Mutagenetix > Incidental Mutation

Incidental Mutation 'R6830:4930503B20Rik'

534336

Institutional Source

Beutler Lab

Gene Symbol

4930503B20Rik

Ensembl Gene

ENSMUSG00000090202

Gene Name

RIKEN cDNA 4930503B20 gene

Synonyms

MMRRC Submission

044940-MU

Accession Numbers

Essential gene?

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

Stock #

R6830 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

146350948-146357072 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146356716 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 64 (D64G)

Ref Sequence

ENSEMBL: ENSMUSP00000114745 (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: D64G

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051453
Gene: ENSMUSG00000090202
AA Change: D64G

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

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: D64G

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114745
Gene: ENSMUSG00000090202
AA Change: D64G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amtn	T	C	5: 88,525,956 (GRCm39)	L40P	probably damaging	Het
Ano6	A	G	15: 95,792,342 (GRCm39)	R90G	probably damaging	Het
Arfgef3	A	C	10: 18,540,637 (GRCm39)		probably null	Het
Asxl3	C	T	18: 22,658,445 (GRCm39)	P2152S	probably benign	Het
Atp7b	A	T	8: 22,512,381 (GRCm39)	V494E	probably damaging	Het
Bik	T	A	15: 83,428,409 (GRCm39)	Y146N	probably benign	Het
C1qtnf7	A	T	5: 43,766,436 (GRCm39)	I12F	possibly damaging	Het
Cacna1e	A	G	1: 154,289,720 (GRCm39)		probably null	Het
Ccdc168	A	G	1: 44,095,890 (GRCm39)	V1736A	probably benign	Het
Ccnj	A	G	19: 40,833,636 (GRCm39)	E231G	probably damaging	Het
Cd101	T	C	3: 100,901,012 (GRCm39)	K1020R	probably benign	Het
Cdh6	C	A	15: 13,044,860 (GRCm39)	V421L	probably benign	Het
Cplane1	T	C	15: 8,205,668 (GRCm39)	S135P	probably benign	Het
Decr1	T	C	4: 15,924,355 (GRCm39)		probably null	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Dock9	G	A	14: 121,860,330 (GRCm39)	P866L	probably damaging	Het
Epx	A	G	11: 87,759,452 (GRCm39)	F546L	probably damaging	Het
Fat4	T	A	3: 39,035,966 (GRCm39)	M3206K	probably benign	Het
Fgb	T	C	3: 82,952,332 (GRCm39)	D179G	probably benign	Het
Gbgt1	A	G	2: 28,395,220 (GRCm39)	D286G	probably damaging	Het
Gpn1	T	A	5: 31,664,832 (GRCm39)	S285R	probably benign	Het
Htt	T	A	5: 34,991,670 (GRCm39)	Y1212N	possibly damaging	Het
Kcnj13	T	C	1: 87,314,745 (GRCm39)	K159R	probably damaging	Het
Ldb2	T	A	5: 44,699,199 (GRCm39)	I80F	probably damaging	Het
Macrod2	T	A	2: 140,294,602 (GRCm39)	N89K	probably damaging	Het
Mdga2	G	A	12: 66,769,775 (GRCm39)	R173C	probably damaging	Het
Mroh9	A	G	1: 162,903,935 (GRCm39)	F26L	probably benign	Het
Neil3	G	T	8: 54,052,514 (GRCm39)	N361K	probably benign	Het
Nepro	A	G	16: 44,551,720 (GRCm39)	R193G	probably damaging	Het
Or52d3	T	A	7: 104,229,447 (GRCm39)	I198N	probably damaging	Het
Pclo	A	T	5: 14,731,113 (GRCm39)	Q3205L	unknown	Het
Plekhm1	A	T	11: 103,267,715 (GRCm39)	I752N	probably damaging	Het
Podn	T	C	4: 107,878,614 (GRCm39)	T273A	possibly damaging	Het
Prep	T	A	10: 44,973,597 (GRCm39)	M235K	probably benign	Het
Ptprc	A	T	1: 137,999,993 (GRCm39)		probably null	Het
Reg2	A	G	6: 78,384,625 (GRCm39)	H119R	possibly damaging	Het
Rpe65	T	C	3: 159,319,805 (GRCm39)	V225A	probably benign	Het
Scn9a	T	C	2: 66,398,373 (GRCm39)	D79G	probably damaging	Het
Slc25a23	G	A	17: 57,360,804 (GRCm39)	R9*	probably null	Het
Snai3	A	G	8: 123,183,212 (GRCm39)	L111P	probably damaging	Het
Stk38	A	G	17: 29,218,981 (GRCm39)		probably null	Het
Stk38l	A	T	6: 146,668,269 (GRCm39)	I115F	possibly damaging	Het
Tmco6	T	A	18: 36,871,406 (GRCm39)		probably null	Het
Tollip	A	T	7: 141,452,451 (GRCm39)	M1K	probably null	Het
Trim40	T	C	17: 37,199,742 (GRCm39)	Y112C	possibly damaging	Het
Ttc27	T	A	17: 75,163,550 (GRCm39)	Y719*	probably null	Het
Ubald1	T	C	16: 4,697,584 (GRCm39)	D6G	probably damaging	Het
Vmn2r59	A	T	7: 41,693,171 (GRCm39)	S476R	probably benign	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zbtb21	C	T	16: 97,753,161 (GRCm39)	G402D	probably damaging	Het
Zfp84	A	G	7: 29,475,911 (GRCm39)	Y201C	probably benign	Het
Zswim2	T	A	2: 83,770,028 (GRCm39)	H62L	probably damaging	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
R6574:4930503B20Rik	UTSW	3	146,356,613 (GRCm39)	missense	probably benign	0.02
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'- AAAAGGTCTTCATCTTCAGTGACC -3'
(R):5'- CTGCATCTCAGTGGGACAAG -3'

Sequencing Primer
(F):5'- ATCTTCAGTGACCTTCTGGAAG -3'
(R):5'- CTATTACAAAGTACTAGGGGTGCCAC -3'

Posted On

2018-09-12