Mutagenetix > Incidental Mutations

Incidental Mutation 'R0866:5430401F13Rik'

82347

Institutional Source

Beutler Lab

Gene Symbol

5430401F13Rik

Ensembl Gene

ENSMUSG00000094113

Gene Name

RIKEN cDNA 5430401F13 gene

Synonyms

MMRRC Submission

039040-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R0866 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

131486400-131553763 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 131552779 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 112 (R112L)

Ref Sequence

ENSEMBL: ENSMUSP00000125129 (fasta)

Gene Model

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

AlphaFold

E9Q328

Predicted Effect

unknown
Transcript: ENSMUST00000075020
AA Change: R112L

SMART Domains

Protein: ENSMUSP00000074539
Gene: ENSMUSG00000094113
AA Change: R112L

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

unknown
Transcript: ENSMUST00000161385
AA Change: R112L

SMART Domains

Protein: ENSMUSP00000125129
Gene: ENSMUSG00000094113
AA Change: R112L

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

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.5%
20x: 91.7%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd4	G	T	12: 84,611,733	A232E	probably damaging	Het
Acsm5	T	A	7: 119,540,900	I508N	probably damaging	Het
Adam22	T	C	5: 8,082,156	Q263R	probably damaging	Het
Ccdc88c	A	G	12: 100,913,192	L1890P	probably benign	Het
Ckap4	C	T	10: 84,527,520	D560N	probably damaging	Het
Crb3	T	A	17: 57,062,743	L17Q	probably damaging	Het
Fbxo21	G	T	5: 117,977,033	R78L	probably benign	Het
Gapvd1	A	T	2: 34,709,217	C669S	probably damaging	Het
Gria2	A	T	3: 80,722,024		probably benign	Het
H2-M11	T	C	17: 36,548,937	L274P	probably benign	Het
Hmox1	A	G	8: 75,097,303	T200A	probably benign	Het
Hspa8	G	A	9: 40,802,624		probably null	Het
Isy1	C	A	6: 87,819,112	R281L	probably benign	Het
Kiz	C	A	2: 146,856,053		probably benign	Het
Lrig2	T	C	3: 104,464,275	K704R	probably benign	Het
Lrp1	A	T	10: 127,539,278	D4484E	probably damaging	Het
Lrrc7	C	A	3: 158,164,266		probably benign	Het
Mtmr14	T	C	6: 113,239,582		probably null	Het
Mtmr3	A	T	11: 4,488,474	V660E	probably benign	Het
Mtor	T	C	4: 148,486,056	I1190T	probably benign	Het
Mtrf1l	T	C	10: 5,813,376	R318G	probably damaging	Het
Myh7	T	C	14: 54,973,139	T1739A	probably benign	Het
Ofcc1	C	T	13: 40,208,829	G206R	probably benign	Het
Olfr186	C	T	16: 59,027,428	V160I	probably benign	Het
Pcca	A	G	14: 122,889,545	E722G	possibly damaging	Het
Pds5b	T	A	5: 150,739,191		probably benign	Het
Ralgapa2	A	T	2: 146,436,003	F413I	probably damaging	Het
Rbbp9	T	C	2: 144,550,708	Y24C	probably damaging	Het
Rgs2	A	G	1: 144,002,250	S103P	probably damaging	Het
Rtn1	G	T	12: 72,308,382	Y263*	probably null	Het
Slc22a1	T	C	17: 12,657,046	E427G	probably benign	Het
Speg	A	G	1: 75,417,083	T1695A	probably damaging	Het
Tlx3	C	A	11: 33,203,315	G49W	probably damaging	Het
Tor1b	A	G	2: 30,956,916	M292V	probably benign	Het
Tspyl3	A	T	2: 153,224,934	L128Q	probably damaging	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfc3h1	G	A	10: 115,427,716	V1821I	probably benign	Het
Zfhx4	A	T	3: 5,412,212	T3271S	possibly damaging	Het
Zfp386	G	T	12: 116,054,709		probably benign	Het
Zfp574	A	T	7: 25,079,898	K115M	probably damaging	Het

Other mutations in 5430401F13Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02737:5430401F13Rik	APN	6	131552592	missense	probably benign	0.14
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

Predicted Primers

PCR Primer
(F):5'- ACTCTCAAGCAAGATCCCTTTGTCAC -3'
(R):5'- AGGACTCCTGTTGTACTGACCCTG -3'

Sequencing Primer
(F):5'- CTTGCATATATTGGACCTAGTCAC -3'
(R):5'- GTACTGACCCTGCTGGCTTC -3'

Posted On

2013-11-08