Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03055:4933416I08Rik'

453408

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 #

IGL03055 (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

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900041M22Rik	T	A	11: 117,503,072 (GRCm39)		noncoding transcript	Het
A430005L14Rik	T	A	4: 154,045,092 (GRCm39)	S40R	probably benign	Het
Aire	A	G	10: 77,878,903 (GRCm39)	L48P	probably damaging	Het
Alkbh8	T	C	9: 3,345,882 (GRCm39)		probably benign	Het
Aqp7	A	G	4: 41,045,326 (GRCm39)	M18T	probably benign	Het
Cchcr1	T	A	17: 35,837,516 (GRCm39)	M406K	probably benign	Het
Cdhr1	A	T	14: 36,817,054 (GRCm39)	D102E	probably benign	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Clec16a	T	A	16: 10,559,645 (GRCm39)	S973T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Csmd1	A	G	8: 16,145,515 (GRCm39)	Y1471H	probably damaging	Het
Dnah12	A	G	14: 26,594,697 (GRCm39)	Y3489C	probably damaging	Het
Ect2	T	C	3: 27,191,211 (GRCm39)	E464G	probably damaging	Het
Enpp2	C	A	15: 54,729,481 (GRCm39)		probably null	Het
Erich2	G	T	2: 70,339,529 (GRCm39)	C28F	possibly damaging	Het
Fam135b	A	T	15: 71,493,883 (GRCm39)	H15Q	possibly damaging	Het
Fcna	G	C	2: 25,520,693 (GRCm39)		probably benign	Het
Gfral	T	A	9: 76,115,831 (GRCm39)	T48S	probably benign	Het
Itga10	A	G	3: 96,557,836 (GRCm39)	E293G	probably damaging	Het
Lrp2	A	T	2: 69,288,792 (GRCm39)	N3691K	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nefm	T	C	14: 68,360,358 (GRCm39)	T371A	probably damaging	Het
Nkain3	C	A	4: 20,778,308 (GRCm39)	C3F	probably benign	Het
Nol4l	G	C	2: 153,278,190 (GRCm39)		silent	Het
Nprl3	C	A	11: 32,198,230 (GRCm39)		probably benign	Het
Or52p1	A	T	7: 104,267,413 (GRCm39)	I176F	probably damaging	Het
Pate2	T	C	9: 35,523,069 (GRCm39)		probably benign	Het
Pde4d	A	G	13: 110,071,879 (GRCm39)	K128R	probably damaging	Het
Ptprt	A	G	2: 161,375,533 (GRCm39)	L1329P	probably damaging	Het
Rapgef3	T	C	15: 97,647,370 (GRCm39)		probably benign	Het
Rassf5	T	C	1: 131,172,732 (GRCm39)	I46V	probably benign	Het
Rin1	C	T	19: 5,103,187 (GRCm39)	T481I	probably benign	Het
Samd4b	A	G	7: 28,104,971 (GRCm39)	L524P	possibly damaging	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srebf1	T	C	11: 60,097,902 (GRCm39)		silent	Het
Ssh2	C	T	11: 77,299,021 (GRCm39)	Q123*	probably null	Het
St18	G	T	1: 6,872,959 (GRCm39)	L231F	probably damaging	Het
Stk11	A	C	10: 79,963,920 (GRCm39)	D96A	probably damaging	Het
Svil	A	G	18: 5,108,615 (GRCm39)	T1918A	probably damaging	Het
Thrap3	G	A	4: 126,059,335 (GRCm39)		probably null	Het
Tlr1	C	A	5: 65,083,939 (GRCm39)	V213F	probably benign	Het
Trappc10	C	T	10: 78,050,520 (GRCm39)	R307Q	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Wnt6	G	A	1: 74,822,013 (GRCm39)	R198H	probably damaging	Het
Yipf2	A	T	9: 21,501,019 (GRCm39)	V98E	probably benign	Het
Zc3h15	A	G	2: 83,491,515 (GRCm39)	T248A	possibly damaging	Het
Zc3hav1	C	T	6: 38,293,251 (GRCm39)		probably null	Het
Zfp697	T	G	3: 98,332,810 (GRCm39)	C79G	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
IGL03050:4933416I08Rik	UTSW	X	52,692,862 (GRCm39)	unclassified	noncoding transcript
IGL03054:4933416I08Rik	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'- GTCAGTATAGCAGGCAGGAC -3'
(R):5'- GGCACTCTGTTGTCCTGAAAG -3'

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

Posted On

2017-02-03