Mutagenetix > Incidental Mutation

Incidental Mutation 'R7099:4930453N24Rik'

550729

Institutional Source

Beutler Lab

Gene Symbol

4930453N24Rik

Ensembl Gene

ENSMUSG00000059920

Gene Name

RIKEN cDNA 4930453N24 gene

Synonyms

din

MMRRC Submission

045191-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7099 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

64583267-64592735 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 64591151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 26 (A26T)

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: A26T

PolyPhen 2 Score 0.356 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000076255
Gene: ENSMUSG00000059920
AA Change: A26T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (65/65)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	T	C	11: 100,383,117 (GRCm39)		probably null	Het
Adam29	A	C	8: 56,324,439 (GRCm39)	L672V	probably benign	Het
Adgrf1	T	C	17: 43,621,493 (GRCm39)	S577P	probably benign	Het
Ankar	T	C	1: 72,682,452 (GRCm39)	K1371R	probably damaging	Het
Arid5b	T	C	10: 67,934,009 (GRCm39)	D631G	probably damaging	Het
Brpf3	T	C	17: 29,025,611 (GRCm39)	V228A	probably benign	Het
C3	T	C	17: 57,513,276 (GRCm39)	D1457G	probably benign	Het
Calr4	A	T	4: 109,099,426 (GRCm39)	N143I	probably benign	Het
Catsperd	T	G	17: 56,935,811 (GRCm39)		probably null	Het
Cobl	T	A	11: 12,246,540 (GRCm39)	H154L		Het
Cryzl2	G	A	1: 157,316,154 (GRCm39)		probably benign	Het
Dennd1c	A	G	17: 57,374,915 (GRCm39)		probably null	Het
Dnah8	A	T	17: 30,923,698 (GRCm39)	D1222V	possibly damaging	Het
Errfi1	T	C	4: 150,951,225 (GRCm39)	S218P	probably benign	Het
Fbxw27	G	T	9: 109,599,223 (GRCm39)	T398N	probably damaging	Het
Fhod3	A	G	18: 25,223,219 (GRCm39)	D855G	probably benign	Het
Flii	A	G	11: 60,611,481 (GRCm39)	V410A	probably benign	Het
Fsip2	C	A	2: 82,817,968 (GRCm39)	P4567Q	probably benign	Het
Fxyd1	T	G	7: 30,752,458 (GRCm39)	Q66H	probably damaging	Het
Gdi1	G	A	X: 73,350,461 (GRCm39)	R55H	probably benign	Het
Gramd2b	C	T	18: 56,625,017 (GRCm39)	T370I	probably benign	Het
Kdr	A	G	5: 76,104,993 (GRCm39)	V1079A	probably damaging	Het
Lmx1a	G	A	1: 167,658,115 (GRCm39)	G166D	probably damaging	Het
Lrrfip2	A	G	9: 111,002,176 (GRCm39)	R92G	probably benign	Het
Map1a	T	A	2: 121,130,998 (GRCm39)	S605T	probably benign	Het
Megf8	A	T	7: 25,045,945 (GRCm39)	D1496V	probably damaging	Het
Mgam	T	C	6: 40,638,650 (GRCm39)	V461A	probably benign	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Nav3	T	C	10: 109,539,195 (GRCm39)	T2069A	probably benign	Het
Nbeal2	A	T	9: 110,474,506 (GRCm39)		probably null	Het
Ndst1	A	G	18: 60,828,572 (GRCm39)	F661L	possibly damaging	Het
Neu3	G	A	7: 99,463,027 (GRCm39)	T232M	possibly damaging	Het
Nf1	T	C	11: 79,461,156 (GRCm39)	S741P	probably benign	Het
Nr5a1	G	T	2: 38,584,148 (GRCm39)	L424M	probably damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or4d10c	A	G	19: 12,065,530 (GRCm39)	F209L	possibly damaging	Het
Or4k51	A	T	2: 111,585,421 (GRCm39)	T276S	probably benign	Het
Or6d12	T	A	6: 116,493,721 (GRCm39)	*328R	probably null	Het
Or8g33	G	A	9: 39,337,599 (GRCm39)	T256I	probably benign	Het
Otud7a	A	G	7: 63,407,203 (GRCm39)	E502G	possibly damaging	Het
Otulin	A	G	15: 27,608,832 (GRCm39)	L237S	probably damaging	Het
Pias1	A	G	9: 62,788,427 (GRCm39)	M79T		Het
Prom2	T	C	2: 127,381,698 (GRCm39)	E206G	probably benign	Het
Scarb1	A	T	5: 125,381,414 (GRCm39)	N43K	probably damaging	Het
Sdad1	A	G	5: 92,441,832 (GRCm39)	V365A	possibly damaging	Het
Sdk2	T	C	11: 113,725,731 (GRCm39)	T1173A	probably damaging	Het
Sidt1	A	G	16: 44,063,860 (GRCm39)	S803P	probably damaging	Het
Slc45a1	A	T	4: 150,714,030 (GRCm39)	D738E	probably benign	Het
Slc4a7	T	A	14: 14,733,750 (GRCm38)	H53Q	probably damaging	Het
Spata22	T	C	11: 73,231,225 (GRCm39)	F160L	probably benign	Het
Stag1	G	A	9: 100,826,879 (GRCm39)	V949I	probably benign	Het
Syne1	T	C	10: 5,073,744 (GRCm39)	S1200G	probably benign	Het
Tbc1d9	A	G	8: 83,981,520 (GRCm39)	E729G	probably damaging	Het
Tcaf2	C	T	6: 42,607,275 (GRCm39)	M226I	probably benign	Het
Tep1	T	C	14: 51,081,944 (GRCm39)		probably null	Het
Tigd2	C	A	6: 59,187,166 (GRCm39)	T11K	probably damaging	Het
Trappc9	A	G	15: 72,565,468 (GRCm39)	V941A	probably benign	Het
Ugt2b37	A	G	5: 87,388,848 (GRCm39)	M455T	probably benign	Het
Usp42	A	T	5: 143,712,400 (GRCm39)	S95T	probably damaging	Het
Usp44	T	C	10: 93,686,049 (GRCm39)	I488T	possibly damaging	Het
Vmn1r73	T	C	7: 11,490,320 (GRCm39)	I46T	probably damaging	Het
Vmn2r34	A	T	7: 7,675,540 (GRCm39)	I616N	probably damaging	Het
Zfp352	A	G	4: 90,113,117 (GRCm39)	K419R	probably benign	Het
Zfp595	T	A	13: 67,465,711 (GRCm39)	H187L	probably damaging	Het
Zfp804b	A	T	5: 6,822,161 (GRCm39)	S301T	probably benign	Het
Zzef1	T	C	11: 72,763,475 (GRCm39)	V1374A	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
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'- CATGGGAATGGGCTCATCTG -3'
(R):5'- TTCCGGTGTCTGTTGCCAAG -3'

Sequencing Primer
(F):5'- CGCATGTCCGCAAAAGTTTG -3'
(R):5'- TCTGTTGCCAAGGCGCC -3'

Posted On

2019-05-15