Mutagenetix > Incidental Mutation

Incidental Mutation 'R0206:4930430F08Rik'

35474

Institutional Source

Beutler Lab

Gene Symbol

4930430F08Rik

Ensembl Gene

ENSMUSG00000046567

Gene Name

RIKEN cDNA 4930430F08 gene

Synonyms

MMRRC Submission

038459-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R0206 (G1)

Quality Score

137

Status

Validated

Chromosome

Chromosomal Location

100572265-100590423 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 100586194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 69 (K69*)

Ref Sequence

ENSEMBL: ENSMUSP00000152035 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054471] [ENSMUST00000188930] [ENSMUST00000218464] [ENSMUST00000218821]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000054471
AA Change: K69*

Predicted Effect

probably benign
Transcript: ENSMUST00000188930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218156

Predicted Effect

probably null
Transcript: ENSMUST00000218328
AA Change: K40*

Predicted Effect

probably benign
Transcript: ENSMUST00000218464

Predicted Effect

probably null
Transcript: ENSMUST00000218821
AA Change: K69*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219410

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219698

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219995

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 98.2%
3x: 97.1%
10x: 94.6%
20x: 89.0%

Validation Efficiency

99% (83/84)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,282,662	C5R	probably damaging	Het
A530064D06Rik	G	A	17: 48,163,318	T165I	probably benign	Het
A830010M20Rik	A	G	5: 107,505,040	T304A	probably benign	Het
Acsl5	A	G	19: 55,280,569	K221E	probably benign	Het
Adam26a	A	C	8: 43,570,418	F12V	possibly damaging	Het
Adgrb2	T	C	4: 129,992,559	L164P	probably damaging	Het
Aldh1l1	T	C	6: 90,569,866	F384L	possibly damaging	Het
Arhgef5	A	G	6: 43,273,341	E342G	probably damaging	Het
C130079G13Rik	C	T	3: 59,932,689	R61C	probably damaging	Het
Cacna1b	A	G	2: 24,607,480	S2140P	probably damaging	Het
Camsap2	G	C	1: 136,281,000	P918R	probably damaging	Het
Cdca3	C	T	6: 124,832,551		probably benign	Het
Cenpj	G	T	14: 56,563,970	A182E	probably benign	Het
Cit	A	T	5: 115,994,030	N1782Y	possibly damaging	Het
Cmya5	A	G	13: 93,095,557	S1008P	probably damaging	Het
Csgalnact2	T	G	6: 118,114,386	Q197P	probably benign	Het
D630045J12Rik	A	G	6: 38,139,450	M1745T	probably damaging	Het
Ddt	A	G	10: 75,772,885	M1T	probably null	Het
Dnah11	A	C	12: 118,043,774	N2156K	probably damaging	Het
Dock3	G	T	9: 106,996,996	Y425*	probably null	Het
Eng	A	T	2: 32,678,993	T511S	probably benign	Het
Fam192a	A	G	8: 94,588,011	F73S	probably damaging	Het
Gabra6	C	T	11: 42,317,079	W188*	probably null	Het
Gnptab	A	T	10: 88,439,510	H1111L	probably damaging	Het
H2-M10.4	A	G	17: 36,460,483	W268R	probably damaging	Het
Hrct1	C	A	4: 43,727,384	T8K	possibly damaging	Het
Il2ra	T	C	2: 11,682,017		probably benign	Het
Inpp5k	T	C	11: 75,631,143	I15T	probably benign	Het
Ipcef1	A	G	10: 6,920,062	S113P	probably damaging	Het
Kctd8	A	T	5: 69,341,165	V46E	probably damaging	Het
Klk1b9	T	A	7: 43,979,430	N119K	possibly damaging	Het
Krtap9-3	C	A	11: 99,597,837	C73F	probably damaging	Het
Loxhd1	T	A	18: 77,404,866	F1334L	possibly damaging	Het
Me3	A	T	7: 89,849,660	T483S	probably benign	Het
Med1	A	G	11: 98,155,689		probably benign	Het
Med13	A	G	11: 86,300,856		probably benign	Het
Mvk	C	T	5: 114,458,974	T334M	probably damaging	Het
Mxra8	T	A	4: 155,842,596	I329N	probably damaging	Het
Mybphl	T	C	3: 108,375,415	V207A	probably damaging	Het
Myom1	T	C	17: 71,037,297	S266P	probably damaging	Het
Nr2f2	G	C	7: 70,360,175	P52R	probably damaging	Het
Olfr1032	T	C	2: 86,008,292	I172T	probably damaging	Het
Olfr1458	G	A	19: 13,103,278	R3C	possibly damaging	Het
Olfr308	T	C	7: 86,321,646	Y102C	probably benign	Het
Olfr412	A	T	11: 74,365,142	I158F	probably benign	Het
Olfr690	A	T	7: 105,329,883	M103K	possibly damaging	Het
Olfr693	A	G	7: 106,677,574	V304A	probably benign	Het
Pcdhb18	T	C	18: 37,490,187	I190T	possibly damaging	Het
Pgbd1	A	C	13: 21,434,481	L2R	probably damaging	Het
Pkp4	A	G	2: 59,266,436	I61V	probably damaging	Het
Pold4	T	G	19: 4,232,539	Y58*	probably null	Het
Pomgnt1	T	C	4: 116,158,560		probably null	Het
Prex2	T	A	1: 11,285,144	D1556E	probably damaging	Het
Psmd1	T	C	1: 86,133,741	V891A	possibly damaging	Het
Rmdn2	T	A	17: 79,650,287		probably benign	Het
Ryr2	A	G	13: 11,676,251		probably benign	Het
Scgb2b27	C	A	7: 34,012,137	E96*	probably null	Het
Sec16b	G	T	1: 157,552,935	G359*	probably null	Het
Slc1a3	A	G	15: 8,708,556		probably benign	Het
Slc28a1	A	T	7: 81,117,706		probably benign	Het
Slc35d1	T	C	4: 103,208,154	T177A	probably damaging	Het
Snx33	G	A	9: 56,926,224	S187L	probably damaging	Het
Spg11	C	T	2: 122,055,696		probably null	Het
Spint1	T	C	2: 119,248,345		probably benign	Het
Spta1	A	G	1: 174,192,960	H545R	probably damaging	Het
Tinag	A	G	9: 76,999,852	I367T	probably damaging	Het
Tln1	C	T	4: 43,549,151	V644M	probably damaging	Het
Tnfrsf21	C	T	17: 43,038,213	H239Y	probably benign	Het
Ube4b	T	C	4: 149,398,637	H58R	probably benign	Het
Ush2a	A	C	1: 188,531,761	I1612L	probably damaging	Het
Usp28	A	G	9: 49,028,269	Y275C	probably damaging	Het
Vmn2r6	T	C	3: 64,539,912	T578A	probably benign	Het
Vps13c	A	G	9: 67,939,162		probably benign	Het
Vwf	T	C	6: 125,637,456	F1100S	probably damaging	Het
Zfp318	G	T	17: 46,399,019	R556L	probably benign	Het
Zkscan1	T	A	5: 138,101,186	C391S	probably damaging	Het

Other mutations in 4930430F08Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01314:4930430F08Rik	APN	10	100573611	missense	probably damaging	0.97
IGL01775:4930430F08Rik	APN	10	100583937	missense	probably benign	0.41
PIT4495001:4930430F08Rik	UTSW	10	100583950	missense	probably damaging	1.00
R0731:4930430F08Rik	UTSW	10	100586203	missense	probably damaging	1.00
R1955:4930430F08Rik	UTSW	10	100577304	missense	probably damaging	1.00
R2011:4930430F08Rik	UTSW	10	100583958	missense	probably damaging	0.99
R4680:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R4682:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R4683:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R4708:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R4709:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R4742:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R4743:4930430F08Rik	UTSW	10	100578381	missense	probably benign	0.07
R6716:4930430F08Rik	UTSW	10	100573616	missense	probably benign	0.00
R7185:4930430F08Rik	UTSW	10	100589211	start gained	probably benign
R8103:4930430F08Rik	UTSW	10	100577248	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGAAAGCACTGGACACTGCACTG -3'
(R):5'- GCAGAGGCTGTGTATCTTACACCC -3'

Sequencing Primer
(F):5'- ctgaaccccgctgagac -3'
(R):5'- GCTGTGTATCTTACACCCGTTTTTC -3'

Posted On

2013-05-09