Mutagenetix > Incidental Mutation

Incidental Mutation 'R4059:4930453N24Rik'

314409

Institutional Source

Beutler Lab

Gene Symbol

4930453N24Rik

Ensembl Gene

ENSMUSG00000059920

Gene Name

RIKEN cDNA 4930453N24 gene

Synonyms

din

MMRRC Submission

040970-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4059 (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: 97.1%
20x: 94.6%

Validation Efficiency

98% (54/55)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	T	C	6: 34,823,834 (GRCm39)	L833P	probably damaging	Het
Amph	T	C	13: 19,326,168 (GRCm39)	S633P	probably damaging	Het
Aspscr1	T	C	11: 120,577,505 (GRCm39)	V60A	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
BC051019	C	T	7: 109,317,202 (GRCm39)	W163*	probably null	Het
Capza1	T	C	3: 104,732,427 (GRCm39)	E245G	probably damaging	Het
Cd81	G	T	7: 142,619,030 (GRCm39)	C18F	probably damaging	Het
Cfap45	G	T	1: 172,366,056 (GRCm39)	R303L	probably benign	Het
Commd9	T	C	2: 101,725,499 (GRCm39)	V24A	possibly damaging	Het
Dennd4a	A	G	9: 64,819,174 (GRCm39)	N1742D	possibly damaging	Het
Dgat1	G	T	15: 76,388,371 (GRCm39)	A182D	possibly damaging	Het
Dlg4	T	C	11: 69,917,909 (GRCm39)	L64P	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Epb41l4b	C	T	4: 57,024,337 (GRCm39)		probably null	Het
Fam13c	T	C	10: 70,390,338 (GRCm39)	L533P	probably damaging	Het
Fjx1	T	C	2: 102,281,066 (GRCm39)	T290A	possibly damaging	Het
Hid1	C	T	11: 115,247,565 (GRCm39)	E278K	probably damaging	Het
Hsd3b7	T	C	7: 127,400,717 (GRCm39)	I57T	probably damaging	Het
Igfn1	A	G	1: 135,897,494 (GRCm39)	V1024A	probably benign	Het
Itgae	A	G	11: 73,002,960 (GRCm39)	K175E	probably benign	Het
Klhl32	T	C	4: 24,792,781 (GRCm39)	T14A	probably damaging	Het
Krt23	T	C	11: 99,376,614 (GRCm39)	T181A	probably benign	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrrc36	A	G	8: 106,154,428 (GRCm39)	E33G	probably damaging	Het
Mettl13	G	T	1: 162,373,755 (GRCm39)	H165Q	probably damaging	Het
Mocos	G	A	18: 24,812,447 (GRCm39)	G447D	probably damaging	Het
Ngef	T	A	1: 87,413,953 (GRCm39)	K399N	probably damaging	Het
Ntrk1	A	G	3: 87,688,786 (GRCm39)	L589P	probably damaging	Het
Or4c104	C	T	2: 88,586,795 (GRCm39)	V75I	probably benign	Het
Pcdha2	A	G	18: 37,072,935 (GRCm39)	S189G	probably benign	Het
Peg10	T	G	6: 4,756,427 (GRCm39)		probably benign	Het
Pkhd1l1	C	T	15: 44,414,156 (GRCm39)	H2808Y	probably benign	Het
Plekhg1	A	G	10: 3,907,087 (GRCm39)	D668G	probably damaging	Het
Ptcd2	A	G	13: 99,481,084 (GRCm39)	C32R	probably damaging	Het
Rgs8	A	G	1: 153,566,742 (GRCm39)	T98A	probably null	Het
Rhoh	G	A	5: 66,049,931 (GRCm39)	S67N	probably benign	Het
Rnd3	A	G	2: 51,038,760 (GRCm39)	F43L	probably damaging	Het
Runx1	A	G	16: 92,441,134 (GRCm39)	V225A	probably benign	Het
Runx1t1	T	C	4: 13,889,769 (GRCm39)	V566A	probably benign	Het
Sall2	A	G	14: 52,552,028 (GRCm39)	I387T	probably damaging	Het
Sec14l1	T	A	11: 117,040,024 (GRCm39)	V384D	possibly damaging	Het
Sh3rf3	T	C	10: 58,919,355 (GRCm39)	C491R	probably damaging	Het
Slc22a27	T	A	19: 7,856,973 (GRCm39)		probably benign	Het
Spire1	A	G	18: 67,678,783 (GRCm39)	S53P	probably damaging	Het
Tmco3	A	G	8: 13,370,848 (GRCm39)	R671G	probably benign	Het
Tmpo	A	G	10: 90,998,123 (GRCm39)	S555P	probably benign	Het
Tnip1	A	G	11: 54,802,395 (GRCm39)	S638P	probably benign	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
Ucp3	T	C	7: 100,131,871 (GRCm39)	Y241H	probably damaging	Het
Vmn2r96	A	G	17: 18,818,339 (GRCm39)	I831V	probably benign	Het
Zan	T	C	5: 137,435,082 (GRCm39)	I2104V	unknown	Het
Zfp619	A	C	7: 39,184,823 (GRCm39)	R284S	probably benign	Het
Zfp715	T	C	7: 42,951,155 (GRCm39)	M48V	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
R4058:4930453N24Rik	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'- TCGGCAGTGGCTTAGAGATAG -3'
(R):5'- CACCGAGGAAATTCTTGTTTGG -3'

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

Posted On

2015-04-30