Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03147:4933416I08Rik'

453134

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: 0.870) question?

Stock #

IGL03147 (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

91% (39/43)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,740,804 (GRCm39)	E390G	probably damaging	Het
Ano3	A	G	2: 110,527,763 (GRCm39)	S552P	probably damaging	Het
Ccser1	A	G	6: 61,289,144 (GRCm39)	S436G	probably benign	Het
Chek2	A	G	5: 110,996,536 (GRCm39)	D166G	probably damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Deup1	A	T	9: 15,521,910 (GRCm39)	M85K	probably damaging	Het
Dnaaf10	G	A	11: 17,179,845 (GRCm39)	G282E	probably damaging	Het
Exo1	A	G	1: 175,716,354 (GRCm39)	Y157C	probably damaging	Het
Ext1	T	A	15: 52,951,468 (GRCm39)	I539F	probably damaging	Het
Gcn1	T	C	5: 115,748,917 (GRCm39)	V1849A	possibly damaging	Het
Gpr161	A	G	1: 165,144,877 (GRCm39)	T389A	probably benign	Het
Hjurp	TGGG	TTGCGGG	1: 88,194,002 (GRCm39)		probably benign	Het
Mir205hg	T	A	1: 193,189,768 (GRCm39)		noncoding transcript	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Muc6	G	A	7: 141,218,313 (GRCm39)	S2120F	possibly damaging	Het
Ncoa1	T	A	12: 4,309,342 (GRCm39)	Y1318F	probably damaging	Het
Or4c120	A	G	2: 89,001,316 (GRCm39)	M80T	probably benign	Het
Pml	T	C	9: 58,137,326 (GRCm39)	H491R	possibly damaging	Het
Rbmxl2	T	G	7: 106,808,858 (GRCm39)	S48A	probably benign	Het
Rgs6	A	G	12: 83,138,620 (GRCm39)	D318G	probably damaging	Het
Rmc1	T	C	18: 12,302,286 (GRCm39)		probably benign	Het
Sfi1	G	A	11: 3,136,080 (GRCm39)	T84I	possibly damaging	Het
Slc2a2	A	G	3: 28,773,519 (GRCm39)	M275V	possibly damaging	Het
Sp110	GC	GCC	1: 85,519,288 (GRCm39)		probably null	Het
Specc1	T	C	11: 62,009,108 (GRCm39)	V288A	probably benign	Het
Speer4c1	A	C	5: 15,919,214 (GRCm39)		probably benign	Het
Srsf11	C	T	3: 157,732,377 (GRCm39)	V118I	probably damaging	Het
St8sia2	C	A	7: 73,616,567 (GRCm39)	C136F	probably damaging	Het
Stmn3	A	T	2: 180,950,993 (GRCm39)	I21N	possibly damaging	Het
Trak2	G	A	1: 58,949,222 (GRCm39)	T526M	probably benign	Het
Ttn	T	A	2: 76,542,311 (GRCm39)	K25231N	probably damaging	Het
Ugt1a1	AT	A	1: 88,140,093 (GRCm39)		probably null	Het
Vmn1r11	A	T	6: 57,114,650 (GRCm39)	I68F	probably damaging	Het
Zfr	T	A	15: 12,140,638 (GRCm39)	Y228*	probably null	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
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

Predicted Primers

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

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

Posted On

2017-01-27