Mutagenetix > Incidental Mutation

Incidental Mutation 'R4226:4930449I24Rik'

320036

Institutional Source

Beutler Lab

Gene Symbol

4930449I24Rik

Ensembl Gene

ENSMUSG00000079093

Gene Name

RIKEN cDNA 4930449I24 gene

Synonyms

MMRRC Submission

041046-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R4226 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146439209-146441993 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 146441690 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 279 (V279E)

Ref Sequence

ENSEMBL: ENSMUSP00000106228 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110598]

AlphaFold

Q9D5E3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110598
AA Change: V279E

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000106228
Gene: ENSMUSG00000079093
AA Change: V279E

Domain	Start	End	E-Value	Type
RasGEFN	66	181	2.8e-4	SMART
low complexity region	269	291	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	C	5: 137,289,152 (GRCm39)	V286A	possibly damaging	Het
Amotl1	T	C	9: 14,504,974 (GRCm39)	N115S	probably benign	Het
Aoah	A	T	13: 21,163,696 (GRCm39)	Y333F	possibly damaging	Het
Ap4m1	A	T	5: 138,171,079 (GRCm39)	R74*	probably null	Het
Arhgef5	C	T	6: 43,256,432 (GRCm39)	A1180V	probably damaging	Het
Birc6	T	C	17: 74,926,835 (GRCm39)		probably null	Het
Capn11	A	G	17: 45,953,392 (GRCm39)		probably null	Het
Ccdc146	T	A	5: 21,527,756 (GRCm39)	I187L	probably benign	Het
Cfh	A	T	1: 140,036,664 (GRCm39)	C360S	probably damaging	Het
Csmd1	T	C	8: 16,050,490 (GRCm39)	N2249D	probably damaging	Het
Cyb5r4	T	G	9: 86,939,282 (GRCm39)	I355S	probably damaging	Het
Dnm1l	A	T	16: 16,132,251 (GRCm39)	H653Q	possibly damaging	Het
Frmd4a	C	T	2: 4,337,889 (GRCm39)	R32C	probably benign	Het
Gm16503	C	T	4: 147,625,725 (GRCm39)	S73L	unknown	Het
Hnrnpll	A	T	17: 80,357,234 (GRCm39)		probably null	Het
Igf1r	T	A	7: 67,844,826 (GRCm39)	Y866*	probably null	Het
Lct	T	C	1: 128,231,963 (GRCm39)	M629V	probably damaging	Het
Mc1r	A	G	8: 124,134,595 (GRCm39)	N116S	possibly damaging	Het
Micu2	T	C	14: 58,169,742 (GRCm39)	K203E	possibly damaging	Het
Mybpc1	C	T	10: 88,409,387 (GRCm39)	W36*	probably null	Het
Nsd1	C	T	13: 55,408,214 (GRCm39)	T1286I	probably damaging	Het
Or2a56	A	G	6: 42,932,689 (GRCm39)	T86A	probably benign	Het
Or51l14	T	C	7: 103,100,784 (GRCm39)	M80T	probably benign	Het
Pnpla3	C	A	15: 84,063,391 (GRCm39)	N256K	probably benign	Het
Polh	A	G	17: 46,483,520 (GRCm39)	S582P	probably benign	Het
Rnaseh2a	G	A	8: 85,686,702 (GRCm39)	T149I	possibly damaging	Het
Ryr1	A	C	7: 28,761,576 (GRCm39)	Y3190*	probably null	Het
Sec31b	T	A	19: 44,520,149 (GRCm39)	M212L	probably benign	Het
Smc4	A	G	3: 68,938,800 (GRCm39)	E950G	probably benign	Het
Tlr1	A	T	5: 65,083,060 (GRCm39)	S506T	probably damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tmem236	G	T	2: 14,179,437 (GRCm39)	E13*	probably null	Het
Tmprss6	C	T	15: 78,330,899 (GRCm39)	V43M	probably damaging	Het
Vegfc	A	G	8: 54,612,445 (GRCm39)	Y156C	probably damaging	Het
Vmn1r39	T	C	6: 66,781,703 (GRCm39)	H205R	possibly damaging	Het
Wnk2	C	T	13: 49,244,313 (GRCm39)	D508N	probably damaging	Het
Zan	T	C	5: 137,422,240 (GRCm39)	N2793D	unknown	Het

Other mutations in 4930449I24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4431001:4930449I24Rik	UTSW	5	146,439,322 (GRCm39)	missense	probably benign	0.08
R2127:4930449I24Rik	UTSW	5	146,441,752 (GRCm39)	missense	possibly damaging	0.68
R5319:4930449I24Rik	UTSW	5	146,441,506 (GRCm39)	missense	probably benign	0.08
R6314:4930449I24Rik	UTSW	5	146,441,702 (GRCm39)	missense	possibly damaging	0.91
R6679:4930449I24Rik	UTSW	5	146,441,750 (GRCm39)	missense	probably damaging	0.99
R6894:4930449I24Rik	UTSW	5	146,441,543 (GRCm39)	missense	probably benign	0.04
R6894:4930449I24Rik	UTSW	5	146,441,542 (GRCm39)	missense	possibly damaging	0.85
R7879:4930449I24Rik	UTSW	5	146,439,662 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- CTTCTGAGACAGAGCCACAG -3'
(R):5'- GATGCAGTCCACAGGTAAAAC -3'

Sequencing Primer
(F):5'- CAGGGAGACAAGCAACACCG -3'
(R):5'- GTATCACTGGAGAAAATAACGATGTC -3'

Posted On

2015-06-12