Mutagenetix > Incidental Mutation

Incidental Mutation 'R4058:4930453N24Rik'

314356

Institutional Source

Beutler Lab

Gene Symbol

4930453N24Rik

Ensembl Gene

ENSMUSG00000059920

Gene Name

RIKEN cDNA 4930453N24 gene

Synonyms

din

MMRRC Submission

040969-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64583267-64592735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64586821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 301 (V301A)

Ref Sequence

ENSEMBL: ENSMUSP00000076255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076991]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000076991
AA Change: V301A

PolyPhen 2 Score 0.433 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000076255
Gene: ENSMUSG00000059920
AA Change: V301A

Domain	Start	End	E-Value	Type
Pfam:DUF4518	4	274	1.8e-111	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162732

Meta Mutation Damage Score

0.2314

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

88% (38/43)

MGI Phenotype

PHENOTYPE: Homozygous mutants show arrested eruption of incisors causing dentin formation to continue and occlude the pulp chamber. Mice also display small size, reduced ear pinna, and have abnormal coat color and patterning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	A	G	3: 89,254,362 (GRCm39)	V145A	possibly damaging	Het
Anxa4	C	T	6: 86,734,800 (GRCm39)		probably null	Het
Aqp9	C	A	9: 71,037,726 (GRCm39)	V184L	probably benign	Het
Atp13a3	C	A	16: 30,173,064 (GRCm39)	C271F	possibly damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Cldn34c4	C	A	X: 126,629,060 (GRCm39)	V137F	probably benign	Het
Cngb1	T	C	8: 95,994,282 (GRCm39)	E163G	probably benign	Het
Dync1i1	A	G	6: 5,769,764 (GRCm39)	D113G	probably damaging	Het
Etl4	T	A	2: 20,810,830 (GRCm39)	V971D	possibly damaging	Het
Gys1	A	G	7: 45,097,810 (GRCm39)		probably benign	Het
H13	C	G	2: 152,533,794 (GRCm39)	P227R	probably damaging	Het
Ift22	C	A	5: 136,940,717 (GRCm39)	P84Q	unknown	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Kdm8	T	A	7: 125,055,666 (GRCm39)	Y65N	probably damaging	Het
Lbp	T	A	2: 158,166,550 (GRCm39)	V368E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Megf6	T	C	4: 154,326,989 (GRCm39)		probably benign	Het
Mettl13	G	T	1: 162,373,755 (GRCm39)	H165Q	probably damaging	Het
Mitd1	C	T	1: 37,920,107 (GRCm39)	S167N	probably benign	Het
Mon2	A	G	10: 122,838,724 (GRCm39)	V1593A	probably benign	Het
Nkx3-2	T	A	5: 41,919,406 (GRCm39)	E194V	possibly damaging	Het
Nup210	A	T	6: 91,037,602 (GRCm39)	V757D	probably benign	Het
Opcml	A	G	9: 28,812,884 (GRCm39)	Y192C	probably damaging	Het
Or10ak7	T	C	4: 118,791,880 (GRCm39)	D53G	probably damaging	Het
Or5m8	T	A	2: 85,822,576 (GRCm39)	S138R	possibly damaging	Het
Pcdha2	A	G	18: 37,072,935 (GRCm39)	S189G	probably benign	Het
Pkd2l2	T	C	18: 34,561,245 (GRCm39)	F418L	probably benign	Het
Plekhg1	A	G	10: 3,907,087 (GRCm39)	D668G	probably damaging	Het
Prep	G	A	10: 45,034,467 (GRCm39)	V660M	probably benign	Het
Qrfprl	T	A	6: 65,358,525 (GRCm39)	I83N	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Rhbdd1	A	G	1: 82,348,102 (GRCm39)	N235D	possibly damaging	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Sgo2b	A	T	8: 64,379,981 (GRCm39)	D950E	probably damaging	Het
Slc1a5	T	C	7: 16,529,778 (GRCm39)	V399A	probably damaging	Het
Spag16	A	T	1: 69,892,487 (GRCm39)	Q89H	probably damaging	Het
Spta1	T	C	1: 174,068,703 (GRCm39)	W2168R	probably damaging	Het
Taok1	T	A	11: 77,440,264 (GRCm39)	K581M	probably benign	Het
Tns3	T	C	11: 8,442,275 (GRCm39)	D696G	probably damaging	Het
Tspan8	C	T	10: 115,671,187 (GRCm39)	R115*	probably null	Het
Txnrd1	A	G	10: 82,721,114 (GRCm39)	E510G	probably benign	Het
Usp45	T	C	4: 21,810,746 (GRCm39)	I314T	probably damaging	Het
Vmn2r15	T	A	5: 109,441,312 (GRCm39)	H182L	probably damaging	Het
Vmn2r76	A	C	7: 85,879,508 (GRCm39)	M264R	probably benign	Het

Other mutations in 4930453N24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03358:4930453N24Rik	APN	16	64,586,909 (GRCm39)	missense	possibly damaging	0.80
grava	UTSW	16	64,589,377 (GRCm39)	nonsense	probably null
R0614:4930453N24Rik	UTSW	16	64,586,977 (GRCm39)	missense	probably damaging	1.00
R1729:4930453N24Rik	UTSW	16	64,589,385 (GRCm39)	missense	probably damaging	0.96
R1784:4930453N24Rik	UTSW	16	64,589,385 (GRCm39)	missense	probably damaging	0.96
R4059:4930453N24Rik	UTSW	16	64,586,821 (GRCm39)	missense	probably benign	0.43
R7099:4930453N24Rik	UTSW	16	64,591,151 (GRCm39)	missense	probably benign	0.36
R8298:4930453N24Rik	UTSW	16	64,586,695 (GRCm39)	missense	probably benign
R9007:4930453N24Rik	UTSW	16	64,589,377 (GRCm39)	nonsense	probably null
R9344:4930453N24Rik	UTSW	16	64,591,135 (GRCm39)	missense	possibly damaging	0.91
R9555:4930453N24Rik	UTSW	16	64,586,947 (GRCm39)	missense	probably benign	0.06
R9685:4930453N24Rik	UTSW	16	64,586,823 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- CGGCAGTGGCTTAGAGATAG -3'
(R):5'- CACCGAGGAAATTCTTGTTTGG -3'

Sequencing Primer
(F):5'- CAGTGGCTTAGAGATAGATGGTC -3'
(R):5'- GGGCATATTTGAGCAAATTTTTGGAC -3'

Posted On

2015-04-30