Mutagenetix > Incidental Mutation

Incidental Mutation 'R0960:4930474N05Rik'

81841

Institutional Source

Beutler Lab

Gene Symbol

4930474N05Rik

Ensembl Gene

ENSMUSG00000096405

Gene Name

RIKEN cDNA 4930474N05 gene

Synonyms

MMRRC Submission

039089-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0960 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35816899-35819358 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35818367 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 122 (H122N)

Ref Sequence

ENSEMBL: ENSMUSP00000153709 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177985] [ENSMUST00000186722] [ENSMUST00000226305]

AlphaFold

Q8BVR5

Predicted Effect

probably benign
Transcript: ENSMUST00000177985

SMART Domains

Protein: ENSMUSP00000136756
Gene: ENSMUSG00000096405

Domain	Start	End	E-Value	Type
RasGEFN	65	184	3.19e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186722

Predicted Effect

probably benign
Transcript: ENSMUST00000226305
AA Change: H122N

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	T	C	19: 8,867,792 (GRCm39)	V256A	probably benign	Het
4930433I11Rik	A	T	7: 40,642,480 (GRCm39)	T141S	probably benign	Het
Aamp	T	C	1: 74,320,304 (GRCm39)	T341A	possibly damaging	Het
Adam26a	A	T	8: 44,021,800 (GRCm39)	H563Q	probably damaging	Het
Ankrd13a	G	A	5: 114,924,868 (GRCm39)	E118K	probably benign	Het
Asic5	A	G	3: 81,913,847 (GRCm39)	I174V	probably benign	Het
Atad2b	G	A	12: 5,056,593 (GRCm39)		probably benign	Het
Bub1b	A	G	2: 118,437,161 (GRCm39)	I120V	probably benign	Het
Casp8	T	C	1: 58,868,172 (GRCm39)		probably null	Het
Cdk5rap2	A	G	4: 70,161,745 (GRCm39)	Y254H	probably benign	Het
Clasp1	T	C	1: 118,479,756 (GRCm39)	I996T	probably benign	Het
Cntn6	A	G	6: 104,751,441 (GRCm39)	I294V	probably benign	Het
Flnc	A	G	6: 29,441,511 (GRCm39)	D431G	probably damaging	Het
Gm4884	T	A	7: 40,692,232 (GRCm39)	M67K	possibly damaging	Het
Hmx3	T	C	7: 131,145,043 (GRCm39)	Y118H	probably benign	Het
Hsf2bp	C	T	17: 32,226,743 (GRCm39)	R204H	probably damaging	Het
Il12b	G	T	11: 44,299,315 (GRCm39)	C128F	probably damaging	Het
Ints6	T	C	14: 62,947,015 (GRCm39)	M317V	probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Kif27	T	C	13: 58,471,781 (GRCm39)	E769G	probably damaging	Het
Kif28	G	A	1: 179,523,370 (GRCm39)	Q987*	probably null	Het
Klhdc3	T	C	17: 46,987,444 (GRCm39)	H330R	possibly damaging	Het
Leo1	G	A	9: 75,352,522 (GRCm39)	E22K	probably benign	Het
Lpcat2	C	T	8: 93,596,338 (GRCm39)	T125M	probably benign	Het
Map1a	A	G	2: 121,132,124 (GRCm39)	Y742C	probably benign	Het
Mllt6	C	T	11: 97,555,772 (GRCm39)		probably benign	Het
Mpp2	A	G	11: 101,952,411 (GRCm39)	V354A	possibly damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Myo10	A	G	15: 25,801,275 (GRCm39)	E1488G	probably damaging	Het
Neb	A	G	2: 52,102,995 (GRCm39)	V4461A	probably benign	Het
Nudcd1	G	T	15: 44,291,047 (GRCm39)		probably benign	Het
Or10ag59	T	C	2: 87,406,279 (GRCm39)	Y284H	probably benign	Het
Or2w1b	A	C	13: 21,300,435 (GRCm39)	D191A	possibly damaging	Het
Pde1a	G	A	2: 79,695,378 (GRCm39)		probably benign	Het
Sdha	A	T	13: 74,471,303 (GRCm39)		probably benign	Het
Selenoo	T	G	15: 88,980,957 (GRCm39)	I432S	probably benign	Het
Sh3gl2	A	T	4: 85,295,717 (GRCm39)	I140F	probably damaging	Het
Svopl	G	T	6: 37,993,992 (GRCm39)	Y346*	probably null	Het
Tbc1d17	C	T	7: 44,497,852 (GRCm39)		probably benign	Het
Tlr3	A	C	8: 45,850,452 (GRCm39)	I815S	probably damaging	Het
Tmem25	T	A	9: 44,706,809 (GRCm39)		probably null	Het
Tpd52	A	T	3: 9,008,650 (GRCm39)		probably null	Het
Tspoap1	A	T	11: 87,661,421 (GRCm39)		probably benign	Het
Txndc11	A	T	16: 10,909,453 (GRCm39)	D364E	probably benign	Het
Unc5cl	G	T	17: 48,766,624 (GRCm39)		probably benign	Het
Vmn1r13	A	G	6: 57,186,996 (GRCm39)	M52V	probably benign	Het
Zap70	T	C	1: 36,818,254 (GRCm39)	Y314H	probably damaging	Het

Other mutations in 4930474N05Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01393:4930474N05Rik	APN	14	35,818,379 (GRCm39)	missense	possibly damaging	0.54
IGL01694:4930474N05Rik	APN	14	35,818,659 (GRCm39)	makesense	probably null
IGL02821:4930474N05Rik	APN	14	35,818,473 (GRCm39)	missense	probably benign	0.19
R0071:4930474N05Rik	UTSW	14	35,812,746 (GRCm39)	unclassified	probably benign
R0537:4930474N05Rik	UTSW	14	35,818,657 (GRCm39)	missense	probably benign	0.07
R1919:4930474N05Rik	UTSW	14	35,817,414 (GRCm39)	missense	possibly damaging	0.48
R2338:4930474N05Rik	UTSW	14	35,817,109 (GRCm39)	missense	probably benign
R3837:4930474N05Rik	UTSW	14	35,817,435 (GRCm39)	missense	probably benign	0.03
R4192:4930474N05Rik	UTSW	14	35,818,536 (GRCm39)	missense	possibly damaging	0.94
R4193:4930474N05Rik	UTSW	14	35,818,536 (GRCm39)	missense	possibly damaging	0.94
R4526:4930474N05Rik	UTSW	14	35,818,535 (GRCm39)	missense	probably damaging	1.00
R7007:4930474N05Rik	UTSW	14	35,817,121 (GRCm39)	missense	probably benign	0.18
R7302:4930474N05Rik	UTSW	14	35,817,306 (GRCm39)	missense	probably benign	0.00
R7998:4930474N05Rik	UTSW	14	35,818,649 (GRCm39)	missense	probably benign	0.22
R8202:4930474N05Rik	UTSW	14	35,817,057 (GRCm39)	missense	probably benign	0.01
R8714:4930474N05Rik	UTSW	14	35,818,456 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAACCATGTGATCAACCAGAGAG -3'
(R):5'- CCACAACTCGTTCAGAAGCCTATCG -3'

Sequencing Primer
(F):5'- CAACCAGAGAGATGTCTGGATAGAG -3'
(R):5'- GTTCAGAAGCCTATCGACACG -3'

Posted On

2013-11-08