Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01118:1700006A11Rik'

50759

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: 0.055) question?

Stock #

IGL01118

Quality Score

Status

Chromosome

Chromosomal Location

124400989-124426040 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 124401409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 539 (R539Q)

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: R539Q

PolyPhen 2 Score 0.300 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029598
Gene: ENSMUSG00000027973
AA Change: R539Q

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: ENSMUST00000196005

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196028

Predicted Effect

probably benign
Transcript: ENSMUST00000198630

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,674,687	R40H	probably damaging	Het
Acan	T	A	7: 79,098,653	S1057R	possibly damaging	Het
Ahnak	A	T	19: 9,012,578	D3742V	probably damaging	Het
Amdhd1	A	T	10: 93,531,568	D241E	probably benign	Het
Cntn5	T	C	9: 9,831,560	Y605C	possibly damaging	Het
Dgcr14	A	T	16: 17,902,932	I350N	probably damaging	Het
Dnmt3l	T	C	10: 78,057,286	F299S	probably damaging	Het
G6pd2	A	T	5: 61,810,063	M394L	probably benign	Het
Gm21319	T	A	12: 87,773,442	N116Y	probably damaging	Het
Gm9839	A	T	1: 32,519,843	M386K	probably benign	Het
Gtf2h3	T	C	5: 124,595,668	V268A	probably damaging	Het
Hgs	T	C	11: 120,475,214	V195A	probably damaging	Het
Igkv3-2	A	T	6: 70,698,994	S96C	probably damaging	Het
Mgl2	A	G	11: 70,134,189	E12G	probably benign	Het
Mup11	A	T	4: 60,659,780	F153I	probably damaging	Het
Nf1	T	A	11: 79,546,986	C2057S	probably damaging	Het
Nkrf	A	G	X: 36,888,757	F624S	probably damaging	Het
Noto	T	C	6: 85,424,210	S74P	probably benign	Het
Olfr1090	A	G	2: 86,753,970	I256T	probably benign	Het
Pax8	T	C	2: 24,442,932		probably benign	Het
Psg28	A	T	7: 18,428,092	V162D	probably damaging	Het
Rai1	T	C	11: 60,187,438	F776S	probably damaging	Het
Taar8a	A	T	10: 24,076,861	H121L	probably damaging	Het
Tas2r113	A	G	6: 132,893,315	N102S	probably benign	Het
Trpm1	A	G	7: 64,235,824	T863A	probably benign	Het
Ttf2	A	G	3: 100,967,097		probably benign	Het
Wdr62	T	C	7: 30,242,781	H611R	probably damaging	Het
Wdr90	A	T	17: 25,854,687	L762Q	probably damaging	Het
Yeats2	T	G	16: 20,186,304	S364A	probably damaging	Het
Zdhhc15	G	T	X: 104,598,106	Q82K	probably benign	Het

Other mutations in 1700006A11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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
X0063:1700006A11Rik	UTSW	3	124419862	missense	probably benign

Posted On

2013-06-21