Mutagenetix > Incidental Mutation

Incidental Mutation 'R3177:4921509C19Rik'

476029

Institutional Source

Beutler Lab

Gene Symbol

4921509C19Rik

Ensembl Gene

ENSMUSG00000061525

Gene Name

RIKEN cDNA 4921509C19 gene

Synonyms

LOC381389

MMRRC Submission

040615-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3177 (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 151472100 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 553 (R553G)

Ref Sequence

ENSEMBL: ENSMUSP00000079030 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000080132
AA Change: R553G

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000079030
Gene: ENSMUSG00000061525
AA Change: R553G

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

100% (21/21)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,752,627 (GRCm38)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,699,159 (GRCm38)	G1242S	probably benign	Het
Ano9	T	A	7: 141,104,124 (GRCm38)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,922,390 (GRCm38)	K282E	probably benign	Het
Btnl9	T	C	11: 49,169,676 (GRCm38)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,067,652 (GRCm38)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,303,192 (GRCm38)	S225T	probably benign	Het
Clca4b	T	C	3: 144,911,359 (GRCm38)	I843M	probably benign	Het
Cntn4	G	A	6: 106,437,964 (GRCm38)		probably null	Het
Cyb561	T	C	11: 105,935,787 (GRCm38)		probably benign	Het
Cyp4f18	T	C	8: 71,993,200 (GRCm38)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,888,993 (GRCm38)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,084,217 (GRCm38)	V41M	probably damaging	Het
Duox1	T	C	2: 122,340,116 (GRCm38)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm38)		probably null	Het
Fbxw2	T	C	2: 34,822,750 (GRCm38)	T100A	probably benign	Het
Fcgbp	C	A	7: 28,091,661 (GRCm38)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,214,888 (GRCm38)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,899,224 (GRCm38)	F49S	probably damaging	Het
Gli3	A	T	13: 15,725,982 (GRCm38)	Q1318L	probably benign	Het
Gm5581	C	G	6: 131,166,965 (GRCm38)		noncoding transcript	Het
Gm5592	A	G	7: 41,288,380 (GRCm38)	E362G	probably benign	Het
Gm7104	A	T	12: 88,285,728 (GRCm38)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,244,315 (GRCm38)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,437,510 (GRCm38)	H46R	probably damaging	Het
Hao2	T	C	3: 98,880,328 (GRCm38)		probably benign	Het
Herc2	T	C	7: 56,153,428 (GRCm38)	V2175A	probably benign	Het
Hey1	T	C	3: 8,664,891 (GRCm38)	S169G	probably benign	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Hlf	T	C	11: 90,345,835 (GRCm38)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,298,413 (GRCm38)	A92E	probably damaging	Het
Hsp90aa1	C	A	12: 110,695,681 (GRCm38)		probably null	Het
Hsp90aa1	T	A	12: 110,695,680 (GRCm38)	M1L	possibly damaging	Het
Itgad	C	A	7: 128,190,981 (GRCm38)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,776,542 (GRCm38)	D409G	probably damaging	Het
Kif2a	A	G	13: 106,976,756 (GRCm38)	I455T	probably damaging	Het
Klk14	G	A	7: 43,692,077 (GRCm38)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,908,625 (GRCm38)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,276,480 (GRCm38)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,359,278 (GRCm38)		probably null	Het
Mag	C	T	7: 30,901,648 (GRCm38)		probably null	Het
Mdh1b	G	A	1: 63,711,531 (GRCm38)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,478,788 (GRCm38)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,930,752 (GRCm38)	E26K	possibly damaging	Het
Olfr1231	C	T	2: 89,303,218 (GRCm38)	V125M	possibly damaging	Het
Olfr1412	A	G	1: 92,588,813 (GRCm38)	N161S	probably benign	Het
Olfr552	T	C	7: 102,604,576 (GRCm38)	V74A	possibly damaging	Het
Padi6	A	G	4: 140,735,389 (GRCm38)	L307P	probably damaging	Het
Parp9	T	C	16: 35,948,208 (GRCm38)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,113,264 (GRCm38)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,882,079 (GRCm38)	L294F	probably benign	Het
Radil	A	G	5: 142,506,856 (GRCm38)	L339P	probably damaging	Het
Raver1	G	A	9: 21,079,277 (GRCm38)	P316S	possibly damaging	Het
Rell1	A	G	5: 63,926,987 (GRCm38)		probably null	Het
Rxrg	A	G	1: 167,635,700 (GRCm38)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,549,879 (GRCm38)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,996,601 (GRCm38)	R171W	probably damaging	Het
Spata7	A	G	12: 98,637,598 (GRCm38)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,232 (GRCm38)	F99L	possibly damaging	Het
Unc13a	A	C	8: 71,629,695 (GRCm38)	C1642G	probably benign	Het
Usp36	C	T	11: 118,276,759 (GRCm38)		probably null	Het
Wrn	A	G	8: 33,317,554 (GRCm38)	M292T	probably damaging	Het
Zfp423	A	G	8: 87,782,331 (GRCm38)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,231,346 (GRCm38)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,277,270 (GRCm38)	T51A	possibly damaging	Het

Other mutations in 4921509C19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01098:4921509C19Rik	APN	2	151,473,533 (GRCm38)	missense	possibly damaging	0.46
IGL02117:4921509C19Rik	APN	2	151,473,546 (GRCm38)	missense	probably benign	0.10
IGL02432:4921509C19Rik	APN	2	151,472,561 (GRCm38)	missense	probably benign	0.18
IGL03025:4921509C19Rik	APN	2	151,473,485 (GRCm38)	missense	possibly damaging	0.82
R0321:4921509C19Rik	UTSW	2	151,472,700 (GRCm38)	missense	probably benign	0.01
R0961:4921509C19Rik	UTSW	2	151,472,766 (GRCm38)	missense	probably benign	0.01
R1272:4921509C19Rik	UTSW	2	151,472,057 (GRCm38)	missense	probably damaging	0.98
R1455:4921509C19Rik	UTSW	2	151,472,904 (GRCm38)	missense	possibly damaging	0.46
R3277:4921509C19Rik	UTSW	2	151,472,100 (GRCm38)	missense	possibly damaging	0.65
R4206:4921509C19Rik	UTSW	2	151,473,515 (GRCm38)	missense	probably benign	0.44
R4655:4921509C19Rik	UTSW	2	151,472,858 (GRCm38)	missense	probably benign	0.03
R4680:4921509C19Rik	UTSW	2	151,473,470 (GRCm38)	missense	probably damaging	1.00
R4684:4921509C19Rik	UTSW	2	151,471,871 (GRCm38)	missense	unknown
R4702:4921509C19Rik	UTSW	2	151,472,589 (GRCm38)	missense	probably benign	0.00
R4867:4921509C19Rik	UTSW	2	151,472,822 (GRCm38)	nonsense	probably null
R4962:4921509C19Rik	UTSW	2	151,472,808 (GRCm38)	missense	possibly damaging	0.78
R5117:4921509C19Rik	UTSW	2	151,472,540 (GRCm38)	missense	probably benign	0.00
R5484:4921509C19Rik	UTSW	2	151,471,931 (GRCm38)	missense	probably benign
R5602:4921509C19Rik	UTSW	2	151,473,539 (GRCm38)	missense	possibly damaging	0.83
R6374:4921509C19Rik	UTSW	2	151,472,880 (GRCm38)	missense	possibly damaging	0.47
R6894:4921509C19Rik	UTSW	2	151,473,307 (GRCm38)	missense	probably damaging	1.00
R7079:4921509C19Rik	UTSW	2	151,473,278 (GRCm38)	missense	probably damaging	1.00
R7109:4921509C19Rik	UTSW	2	151,473,753 (GRCm38)	missense	probably damaging	1.00
R7155:4921509C19Rik	UTSW	2	151,473,569 (GRCm38)	missense	possibly damaging	0.69
R7441:4921509C19Rik	UTSW	2	151,472,925 (GRCm38)	missense	possibly damaging	0.51
R7845:4921509C19Rik	UTSW	2	151,472,309 (GRCm38)	missense	probably damaging	0.96
R7853:4921509C19Rik	UTSW	2	151,473,680 (GRCm38)	missense	probably damaging	1.00
R8773:4921509C19Rik	UTSW	2	151,472,142 (GRCm38)	missense	possibly damaging	0.91
R8805:4921509C19Rik	UTSW	2	151,471,365 (GRCm38)	splice site	probably benign
R8983:4921509C19Rik	UTSW	2	151,471,352 (GRCm38)	missense	unknown
R9257:4921509C19Rik	UTSW	2	151,473,707 (GRCm38)	missense	probably benign	0.05
R9566:4921509C19Rik	UTSW	2	151,472,306 (GRCm38)	missense	probably benign	0.13

Predicted Primers

Posted On

2017-05-11