Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:4930486L24Rik'

192353

Institutional Source

Beutler Lab

Gene Symbol

4930486L24Rik

Ensembl Gene

ENSMUSG00000050345

Gene Name

RIKEN cDNA 4930486L24 gene

Synonyms

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

60990426-61012230 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 60992928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 250 (D250E)

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: D250E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000089157
Gene: ENSMUSG00000050345
AA Change: D250E

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

Meta Mutation Damage Score

0.3890

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930571K23Rik	A	G	7: 124,968,201 (GRCm39)		noncoding transcript	Het
Acsl3	T	C	1: 78,683,114 (GRCm39)		probably benign	Het
Acsl6	C	A	11: 54,220,792 (GRCm39)	T244K	probably damaging	Het
Adam26b	T	A	8: 43,974,000 (GRCm39)	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,223,248 (GRCm39)	T608M	probably damaging	Het
Aldh2	A	G	5: 121,716,404 (GRCm39)		probably null	Het
Alms1	A	G	6: 85,599,436 (GRCm39)	T1890A	possibly damaging	Het
Capn7	C	T	14: 31,082,117 (GRCm39)	T441M	probably damaging	Het
Cd9	A	T	6: 125,441,367 (GRCm39)	C85S	probably damaging	Het
Chrm3	T	C	13: 9,928,794 (GRCm39)	T81A	probably damaging	Het
Ctif	A	G	18: 75,757,376 (GRCm39)		probably benign	Het
Dcc	T	A	18: 71,503,808 (GRCm39)	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,498,530 (GRCm39)	V422A	probably damaging	Het
Enthd1	A	G	15: 80,337,124 (GRCm39)	S437P	probably damaging	Het
Fads1	A	G	19: 10,171,464 (GRCm39)		probably benign	Het
Fat3	T	A	9: 15,856,176 (GRCm39)	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,392,473 (GRCm39)	V85E	possibly damaging	Het
Fcgbpl1	T	A	7: 27,853,772 (GRCm39)	C1579S	probably damaging	Het
Fem1b	T	C	9: 62,704,456 (GRCm39)	D268G	possibly damaging	Het
Focad	T	C	4: 88,327,225 (GRCm39)	L1772P	probably damaging	Het
Gtf3a	C	A	5: 146,888,723 (GRCm39)	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,342,957 (GRCm39)		probably null	Het
Herc2	T	A	7: 55,803,653 (GRCm39)	F2229L	probably benign	Het
Hs3st4	A	T	7: 123,996,080 (GRCm39)	I249L	probably benign	Het
Iqsec1	A	T	6: 90,786,752 (GRCm39)	Y7*	probably null	Het
Irag2	A	G	6: 145,083,341 (GRCm39)		probably benign	Het
Klk1b1	T	A	7: 43,619,750 (GRCm39)	M103K	probably benign	Het
Krt5	A	G	15: 101,619,020 (GRCm39)	V287A	probably benign	Het
Lgals12	T	A	19: 7,581,530 (GRCm39)	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,593,379 (GRCm39)	V264A	possibly damaging	Het
Lrp1b	T	C	2: 40,712,695 (GRCm39)	D3099G	probably damaging	Het
Mical3	G	A	6: 120,984,369 (GRCm39)	T169I	possibly damaging	Het
Muc21	A	C	17: 35,931,540 (GRCm39)		probably benign	Het
Myef2l	G	A	3: 10,154,613 (GRCm39)	V461I	possibly damaging	Het
Myh7b	A	C	2: 155,462,054 (GRCm39)	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Nsd1	A	T	13: 55,361,872 (GRCm39)		probably null	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or1j17	C	T	2: 36,578,259 (GRCm39)	L82F	probably damaging	Het
Or2t49	A	T	11: 58,392,502 (GRCm39)	S293R	probably damaging	Het
Or5h22	A	G	16: 58,895,270 (GRCm39)	Y58H	probably damaging	Het
Or5i1	T	A	2: 87,612,929 (GRCm39)	I15N	possibly damaging	Het
Or6c2b	T	C	10: 128,947,737 (GRCm39)	T186A	probably benign	Het
Pcnx2	A	G	8: 126,577,087 (GRCm39)	Y982H	probably damaging	Het
Pias3	T	C	3: 96,609,541 (GRCm39)	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,267,710 (GRCm39)	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,512,057 (GRCm39)	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,527,906 (GRCm39)		probably benign	Het
Pramel29	A	C	4: 143,935,162 (GRCm39)	I193S	probably damaging	Het
Proser3	T	C	7: 30,239,446 (GRCm39)	M553V	probably benign	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Smurf2	A	T	11: 106,715,514 (GRCm39)	D664E	possibly damaging	Het
Spag9	G	A	11: 93,887,391 (GRCm39)	A99T	probably benign	Het
Stim1	T	G	7: 102,003,713 (GRCm39)	C49G	probably damaging	Het
Stk32c	T	C	7: 138,701,740 (GRCm39)	I238V	probably benign	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,372,464 (GRCm39)	E133V	probably null	Het
Tmem209	A	T	6: 30,497,867 (GRCm39)	C143S	probably benign	Het
Tnr	T	G	1: 159,679,600 (GRCm39)	N191K	probably benign	Het
Vars1	C	T	17: 35,217,198 (GRCm39)	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,767,041 (GRCm39)	S819G	probably benign	Het
Wls	T	C	3: 159,602,995 (GRCm39)	V136A	probably benign	Het
Ybx2	C	T	11: 69,830,887 (GRCm39)	S217L	probably benign	Het
Zfp82	T	C	7: 29,756,779 (GRCm39)	D37G	probably benign	Het

Other mutations in 4930486L24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:4930486L24Rik	APN	13	61,002,673 (GRCm39)	missense	probably benign	0.00
IGL01325:4930486L24Rik	APN	13	61,001,347 (GRCm39)	missense	probably damaging	1.00
IGL02290:4930486L24Rik	APN	13	61,001,344 (GRCm39)	missense	probably damaging	1.00
IGL02861:4930486L24Rik	APN	13	61,001,146 (GRCm39)	splice site	probably benign
PIT4514001:4930486L24Rik	UTSW	13	61,001,328 (GRCm39)	critical splice donor site	probably null
R0110:4930486L24Rik	UTSW	13	61,001,320 (GRCm39)	splice site	probably benign
R1396:4930486L24Rik	UTSW	13	61,001,057 (GRCm39)	missense	probably benign	0.00
R1471:4930486L24Rik	UTSW	13	61,001,336 (GRCm39)	missense	probably damaging	1.00
R1688:4930486L24Rik	UTSW	13	61,002,695 (GRCm39)	missense	probably benign	0.00
R3838:4930486L24Rik	UTSW	13	60,993,041 (GRCm39)	missense	probably damaging	1.00
R4714:4930486L24Rik	UTSW	13	60,992,132 (GRCm39)	missense	probably damaging	1.00
R4976:4930486L24Rik	UTSW	13	61,001,387 (GRCm39)	nonsense	probably null
R5072:4930486L24Rik	UTSW	13	61,001,414 (GRCm39)	missense	probably benign	0.00
R5107:4930486L24Rik	UTSW	13	61,001,472 (GRCm39)	missense	possibly damaging	0.62
R5699:4930486L24Rik	UTSW	13	61,001,410 (GRCm39)	missense	possibly damaging	0.92
R6092:4930486L24Rik	UTSW	13	61,001,461 (GRCm39)	missense	probably benign	0.01
R6787:4930486L24Rik	UTSW	13	61,000,922 (GRCm39)	missense	probably benign
R6800:4930486L24Rik	UTSW	13	60,992,948 (GRCm39)	missense	probably damaging	1.00
R7349:4930486L24Rik	UTSW	13	60,990,717 (GRCm39)	missense	possibly damaging	0.52
R7390:4930486L24Rik	UTSW	13	60,992,152 (GRCm39)	missense	probably benign	0.00
R7580:4930486L24Rik	UTSW	13	60,993,040 (GRCm39)	missense	probably damaging	0.97
R7589:4930486L24Rik	UTSW	13	60,990,747 (GRCm39)	missense	probably damaging	1.00
R9304:4930486L24Rik	UTSW	13	61,001,352 (GRCm39)	missense	probably damaging	0.98
R9340:4930486L24Rik	UTSW	13	61,001,647 (GRCm39)	missense	probably benign	0.20
R9485:4930486L24Rik	UTSW	13	61,001,059 (GRCm39)	missense	possibly damaging	0.88
R9489:4930486L24Rik	UTSW	13	61,002,683 (GRCm39)	missense	probably damaging	1.00
R9798:4930486L24Rik	UTSW	13	61,000,934 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- GGTAAAGACAGTTGCTTGGTTGCAC -3'
(R):5'- TGGCAACGAATGAATCTCTTTCCCC -3'

Sequencing Primer
(F):5'- GCTTGGTTGCACACAAAAAATC -3'
(R):5'- AACGAATGAATCTCTTTCCCCTTAAC -3'

Posted On

2014-05-14