Mutagenetix > Incidental Mutation

Incidental Mutation 'R0097:1700006A11Rik'

17202

Institutional Source

Beutler Lab

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

MMRRC Submission

038383-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R0097 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124412480 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 353 (I353K)

Ref Sequence

ENSEMBL: ENSMUSP00000029598 (fasta)

Gene Model

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

AlphaFold

B9EHI3

Predicted Effect

probably benign
Transcript: ENSMUST00000029598
AA Change: I353K

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: I353K

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 89.4%
3x: 86.4%
10x: 78.0%
20x: 64.9%

Validation Efficiency

86% (56/65)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5830473C10Rik	T	A	5: 90,584,936	S535R	probably benign	Het
Arfgap2	T	A	2: 91,274,815	V422E	probably benign	Het
Baz1b	T	C	5: 135,198,259	S105P	probably benign	Het
Cacna1s	T	A	1: 136,100,622	M899K	possibly damaging	Het
Ccnd2	G	A	6: 127,146,052	A180V	probably benign	Het
Dmrta1	A	T	4: 89,688,872	R188S	probably benign	Het
Eml3	T	A	19: 8,936,651	F465L	probably benign	Het
Gm9938	T	A	19: 23,724,464		probably benign	Het
Gpr87	G	A	3: 59,179,085	T333I	probably damaging	Het
Lzic	A	G	4: 149,488,076	E41G	probably damaging	Het
Mprip	T	A	11: 59,758,491	L1007Q	possibly damaging	Het
Mtfr2	T	A	10: 20,348,376	S19T	probably damaging	Het
Mycbp2	A	T	14: 103,155,762	M3121K	probably damaging	Het
Myocd	T	A	11: 65,179,014	M667L	possibly damaging	Het
Narfl	T	C	17: 25,777,002	S67P	possibly damaging	Het
Neb	T	C	2: 52,204,894	N4882S	probably damaging	Het
Neo1	T	C	9: 58,882,021		probably benign	Het
Neu2	A	G	1: 87,597,466	D391G	probably benign	Het
Nol4	C	A	18: 22,719,141	A456S	probably benign	Het
Olfr1025-ps1	T	C	2: 85,918,840	V305A	probably benign	Het
Padi6	C	T	4: 140,730,957	V513M	probably benign	Het
Prss38	A	G	11: 59,375,608	L8S	possibly damaging	Het
Rab5b	A	T	10: 128,682,940	F108I	probably damaging	Het
Ryr3	T	C	2: 112,800,055	D2157G	probably damaging	Het
Secisbp2l	T	C	2: 125,771,456	D206G	probably damaging	Het
Sh3pxd2b	T	A	11: 32,403,978	I182N	probably damaging	Het
Slc3a1	A	T	17: 85,032,860	I237F	probably damaging	Het
St6galnac6	T	C	2: 32,599,802	L8P	probably damaging	Het
T	A	T	17: 8,439,901		probably benign	Het
Tenm4	A	T	7: 96,892,926	D1882V	probably damaging	Het
Tgfbr1	T	A	4: 47,403,451	L283*	probably null	Het
Ubp1	T	C	9: 113,973,507		probably benign	Het
Ushbp1	C	T	8: 71,390,713	C314Y	probably damaging	Het
Vav2	A	T	2: 27,299,362		probably benign	Het
Vmn1r228	T	C	17: 20,776,363	M298V	probably benign	Het
Zmpste24	A	T	4: 121,095,543		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
R0094:1700006A11Rik	UTSW	3	124409778	splice site	probably benign
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