Mutagenetix > Incidental Mutation

Incidental Mutation 'R6935:4930596D02Rik'

540268

Institutional Source

Beutler Lab

Gene Symbol

4930596D02Rik

Ensembl Gene

ENSMUSG00000041068

Gene Name

RIKEN cDNA 4930596D02 gene

Synonyms

MMRRC Submission

045008-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R6935 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35531445-35533935 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35533864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 14 (H14L)

Ref Sequence

ENSEMBL: ENSMUSP00000039186 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043266]

AlphaFold

Q3V0H9

Predicted Effect

probably benign
Transcript: ENSMUST00000043266
AA Change: H14L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000039186
Gene: ENSMUSG00000041068
AA Change: H14L

Domain	Start	End	E-Value	Type
low complexity region	19	30	N/A	INTRINSIC
RasGEFN	64	186	8.6e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.1%
20x: 97.2%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,654,525 (GRCm39)	N368D	probably benign	Het
Adcy10	T	C	1: 165,334,204 (GRCm39)	V71A	probably benign	Het
Ank1	C	T	8: 23,598,247 (GRCm39)	T755I	probably damaging	Het
Aoc1	A	T	6: 48,885,161 (GRCm39)	Y632F	probably damaging	Het
Bbc3	A	G	7: 16,046,124 (GRCm39)	D20G	possibly damaging	Het
Bche	T	G	3: 73,609,133 (GRCm39)	I98L	probably benign	Het
Cfap97d2	CA	CAA	8: 13,784,865 (GRCm39)		probably null	Het
Col12a1	A	G	9: 79,607,782 (GRCm39)	Y349H	possibly damaging	Het
Crip2	T	C	12: 113,104,213 (GRCm39)	C8R	probably damaging	Het
Dhx58	T	A	11: 100,589,232 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,312,567 (GRCm39)	R4333C	probably damaging	Het
Dnajb12	T	C	10: 59,732,325 (GRCm39)		probably null	Het
Dzank1	T	C	2: 144,318,014 (GRCm39)	E718G	possibly damaging	Het
Erfl	C	A	7: 24,627,986 (GRCm39)	G181V	possibly damaging	Het
Fbxo28	C	T	1: 182,169,025 (GRCm39)	G38R	unknown	Het
Foxb2	A	G	19: 16,849,983 (GRCm39)	F341S	probably benign	Het
Gabrb3	T	A	7: 57,241,561 (GRCm39)	I29N	probably damaging	Het
Gm7298	G	A	6: 121,744,653 (GRCm39)	R557H	probably benign	Het
Itih3	T	A	14: 30,634,659 (GRCm39)	Q116L	possibly damaging	Het
Lingo1	T	C	9: 56,527,149 (GRCm39)	Y480C	probably damaging	Het
Lypd3	G	C	7: 24,337,858 (GRCm39)	G75R	probably damaging	Het
Mbd5	A	G	2: 49,169,824 (GRCm39)	Y113C	probably damaging	Het
Mcm3ap	C	T	10: 76,340,087 (GRCm39)	P1453S	possibly damaging	Het
Mdn1	T	G	4: 32,774,041 (GRCm39)	F5551V	possibly damaging	Het
Myo16	T	A	8: 10,619,820 (GRCm39)	M1457K	probably benign	Het
Nbeal2	T	A	9: 110,468,459 (GRCm39)	E372V	probably damaging	Het
Ncam2	T	A	16: 81,323,879 (GRCm39)	S508T	probably benign	Het
Nebl	A	T	2: 17,353,637 (GRCm39)	D971E	probably damaging	Het
Nlrp10	A	T	7: 108,526,107 (GRCm39)	M77K	probably damaging	Het
Nynrin	T	G	14: 56,101,335 (GRCm39)	S335A	probably benign	Het
Or2y1d	A	G	11: 49,321,825 (GRCm39)	N174S	probably damaging	Het
Or52ad1	A	T	7: 102,996,002 (GRCm39)	N44K	probably damaging	Het
Or8c18	G	T	9: 38,203,413 (GRCm39)	M57I	probably benign	Het
Pidd1	A	T	7: 141,020,215 (GRCm39)	D570E	probably damaging	Het
Ppfia3	T	C	7: 45,001,631 (GRCm39)	D427G	possibly damaging	Het
Prex1	T	C	2: 166,441,575 (GRCm39)	Y364C	probably damaging	Het
Prlr	A	G	15: 10,319,388 (GRCm39)	S142G	probably damaging	Het
Rack1	T	C	11: 48,694,322 (GRCm39)	V174A	probably damaging	Het
Rhbdl3	C	T	11: 80,228,322 (GRCm39)	A264V	probably damaging	Het
Sh3bp5	T	A	14: 31,101,473 (GRCm39)	M170L	probably damaging	Het
Skint5	A	T	4: 113,799,793 (GRCm39)	F125L	possibly damaging	Het
Slc6a4	T	C	11: 76,917,994 (GRCm39)	Y579H	probably benign	Het
Tmem106b	A	T	6: 13,081,554 (GRCm39)	T154S	possibly damaging	Het
Xrcc5	A	G	1: 72,382,189 (GRCm39)	D455G	possibly damaging	Het

Other mutations in 4930596D02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:4930596D02Rik	APN	14	35,532,170 (GRCm39)	missense	possibly damaging	0.95
IGL01622:4930596D02Rik	APN	14	35,532,024 (GRCm39)	nonsense	probably null
IGL01623:4930596D02Rik	APN	14	35,532,024 (GRCm39)	nonsense	probably null
IGL02049:4930596D02Rik	APN	14	35,533,535 (GRCm39)	missense	probably benign	0.19
IGL02275:4930596D02Rik	APN	14	35,533,880 (GRCm39)	missense	probably benign	0.44
IGL02668:4930596D02Rik	APN	14	35,532,074 (GRCm39)	missense	probably benign	0.02
IGL02684:4930596D02Rik	APN	14	35,532,020 (GRCm39)	nonsense	probably null
R0178:4930596D02Rik	UTSW	14	35,533,435 (GRCm39)	missense	probably benign	0.44
R0601:4930596D02Rik	UTSW	14	35,532,146 (GRCm39)	missense	probably damaging	1.00
R0609:4930596D02Rik	UTSW	14	35,533,418 (GRCm39)	critical splice donor site	probably null
R1664:4930596D02Rik	UTSW	14	35,533,772 (GRCm39)	missense	probably benign	0.01
R1899:4930596D02Rik	UTSW	14	35,532,089 (GRCm39)	missense	probably damaging	1.00
R5153:4930596D02Rik	UTSW	14	35,532,212 (GRCm39)	missense	probably benign	0.00
R6222:4930596D02Rik	UTSW	14	35,531,923 (GRCm39)	makesense	probably null
R7314:4930596D02Rik	UTSW	14	35,533,606 (GRCm39)	missense	probably benign
R8422:4930596D02Rik	UTSW	14	35,532,009 (GRCm39)	missense	probably benign	0.15
R9629:4930596D02Rik	UTSW	14	35,532,134 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGATTCAAACAGGCACAGGC -3'
(R):5'- CCTTCTGATAAAGGGACAGTAATGG -3'

Sequencing Primer
(F):5'- CAGGCCTGCAACATTCTGATTGAG -3'
(R):5'- GGATCACCCTCTTGATAATGACC -3'

Posted On

2018-11-06