Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00793:1700102P08Rik'

12411

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700102P08Rik

Ensembl Gene

ENSMUSG00000032611

Gene Name

RIKEN cDNA 1700102P08 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

IGL00793

Quality Score

Status

Chromosome

Chromosomal Location

108270023-108275416 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108274605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 236 (D236G)

Ref Sequence

ENSEMBL: ENSMUSP00000035234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035234] [ENSMUST00000035237] [ENSMUST00000192995] [ENSMUST00000194959]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000035234
AA Change: D236G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035237

SMART Domains

Protein: ENSMUSP00000035237
Gene: ENSMUSG00000032612

Domain	Start	End	E-Value	Type
DUSP	27	125	1.39e-46	SMART
Pfam:Ubiquitin_3	139	226	6.7e-34	PFAM
low complexity region	263	286	N/A	INTRINSIC
Pfam:UCH	301	919	2.2e-84	PFAM
Pfam:UCH_1	302	507	2.8e-8	PFAM
Pfam:UCH_1	605	901	1.4e-15	PFAM
low complexity region	927	938	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192995

Predicted Effect

probably benign
Transcript: ENSMUST00000194959

SMART Domains

Protein: ENSMUSP00000141368
Gene: ENSMUSG00000032612

Domain	Start	End	E-Value	Type
DUSP	27	125	5.5e-49	SMART
Pfam:Ubiquitin_3	139	226	1.7e-30	PFAM
Pfam:UCH	254	872	7e-89	PFAM
Pfam:UCH_1	255	469	3.5e-8	PFAM
Pfam:UCH_1	566	854	2.5e-14	PFAM
low complexity region	880	891	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031410I06Rik	T	C	5: 26,309,153 (GRCm39)	R50G	probably damaging	Het
Adam32	A	T	8: 25,327,846 (GRCm39)		probably benign	Het
Adm	A	G	7: 110,227,788 (GRCm39)	Y52C	probably damaging	Het
Aff4	A	G	11: 53,302,817 (GRCm39)	T1097A	probably damaging	Het
Ccne1	A	C	7: 37,805,726 (GRCm39)	V50G	probably benign	Het
Copb2	A	G	9: 98,467,057 (GRCm39)	T636A	probably benign	Het
Cxadr	C	A	16: 78,131,115 (GRCm39)	Y210*	probably null	Het
Dnajc17	T	C	2: 119,011,441 (GRCm39)	E163G	probably benign	Het
Dnmt3b	T	A	2: 153,514,422 (GRCm39)	M405K	possibly damaging	Het
Enpp7	A	T	11: 118,881,371 (GRCm39)	N172I	probably damaging	Het
G2e3	T	A	12: 51,414,545 (GRCm39)	S340T	probably benign	Het
Kat2b	A	G	17: 53,972,852 (GRCm39)	N722S	probably benign	Het
Kcnh5	C	A	12: 75,161,120 (GRCm39)	V263F	probably damaging	Het
Ldlrad1	A	G	4: 107,075,086 (GRCm39)	D211G	probably damaging	Het
Lrp1	A	G	10: 127,378,074 (GRCm39)	V4082A	possibly damaging	Het
Maco1	A	G	4: 134,555,517 (GRCm39)	S319P	probably damaging	Het
Mycbp2	A	T	14: 103,364,189 (GRCm39)	V4370D	possibly damaging	Het
Npsr1	G	T	9: 24,165,989 (GRCm39)	R125L	probably damaging	Het
Osbpl9	T	C	4: 108,944,628 (GRCm39)	I116V	probably damaging	Het
Parp4	G	T	14: 56,840,334 (GRCm39)	A580S	possibly damaging	Het
Pfkm	T	C	15: 98,023,475 (GRCm39)	V391A	probably benign	Het
Psen1	T	A	12: 83,769,792 (GRCm39)	S170T	probably damaging	Het
Rsbn1l	C	T	5: 21,101,153 (GRCm39)	V796I	probably benign	Het
Slc39a8	A	G	3: 135,590,494 (GRCm39)	I396V	probably benign	Het
Spag16	T	C	1: 70,338,809 (GRCm39)	C436R	probably damaging	Het
Stpg1	A	G	4: 135,233,718 (GRCm39)		probably benign	Het
Tmem86b	A	G	7: 4,631,756 (GRCm39)		probably benign	Het
Trf	A	G	9: 103,103,342 (GRCm39)		probably benign	Het
Trim61	A	T	8: 65,466,743 (GRCm39)	Y173N	possibly damaging	Het
Wrap73	T	C	4: 154,237,096 (GRCm39)	S228P	probably damaging	Het
Zfc3h1	T	C	10: 115,252,779 (GRCm39)	V1364A	probably benign	Het

Other mutations in 1700102P08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1199:1700102P08Rik	UTSW	9	108,270,676 (GRCm39)	missense	possibly damaging	0.71
R1885:1700102P08Rik	UTSW	9	108,270,809 (GRCm39)	missense	possibly damaging	0.84
R1886:1700102P08Rik	UTSW	9	108,270,809 (GRCm39)	missense	possibly damaging	0.84
R1887:1700102P08Rik	UTSW	9	108,270,809 (GRCm39)	missense	possibly damaging	0.84
R4455:1700102P08Rik	UTSW	9	108,274,395 (GRCm39)	missense	possibly damaging	0.65
R4926:1700102P08Rik	UTSW	9	108,272,498 (GRCm39)	missense	probably damaging	0.98
R5282:1700102P08Rik	UTSW	9	108,270,439 (GRCm39)	start codon destroyed	probably null	1.00
R5645:1700102P08Rik	UTSW	9	108,274,403 (GRCm39)	missense	probably damaging	1.00
R6318:1700102P08Rik	UTSW	9	108,270,474 (GRCm39)	missense	possibly damaging	0.71
R7035:1700102P08Rik	UTSW	9	108,272,510 (GRCm39)	missense	possibly damaging	0.86
R7635:1700102P08Rik	UTSW	9	108,274,605 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-12-06