Mutagenetix > Incidental Mutation

Incidental Mutation 'R2291:1700006A11Rik'

244332

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

040290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2291 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124413801 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 247 (I247N)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

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

AlphaFold

B9EHI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029598
AA Change: I247N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: I247N

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 13,888,891	K1559E	probably damaging	Het
Ankhd1	C	T	18: 36,644,333	T1523I	probably benign	Het
Apc	T	A	18: 34,312,491	N795K	probably benign	Het
Arhgap26	G	T	18: 39,357,698		probably benign	Het
Atm	C	T	9: 53,490,909		probably null	Het
Atp1a4	T	C	1: 172,244,906	N394D	probably damaging	Het
Brinp3	T	A	1: 146,901,074	S420T	possibly damaging	Het
Cacna1d	G	T	14: 30,042,342	R2078S	probably damaging	Het
Cacna1e	T	C	1: 154,403,683	D1720G	probably damaging	Het
Camk2a	T	A	18: 60,963,959	V38E	probably damaging	Het
Camk4	G	A	18: 33,107,943		probably null	Het
Ccr7	G	A	11: 99,145,335	R254C	probably damaging	Het
Celf5	C	T	10: 81,467,047	G267D	probably damaging	Het
Cfap65	G	A	1: 74,926,475	P459S	probably damaging	Het
Chd1l	T	C	3: 97,591,283	K267E	probably damaging	Het
Chl1	T	A	6: 103,715,393	Y331N	probably damaging	Het
Cltc	G	A	11: 86,733,622	T158I	probably benign	Het
Col16a1	T	A	4: 130,067,040	D430E	unknown	Het
Cspg4	T	C	9: 56,892,743	V1597A	probably damaging	Het
Cstf2t	T	A	19: 31,084,864	L600H	probably benign	Het
Cyp27b1	T	C	10: 127,048,294	V5A	possibly damaging	Het
Depdc5	C	A	5: 32,979,402	Q1339K	probably damaging	Het
Diaph3	G	T	14: 86,966,446	P592Q	probably damaging	Het
Epha8	T	C	4: 136,933,347	M687V	probably damaging	Het
Fhod1	T	A	8: 105,336,964		probably benign	Het
Gls2	C	A	10: 128,207,610	S73*	probably null	Het
Gm3604	T	A	13: 62,371,843	M33L	probably damaging	Het
Gpr39	A	G	1: 125,677,541	T69A	probably benign	Het
Hal	T	C	10: 93,503,536	F496L	probably damaging	Het
Hipk1	T	C	3: 103,761,610	E490G	probably damaging	Het
Ints7	T	G	1: 191,606,203		probably null	Het
Itpr3	A	G	17: 27,113,579	E1799G	possibly damaging	Het
Kif11	T	A	19: 37,407,003	M570K	probably benign	Het
Kif18b	G	T	11: 102,908,270	Q702K	probably damaging	Het
Kif19a	A	G	11: 114,790,193	T247A	probably damaging	Het
Lama3	A	G	18: 12,525,079	E360G	probably damaging	Het
Loxl3	G	T	6: 83,037,488	A126S	probably benign	Het
Mc5r	C	T	18: 68,339,364	R265W	probably damaging	Het
Mpl	A	G	4: 118,449,000	V340A	probably benign	Het
Mrpl13	G	T	15: 55,548,219	H56Q	probably damaging	Het
Msr1	T	C	8: 39,624,222	T116A	probably benign	Het
N4bp3	T	C	11: 51,646,103	K48E	probably damaging	Het
Naaladl1	A	G	19: 6,106,195	T104A	probably benign	Het
Neu1	C	T	17: 34,932,766	R179W	probably damaging	Het
Olfr1053	A	T	2: 86,315,180	Y35*	probably null	Het
Olfr975	T	C	9: 39,950,334	T146A	probably benign	Het
Osbp	G	T	19: 11,973,834	E248*	probably null	Het
Otx1	T	A	11: 21,996,634		probably benign	Het
Parp4	A	T	14: 56,613,817	Q759L	probably damaging	Het
Pax6	A	C	2: 105,685,883	S169R	probably benign	Het
Pigg	T	G	5: 108,332,917	I389M	probably damaging	Het
Pla2g4a	C	A	1: 149,901,189	V59F	probably damaging	Het
Plcb4	A	T	2: 135,939,983	Q241H	probably benign	Het
Plpp6	A	G	19: 28,964,320	D107G	probably damaging	Het
Ppp6r2	T	A	15: 89,275,487	L459Q	probably damaging	Het
Prss55	A	T	14: 64,075,722	W238R	probably damaging	Het
Rgl1	C	T	1: 152,536,281	E446K	probably damaging	Het
Ric3	C	T	7: 109,038,883	G221D	probably damaging	Het
Rnf167	T	C	11: 70,649,303	F83S	probably damaging	Het
Ryr1	C	T	7: 29,098,777	V947M	probably damaging	Het
Scn1a	A	G	2: 66,288,968	L1397P	probably benign	Het
Sh3bp1	T	A	15: 78,918,319	V251E	possibly damaging	Het
Slc25a10	A	T	11: 120,497,074	I198L	probably benign	Het
Smoc2	A	T	17: 14,368,971	N234I	possibly damaging	Het
Spdl1	T	A	11: 34,819,309	K382*	probably null	Het
Ssrp1	G	A	2: 85,042,316		probably null	Het
Tril	G	T	6: 53,818,027	R737S	probably damaging	Het
Triqk	T	A	4: 12,974,817		probably null	Het
Ttc19	T	C	11: 62,283,693	Y128H	probably damaging	Het
Vmn1r15	T	C	6: 57,258,692	S182P	possibly damaging	Het
Vmn1r226	A	G	17: 20,688,213	I236V	probably damaging	Het
Vmn2r120	A	C	17: 57,509,479	N625K	probably damaging	Het
Vmn2r78	T	C	7: 86,920,154	I85T	probably damaging	Het
Wdr60	A	T	12: 116,229,571		probably null	Het
Whamm	C	T	7: 81,591,771	R277*	probably null	Het
Wnt7a	C	T	6: 91,394,486	V165I	probably benign	Het
Zbtb40	A	T	4: 136,985,017	Y1127N	possibly damaging	Het
Zfyve1	A	T	12: 83,547,931	H762Q	probably damaging	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
R0094:1700006A11Rik	UTSW	3	124409778	splice site	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GGGCACTGAATTGTTGCCTG -3'
(R):5'- TTACATCTGGTCTCAAGATAGTCC -3'

Sequencing Primer
(F):5'- TGTAGGGCATGTCATCCCAC -3'
(R):5'- CAGTTCTAACCTCTAAGCTCC -3'

Posted On

2014-10-30