Mutagenetix > Incidental Mutation

Incidental Mutation 'R8464:4933402J07Rik'

656707

Institutional Source

Beutler Lab

Gene Symbol

4933402J07Rik

Ensembl Gene

ENSMUSG00000069971

Gene Name

RIKEN cDNA 4933402J07 gene

Synonyms

MMRRC Submission

067908-MU

Accession Numbers

Essential gene?

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

Stock #

R8464 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88290535-88315825 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 88315649 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 246 (D246E)

Ref Sequence

ENSEMBL: ENSMUSP00000091033 (fasta)

Gene Model

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

AlphaFold

Q8BHX0

Predicted Effect

probably damaging
Transcript: ENSMUST00000093342
AA Change: D246E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000091033
Gene: ENSMUSG00000069971
AA Change: D246E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,381,934 (GRCm39)	R1344G	possibly damaging	Het
Appl1	T	A	14: 26,674,985 (GRCm39)	K191*	probably null	Het
Bptf	T	C	11: 107,022,168 (GRCm39)	D194G	probably benign	Het
Cacna2d2	T	C	9: 107,389,206 (GRCm39)	V223A	probably damaging	Het
Ccdc13	T	C	9: 121,649,824 (GRCm39)	K208E	probably damaging	Het
Chd7	T	C	4: 8,811,465 (GRCm39)	V813A	probably benign	Het
Chst14	T	C	2: 118,757,524 (GRCm39)	V131A	probably benign	Het
Ctla4	A	G	1: 60,951,686 (GRCm39)	T72A	probably damaging	Het
Dnmt3a	T	C	12: 3,949,635 (GRCm39)	S531P	probably benign	Het
Erbb4	T	C	1: 68,348,785 (GRCm39)	I531V	probably benign	Het
Fam151a	T	A	4: 106,605,102 (GRCm39)	M488K	probably benign	Het
Foxa1	C	A	12: 57,589,246 (GRCm39)	A325S	probably benign	Het
Ighv8-5	C	T	12: 115,031,309 (GRCm39)	D77N	probably benign	Het
Itga3	C	A	11: 94,953,566 (GRCm39)	A259S	probably benign	Het
Kcnh4	T	C	11: 100,648,010 (GRCm39)	N118D	probably damaging	Het
Kif5b	A	T	18: 6,225,381 (GRCm39)	N216K	probably damaging	Het
Lipo2	C	T	19: 33,726,023 (GRCm39)	M76I	probably benign	Het
Man2b1	G	A	8: 85,820,772 (GRCm39)	A657T	possibly damaging	Het
Mms19	A	C	19: 41,935,522 (GRCm39)	D831E	probably damaging	Het
Muc21	T	G	17: 35,933,098 (GRCm39)		probably benign	Het
Myo1a	G	T	10: 127,554,453 (GRCm39)	A808S	probably benign	Het
Myo7b	A	T	18: 32,095,757 (GRCm39)	W1834R	probably benign	Het
Mypn	T	A	10: 62,966,977 (GRCm39)	K900*	probably null	Het
Ogfr	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,850 (GRCm39)		probably benign	Het
Or4b1d	G	T	2: 89,968,947 (GRCm39)	H179N	possibly damaging	Het
Or4k40	A	G	2: 111,251,192 (GRCm39)	Y35H	probably damaging	Het
Or6c212	A	T	10: 129,558,783 (GRCm39)	I210N	possibly damaging	Het
Osgepl1	A	G	1: 53,357,299 (GRCm39)	T154A	probably damaging	Het
Pacsin2	A	T	15: 83,263,384 (GRCm39)	Y82*	probably null	Het
Pomgnt1	T	C	4: 116,009,348 (GRCm39)	Y104H	probably damaging	Het
Robo3	T	C	9: 37,332,726 (GRCm39)	S857G	probably damaging	Het
Scn9a	T	C	2: 66,396,625 (GRCm39)	I89M	probably damaging	Het
Sdhd	T	C	9: 50,508,431 (GRCm39)	H145R	probably benign	Het
Selenov	C	T	7: 27,987,897 (GRCm39)	R260Q	probably benign	Het
Spag6l	T	C	16: 16,580,898 (GRCm39)	E483G	probably damaging	Het
Ssh2	T	A	11: 77,345,079 (GRCm39)	Y1021*	probably null	Het
Syne2	C	T	12: 76,012,546 (GRCm39)	A2580V	probably benign	Het
Taf6	T	C	5: 138,180,924 (GRCm39)	E219G	probably damaging	Het
Ttc27	A	G	17: 75,024,925 (GRCm39)	T7A	probably benign	Het
Unc80	A	G	1: 66,512,423 (GRCm39)	K111R	probably damaging	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
R6470:4933402J07Rik	UTSW	8	88,290,656 (GRCm39)	missense	probably benign	0.00
R7258:4933402J07Rik	UTSW	8	88,312,805 (GRCm39)	missense	probably damaging	0.99
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'- GCTTAAAGTCAACCCCTTTGCC -3'
(R):5'- TGATGCATTTGACTTATTCGCC -3'

Sequencing Primer
(F):5'- ACTATGTAGACTAGGCTAGCCTC -3'
(R):5'- CTGGTGCGGTCTACAGAAGCTAG -3'

Posted On

2021-01-18