Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03054:4933416I08Rik'

453040

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 #

IGL03054 (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% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,193,528 (GRCm39)	T625A	possibly damaging	Het
Aloxe3	T	C	11: 69,020,433 (GRCm39)	V159A	possibly damaging	Het
Atp13a2	T	A	4: 140,734,279 (GRCm39)	C1134S	possibly damaging	Het
Ccdc40	G	A	11: 119,154,027 (GRCm39)	E1100K	possibly damaging	Het
Ceacam5	A	T	7: 17,493,379 (GRCm39)	T801S	possibly damaging	Het
Cilp	TGGG	TGG	9: 65,187,412 (GRCm39)		probably null	Het
Col4a2	T	C	8: 11,498,270 (GRCm39)	I1693T	probably damaging	Het
Crb1	CG	C	1: 139,164,824 (GRCm39)		probably null	Het
Dab2	G	T	15: 6,447,707 (GRCm39)		probably benign	Het
Dao	T	C	5: 114,162,963 (GRCm39)	L345P	probably damaging	Het
Dis3l	A	G	9: 64,217,722 (GRCm39)		probably null	Het
Egr3	C	T	14: 70,316,561 (GRCm39)	T124M	probably damaging	Het
Gng7	G	T	10: 80,787,485 (GRCm39)	F59L	probably damaging	Het
Itgb4	C	A	11: 115,891,166 (GRCm39)	Y1190*	probably null	Het
Lacc1	T	C	14: 77,268,355 (GRCm39)	M319V	possibly damaging	Het
Mapkbp1	A	G	2: 119,845,881 (GRCm39)	T417A	probably damaging	Het
Mier3	C	T	13: 111,822,848 (GRCm39)		probably benign	Het
Mlxipl	A	G	5: 135,162,110 (GRCm39)	D569G	possibly damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Mrpl15	A	G	1: 4,855,794 (GRCm39)		probably null	Het
Neb	T	C	2: 52,161,334 (GRCm39)	N2153D	probably damaging	Het
Nlrp9c	A	G	7: 26,081,701 (GRCm39)		probably null	Het
Npepps	C	T	11: 97,132,614 (GRCm39)		probably benign	Het
Or13a17	T	G	7: 140,271,623 (GRCm39)	S268R	probably benign	Het
Or1j10	A	T	2: 36,266,944 (GRCm39)	H52L	possibly damaging	Het
Or52z12	C	A	7: 103,234,047 (GRCm39)	H273N	probably benign	Het
Psmc4	T	C	7: 27,746,605 (GRCm39)	Y160C	probably damaging	Het
Rims1	T	C	1: 22,360,333 (GRCm39)	Y131C	probably damaging	Het
Riok1	G	A	13: 38,231,291 (GRCm39)	G183D	probably damaging	Het
Samd9l	T	A	6: 3,376,023 (GRCm39)	I413F	probably damaging	Het
Tnfrsf22	A	G	7: 143,194,532 (GRCm39)	Y132H	probably damaging	Het
Ttn	T	A	2: 76,726,104 (GRCm39)		probably benign	Het
Tulp1	A	G	17: 28,578,287 (GRCm39)		probably benign	Het
Usp15	C	A	10: 122,961,836 (GRCm39)		probably benign	Het
Wdr7	G	T	18: 63,958,192 (GRCm39)		probably benign	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
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

2017-01-24