Start	End	E-Value	Type
SAM	9	75	2.2e-4	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano7	T	C	1: 93,401,776	F723L	probably benign	Het
Clec9a	T	G	6: 129,410,315	C44W	probably damaging	Het
Commd7	T	A	2: 153,622,127	Q44L	probably benign	Het
Ddias	A	T	7: 92,859,886	S274T	possibly damaging	Het
Fnip1	A	T	11: 54,493,303	E342V	possibly damaging	Het
Gata4	A	G	14: 63,204,740	F210S	possibly damaging	Het
Ggt6	A	G	11: 72,435,680	E21G	possibly damaging	Het
Gzf1	A	G	2: 148,690,867	N647S	probably benign	Het
Hnrnpk	T	C	13: 58,394,165		probably null	Het
Lgr6	G	A	1: 134,987,304	R569W	probably damaging	Het
Mug1	T	A	6: 121,861,185	I458N	probably benign	Het
Mzf1	C	A	7: 13,052,771	R124L	possibly damaging	Het
Olfr559	C	A	7: 102,723,680	R270L	probably damaging	Het
Spta1	T	A	1: 174,185,647	S375T	probably damaging	Het
Tanc2	G	A	11: 105,835,002	E331K	probably damaging	Het
Tcirg1	A	G	19: 3,896,301	S799P	probably damaging	Het
Tnrc18	T	A	5: 142,787,208	D439V	unknown	Het
Tnrc6b	A	T	15: 80,894,453	Q1209L	possibly damaging	Het
Trim24	T	A	6: 37,957,782	C811S	probably damaging	Het
Ttc7b	A	T	12: 100,382,119		probably null	Het
Vmn1r42	A	T	6: 89,845,569	F6Y	possibly damaging	Het

Other mutations in 4930503B20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:4930503B20Rik	UTSW	3	146650496	missense	probably benign
R1523:4930503B20Rik	UTSW	3	146651109	missense	probably damaging	1.00
R2281:4930503B20Rik	UTSW	3	146646424	missense	probably damaging	0.99
R2520:4930503B20Rik	UTSW	3	146650506	missense	probably damaging	0.99
R3896:4930503B20Rik	UTSW	3	146651113	missense	possibly damaging	0.88
R4300:4930503B20Rik	UTSW	3	146650920	nonsense	probably null
R5196:4930503B20Rik	UTSW	3	146646263	utr 3 prime	probably benign
R5394:4930503B20Rik	UTSW	3	146650608	missense	probably damaging	1.00
R5394:4930503B20Rik	UTSW	3	146650958	missense	probably damaging	1.00
R5645:4930503B20Rik	UTSW	3	146650509	missense	probably damaging	0.98
R5894:4930503B20Rik	UTSW	3	146650925	missense	probably benign	0.40
R6574:4930503B20Rik	UTSW	3	146650858	missense	probably benign	0.02
R6830:4930503B20Rik	UTSW	3	146650961	missense	possibly damaging	0.90
R7604:4930503B20Rik	UTSW	3	146650660	nonsense	probably null
Z1176:4930503B20Rik	UTSW	3	146650956	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGTCGTTAACTCTGATGGTCTCC -3'
(R):5'- CGTGTGAAGGTTCAATTCGCTGAAG -3'

Sequencing Primer
(F):5'- AACTCTGATGGTCTCCCCTTTG -3'
(R):5'- GAATTTCTCCACCAGAAGAGGC -3'

Posted On

2014-01-05