Mutagenetix > Incidental Mutation

Incidental Mutation 'R5490:4933406M09Rik'

432021

Institutional Source

Beutler Lab

Gene Symbol

4933406M09Rik

Ensembl Gene

ENSMUSG00000050526

Gene Name

RIKEN cDNA 4933406M09 gene

Synonyms

MMRRC Submission

043051-MU

Accession Numbers

NCBI RefSeq: NM_173771.4; MGI: 3045320

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5490 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

134385940-134390981 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 134389928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 146 (D146G)

Ref Sequence

ENSEMBL: ENSMUSP00000124251 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162187]

AlphaFold

G3XA12

Predicted Effect

probably damaging
Transcript: ENSMUST00000162187
AA Change: D146G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000124251
Gene: ENSMUSG00000050526
AA Change: D146G

Domain	Start	End	E-Value	Type
Pfam:Glyco_transf_54	52	326	7.6e-79	PFAM
low complexity region	395	405	N/A	INTRINSIC

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 90.8%

Validation Efficiency

Allele List at MGI

All alleles(6) : Targeted(2) Gene trapped(4)

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,855,857	V216E	probably damaging	Het
2310035C23Rik	T	A	1: 105,719,501	V672D	probably damaging	Het
Aatf	C	T	11: 84,510,273	G174D	probably damaging	Het
Abcc1	G	T	16: 14,410,917	G343C	probably damaging	Het
Asic2	T	C	11: 80,889,820	N370S	probably benign	Het
Btnl9	T	C	11: 49,169,568	E451G	probably damaging	Het
Cblb	A	G	16: 52,174,370	H658R	possibly damaging	Het
Cdca2	T	C	14: 67,680,284	E555G	possibly damaging	Het
Chfr	A	G	5: 110,153,129	S299G	possibly damaging	Het
Eea1	A	G	10: 96,026,054	E741G	probably benign	Het
Gapvd1	T	C	2: 34,693,433	D1057G	probably benign	Het
Glyat	C	T	19: 12,650,281	T80M	probably benign	Het
Gpr87	T	C	3: 59,179,326	S253G	probably damaging	Het
Hmgxb3	A	G	18: 61,162,977	S320P	probably damaging	Het
Kcnq5	C	T	1: 21,479,468	G345D	probably damaging	Het
Kif5c	T	C	2: 49,758,858	V938A	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Madd	G	T	2: 91,170,635	T467K	possibly damaging	Het
Mamdc4	T	C	2: 25,565,878	D706G	probably damaging	Het
Map2	A	G	1: 66,413,133	H476R	probably damaging	Het
Mpeg1	T	C	19: 12,461,693	S172P	probably damaging	Het
Nkx2-3	A	T	19: 43,612,654	T52S	probably benign	Het
Nup210	C	T	6: 91,085,988	V230I	probably damaging	Het
Olfr1009	G	T	2: 85,722,322	A306S	probably benign	Het
Olfr348	T	A	2: 36,787,181	Y219N	probably damaging	Het
Olfr568	T	C	7: 102,877,893	S258P	probably damaging	Het
Pepd	A	G	7: 34,942,690		probably null	Het
Ppp1r36	T	A	12: 76,437,986	W238R	probably damaging	Het
Ppp1r36	G	T	12: 76,437,987	W238L	possibly damaging	Het
Prpf6	T	G	2: 181,608,165	D39E	probably benign	Het
Rassf5	T	A	1: 131,181,195	Q163L	possibly damaging	Het
Rbm43	T	A	2: 51,925,595	T205S	probably benign	Het
Robo4	CGG	CG	9: 37,411,490		probably null	Het
Sds	C	A	5: 120,483,650	Q286K	possibly damaging	Het
Slc35a3	A	T	3: 116,681,190	C184*	probably null	Het
Smg1	G	A	7: 118,139,436	T3530I	possibly damaging	Het
Sspo	T	C	6: 48,493,280	V591A	probably benign	Het
Stam2	T	C	2: 52,720,917	D31G	probably damaging	Het
Star	A	G	8: 25,809,917	K96E	probably damaging	Het
Syne3	A	G	12: 104,955,672	L495P	probably damaging	Het
Tceanc2	A	T	4: 107,165,649	M47K	probably benign	Het
Tecpr2	T	C	12: 110,914,684	L85P	probably damaging	Het
Tmem241	C	T	18: 12,043,263	R116K	probably benign	Het
Yipf2	G	A	9: 21,592,191	A20V	probably benign	Het
Zc3h4	T	A	7: 16,429,005	D443E	unknown	Het
Zfp184	T	A	13: 21,958,577	V151D	probably benign	Het
Zhx1	T	C	15: 58,053,299	Y517C	probably damaging	Het

Other mutations in 4933406M09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01554:4933406M09Rik	APN	1	134389958	missense	probably damaging	1.00
IGL01862:4933406M09Rik	APN	1	134390611	missense	probably benign	0.03
P0005:4933406M09Rik	UTSW	1	134387908	missense	probably benign	0.00
R0498:4933406M09Rik	UTSW	1	134390872	missense	possibly damaging	0.69
R0563:4933406M09Rik	UTSW	1	134390039	missense	probably benign	0.00
R0731:4933406M09Rik	UTSW	1	134389975	missense	probably benign
R1558:4933406M09Rik	UTSW	1	134390774	missense	probably damaging	1.00
R2146:4933406M09Rik	UTSW	1	134390513	missense	probably damaging	1.00
R2148:4933406M09Rik	UTSW	1	134390513	missense	probably damaging	1.00
R2901:4933406M09Rik	UTSW	1	134390924	missense	probably damaging	0.99
R3897:4933406M09Rik	UTSW	1	134390438	missense	possibly damaging	0.92
R4543:4933406M09Rik	UTSW	1	134389793	missense	probably benign	0.31
R4937:4933406M09Rik	UTSW	1	134389976	missense	probably benign	0.00
R5684:4933406M09Rik	UTSW	1	134389922	missense	probably benign	0.04
R5823:4933406M09Rik	UTSW	1	134390917	missense	probably damaging	0.98
R6488:4933406M09Rik	UTSW	1	134390888	missense	probably damaging	1.00
R7177:4933406M09Rik	UTSW	1	134390425	missense	probably benign	0.08
R7201:4933406M09Rik	UTSW	1	134390468	missense	possibly damaging	0.69
R7671:4933406M09Rik	UTSW	1	134390062	missense	probably benign	0.27
R7749:4933406M09Rik	UTSW	1	134390512	missense	probably benign	0.45
R8385:4933406M09Rik	UTSW	1	134390638	missense	probably benign	0.00
R9393:4933406M09Rik	UTSW	1	134390858	missense	probably benign	0.02
Z1177:4933406M09Rik	UTSW	1	134390158	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCTTGCTGAAGTACTGAGG -3'
(R):5'- GGGCAGTCTTCACATTATCTCC -3'

Sequencing Primer
(F):5'- CCTTGCTGAAGTACTGAGGATGTC -3'
(R):5'- TCTCCTAGCAACAGGAAGTATTCAG -3'

Posted On

2016-10-05