Mutagenetix > Incidental Mutation

Incidental Mutation 'R6800:4930486L24Rik'

533296

Institutional Source

Beutler Lab

Gene Symbol

4930486L24Rik

Ensembl Gene

ENSMUSG00000050345

Gene Name

RIKEN cDNA 4930486L24 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R6800 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60842612-60864475 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 60845134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 244 (P244S)

Ref Sequence

ENSEMBL: ENSMUSP00000089157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091569] [ENSMUST00000225690]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000091569
AA Change: P244S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: P244S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Inhibitor_I29	29	88	1e-19	SMART
Pept_C1	114	332	7.93e-112	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000225690

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	C	11: 78,288,279	F2091S	probably benign	Het
9130023H24Rik	C	A	7: 128,237,570		probably benign	Het
Acoxl	A	T	2: 128,010,165	Q129L	probably damaging	Het
Akna	T	C	4: 63,398,031	T32A	probably benign	Het
Alox15	C	T	11: 70,344,819		probably null	Het
Antxrl	T	C	14: 34,065,907	S296P	probably damaging	Het
Arrb2	G	T	11: 70,437,316	G52*	probably null	Het
BC067074	T	A	13: 113,368,152	D396E	probably benign	Het
Capn2	A	T	1: 182,481,480	I499N	probably damaging	Het
Cubn	T	A	2: 13,321,255	I2700F	probably damaging	Het
Cypt4	A	T	9: 24,625,669	N152Y	probably benign	Het
Dmxl2	T	C	9: 54,409,183	N1640D	probably damaging	Het
Dnah7b	A	T	1: 46,340,217	N3704Y	possibly damaging	Het
Dnah9	A	G	11: 66,072,739		probably null	Het
Elac2	G	A	11: 64,999,439		probably null	Het
Erich3	A	T	3: 154,727,392		probably null	Het
Espnl	T	C	1: 91,342,629	V386A	probably damaging	Het
Fbxl6	T	A	15: 76,538,698		probably benign	Het
Fdps	A	C	3: 89,100,761	F17V	probably damaging	Het
Gigyf2	T	C	1: 87,419,176	I576T	possibly damaging	Het
Gm20939	A	G	17: 94,877,229	E435G	possibly damaging	Het
Gm4788	T	A	1: 139,701,981	D683V	possibly damaging	Het
Hivep1	G	A	13: 42,157,376	V1031I	probably damaging	Het
Hydin	T	G	8: 110,597,971	S4655A	probably benign	Het
Ifrd1	T	A	12: 40,223,158		probably benign	Het
Iqgap1	G	T	7: 80,728,981	T1219K	possibly damaging	Het
Lmtk3	G	A	7: 45,793,809	E639K	possibly damaging	Het
Map3k5	A	G	10: 20,141,580	*1373W	probably null	Het
Mia2	G	A	12: 59,188,546		probably null	Het
Micu2	T	C	14: 57,919,439	D313G	possibly damaging	Het
Mrgpra4	A	G	7: 47,981,623	S77P	probably damaging	Het
Mrpl51	T	C	6: 125,192,404	V17A	probably benign	Het
Neurod4	A	T	10: 130,270,792	Y204*	probably null	Het
Olfr134	A	G	17: 38,175,122	I13V	probably benign	Het
Olfr492	G	A	7: 108,323,253	T141I	probably benign	Het
Olfr682-ps1	A	T	7: 105,127,010	V97E	probably benign	Het
Olfr792	A	T	10: 129,541,263	H242L	probably damaging	Het
Pate2	T	C	9: 35,685,645		probably benign	Het
Pcdhgb8	G	A	18: 37,763,527	R550Q	probably benign	Het
Phldb3	T	C	7: 24,624,152	L437P	possibly damaging	Het
Pianp	C	A	6: 125,001,602	P257T	possibly damaging	Het
Rbbp6	T	A	7: 122,985,064	H140Q	possibly damaging	Het
Rfx2	A	G	17: 56,780,804	I529T	probably damaging	Het
Rnf113a1	A	C	X: 37,192,187	T266P	probably benign	Het
Rp1l1	T	C	14: 64,031,150	I1395T	possibly damaging	Het
Rps6ka2	A	C	17: 7,251,636	K186Q	probably damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932		probably benign	Het
Rtel1	C	A	2: 181,322,463	T85N	probably benign	Het
Rtn4rl2	T	C	2: 84,880,623	N99S	probably damaging	Het
Ryr1	C	T	7: 29,024,316	G4106D	possibly damaging	Het
Scgb2b24	A	G	7: 33,738,469	V71A	probably benign	Het
Sgip1	A	G	4: 102,921,028		probably benign	Het
Slc12a4	G	A	8: 105,949,739	T515I	probably damaging	Het
Spag1	C	T	15: 36,197,749	R286*	probably null	Het
Strbp	C	T	2: 37,625,216	R266Q	probably damaging	Het
Strn	G	T	17: 78,670,358		probably benign	Het
Thnsl2	C	A	6: 71,141,280	V55L	probably benign	Het
Tmem178b	A	T	6: 40,254,924	Q164L	unknown	Het
Tmprss6	C	T	15: 78,440,257	R786H	probably damaging	Het
Ttc21a	T	A	9: 119,941,202	L113Q	possibly damaging	Het
Ttc21b	T	C	2: 66,208,650		probably null	Het
Vmn2r51	T	C	7: 10,098,264	D465G	probably damaging	Het
Vmp1	A	C	11: 86,666,087		probably null	Het
Wdcp	T	C	12: 4,851,358	F405L	probably damaging	Het
Zfhx3	A	T	8: 108,949,517	T2400S	probably benign	Het
Zfp27	T	C	7: 29,894,435	T702A	probably benign	Het
Zfp72	T	C	13: 74,371,961	S333G	probably benign	Het

Other mutations in 4930486L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:4930486L24Rik	APN	13	60854859	missense	probably benign	0.00
IGL01325:4930486L24Rik	APN	13	60853533	missense	probably damaging	1.00
IGL02290:4930486L24Rik	APN	13	60853530	missense	probably damaging	1.00
IGL02861:4930486L24Rik	APN	13	60853332	splice site	probably benign
PIT4514001:4930486L24Rik	UTSW	13	60853514	critical splice donor site	probably null
R0110:4930486L24Rik	UTSW	13	60853506	splice site	probably benign
R1396:4930486L24Rik	UTSW	13	60853243	missense	probably benign	0.00
R1471:4930486L24Rik	UTSW	13	60853522	missense	probably damaging	1.00
R1688:4930486L24Rik	UTSW	13	60854881	missense	probably benign	0.00
R1697:4930486L24Rik	UTSW	13	60845114	missense	probably damaging	1.00
R3838:4930486L24Rik	UTSW	13	60845227	missense	probably damaging	1.00
R4714:4930486L24Rik	UTSW	13	60844318	missense	probably damaging	1.00
R4976:4930486L24Rik	UTSW	13	60853573	nonsense	probably null
R5072:4930486L24Rik	UTSW	13	60853600	missense	probably benign	0.00
R5107:4930486L24Rik	UTSW	13	60853658	missense	possibly damaging	0.62
R5699:4930486L24Rik	UTSW	13	60853596	missense	possibly damaging	0.92
R6092:4930486L24Rik	UTSW	13	60853647	missense	probably benign	0.01
R6787:4930486L24Rik	UTSW	13	60853108	missense	probably benign
R7349:4930486L24Rik	UTSW	13	60842903	missense	possibly damaging	0.52
R7390:4930486L24Rik	UTSW	13	60844338	missense	probably benign	0.00
R7580:4930486L24Rik	UTSW	13	60845226	missense	probably damaging	0.97
R7589:4930486L24Rik	UTSW	13	60842933	missense	probably damaging	1.00
R9304:4930486L24Rik	UTSW	13	60853538	missense	probably damaging	0.98
R9340:4930486L24Rik	UTSW	13	60853833	missense	probably benign	0.20
R9485:4930486L24Rik	UTSW	13	60853245	missense	possibly damaging	0.88
R9489:4930486L24Rik	UTSW	13	60854869	missense	probably damaging	1.00
R9798:4930486L24Rik	UTSW	13	60853120	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- TCCTAAAGATCAGACAACTGGAG -3'
(R):5'- GGTTCTAGCTCATGTTCTCCAG -3'

Sequencing Primer
(F):5'- AAAATATTAAGGATGTGGACTCATGG -3'
(R):5'- TTCTCCAGGAGGTAGATGGCAAC -3'

Posted On

2018-09-12