Mutagenetix > Incidental Mutation

Incidental Mutation 'R0094:1700006A11Rik'

17203

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

038380-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R0094 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 124409778 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029598] [ENSMUST00000198630]

AlphaFold

B9EHI3

Predicted Effect

probably benign
Transcript: ENSMUST00000029598

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973

Domain	Start	End	E-Value	Type
RhoGAP	78	251	3.63e-37	SMART
RhoGAP	377	543	3.19e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082981

Predicted Effect

probably benign
Transcript: ENSMUST00000198630

Coding Region Coverage

1x: 84.5%
3x: 75.9%
10x: 43.5%
20x: 12.9%

Validation Efficiency

86% (51/59)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,560,811		noncoding transcript	Het
4931429L15Rik	T	A	9: 46,306,886	T185S	possibly damaging	Het
Ahnak	T	A	19: 9,013,893	D4180E	probably benign	Het
Amotl1	A	G	9: 14,575,387	S441P	probably benign	Het
Ankrd12	A	T	17: 65,970,176	D2034E	probably damaging	Het
B3gnt2	T	C	11: 22,836,655	R178G	probably damaging	Het
Colgalt1	T	C	8: 71,623,158	V483A	probably damaging	Het
Ctsj	A	C	13: 61,003,705		probably null	Het
Dap3	T	A	3: 88,927,028	M294L	probably benign	Het
Ddias	T	C	7: 92,859,900	N269S	possibly damaging	Het
Dsg2	A	T	18: 20,591,853	T439S	probably benign	Het
Eif2b1	A	G	5: 124,571,766	F250L	probably benign	Het
Emc1	T	A	4: 139,360,485	F100Y	probably damaging	Het
Hfm1	T	A	5: 106,917,478	M112L	probably benign	Het
Lipg	T	C	18: 74,945,846	Y445C	probably benign	Het
Lrp1b	T	C	2: 41,282,030		probably benign	Het
Ltbp2	A	G	12: 84,799,426	Y897H	probably damaging	Het
Mfap5	G	A	6: 122,525,992	V54I	probably damaging	Het
Mvd	C	T	8: 122,439,703	R65H	probably benign	Het
Mybpc2	A	G	7: 44,516,904	Y221H	probably damaging	Het
Nbeal1	T	A	1: 60,305,309	I2323N	possibly damaging	Het
Olfr293	A	G	7: 86,664,294	S211G	probably benign	Het
Otol1	G	A	3: 70,018,683	A64T	probably benign	Het
Pcdh8	G	T	14: 79,768,148	D933E	probably damaging	Het
Pkd1	A	G	17: 24,581,276	T3004A	possibly damaging	Het
Pkhd1	T	A	1: 20,209,246	R2949S	probably damaging	Het
Ptpro	T	C	6: 137,386,352	Y495H	probably benign	Het
Rad54b	T	C	4: 11,599,681	V72A	possibly damaging	Het
Ranbp3	A	G	17: 56,709,338		probably benign	Het
Rpa2	T	C	4: 132,770,582	S52P	probably damaging	Het
Serping1	T	G	2: 84,773,276	R140S	probably benign	Het
Slc34a2	T	C	5: 53,063,968	F252S	probably benign	Het
Spata45	A	G	1: 191,039,862		probably benign	Het
Sptan1	T	C	2: 30,006,623	S1174P	probably benign	Het
Ss18l2	T	C	9: 121,712,633	L64P	probably benign	Het
Tmem81	A	G	1: 132,508,049	I198V	probably benign	Het
Trappc9	A	T	15: 72,894,929		probably benign	Het
Ubr3	C	T	2: 69,951,362	T628I	probably damaging	Het
Zzef1	C	T	11: 72,817,965	T130I	probably benign	Het

Other mutations in 1700006A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:1700006A11Rik	APN	3	124401409	missense	probably benign	0.30
IGL02552:1700006A11Rik	APN	3	124414496	missense	probably damaging	1.00
IGL03092:1700006A11Rik	APN	3	124406470	missense	probably damaging	1.00
R0097:1700006A11Rik	UTSW	3	124412480	missense	probably benign	0.13
R0097:1700006A11Rik	UTSW	3	124412480	missense	probably benign	0.13
R0184:1700006A11Rik	UTSW	3	124419250	missense	probably damaging	1.00
R0361:1700006A11Rik	UTSW	3	124413634	missense	possibly damaging	0.69
R1542:1700006A11Rik	UTSW	3	124414406	missense	possibly damaging	0.95
R1549:1700006A11Rik	UTSW	3	124416792	missense	probably benign	0.00
R1779:1700006A11Rik	UTSW	3	124406514	missense	probably damaging	0.99
R1839:1700006A11Rik	UTSW	3	124409720	missense	probably damaging	0.99
R1986:1700006A11Rik	UTSW	3	124419328	missense	probably damaging	0.99
R2042:1700006A11Rik	UTSW	3	124416728	splice site	probably benign
R2149:1700006A11Rik	UTSW	3	124409686	missense	probably benign	0.33
R2258:1700006A11Rik	UTSW	3	124413618	missense	possibly damaging	0.84
R2291:1700006A11Rik	UTSW	3	124413801	missense	probably damaging	1.00
R2509:1700006A11Rik	UTSW	3	124406453	missense	probably benign	0.44
R4912:1700006A11Rik	UTSW	3	124419856	missense	possibly damaging	0.68
R5074:1700006A11Rik	UTSW	3	124416833	missense	probably benign	0.01
R5303:1700006A11Rik	UTSW	3	124406350	missense	probably damaging	1.00
R5307:1700006A11Rik	UTSW	3	124406350	missense	probably damaging	1.00
R5308:1700006A11Rik	UTSW	3	124406350	missense	probably damaging	1.00
R5796:1700006A11Rik	UTSW	3	124421428	missense	possibly damaging	0.66
R6018:1700006A11Rik	UTSW	3	124416799	missense	probably damaging	1.00
R6198:1700006A11Rik	UTSW	3	124416850	splice site	probably null
R6504:1700006A11Rik	UTSW	3	124419920	missense	probably benign
R7124:1700006A11Rik	UTSW	3	124414393	missense	probably benign	0.04
R7248:1700006A11Rik	UTSW	3	124414310	critical splice donor site	probably null
R7351:1700006A11Rik	UTSW	3	124412510	missense	probably damaging	1.00
R7709:1700006A11Rik	UTSW	3	124407685	missense	probably damaging	1.00
R7773:1700006A11Rik	UTSW	3	124412531	missense	probably benign	0.00
R8193:1700006A11Rik	UTSW	3	124419868	missense	possibly damaging	0.84
R8201:1700006A11Rik	UTSW	3	124401397	missense	probably benign	0.00
R9157:1700006A11Rik	UTSW	3	124413571	missense	probably benign	0.22
R9313:1700006A11Rik	UTSW	3	124413571	missense	probably benign	0.22
R9585:1700006A11Rik	UTSW	3	124406344	missense	possibly damaging	0.73
R9683:1700006A11Rik	UTSW	3	124406446	missense	probably benign	0.01
R9721:1700006A11Rik	UTSW	3	124419283	missense	probably benign	0.00
X0063:1700006A11Rik	UTSW	3	124419862	missense	probably benign

Posted On

2013-01-20