Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02552:1700006A11Rik'

298163

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700006A11Rik

Ensembl Gene

ENSMUSG00000027973

Gene Name

RIKEN cDNA 1700006A11 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

IGL02552

Quality Score

Status

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124414496 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 178 (L178S)

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: L178S

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

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: L178S

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010005H15Rik	A	G	16: 36,253,089	E15G	probably damaging	Het
9130409I23Rik	T	A	1: 181,054,898	V75E	possibly damaging	Het
Abca12	A	G	1: 71,294,747	Y1199H	probably damaging	Het
Abcc9	T	C	6: 142,605,919	D1221G	possibly damaging	Het
Apc	T	A	18: 34,312,982	M977K	possibly damaging	Het
Arhgap30	T	A	1: 171,407,756	L566Q	probably damaging	Het
Arhgap40	T	A	2: 158,546,801	W552R	probably benign	Het
Astn1	C	T	1: 158,505,395	S349F	possibly damaging	Het
Bard1	T	C	1: 71,065,656		probably benign	Het
Batf2	T	A	19: 6,171,507	Y116N	probably benign	Het
Cbx6	T	C	15: 79,828,893	H111R	probably damaging	Het
Cd44	T	A	2: 102,848,731	N242I	probably benign	Het
Cdnf	C	T	2: 3,523,975	Q184*	probably null	Het
Chd2	C	A	7: 73,447,320		probably benign	Het
Cmtm6	G	A	9: 114,737,306	V88M	probably damaging	Het
Col24a1	C	A	3: 145,474,207	S1151R	possibly damaging	Het
Dnajc2	T	C	5: 21,783,063	D6G	probably damaging	Het
Eif3a	G	A	19: 60,763,226		probably benign	Het
Fbn1	C	A	2: 125,412,713	C210F	possibly damaging	Het
Fmn2	T	A	1: 174,695,720	D1380E	probably damaging	Het
Fry	A	T	5: 150,380,910	K588N	probably damaging	Het
Gm18856	G	A	13: 13,965,220		probably benign	Het
Gpr37	G	T	6: 25,688,687	T137K	probably benign	Het
Gzmc	T	C	14: 56,234,582	M1V	probably null	Het
Htr5a	T	C	5: 27,842,960	V171A	probably benign	Het
Ints6l	T	C	X: 56,455,197		probably benign	Het
Kcnma1	C	T	14: 23,386,259		probably null	Het
Krt35	C	T	11: 100,093,073	G367D	probably benign	Het
Nlrp1b	C	T	11: 71,182,052	V322I	possibly damaging	Het
Nlrp1b	C	T	11: 71,172,231	V668I	possibly damaging	Het
Ntf3	T	C	6: 126,101,860	N228D	probably damaging	Het
Nup133	G	A	8: 123,929,255	R496W	possibly damaging	Het
Olfr1258	T	C	2: 89,930,559	V250A	probably benign	Het
Olfr640	C	A	7: 104,022,256	G21W	probably damaging	Het
Pah	C	T	10: 87,578,845		probably benign	Het
Pan2	G	T	10: 128,319,027	W1112L	probably damaging	Het
Pkn3	G	A	2: 30,080,867	R209Q	probably damaging	Het
Plaa	C	T	4: 94,582,480		probably null	Het
Qprt	C	T	7: 127,108,855	A135T	probably damaging	Het
Rbbp6	T	G	7: 122,982,981	S108A	probably damaging	Het
Smg1	T	A	7: 118,195,894		probably benign	Het
Spink5	T	A	18: 43,992,168	C368S	possibly damaging	Het
Sptan1	T	A	2: 30,018,474	I1734N	probably damaging	Het
Stk38l	C	T	6: 146,767,533	L170F	probably damaging	Het
Tesmin	C	T	19: 3,402,483		probably benign	Het
Tjp1	A	T	7: 65,299,782	C1697*	probably null	Het
Tmco4	T	C	4: 139,058,379	S587P	probably benign	Het
Tmem208	G	A	8: 105,328,697		probably null	Het
Trim30d	T	C	7: 104,472,416	Q224R	probably damaging	Het
Trpm7	T	A	2: 126,840,779	D390V	probably damaging	Het
Uba7	A	G	9: 107,981,390	I807V	probably benign	Het
Uhrf1bp1l	T	A	10: 89,806,743	L10*	probably null	Het
Utp18	C	A	11: 93,868,334	C438F	probably damaging	Het
Vps13d	T	C	4: 145,173,137	K191E	possibly damaging	Het
Wdr27	A	G	17: 14,926,191	S181P	probably damaging	Het
Zfp462	T	C	4: 55,010,613	Y860H	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
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
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

2015-04-16