Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03050:4933416I08Rik'

453454

Institutional Source

Beutler Lab

Gene Symbol

4933416I08Rik

Ensembl Gene

ENSMUSG00000071763

Gene Name

RIKEN cDNA 4933416I08 gene

Synonyms

Gm14597

Accession Numbers

Essential gene?

Probably essential (E-score: 0.861) question?

Stock #

IGL03050 (G1)

Quality Score

217

Status

Validated

Chromosome

Chromosomal Location

52576567-52608981 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

TCC to TCCC at 52692862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192662

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd2	G	A	19: 42,028,533 (GRCm39)	R63H	probably damaging	Het
Bbs2	C	A	8: 94,801,041 (GRCm39)		probably benign	Het
Btbd7	G	T	12: 102,779,065 (GRCm39)	D400E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col17a1	C	T	19: 47,636,537 (GRCm39)		probably null	Het
Col3a1	A	G	1: 45,368,085 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Dpp8	C	G	9: 64,962,118 (GRCm39)	S386C	probably benign	Het
Dscaml1	A	C	9: 45,654,297 (GRCm39)	D1443A	probably damaging	Het
Dsp	T	C	13: 38,372,421 (GRCm39)		probably benign	Het
Elf2	C	T	3: 51,165,038 (GRCm39)	R262Q	probably benign	Het
Fat3	G	A	9: 15,907,896 (GRCm39)	S2702F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	T	A	5: 72,279,497 (GRCm39)	S347R	probably benign	Het
Hivep1	T	C	13: 42,309,604 (GRCm39)	S615P	probably benign	Het
Kcnq3	T	C	15: 65,897,027 (GRCm39)	D291G	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mirt1	A	G	19: 53,433,710 (GRCm39)		noncoding transcript	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mug1	T	A	6: 121,857,530 (GRCm39)	S1085T	possibly damaging	Het
Myo18a	A	T	11: 77,709,596 (GRCm39)	T190S	probably benign	Het
Myo5a	G	A	9: 75,054,191 (GRCm39)		probably null	Het
Or1ak2	T	A	2: 36,827,635 (GRCm39)	F168Y	probably damaging	Het
Or1l8	A	T	2: 36,817,820 (GRCm39)	M102K	probably damaging	Het
Or1m1	A	T	9: 18,666,750 (GRCm39)	Y60*	probably null	Het
Or5an1	G	T	19: 12,260,876 (GRCm39)	V155L	probably benign	Het
Or9g3	A	G	2: 85,589,785 (GRCm39)	*312Q	probably null	Het
Relch	T	A	1: 105,654,106 (GRCm39)	V825E	probably damaging	Het
Rgma	G	A	7: 73,067,263 (GRCm39)	V173M	probably damaging	Het
Rgsl1	G	A	1: 153,701,422 (GRCm39)	S379F	possibly damaging	Het
Sec16a	T	A	2: 26,305,759 (GRCm39)	D2215V	probably damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Ttyh2	T	A	11: 114,599,680 (GRCm39)	L370Q	probably damaging	Het
Ugt8a	T	C	3: 125,669,139 (GRCm39)	R322G	possibly damaging	Het
Vmn2r97	T	C	17: 19,167,900 (GRCm39)	M718T	possibly damaging	Het
Zhx2	T	C	15: 57,686,229 (GRCm39)	F533L	possibly damaging	Het

Other mutations in 4933416I08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02528:4933416I08Rik	APN	X	52,580,792 (GRCm39)	missense	probably damaging	1.00
IGL02984:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL02988:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL02991:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03014:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03054:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03055:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03097:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03098:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03134:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03138:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03147:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript

Predicted Primers

PCR Primer
(F):5'- TGTCAGTATAGCAGGCAGGAC -3'
(R):5'- GGCACTCTGTTGTCCTGAAAG -3'

Sequencing Primer
(F):5'- TATAGCAGGCAGGACAGGAAAGC -3'
(R):5'- GCACTAAATGAGGCCCTCTATTGG -3'

Posted On

2017-02-08