Mutagenetix > Incidental Mutation

Incidental Mutation 'R9685:4930453N24Rik'

728816

Institutional Source

Beutler Lab

Gene Symbol

4930453N24Rik

Ensembl Gene

ENSMUSG00000059920

Gene Name

RIKEN cDNA 4930453N24 gene

Synonyms

din

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9685 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64583267-64592735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 64586823 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 300 (N300K)

Ref Sequence

ENSEMBL: ENSMUSP00000076255 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076991
AA Change: N300K

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000076255
Gene: ENSMUSG00000059920
AA Change: N300K

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

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
A130010J15Rik	G	A	1: 192,857,065 (GRCm39)	R139H	probably benign	Het
Aanat	A	C	11: 116,487,681 (GRCm39)	T127P	possibly damaging	Het
Acp4	G	A	7: 43,906,733 (GRCm39)		probably benign	Het
Arhgef5	T	G	6: 43,250,527 (GRCm39)	I426S	probably benign	Het
Bcl2a1a	T	C	9: 88,839,185 (GRCm39)	S28P	probably benign	Het
Cd163	T	C	6: 124,288,384 (GRCm39)	S272P	possibly damaging	Het
Cdk13	C	A	13: 17,978,542 (GRCm39)	R232L	unknown	Het
Clrn2	A	G	5: 45,611,331 (GRCm39)	D60G	possibly damaging	Het
Cnot6l	A	G	5: 96,230,749 (GRCm39)	L406P	probably damaging	Het
Cspg4	T	G	9: 56,797,622 (GRCm39)	V1362G	probably benign	Het
Cspp1	C	T	1: 10,196,639 (GRCm39)	S939L	probably benign	Het
Dcaf1	C	T	9: 106,713,818 (GRCm39)	T145I	probably benign	Het
Ddx28	T	C	8: 106,736,733 (GRCm39)	S442G	probably benign	Het
Dnajc3	A	T	14: 119,209,775 (GRCm39)	R283S	probably benign	Het
Dsc1	G	A	18: 20,232,087 (GRCm39)	T307I	possibly damaging	Het
Elovl5	T	C	9: 77,868,291 (GRCm39)	Y68H	probably damaging	Het
Fam25a	G	A	14: 34,077,266 (GRCm39)	T17I	probably damaging	Het
Fryl	T	C	5: 73,216,879 (GRCm39)	E2137G	probably damaging	Het
Gm10142	A	G	10: 77,551,762 (GRCm39)	Q41R	unknown	Het
Grm1	T	C	10: 10,564,775 (GRCm39)	T1178A	possibly damaging	Het
Hhip	A	T	8: 80,723,363 (GRCm39)	H430Q	probably damaging	Het
Hip1	A	G	5: 135,478,676 (GRCm39)	F178L	probably damaging	Het
Impa1	T	A	3: 10,393,430 (GRCm39)	I58L	probably benign	Het
Irak4	T	A	15: 94,451,812 (GRCm39)	V135E	probably benign	Het
Jup	A	C	11: 100,274,237 (GRCm39)	L151R	probably damaging	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Mapkbp1	C	A	2: 119,851,664 (GRCm39)	R863S	probably benign	Het
Or8k16	T	C	2: 85,519,866 (GRCm39)	F31S	probably damaging	Het
Pramel14	T	A	4: 143,719,520 (GRCm39)	M282L	probably benign	Het
Rasa4	A	G	5: 136,124,383 (GRCm39)	D144G	probably benign	Het
Rrs1	T	A	1: 9,616,390 (GRCm39)	S214R	probably benign	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,229,139 (GRCm39)		probably benign	Het
Rtca	T	A	3: 116,293,225 (GRCm39)	R195S	probably benign	Het
Scaper	A	T	9: 55,771,835 (GRCm39)	S360R	probably benign	Het
Scarb1	A	T	5: 125,371,194 (GRCm39)	F293I	possibly damaging	Het
Snapc1	T	C	12: 74,017,115 (GRCm39)		probably null	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Spta1	T	C	1: 174,032,925 (GRCm39)	V994A	probably damaging	Het
Synpo2	T	C	3: 122,911,366 (GRCm39)	E93G	probably damaging	Het
Ubr4	A	G	4: 139,191,341 (GRCm39)	T985A	unknown	Het
Vmn1r18	T	C	6: 57,367,463 (GRCm39)	I30M	possibly damaging	Het
Vmn2r15	A	G	5: 109,440,598 (GRCm39)	V420A	probably benign	Het
Vmn2r6	A	G	3: 64,464,081 (GRCm39)	V251A	probably benign	Het
Zfyve16	A	T	13: 92,659,311 (GRCm39)	I200N	possibly damaging	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
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

Predicted Primers

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

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

Posted On

2022-10-06