Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01886:C130026I21Rik'

279007

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C130026I21Rik

Ensembl Gene

ENSMUSG00000052477

Gene Name

RIKEN cDNA C130026I21 gene

Synonyms

OTTMUSG00000029174

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.265) question?

Stock #

IGL01886

Quality Score

Status

Chromosome

Chromosomal Location

84992690-85270566 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 85254186 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064341] [ENSMUST00000093506] [ENSMUST00000159582] [ENSMUST00000161267] [ENSMUST00000162421]

AlphaFold

Q8C898

Predicted Effect

probably benign
Transcript: ENSMUST00000064341

SMART Domains

Protein: ENSMUSP00000066587
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	2.8e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093506

SMART Domains

Protein: ENSMUSP00000091224
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	24	122	1.1e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159582

SMART Domains

Protein: ENSMUSP00000125160
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	125	6.1e-39	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161267

SMART Domains

Protein: ENSMUSP00000124435
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	23	119	1.8e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161685

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162347

Predicted Effect

probably benign
Transcript: ENSMUST00000162421

SMART Domains

Protein: ENSMUSP00000125215
Gene: ENSMUSG00000052477

Domain	Start	End	E-Value	Type
Pfam:Sp100	40	135	2.2e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166777

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akt1	C	T	12: 112,659,158	V136M	probably benign	Het
Ankrd34c	A	T	9: 89,730,265	L8M	possibly damaging	Het
Anks6	C	A	4: 47,044,850	W352L	probably damaging	Het
Arhgap12	A	T	18: 6,027,613	N768K	probably damaging	Het
Clec7a	A	T	6: 129,463,177		probably benign	Het
Cyp3a13	G	A	5: 137,898,820	P411S	probably damaging	Het
Elavl2	A	G	4: 91,264,093	V129A	probably damaging	Het
Ercc6	T	A	14: 32,569,580	S994T	possibly damaging	Het
Esco1	T	A	18: 10,595,262	K8I	probably damaging	Het
Esr1	T	A	10: 4,856,861	I259K	probably damaging	Het
Filip1l	A	G	16: 57,571,250	I734V	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Grin3a	T	A	4: 49,702,814	I891F	probably damaging	Het
Kat7	T	C	11: 95,306,133	T27A	probably benign	Het
Kdm1a	A	G	4: 136,561,016		probably null	Het
Kifc5b	T	C	17: 26,932,117	V663A	probably damaging	Het
Lama1	T	G	17: 67,807,797	S2314A	probably benign	Het
Lrrc69	C	T	4: 14,703,984	V279I	probably benign	Het
Mast3	A	T	8: 70,782,139	L774Q	possibly damaging	Het
Med27	C	A	2: 29,413,482	P9Q	probably damaging	Het
Myo5a	C	A	9: 75,169,090		probably benign	Het
Myoz1	T	C	14: 20,655,309	K14E	probably damaging	Het
Neb	T	C	2: 52,183,845		probably benign	Het
Nlrp1a	T	C	11: 71,123,501	T308A	probably benign	Het
Olfr364-ps1	A	G	2: 37,146,509	Y99C	probably damaging	Het
Olfr926	G	T	9: 38,877,548	C124F	probably damaging	Het
Orc1	T	A	4: 108,603,957		probably null	Het
Pnkp	G	A	7: 44,862,207	A76T	probably damaging	Het
Polr3h	T	C	15: 81,917,390	E95G	probably damaging	Het
Prpf40b	T	A	15: 99,304,447	M62K	unknown	Het
Prpf8	C	A	11: 75,495,744	Q1075K	probably benign	Het
Ptprg	A	G	14: 12,179,280	K766E	probably benign	Het
Rabgap1l	A	T	1: 160,342,042	N778K	probably damaging	Het
Riok3	T	A	18: 12,139,385	N204K	probably damaging	Het
Shank3	A	G	15: 89,531,663	K650E	probably damaging	Het
Sim1	T	A	10: 50,984,315	S758T	probably damaging	Het
Slu7	T	G	11: 43,439,260	N171K	probably damaging	Het
Sult6b2	A	G	6: 142,790,126		probably null	Het
Taf6l	C	T	19: 8,778,086		probably null	Het
Ubtfl1	G	A	9: 18,409,721	V182M	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het

Other mutations in C130026I21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01866:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01876:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01880:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01883:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01888:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01893:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01898:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01906:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01908:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01909:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01916:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01918:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01920:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01923:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01928:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01933:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01945:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01949:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01951:C130026I21Rik	APN	1	85254186	intron	probably benign
IGL01952:C130026I21Rik	APN	1	85254186	intron	probably benign
PIT4131001:C130026I21Rik	UTSW	1	85245674	intron	probably benign
PIT4142001:C130026I21Rik	UTSW	1	85245674	intron	probably benign
R0067:C130026I21Rik	UTSW	1	85270052	missense	probably benign	0.00
R0367:C130026I21Rik	UTSW	1	85270103	start gained	probably benign
R0389:C130026I21Rik	UTSW	1	85270052	missense	probably benign	0.00
R1284:C130026I21Rik	UTSW	1	85270055	missense	probably damaging	0.98
R1620:C130026I21Rik	UTSW	1	85254186	intron	probably benign
R1622:C130026I21Rik	UTSW	1	85254186	intron	probably benign
R1671:C130026I21Rik	UTSW	1	85257385	critical splice donor site	probably null
R3115:C130026I21Rik	UTSW	1	85257385	intron	probably benign
R4120:C130026I21Rik	UTSW	1	85259821	missense	possibly damaging	0.82
R4223:C130026I21Rik	UTSW	1	85112557	missense	probably damaging	0.98
R4947:C130026I21Rik	UTSW	1	85112482	missense	probably damaging	1.00
R4996:C130026I21Rik	UTSW	1	85247094	missense	probably benign	0.12
R5152:C130026I21Rik	UTSW	1	85261860	missense	probably benign	0.04
R6614:C130026I21Rik	UTSW	1	85202060	splice site	probably null
R7675:C130026I21Rik	UTSW	1	85247015	missense	probably benign
R7784:C130026I21Rik	UTSW	1	85212474	splice site	probably null
R7839:C130026I21Rik	UTSW	1	85247015	missense	probably benign
R8010:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
R8034:C130026I21Rik	UTSW	1	85254160	missense	probably benign	0.35
R8382:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
R8431:C130026I21Rik	UTSW	1	85257449	missense	probably benign	0.00
R8690:C130026I21Rik	UTSW	1	85257449	missense	probably benign	0.00
R8951:C130026I21Rik	UTSW	1	85246950	missense	possibly damaging	0.53
R9150:C130026I21Rik	UTSW	1	85113638	missense	probably damaging	0.96
R9204:C130026I21Rik	UTSW	1	85257449	missense	probably benign	0.00
Z1176:C130026I21Rik	UTSW	1	85113523	missense	probably damaging	1.00

Posted On

2015-04-16