Mutagenetix > Incidental Mutations

Incidental Mutation 'R0576:4930402H24Rik'

56216

Institutional Source

Beutler Lab

Gene Symbol

4930402H24Rik

Ensembl Gene

ENSMUSG00000027309

Gene Name

RIKEN cDNA 4930402H24 gene

Synonyms

MMRRC Submission

038766-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0576 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

130706200-130906406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 130713470 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 839 (F839L)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000119422]

Predicted Effect

probably benign
Transcript: ENSMUST00000044766
AA Change: F970L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: F970L

Domain	Start	End	E-Value	Type
low complexity region	134	145	N/A	INTRINSIC
low complexity region	463	473	N/A	INTRINSIC
low complexity region	533	545	N/A	INTRINSIC
coiled coil region	1143	1171	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000119422
AA Change: F839L

PolyPhen 2 Score 0.156 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: F839L

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
low complexity region	332	342	N/A	INTRINSIC
low complexity region	402	414	N/A	INTRINSIC
coiled coil region	1012	1040	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000138758
AA Change: F109L

Predicted Effect

probably benign
Transcript: ENSMUST00000139684

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.7%
3x: 99.1%
10x: 97.6%
20x: 94.9%

Validation Efficiency

92% (47/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccdc77	T	A	6: 120,331,848	L335F	probably benign	Het
Ccr3	T	A	9: 124,029,009	F127Y	probably damaging	Het
Cfap43	T	C	19: 47,797,140	N437S	probably benign	Het
Cfh	A	G	1: 140,136,815	V365A	probably damaging	Het
Copg1	T	A	6: 87,897,963	V380D	probably damaging	Het
Cxxc1	T	C	18: 74,220,185	I497T	possibly damaging	Het
Disp3	G	A	4: 148,241,590	T1237I	possibly damaging	Het
Dnah7a	A	T	1: 53,636,087	F360L	probably benign	Het
Dnhd1	C	T	7: 105,714,045	A3938V	probably damaging	Het
Eif4g1	A	G	16: 20,684,068	D1000G	probably damaging	Het
Emsy	A	T	7: 98,593,776	V1052D	probably damaging	Het
Ep400	A	G	5: 110,711,093		probably benign	Het
Fa2h	T	C	8: 111,356,147	H146R	probably damaging	Het
Gad1	G	A	2: 70,594,652	C430Y	probably benign	Het
Gm38394	A	G	1: 133,657,838	F587S	probably benign	Het
Gtse1	T	C	15: 85,869,051	S456P	probably damaging	Het
Gucy2g	T	C	19: 55,198,770	T1073A	probably damaging	Het
Hectd2	T	G	19: 36,585,497	N3K	probably benign	Het
Hmcn1	A	T	1: 150,650,017	C3318*	probably null	Het
Lipo2	C	T	19: 33,749,424	S71N	probably benign	Het
Mynn	G	T	3: 30,607,068	D100Y	probably damaging	Het
Myo16	G	A	8: 10,562,318		probably null	Het
Npr2	G	T	4: 43,640,947	K384N	probably benign	Het
Nrde2	A	G	12: 100,132,233	V725A	possibly damaging	Het
Olfr166	A	G	16: 19,487,188	M117V	probably damaging	Het
Olfr748	T	A	14: 50,711,204	S291R	probably damaging	Het
Otud7a	C	T	7: 63,685,518	P101S	possibly damaging	Het
Pcdhb7	T	A	18: 37,342,357	L182Q	probably benign	Het
Pdss1	A	G	2: 22,915,413		probably null	Het
Ppargc1b	T	A	18: 61,311,441	H233L	probably damaging	Het
Ppm1b	A	G	17: 85,013,559		probably null	Het
Prdm14	A	T	1: 13,125,725	S37R	possibly damaging	Het
Prss45	A	G	9: 110,838,429	T39A	probably benign	Het
Qars	T	C	9: 108,514,962		probably benign	Het
Rxfp2	T	G	5: 150,038,247	H77Q	probably benign	Het
Scd4	A	G	19: 44,341,246	M219V	probably benign	Het
Sec24b	G	T	3: 130,041,336	P71Q	probably benign	Het
Snd1	T	G	6: 28,886,577	V861G	probably benign	Het
Sspo	A	G	6: 48,464,942		probably null	Het
Tas2r129	A	G	6: 132,951,534	T145A	probably benign	Het
Tbc1d31	T	A	15: 57,969,724	I953N	possibly damaging	Het
Tlr4	A	G	4: 66,839,495	N175S	probably benign	Het
Tspyl4	A	G	10: 34,298,522	N337D	probably damaging	Het
Ttn	A	T	2: 76,812,201	L13330H	probably damaging	Het
Usp33	T	A	3: 152,384,119	Y765*	probably null	Het
Vmn2r59	T	A	7: 42,047,105	Y71F	probably benign	Het
Zfhx4	T	C	3: 5,402,101	S2465P	probably damaging	Het

Other mutations in 4930402H24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00556:4930402H24Rik	APN	2	130784457	missense	probably benign	0.00
IGL01093:4930402H24Rik	APN	2	130777236	missense	probably benign	0.01
IGL01111:4930402H24Rik	APN	2	130736598	missense	possibly damaging	0.66
IGL01146:4930402H24Rik	APN	2	130770671	critical splice donor site	probably null
IGL01346:4930402H24Rik	APN	2	130791846	splice site	probably benign
IGL01548:4930402H24Rik	APN	2	130814259	missense	probably damaging	1.00
IGL02339:4930402H24Rik	APN	2	130739465	missense	probably damaging	0.97
IGL02637:4930402H24Rik	APN	2	130814307	intron	probably benign
IGL02926:4930402H24Rik	APN	2	130712366	missense	probably benign	0.00
IGL02978:4930402H24Rik	APN	2	130727162	missense	probably damaging	0.99
IGL03126:4930402H24Rik	APN	2	130791995	splice site	probably null
IGL03387:4930402H24Rik	APN	2	130717280	missense	probably damaging	1.00
best_times	UTSW	2	130736576	missense	probably damaging	0.99
Hard_times	UTSW	2	130713470	missense	probably benign	0.16
worst_times	UTSW	2	130713414	missense	probably damaging	1.00
FR4304:4930402H24Rik	UTSW	2	130770748	small insertion	probably benign
FR4342:4930402H24Rik	UTSW	2	130770742	small insertion	probably benign
FR4589:4930402H24Rik	UTSW	2	130770745	small insertion	probably benign
FR4589:4930402H24Rik	UTSW	2	130770752	small insertion	probably benign
FR4737:4930402H24Rik	UTSW	2	130770752	small insertion	probably benign
FR4976:4930402H24Rik	UTSW	2	130770739	small insertion	probably benign
FR4976:4930402H24Rik	UTSW	2	130770742	small insertion	probably benign
FR4976:4930402H24Rik	UTSW	2	130770753	small insertion	probably benign
R0034:4930402H24Rik	UTSW	2	130736572	missense	probably damaging	1.00
R0034:4930402H24Rik	UTSW	2	130736572	missense	probably damaging	1.00
R0357:4930402H24Rik	UTSW	2	130712946	splice site	probably benign
R0379:4930402H24Rik	UTSW	2	130785546	splice site	probably benign
R0515:4930402H24Rik	UTSW	2	130740488	missense	probably damaging	1.00
R0811:4930402H24Rik	UTSW	2	130713414	missense	probably damaging	1.00
R0812:4930402H24Rik	UTSW	2	130713414	missense	probably damaging	1.00
R1334:4930402H24Rik	UTSW	2	130775722	splice site	probably null
R1485:4930402H24Rik	UTSW	2	130748683	critical splice donor site	probably null
R1486:4930402H24Rik	UTSW	2	130737418	missense	probably damaging	1.00
R1670:4930402H24Rik	UTSW	2	130712379	missense	probably damaging	1.00
R1678:4930402H24Rik	UTSW	2	130814273	missense	probably damaging	0.99
R1700:4930402H24Rik	UTSW	2	130709938	missense	probably damaging	0.99
R1742:4930402H24Rik	UTSW	2	130740395	splice site	probably null
R2046:4930402H24Rik	UTSW	2	130810917	missense	possibly damaging	0.61
R2374:4930402H24Rik	UTSW	2	130820574	missense	probably damaging	1.00
R3878:4930402H24Rik	UTSW	2	130778503	missense	possibly damaging	0.92
R3907:4930402H24Rik	UTSW	2	130736576	missense	probably damaging	0.99
R4467:4930402H24Rik	UTSW	2	130767647	missense	probably damaging	0.96
R4931:4930402H24Rik	UTSW	2	130741873	missense	possibly damaging	0.58
R5098:4930402H24Rik	UTSW	2	130798181	missense	probably damaging	0.99
R5191:4930402H24Rik	UTSW	2	130737403	missense	possibly damaging	0.68
R5313:4930402H24Rik	UTSW	2	130709268	missense	probably damaging	1.00
R5405:4930402H24Rik	UTSW	2	130712460	missense	probably damaging	1.00
R5436:4930402H24Rik	UTSW	2	130764499	missense	probably benign	0.16
R5522:4930402H24Rik	UTSW	2	130814302	intron	probably benign
R5783:4930402H24Rik	UTSW	2	130739083	missense	possibly damaging	0.59
R5931:4930402H24Rik	UTSW	2	130814189	missense	probably damaging	1.00
R6145:4930402H24Rik	UTSW	2	130778473	missense	probably benign
R6732:4930402H24Rik	UTSW	2	130810820	critical splice donor site	probably null
R6938:4930402H24Rik	UTSW	2	130775753	missense	probably benign	0.00
R7161:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7193:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7194:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7233:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7234:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7238:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7239:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7268:4930402H24Rik	UTSW	2	130806788	missense	unknown
R7807:4930402H24Rik	UTSW	2	130710865	missense	probably damaging	1.00
R7904:4930402H24Rik	UTSW	2	130792003	splice site	probably null
R7999:4930402H24Rik	UTSW	2	130737452	missense	probably benign	0.00
R8047:4930402H24Rik	UTSW	2	130775099	missense	probably damaging	0.98
R8286:4930402H24Rik	UTSW	2	130717328	missense	probably damaging	1.00
R8315:4930402H24Rik	UTSW	2	130770735	small deletion	probably benign
R8439:4930402H24Rik	UTSW	2	130770701	missense	probably damaging	1.00
R8925:4930402H24Rik	UTSW	2	130737380	nonsense	probably null
R8927:4930402H24Rik	UTSW	2	130737380	nonsense	probably null
RF027:4930402H24Rik	UTSW	2	130770744	small insertion	probably benign
RF038:4930402H24Rik	UTSW	2	130770744	nonsense	probably null
RF046:4930402H24Rik	UTSW	2	130770734	nonsense	probably null
RF048:4930402H24Rik	UTSW	2	130770734	nonsense	probably null
Z1177:4930402H24Rik	UTSW	2	130710867	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TTGAGAAAACACCGAGGACACTGAC -3'
(R):5'- GCTCATCCAAAGGGAGCAGCATAG -3'

Sequencing Primer
(F):5'- GGAAAGGGACGGCTTCCATC -3'
(R):5'- GAGCAGCATAGAGACCCTAAAAC -3'

Posted On

2013-07-11