Mutagenetix > Incidental Mutation

Incidental Mutation 'R2258:1700006A11Rik'

243515

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

040258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R2258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 124413618 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 308 (N308S)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

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

AlphaFold

B9EHI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029598
AA Change: N308S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: N308S

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	A	T	12: 84,075,869	H409L	possibly damaging	Het
Ang4	A	G	14: 51,764,498		probably benign	Het
Ap3d1	A	G	10: 80,721,132	S315P	probably benign	Het
Arhgap15	G	A	2: 44,386,347	G437R	probably damaging	Het
Cacna2d1	T	C	5: 16,357,289	C810R	probably damaging	Het
Capn5	A	G	7: 98,135,875	W131R	probably damaging	Het
Ccnj	A	G	19: 40,845,833	Q292R	probably benign	Het
Cd177	A	G	7: 24,756,236	V287A	possibly damaging	Het
Cdk5r2	T	C	1: 74,855,900	L268P	probably damaging	Het
Clrn2	A	G	5: 45,453,962	D51G	probably benign	Het
Cntd1	T	C	11: 101,284,856	S174P	probably damaging	Het
Col11a2	A	G	17: 34,039,677	H8R	probably benign	Het
Col17a1	C	T	19: 47,681,377		probably null	Het
Cyp2a5	A	G	7: 26,837,103	D169G	possibly damaging	Het
Cyp2c37	A	G	19: 39,995,859	I264V	possibly damaging	Het
Cyp2j12	A	G	4: 96,133,078	I97T	probably damaging	Het
Eif3b	T	C	5: 140,427,503	F354L	possibly damaging	Het
Entpd2	C	T	2: 25,398,087	P108S	probably damaging	Het
F5	T	A	1: 164,192,181	S742T	probably damaging	Het
Fam187a	A	G	11: 102,885,298		probably benign	Het
Fam43b	G	C	4: 138,395,098	R304G	probably benign	Het
Fam69b	T	C	2: 26,635,150	L157P	probably damaging	Het
Flnc	G	A	6: 29,438,666	W186*	probably null	Het
Fndc3b	G	T	3: 27,440,160	Q939K	possibly damaging	Het
Gja4	C	A	4: 127,312,830	D47Y	probably damaging	Het
Gm11565	T	G	11: 99,915,018	C79G	possibly damaging	Het
Gm17689	C	A	9: 36,581,865	V54L	probably benign	Het
Gm5065	A	G	7: 5,359,402	M11V	probably benign	Het
Gm8994	A	T	6: 136,328,561	M7L	probably benign	Het
Gpbar1	T	C	1: 74,279,005	F136L	probably benign	Het
Gsn	G	A	2: 35,290,337	G130E	probably damaging	Het
Hecw1	A	T	13: 14,316,138	D756E	probably benign	Het
Hrasls5	C	T	19: 7,612,746	R46C	probably damaging	Het
Hrc	C	A	7: 45,336,681	R419S	possibly damaging	Het
Inpp4a	T	A	1: 37,377,696	S433T	probably damaging	Het
Ism2	C	A	12: 87,280,074	V320L	possibly damaging	Het
Krt8	G	T	15: 101,998,822	D275E	probably benign	Het
Lyg2	A	C	1: 37,908,996	N132K	probably benign	Het
Lyst	G	A	13: 13,637,658	R885Q	probably benign	Het
Marveld2	A	G	13: 100,612,470	S34P	probably benign	Het
Mcc	C	A	18: 44,475,136	G355W	probably damaging	Het
Mettl7a1	A	T	15: 100,313,168	I174F	probably benign	Het
Mllt6	T	C	11: 97,664,976	V44A	probably damaging	Het
Mrgpra3	A	T	7: 47,590,094	M28K	probably benign	Het
Ms4a15	A	G	19: 10,984,795	C47R	probably benign	Het
Muc5ac	A	G	7: 141,791,008	N72S	probably benign	Het
Myo18b	C	T	5: 112,874,663		probably benign	Het
Nat8f4	A	T	6: 85,901,225	H105Q	possibly damaging	Het
Ncapd3	A	G	9: 27,056,072	D568G	probably benign	Het
Nptx1	T	G	11: 119,543,316	I315L	probably benign	Het
Nrap	T	C	19: 56,321,962	R1534G	possibly damaging	Het
Nwd2	C	A	5: 63,805,156	N694K	probably benign	Het
Oas1c	G	A	5: 120,803,017	A35V	probably null	Het
Olfr1350	A	T	7: 6,570,023	I11F	probably damaging	Het
Olfr1532-ps1	A	G	7: 106,914,906	K236R	probably damaging	Het
Olfr482	C	T	7: 108,095,195	R125H	possibly damaging	Het
Olfr933	T	C	9: 38,976,000	V108A	probably benign	Het
Pde2a	A	T	7: 101,484,567	D85V	probably damaging	Het
Prex1	C	T	2: 166,587,157	V839I	probably benign	Het
Psmd3	T	A	11: 98,690,964	M305K	probably benign	Het
Rbm20	T	C	19: 53,851,741	S1054P	probably benign	Het
Rhox13	G	C	X: 38,121,344	E19Q	unknown	Het
Ryr2	A	G	13: 11,738,216	F1740L	possibly damaging	Het
Sox1	C	A	8: 12,396,927	N189K	possibly damaging	Het
Spta1	C	A	1: 174,174,341	S12R	possibly damaging	Het
Stard13	A	G	5: 151,039,731	L971P	probably damaging	Het
Tigd4	T	A	3: 84,594,293	N172K	probably benign	Het
Ttyh1	T	C	7: 4,128,184	V218A	probably damaging	Het
Twistnb	A	G	12: 33,433,588	H113R	probably damaging	Het
Unc45b	T	A	11: 82,917,799	M237K	probably benign	Het
Vldlr	A	G	19: 27,238,386	D220G	probably damaging	Het
Vps13c	A	G	9: 67,953,860	N2891S	probably benign	Het
Wdr25	T	A	12: 108,898,174	S82T	possibly damaging	Het
Wdr66	C	G	5: 123,283,348		probably null	Het
Wnk4	C	A	11: 101,275,035	P796Q	probably damaging	Het
Xpo5	C	T	17: 46,240,896	Q1050*	probably null	Het
Zc3h15	G	A	2: 83,657,016	V60I	probably benign	Het
Zfp629	G	A	7: 127,611,791	T282M	probably damaging	Het
Zscan22	T	G	7: 12,903,960	V93G	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCCTGAGGGTATACTTCAAAATG -3'
(R):5'- CACAAAGTGACAGAGGCTCTC -3'

Sequencing Primer
(F):5'- GGTTTTAGTAAATGCTACATTTCCAC -3'
(R):5'- CCCTTGTAAAATTTCTCATCGAAAAC -3'

Posted On

2014-10-16