Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02737:5430401F13Rik'

305710

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

IGL02737

Quality Score

Status

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 131552592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 50 (I50L)

Ref Sequence

ENSEMBL: ENSMUSP00000125129 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075020] [ENSMUST00000161385]

AlphaFold

E9Q328

Predicted Effect

probably benign
Transcript: ENSMUST00000075020
AA Change: I50L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113
AA Change: I50L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161385
AA Change: I50L

PolyPhen 2 Score 0.135 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113
AA Change: I50L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	100	116	N/A	INTRINSIC
low complexity region	118	166	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110051M20Rik	T	A	2: 91,304,797	Q9L	probably damaging	Het
4932414N04Rik	T	A	2: 68,736,560	H434Q	possibly damaging	Het
Ahnak	G	A	19: 9,004,593	M1080I	probably benign	Het
Aoc1	A	G	6: 48,907,643	K540R	probably benign	Het
Aplp2	T	C	9: 31,153,416	M585V	probably benign	Het
C3	A	G	17: 57,204,281	L1607P	probably benign	Het
C6	A	G	15: 4,796,914	K660E	probably benign	Het
Cabin1	T	C	10: 75,713,585	T1329A	probably benign	Het
Ccdc141	T	A	2: 77,057,924	N499I	probably damaging	Het
Cdh5	A	G	8: 104,142,928	D762G	probably damaging	Het
Cep152	T	C	2: 125,586,474	R746G	possibly damaging	Het
Cps1	A	T	1: 67,148,774	Q198L	probably benign	Het
D10Wsu102e	T	A	10: 83,364,445	M90K	probably damaging	Het
Eri3	T	C	4: 117,564,860	F112L	probably damaging	Het
Fam180a	C	A	6: 35,313,553	R165L	probably benign	Het
Fam205a1	C	A	4: 42,849,431	L908F	possibly damaging	Het
Fkbp10	A	C	11: 100,422,655	I252L	probably benign	Het
Gtf2f1	G	T	17: 57,003,918	Q410K	possibly damaging	Het
Hmcn1	T	C	1: 150,563,828	Y5535C	probably damaging	Het
Ifrd2	T	A	9: 107,592,170	D372E	probably benign	Het
Il3ra	A	G	14: 14,350,760	N165S	probably benign	Het
Kntc1	A	G	5: 123,819,120	N2164S	probably benign	Het
Krtap19-9a	A	G	16: 88,924,211		noncoding transcript	Het
Olfr103	T	A	17: 37,336,773	H153L	possibly damaging	Het
Pclo	T	C	5: 14,714,163	S4217P	unknown	Het
Ppfibp1	G	A	6: 147,027,308	V798I	probably damaging	Het
Prune2	A	T	19: 17,193,411	R165*	probably null	Het
Ptges	T	C	2: 30,892,686	Y118C	probably damaging	Het
Rab11fip5	C	A	6: 85,348,558	G289W	probably damaging	Het
Rfc1	T	C	5: 65,311,163	D69G	possibly damaging	Het
Scube1	A	G	15: 83,721,843		probably benign	Het
Slc5a6	G	A	5: 31,037,167	P565L	probably benign	Het
Sncaip	C	A	18: 52,907,056	T774K	probably benign	Het
Specc1l	G	A	10: 75,246,324	S535N	probably damaging	Het
Tbk1	C	T	10: 121,559,862	G442E	probably null	Het
Thoc7	A	T	14: 13,953,443	M78K	possibly damaging	Het
Usp15	A	G	10: 123,131,032	F461S	probably damaging	Het
Vmn2r6	T	A	3: 64,556,490	I308L	possibly damaging	Het
Zhx2	C	A	15: 57,822,267	T344N	probably damaging	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0866:5430401F13Rik	UTSW	6	131552779	missense	unknown
R1674:5430401F13Rik	UTSW	6	131552803	missense	unknown
R6374:5430401F13Rik	UTSW	6	131552929	missense	unknown
R6671:5430401F13Rik	UTSW	6	131551350	critical splice donor site	probably null
R7150:5430401F13Rik	UTSW	6	131552667	missense	probably benign	0.16
RF005:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
RF014:5430401F13Rik	UTSW	6	131552857	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552856	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552859	small insertion	probably benign
RF015:5430401F13Rik	UTSW	6	131552861	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552855	small insertion	probably benign
RF023:5430401F13Rik	UTSW	6	131552878	small insertion	probably benign
RF029:5430401F13Rik	UTSW	6	131552895	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF037:5430401F13Rik	UTSW	6	131552888	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552873	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552892	small insertion	probably benign
RF041:5430401F13Rik	UTSW	6	131552894	small insertion	probably benign
RF042:5430401F13Rik	UTSW	6	131552886	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552887	small insertion	probably benign
RF058:5430401F13Rik	UTSW	6	131552901	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552883	small insertion	probably benign
RF063:5430401F13Rik	UTSW	6	131552884	small insertion	probably benign
X0062:5430401F13Rik	UTSW	6	131552638	missense	probably benign	0.29
Z1177:5430401F13Rik	UTSW	6	131552721	missense	possibly damaging	0.66

Posted On

2015-04-16