Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01087:I830077J02Rik'

50720

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

I830077J02Rik

Ensembl Gene

ENSMUSG00000074342

Gene Name

RIKEN cDNA I830077J02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

IGL01087

Quality Score

Status

Chromosome

Chromosomal Location

105831674-105839980 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 105836049 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096354 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010279] [ENSMUST00000098758] [ENSMUST00000198080] [ENSMUST00000199977] [ENSMUST00000200482]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000010279

SMART Domains

Protein: ENSMUSP00000010279
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	3.94e0	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000098758

SMART Domains

Protein: ENSMUSP00000096354
Gene: ENSMUSG00000074342

Domain	Start	End	E-Value	Type
transmembrane domain	36	58	N/A	INTRINSIC
low complexity region	80	89	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126230

Predicted Effect

probably benign
Transcript: ENSMUST00000196099

Predicted Effect

probably benign
Transcript: ENSMUST00000198080

SMART Domains

Protein: ENSMUSP00000143300
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	3.94e0	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000199977

SMART Domains

Protein: ENSMUSP00000142671
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	1.6e-2	SMART
transmembrane domain	151	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200482

SMART Domains

Protein: ENSMUSP00000142695
Gene: ENSMUSG00000074344

Domain	Start	End	E-Value	Type
low complexity region	3	13	N/A	INTRINSIC
IG	20	115	1.6e-2	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	T	6: 83,139,770 (GRCm39)		probably null	Het
Abca6	C	A	11: 110,082,476 (GRCm39)	A1166S	probably benign	Het
Arhgdib	C	A	6: 136,910,622 (GRCm39)	K46N	probably damaging	Het
Ash1l	T	A	3: 88,971,209 (GRCm39)	V2507D	probably damaging	Het
B4galnt1	A	T	10: 127,002,060 (GRCm39)	I63F	probably damaging	Het
Bclaf1	A	G	10: 20,201,056 (GRCm39)	D394G	probably damaging	Het
Btbd10	T	C	7: 112,915,763 (GRCm39)	D442G	probably damaging	Het
Cd44	A	T	2: 102,652,607 (GRCm39)	L492H	probably damaging	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Chsy1	T	G	7: 65,821,874 (GRCm39)	V703G	possibly damaging	Het
Clrn2	T	C	5: 45,621,311 (GRCm39)		probably benign	Het
Crtc3	T	C	7: 80,248,487 (GRCm39)		probably benign	Het
Cul1	A	G	6: 47,485,978 (GRCm39)	T342A	probably benign	Het
Dgki	T	C	6: 36,989,846 (GRCm39)	D631G	probably damaging	Het
Eif3b	T	C	5: 140,426,862 (GRCm39)	I706T	probably damaging	Het
Fam120a	A	G	13: 49,055,549 (GRCm39)	L713P	probably damaging	Het
Jmjd8	A	C	17: 26,048,145 (GRCm39)		probably benign	Het
Kmt5a	T	C	5: 124,589,443 (GRCm39)		probably benign	Het
Krt87	C	A	15: 101,329,706 (GRCm39)	C486F	probably benign	Het
Lrp2	A	T	2: 69,354,417 (GRCm39)	N470K	probably damaging	Het
Med1	C	A	11: 98,071,111 (GRCm39)	D79Y	probably damaging	Het
Myo1d	A	G	11: 80,573,261 (GRCm39)	S189P	probably damaging	Het
Myo9a	T	A	9: 59,697,361 (GRCm39)	Y381N	possibly damaging	Het
Nipbl	C	A	15: 8,379,981 (GRCm39)	S937I	possibly damaging	Het
Nlrp4g	A	G	9: 124,353,858 (GRCm38)		noncoding transcript	Het
Nutm2	A	G	13: 50,623,665 (GRCm39)	T121A	probably damaging	Het
Opa1	C	T	16: 29,405,815 (GRCm39)	P127S	probably damaging	Het
Or2h1b	C	T	17: 37,462,332 (GRCm39)	C177Y	probably damaging	Het
Pcdh15	A	T	10: 74,178,464 (GRCm39)	I574F	possibly damaging	Het
Pcnx1	G	A	12: 82,042,113 (GRCm39)		probably benign	Het
Prex2	A	G	1: 11,138,328 (GRCm39)	T136A	probably benign	Het
Prph2	A	G	17: 47,222,085 (GRCm39)	T155A	probably damaging	Het
Rsl1d1	T	C	16: 11,012,539 (GRCm39)	K296E	possibly damaging	Het
Syne1	A	T	10: 5,375,708 (GRCm39)	I128N	probably damaging	Het
Tlk1	A	T	2: 70,582,660 (GRCm39)	N156K	possibly damaging	Het
Trem2	C	T	17: 48,658,956 (GRCm39)	T222I	probably damaging	Het
Trip12	A	T	1: 84,735,580 (GRCm39)	F872L	probably damaging	Het
Trrap	T	A	5: 144,783,349 (GRCm39)	S3393T	probably damaging	Het
Vwa8	T	A	14: 79,172,669 (GRCm39)	S304T	probably benign	Het
Zc3h7a	T	C	16: 10,971,046 (GRCm39)	T328A	probably benign	Het

Other mutations in I830077J02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02034:I830077J02Rik	APN	3	105,834,565 (GRCm39)	unclassified	probably benign
PIT4618001:I830077J02Rik	UTSW	3	105,833,886 (GRCm39)	missense	probably damaging	1.00
R0115:I830077J02Rik	UTSW	3	105,833,886 (GRCm39)	missense	probably damaging	1.00
R0207:I830077J02Rik	UTSW	3	105,833,821 (GRCm39)	missense	probably benign	0.34
R2427:I830077J02Rik	UTSW	3	105,835,320 (GRCm39)	missense	probably damaging	0.96
R6841:I830077J02Rik	UTSW	3	105,833,830 (GRCm39)	missense	possibly damaging	0.87
R8130:I830077J02Rik	UTSW	3	105,834,233 (GRCm39)	missense	possibly damaging	0.92
R8139:I830077J02Rik	UTSW	3	105,835,314 (GRCm39)	missense	probably benign	0.23
R8443:I830077J02Rik	UTSW	3	105,836,060 (GRCm39)	missense	probably damaging	0.98
R8792:I830077J02Rik	UTSW	3	105,835,104 (GRCm39)	unclassified	probably benign
Z1088:I830077J02Rik	UTSW	3	105,834,529 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21