Mutagenetix > Incidental Mutation

Incidental Mutation 'R6470:4933402J07Rik'

516478

Institutional Source

Beutler Lab

Gene Symbol

4933402J07Rik

Ensembl Gene

ENSMUSG00000069971

Gene Name

RIKEN cDNA 4933402J07 gene

Synonyms

MMRRC Submission

044603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R6470 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88290535-88315825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88290656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 5 (V5L)

Ref Sequence

ENSEMBL: ENSMUSP00000091033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093342]

AlphaFold

Q8BHX0

Predicted Effect

probably benign
Transcript: ENSMUST00000093342
AA Change: V5L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000091033
Gene: ENSMUSG00000069971
AA Change: V5L

Domain	Start	End	E-Value	Type
Pfam:DUF4638	1	269	3e-125	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bptf	A	G	11: 106,963,593 (GRCm39)	V1804A	probably damaging	Het
Brinp3	A	G	1: 146,777,644 (GRCm39)	D697G	probably damaging	Het
Carns1	T	C	19: 4,221,782 (GRCm39)	T158A	possibly damaging	Het
Cd300lg	A	G	11: 101,941,331 (GRCm39)	N244S	possibly damaging	Het
Ces3b	A	T	8: 105,815,285 (GRCm39)	Q12L	possibly damaging	Het
Chd9	A	G	8: 91,659,426 (GRCm39)	T129A	probably damaging	Het
Clca3a2	T	A	3: 144,510,024 (GRCm39)		probably null	Het
Cubn	G	T	2: 13,327,804 (GRCm39)	R2674S	possibly damaging	Het
Cyp2b10	T	C	7: 25,611,081 (GRCm39)	I146T	possibly damaging	Het
Cyp4v3	C	T	8: 45,770,773 (GRCm39)	W244*	probably null	Het
Dnah6	T	A	6: 73,051,569 (GRCm39)	D3075V	probably damaging	Het
Dpy19l2	A	T	9: 24,572,039 (GRCm39)	I327N	possibly damaging	Het
Dst	T	A	1: 34,334,318 (GRCm39)	F4849I	probably damaging	Het
Dysf	A	G	6: 84,043,926 (GRCm39)	I256V	possibly damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Garin5b	T	C	7: 4,760,850 (GRCm39)	T621A	probably benign	Het
Gba1	C	T	3: 89,111,388 (GRCm39)	P51L	probably benign	Het
Gm9936	T	C	5: 114,995,482 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,503,680 (GRCm39)	F312S	probably damaging	Het
Ifna2	T	C	4: 88,601,751 (GRCm39)	N89S	probably benign	Het
Il17rb	A	G	14: 29,724,866 (GRCm39)	S207P	probably benign	Het
Itga9	A	T	9: 118,726,335 (GRCm39)	I430F	probably damaging	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Ltk	A	T	2: 119,583,516 (GRCm39)		probably null	Het
Nat8l	C	T	5: 34,155,836 (GRCm39)	T164M	probably damaging	Het
Nrf1	A	G	6: 30,102,199 (GRCm39)	D166G	probably damaging	Het
Nxph3	A	G	11: 95,401,919 (GRCm39)	I165T	possibly damaging	Het
Or10a4	T	C	7: 106,696,951 (GRCm39)	I93T	probably damaging	Het
Phlpp2	A	G	8: 110,663,826 (GRCm39)	D955G	probably benign	Het
Pianp	T	A	6: 124,976,232 (GRCm39)		probably benign	Het
Plin2	G	T	4: 86,586,607 (GRCm39)	Q75K	probably damaging	Het
Qrich1	T	C	9: 108,411,717 (GRCm39)	V414A	probably damaging	Het
Ros1	A	G	10: 52,042,140 (GRCm39)		probably null	Het
Sardh	C	T	2: 27,134,384 (GRCm39)	R44Q	probably damaging	Het
Scaf4	C	T	16: 90,026,526 (GRCm39)	W1072*	probably null	Het
Sh3rf3	A	G	10: 58,819,791 (GRCm39)	K201E	probably damaging	Het
Shprh	G	T	10: 11,047,681 (GRCm39)	A1010S	probably damaging	Het
Slc35d1	A	G	4: 103,047,019 (GRCm39)	S260P	probably damaging	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Sptb	A	G	12: 76,659,603 (GRCm39)	L1099P	probably damaging	Het
Srrt	T	C	5: 137,300,918 (GRCm39)	D90G	probably damaging	Het
Syt10	T	C	15: 89,676,804 (GRCm39)	D394G	probably damaging	Het
Tlr3	T	C	8: 45,850,422 (GRCm39)	D301G	probably damaging	Het
Ubr3	T	A	2: 69,795,804 (GRCm39)	M916K	probably benign	Het

Other mutations in 4933402J07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02419:4933402J07Rik	APN	8	88,312,727 (GRCm39)	missense	possibly damaging	0.92
IGL02896:4933402J07Rik	APN	8	88,315,648 (GRCm39)	missense	probably damaging	0.99
R1755:4933402J07Rik	UTSW	8	88,315,585 (GRCm39)	missense	possibly damaging	0.73
R1848:4933402J07Rik	UTSW	8	88,295,121 (GRCm39)	nonsense	probably null
R2150:4933402J07Rik	UTSW	8	88,312,691 (GRCm39)	nonsense	probably null
R4832:4933402J07Rik	UTSW	8	88,294,601 (GRCm39)	missense	probably null	0.95
R5604:4933402J07Rik	UTSW	8	88,295,125 (GRCm39)	missense	possibly damaging	0.80
R7258:4933402J07Rik	UTSW	8	88,312,805 (GRCm39)	missense	probably damaging	0.99
R8464:4933402J07Rik	UTSW	8	88,315,649 (GRCm39)	missense	probably damaging	0.98
R8922:4933402J07Rik	UTSW	8	88,295,177 (GRCm39)	missense	possibly damaging	0.95
R9043:4933402J07Rik	UTSW	8	88,309,238 (GRCm39)	missense	possibly damaging	0.45
R9801:4933402J07Rik	UTSW	8	88,290,717 (GRCm39)	missense	probably damaging	0.98
Z1176:4933402J07Rik	UTSW	8	88,295,202 (GRCm39)	missense	probably benign	0.01
Z1177:4933402J07Rik	UTSW	8	88,312,745 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACCTAGAGGCCAGTTGCTAAG -3'
(R):5'- AATTTTGCACAGTCTTCCAGC -3'

Sequencing Primer
(F):5'- GTGACCTCACAATCACTCTCTAG -3'
(R):5'- TGCACAGTCTTCCAGCAAATTC -3'

Posted On

2018-05-21