Mutagenetix > Incidental Mutation

Incidental Mutation 'R6574:4930503B20Rik'

523343

Institutional Source

Beutler Lab

Gene Symbol

4930503B20Rik

Ensembl Gene

ENSMUSG00000090202

Gene Name

RIKEN cDNA 4930503B20 gene

Synonyms

MMRRC Submission

044698-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6574 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

146350948-146357072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 146356613 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 98 (D98E)

Ref Sequence

ENSEMBL: ENSMUSP00000051453 (fasta)

Gene Model

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

AlphaFold

Q80ZP0

Predicted Effect

probably benign
Transcript: ENSMUST00000049703
AA Change: D98E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000051453
Gene: ENSMUSG00000090202
AA Change: D98E

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 benign
Transcript: ENSMUST00000149825
AA Change: D98E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000114745
Gene: ENSMUSG00000090202
AA Change: D98E

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

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154128

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	T	C	1: 90,141,790 (GRCm39)	I83T	probably damaging	Het
Ahnak	A	T	19: 8,994,411 (GRCm39)	M5232L	probably benign	Het
Ano1	A	C	7: 144,161,653 (GRCm39)		probably null	Het
Arap1	T	A	7: 101,053,208 (GRCm39)	I532N	probably damaging	Het
Bsn	A	G	9: 107,991,153 (GRCm39)	V1533A	possibly damaging	Het
Ccdc83	T	C	7: 89,875,885 (GRCm39)	S329G	possibly damaging	Het
Ccno	T	A	13: 113,124,719 (GRCm39)	D96E	probably benign	Het
Cpsf1	CCCCTGCATGAGGCAGGTCCC	CCCC	15: 76,481,655 (GRCm39)		probably null	Het
Degs1	T	C	1: 182,106,638 (GRCm39)	Y207C	probably damaging	Het
Dnah7a	A	T	1: 53,495,693 (GRCm39)		probably null	Het
Dnah9	C	T	11: 66,059,107 (GRCm39)	A63T	probably benign	Het
Eif4e1b	T	C	13: 54,932,711 (GRCm39)	F100S	probably damaging	Het
Eps8	A	T	6: 137,460,596 (GRCm39)	Y722*	probably null	Het
Etfa	A	T	9: 55,402,910 (GRCm39)	I96N	probably damaging	Het
Flt4	A	G	11: 49,516,199 (GRCm39)	T101A	probably benign	Het
Gabra4	A	G	5: 71,781,268 (GRCm39)	I381T	probably benign	Het
Gria2	A	G	3: 80,596,603 (GRCm39)	V821A	probably damaging	Het
Gss	G	T	2: 155,423,931 (GRCm39)	T51K	probably damaging	Het
Igkv13-84	C	A	6: 68,916,977 (GRCm39)	Y91*	probably null	Het
Iqcb1	A	T	16: 36,691,863 (GRCm39)	Q487H	probably damaging	Het
Itga8	G	A	2: 12,234,972 (GRCm39)	H429Y	probably benign	Het
Myo1c	T	G	11: 75,547,124 (GRCm39)		probably benign	Het
Odad2	C	A	18: 7,129,394 (GRCm39)		probably null	Het
Pcdhga5	T	C	18: 37,828,434 (GRCm39)	L294P	probably damaging	Het
Pkd2l2	T	C	18: 34,558,134 (GRCm39)	L271P	probably damaging	Het
Plcb2	T	C	2: 118,549,654 (GRCm39)	D290G	probably damaging	Het
Pmp22	C	T	11: 63,049,099 (GRCm39)	A114V	probably damaging	Het
Ppp1r15a	T	C	7: 45,173,533 (GRCm39)	D425G	probably benign	Het
Ppp2r3d	G	A	9: 101,071,584 (GRCm39)	P678L	probably benign	Het
Ptbp2	T	G	3: 119,541,596 (GRCm39)	Q147P	probably damaging	Het
Sez6l	A	G	5: 112,724,692 (GRCm39)	S15P	possibly damaging	Het
Slc25a10	T	C	11: 120,387,903 (GRCm39)	F199L	probably benign	Het
Slc4a8	A	G	15: 100,705,197 (GRCm39)	N801S	probably damaging	Het
Sucnr1	T	C	3: 59,994,020 (GRCm39)	Y183H	probably damaging	Het
Tmem67	T	C	4: 12,063,086 (GRCm39)	D520G	possibly damaging	Het
Trgc3	G	T	13: 19,445,293 (GRCm39)	R80S	probably benign	Het
Trrap	G	T	5: 144,752,360 (GRCm39)		probably null	Het
Tubgcp5	C	T	7: 55,473,331 (GRCm39)	P803L	probably benign	Het
Ubash3a	A	T	17: 31,451,370 (GRCm39)	Q423L	probably damaging	Het
Ucp1	G	A	8: 84,020,718 (GRCm39)		probably null	Het
Vmn2r94	G	T	17: 18,476,421 (GRCm39)	N425K	probably damaging	Het
Vps52	A	G	17: 34,181,452 (GRCm39)	M418V	probably null	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
R3896:4930503B20Rik	UTSW	3	146,356,868 (GRCm39)	missense	possibly damaging	0.88
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
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'- GTAGAAAATCCTGTGTCCATGATG -3'
(R):5'- AGCTTTCCATCAGCTGGCTC -3'

Sequencing Primer
(F):5'- TCCATGATGGGGGTGACAG -3'
(R):5'- ATCAGCTGGCTCTGCAGGTAC -3'

Posted On

2018-06-22