Mutagenetix > Incidental Mutation

Incidental Mutation 'R3896:4930503B20Rik'

310531

Institutional Source

Beutler Lab

Gene Symbol

4930503B20Rik

Ensembl Gene

ENSMUSG00000090202

Gene Name

RIKEN cDNA 4930503B20 gene

Synonyms

MMRRC Submission

040807-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R3896 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

146350948-146357072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 146356868 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 13 (N13K)

Ref Sequence

ENSEMBL: ENSMUSP00000051453 (fasta)

Gene Model

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

AlphaFold

Q80ZP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000049703
AA Change: N13K

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051453
Gene: ENSMUSG00000090202
AA Change: N13K

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

possibly damaging
Transcript: ENSMUST00000149825
AA Change: N13K

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114745
Gene: ENSMUSG00000090202
AA Change: N13K

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alas1	G	T	9: 106,119,000 (GRCm39)		probably null	Het
Arhgap20	A	T	9: 51,728,137 (GRCm39)	I117F	probably damaging	Het
Asz1	A	G	6: 18,075,766 (GRCm39)	I269T	probably benign	Het
Atp8a2	C	A	14: 60,263,589 (GRCm39)		probably null	Het
Atp8b2	A	T	3: 89,864,626 (GRCm39)	I163K	probably damaging	Het
Casd1	T	A	6: 4,640,980 (GRCm39)	F700L	probably damaging	Het
Ccdc80	A	G	16: 44,916,984 (GRCm39)	D580G	probably benign	Het
Cog7	C	T	7: 121,540,392 (GRCm39)		probably benign	Het
Cyp2c66	T	C	19: 39,130,722 (GRCm39)	V112A	possibly damaging	Het
D130040H23Rik	T	A	8: 69,755,610 (GRCm39)	C356S	probably damaging	Het
Emb	A	G	13: 117,409,598 (GRCm39)	*331W	probably null	Het
Enpp3	A	C	10: 24,653,847 (GRCm39)	S703R	possibly damaging	Het
Fam13b	T	C	18: 34,596,008 (GRCm39)		probably benign	Het
Foxp1	T	A	6: 99,052,897 (GRCm39)	Q97L	probably benign	Het
Gdf10	A	T	14: 33,656,438 (GRCm39)	N467Y	probably damaging	Het
Gm29394	C	T	15: 57,912,024 (GRCm39)		probably benign	Het
Gsn	T	C	2: 35,192,650 (GRCm39)	S522P	possibly damaging	Het
Hydin	T	A	8: 111,235,711 (GRCm39)	F1899I	possibly damaging	Het
Ints1	C	A	5: 139,743,399 (GRCm39)	E1658*	probably null	Het
Jakmip2	A	T	18: 43,682,751 (GRCm39)	F691Y	probably benign	Het
Klhl28	A	G	12: 65,004,333 (GRCm39)	F60S	probably damaging	Het
Loxhd1	C	T	18: 77,469,719 (GRCm39)	S992L	possibly damaging	Het
Lrp1b	A	T	2: 40,812,440 (GRCm39)		probably null	Het
Macf1	A	T	4: 123,364,987 (GRCm39)	I3258N	possibly damaging	Het
Map4k2	G	T	19: 6,391,958 (GRCm39)	E91*	probably null	Het
Matcap1	T	A	8: 106,009,920 (GRCm39)	H343L	probably benign	Het
Myo1b	A	T	1: 51,812,420 (GRCm39)	V739E	probably damaging	Het
Naa35	C	T	13: 59,755,109 (GRCm39)	T185I	probably damaging	Het
Or10v9	T	C	19: 11,832,951 (GRCm39)	D122G	probably damaging	Het
Or4c15b	A	G	2: 89,113,441 (GRCm39)	F33S	possibly damaging	Het
Reg4	A	T	3: 98,132,082 (GRCm39)		probably benign	Het
Rnaseh2b	A	C	14: 62,597,906 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,946,302 (GRCm39)		probably benign	Het
Scn8a	A	T	15: 100,933,379 (GRCm39)	M1528L	probably benign	Het
Sdr16c5	T	A	4: 4,006,609 (GRCm39)	T228S	probably damaging	Het
Sgo2a	T	C	1: 58,052,805 (GRCm39)	C202R	probably damaging	Het
Slc25a46	A	G	18: 31,716,725 (GRCm39)	L259P	probably damaging	Het
Slc4a4	A	G	5: 89,345,625 (GRCm39)		probably benign	Het
Sox14	G	T	9: 99,757,636 (GRCm39)	H34Q	probably damaging	Het
Syna	T	A	5: 134,587,165 (GRCm39)	K595*	probably null	Het
Taf4	A	G	2: 179,573,807 (GRCm39)	V687A	probably benign	Het
Tmbim7	C	T	5: 3,711,916 (GRCm39)	H54Y	probably benign	Het
Vmn1r212	T	C	13: 23,068,067 (GRCm39)	M89V	probably benign	Het
Vmn1r86	T	C	7: 12,836,093 (GRCm39)	Y261C	probably benign	Het
Xkr4	A	G	1: 3,286,414 (GRCm39)	I592T	probably damaging	Het
Ywhah	A	G	5: 33,184,349 (GRCm39)	Y184C	probably damaging	Het
Zkscan16	C	T	4: 58,946,125 (GRCm39)		probably benign	Het

Other mutations in 4930503B20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0211:4930503B20Rik	UTSW	3	146,356,251 (GRCm39)	missense	probably benign
R1131:4930503B20Rik	UTSW	3	146,356,837 (GRCm39)	missense	probably damaging	1.00
R1523:4930503B20Rik	UTSW	3	146,356,864 (GRCm39)	missense	probably damaging	1.00
R2281:4930503B20Rik	UTSW	3	146,352,179 (GRCm39)	missense	probably damaging	0.99
R2520:4930503B20Rik	UTSW	3	146,356,261 (GRCm39)	missense	probably damaging	0.99
R4300:4930503B20Rik	UTSW	3	146,356,675 (GRCm39)	nonsense	probably null
R5196:4930503B20Rik	UTSW	3	146,352,018 (GRCm39)	utr 3 prime	probably benign
R5394:4930503B20Rik	UTSW	3	146,356,713 (GRCm39)	missense	probably damaging	1.00
R5394:4930503B20Rik	UTSW	3	146,356,363 (GRCm39)	missense	probably damaging	1.00
R5645:4930503B20Rik	UTSW	3	146,356,264 (GRCm39)	missense	probably damaging	0.98
R5894:4930503B20Rik	UTSW	3	146,356,680 (GRCm39)	missense	probably benign	0.40
R6574:4930503B20Rik	UTSW	3	146,356,613 (GRCm39)	missense	probably benign	0.02
R6830:4930503B20Rik	UTSW	3	146,356,716 (GRCm39)	missense	possibly damaging	0.90
R7604:4930503B20Rik	UTSW	3	146,356,415 (GRCm39)	nonsense	probably null
R9771:4930503B20Rik	UTSW	3	146,356,743 (GRCm39)	missense	possibly damaging	0.73
Z1176:4930503B20Rik	UTSW	3	146,356,711 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTTCGGTTCCATCGGGAC -3'
(R):5'- TGAAGGTTCAATTCGCTGAAGAG -3'

Sequencing Primer
(F):5'- ATCGGGACCTGTCGTAATCC -3'
(R):5'- TCGCTGAAGAGGAATTTCTCC -3'

Posted On

2015-04-17