Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:4921509C19Rik'

318901

Institutional Source

Beutler Lab

Gene Symbol

4921509C19Rik

Ensembl Gene

ENSMUSG00000061525

Gene Name

RIKEN cDNA 4921509C19 gene

Synonyms

LOC381389

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4206 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

151470542-151476153 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 151473515 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 81 (K81R)

Ref Sequence

ENSEMBL: ENSMUSP00000079030 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080132]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000080132
AA Change: K81R

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: K81R

Domain	Start	End	E-Value	Type
S_TKc	24	271	2.18e-97	SMART
low complexity region	430	447	N/A	INTRINSIC
low complexity region	470	481	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155885

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,213,651	F1150L	probably benign	Het
Acat3	A	G	17: 12,927,386	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,322,668	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 118,121,899		probably benign	Het
Cabin1	T	C	10: 75,754,841	S23G	possibly damaging	Het
Clasp1	A	G	1: 118,578,906	N949S	probably damaging	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dgka	A	T	10: 128,721,195	L637Q	probably damaging	Het
Dst	G	A	1: 34,212,247	R1801H	probably damaging	Het
Edil3	T	C	13: 89,180,278	S284P	probably damaging	Het
Eif2d	A	G	1: 131,154,363	Y64C	probably damaging	Het
Ell2	A	G	13: 75,761,948	D139G	probably damaging	Het
Fam187a	A	G	11: 102,886,212	R281G	probably damaging	Het
Gin1	A	G	1: 97,792,420	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,604,503	D25A	possibly damaging	Het
Gyg	A	G	3: 20,152,737	S90P	probably benign	Het
Hpx	C	T	7: 105,595,147	M190I	probably null	Het
Irf2bpl	C	T	12: 86,883,036	V288I	probably benign	Het
Lyst	A	G	13: 13,635,989	H748R	probably benign	Het
Mmrn1	G	A	6: 60,958,180	G220D	probably damaging	Het
Mpdz	A	T	4: 81,381,762	M333K	probably benign	Het
Muc5ac	C	T	7: 141,817,110	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 84,716,247		probably null	Het
Ntsr1	A	G	2: 180,500,752	D112G	probably damaging	Het
Olfr1410	A	C	1: 92,608,595	T253P	possibly damaging	Het
Olfr657	T	A	7: 104,636,149	N158K	possibly damaging	Het
Olfr8	T	C	10: 78,955,283	F26S	probably benign	Het
Parg	A	G	14: 32,254,536	K178R	probably benign	Het
Pde8b	C	A	13: 95,222,545	C90F	probably benign	Het
Pld1	G	A	3: 28,120,783	V857I	probably benign	Het
Rad54l2	A	C	9: 106,717,795	V321G	probably damaging	Het
Rcn2	A	G	9: 56,045,207	Y112C	possibly damaging	Het
Rnf123	A	T	9: 108,063,963	D639E	probably benign	Het
Rufy2	C	T	10: 63,004,772	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,326,638	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,319,501		probably null	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,608,233	S321P	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Tex2	A	G	11: 106,567,572		probably benign	Het
Tmem2	G	T	19: 21,842,115	R1090L	probably damaging	Het
Trip13	A	G	13: 73,932,890	I119T	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Ttn	A	G	2: 76,772,567	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565	V142A	probably damaging	Het
Uggt2	C	T	14: 119,049,262	D221N	probably damaging	Het
Wnt4	A	G	4: 137,296,343	K207R	possibly damaging	Het
Zfp608	T	C	18: 54,988,195	R107G	probably damaging	Het

Other mutations in 4921509C19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:4921509C19Rik	APN	2	151473533	missense	possibly damaging	0.46
IGL02117:4921509C19Rik	APN	2	151473546	missense	probably benign	0.10
IGL02432:4921509C19Rik	APN	2	151472561	missense	probably benign	0.18
IGL03025:4921509C19Rik	APN	2	151473485	missense	possibly damaging	0.82
R0321:4921509C19Rik	UTSW	2	151472700	missense	probably benign	0.01
R0961:4921509C19Rik	UTSW	2	151472766	missense	probably benign	0.01
R1272:4921509C19Rik	UTSW	2	151472057	missense	probably damaging	0.98
R1455:4921509C19Rik	UTSW	2	151472904	missense	possibly damaging	0.46
R3177:4921509C19Rik	UTSW	2	151472100	missense	possibly damaging	0.65
R3277:4921509C19Rik	UTSW	2	151472100	missense	possibly damaging	0.65
R4655:4921509C19Rik	UTSW	2	151472858	missense	probably benign	0.03
R4680:4921509C19Rik	UTSW	2	151473470	missense	probably damaging	1.00
R4684:4921509C19Rik	UTSW	2	151471871	missense	unknown
R4702:4921509C19Rik	UTSW	2	151472589	missense	probably benign	0.00
R4867:4921509C19Rik	UTSW	2	151472822	nonsense	probably null
R4962:4921509C19Rik	UTSW	2	151472808	missense	possibly damaging	0.78
R5117:4921509C19Rik	UTSW	2	151472540	missense	probably benign	0.00
R5484:4921509C19Rik	UTSW	2	151471931	missense	probably benign
R5602:4921509C19Rik	UTSW	2	151473539	missense	possibly damaging	0.83
R6374:4921509C19Rik	UTSW	2	151472880	missense	possibly damaging	0.47
R6894:4921509C19Rik	UTSW	2	151473307	missense	probably damaging	1.00
R7079:4921509C19Rik	UTSW	2	151473278	missense	probably damaging	1.00
R7109:4921509C19Rik	UTSW	2	151473753	missense	probably damaging	1.00
R7155:4921509C19Rik	UTSW	2	151473569	missense	possibly damaging	0.69
R7441:4921509C19Rik	UTSW	2	151472925	missense	possibly damaging	0.51
R7845:4921509C19Rik	UTSW	2	151472309	missense	probably damaging	0.96
R7853:4921509C19Rik	UTSW	2	151473680	missense	probably damaging	1.00
R8773:4921509C19Rik	UTSW	2	151472142	missense	possibly damaging	0.91
R8805:4921509C19Rik	UTSW	2	151471365	splice site	probably benign
R8983:4921509C19Rik	UTSW	2	151471352	missense	unknown
R9257:4921509C19Rik	UTSW	2	151473707	missense	probably benign	0.05
R9566:4921509C19Rik	UTSW	2	151472306	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- TGGCTTTAAATCCCTGTGGAC -3'
(R):5'- TAACACCTTTGAAGACGCTGCC -3'

Sequencing Primer
(F):5'- GGCTTTAAATCCCTGTGGACAATCC -3'
(R):5'- CTTTGAAGACGCTGCCTTAACAG -3'

Posted On

2015-06-10