Mutagenetix > Incidental Mutations

Incidental Mutation 'R0468:5530400C23Rik'

41747

Institutional Source

Beutler Lab

Gene Symbol

5530400C23Rik

Ensembl Gene

ENSMUSG00000055594

Gene Name

RIKEN cDNA 5530400C23 gene

Synonyms

MMRRC Submission

038668-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R0468 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133292216-133295792 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 133294458 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 155 (L155P)

Ref Sequence

ENSEMBL: ENSMUSP00000035635 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048459]

Predicted Effect

probably benign
Transcript: ENSMUST00000048459
AA Change: L155P

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000035635
Gene: ENSMUSG00000055594
AA Change: L155P

Domain	Start	End	E-Value	Type
Pfam:Pro-rich	1	163	5.2e-13	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	G	12: 71,193,310	H1298R	possibly damaging	Het
6820408C15Rik	A	T	2: 152,441,266	R283S	probably benign	Het
Aldh1l2	T	A	10: 83,518,678	E104D	probably benign	Het
Anxa3	T	C	5: 96,811,099	V22A	probably benign	Het
Bcl7b	T	C	5: 135,180,883	F188L	probably benign	Het
Brinp1	T	A	4: 68,762,776	I506F	probably damaging	Het
Bsdc1	T	C	4: 129,461,718		probably benign	Het
Ccdc180	T	C	4: 45,923,271	I1075T	possibly damaging	Het
Cep162	A	G	9: 87,193,697	L1294P	probably damaging	Het
Cltc	G	A	11: 86,704,626		probably benign	Het
Col11a1	T	C	3: 114,217,058		probably benign	Het
Col14a1	A	T	15: 55,388,646	Y566F	unknown	Het
Dhx29	A	G	13: 112,963,277	Q1148R	probably benign	Het
Ehbp1	A	G	11: 22,169,184		probably benign	Het
Ehd3	A	G	17: 73,805,379	H46R	probably damaging	Het
Fam171a1	T	C	2: 3,225,396	V522A	probably benign	Het
Gm4553	C	A	7: 142,165,625	C22F	unknown	Het
Hibadh	C	T	6: 52,557,770		probably benign	Het
Hspg2	G	A	4: 137,533,529	C1613Y	probably damaging	Het
Hydin	G	T	8: 110,413,223	C708F	possibly damaging	Het
Ifi208	A	T	1: 173,683,481	M401L	probably benign	Het
Igsf8	G	A	1: 172,318,796	V454M	probably damaging	Het
Irx4	G	T	13: 73,266,720		probably benign	Het
Kcnh4	C	T	11: 100,746,932	G633E	probably benign	Het
Kcnn2	C	T	18: 45,559,471	T38M	possibly damaging	Het
L3mbtl3	C	T	10: 26,327,732	R400H	unknown	Het
Lrp6	T	C	6: 134,485,661	T679A	possibly damaging	Het
Map9	T	C	3: 82,374,203		probably null	Het
Men1	T	A	19: 6,336,923	V5E	probably null	Het
Mettl14	T	C	3: 123,371,412	D93G	probably damaging	Het
Neb	G	T	2: 52,211,556	R4601S	probably damaging	Het
Nell1	A	G	7: 50,228,846	T272A	probably damaging	Het
Olfr1115	A	T	2: 87,252,255	N106I	probably benign	Het
Olfr319	A	T	11: 58,701,793	I31F	probably damaging	Het
Pclo	C	A	5: 14,677,288		probably benign	Het
Pdia5	A	G	16: 35,397,507	L502P	probably damaging	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plxna4	C	A	6: 32,215,246	C803F	probably damaging	Het
Pmfbp1	A	G	8: 109,513,968		probably null	Het
Ptgs1	A	G	2: 36,249,193	Y468C	probably damaging	Het
Pxdn	G	T	12: 29,994,486	G488W	probably damaging	Het
Safb	C	T	17: 56,606,025	R914C	probably damaging	Het
Sec31b	T	A	19: 44,518,508		probably benign	Het
Shank3	G	A	15: 89,549,275	V1333I	probably benign	Het
Slamf1	A	G	1: 171,792,371		probably benign	Het
Slc23a3	T	A	1: 75,133,230	Q131L	possibly damaging	Het
Slc7a11	A	G	3: 50,384,051	V303A	probably damaging	Het
Slc7a13	T	A	4: 19,841,500	V449D	probably benign	Het
Srp68	A	T	11: 116,248,764	I453K	probably damaging	Het
Steap3	A	T	1: 120,234,300	V414D	probably damaging	Het
Tagln2	A	G	1: 172,506,221	N131D	probably benign	Het
Tmem132d	T	C	5: 128,269,203	Y85C	probably damaging	Het
Vcam1	A	T	3: 116,115,946	Y577*	probably null	Het
Vmn1r214	A	G	13: 23,035,253	T306A	probably benign	Het
Zfyve1	A	T	12: 83,555,274		probably benign	Het
Zgrf1	T	A	3: 127,562,041	N305K	possibly damaging	Het

Other mutations in 5530400C23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01018:5530400C23Rik	APN	6	133294497	missense	probably benign
IGL01018:5530400C23Rik	APN	6	133294498	missense	probably benign
IGL02383:5530400C23Rik	APN	6	133292242	utr 5 prime	probably benign
R0066:5530400C23Rik	UTSW	6	133292324	splice site	probably benign
R0105:5530400C23Rik	UTSW	6	133294314	missense	probably benign	0.32
R0600:5530400C23Rik	UTSW	6	133293211	splice site	probably benign
R1523:5530400C23Rik	UTSW	6	133294293	missense	possibly damaging	0.85
R3418:5530400C23Rik	UTSW	6	133294119	missense	probably benign	0.32
R3419:5530400C23Rik	UTSW	6	133294119	missense	probably benign	0.32
R5362:5530400C23Rik	UTSW	6	133294482	missense	probably benign
R6160:5530400C23Rik	UTSW	6	133294326	missense	possibly damaging	0.85
R7733:5530400C23Rik	UTSW	6	133294277	missense	probably benign	0.32

Predicted Primers

PCR Primer
(F):5'- CGTCCAACTCTGGGAATGAACAGC -3'
(R):5'- GCAGATGCCATGCACATATTTTGCC -3'

Sequencing Primer
(F):5'- AGAGCATTGTGACTCCACTG -3'
(R):5'- CCATGCACATATTTTGCCAGTTAG -3'

Posted On

2013-05-23