Mutagenetix > Incidental Mutation

Incidental Mutation 'R6145:4930402H24Rik'

488793

Institutional Source

Beutler Lab

Gene Symbol

4930402H24Rik

Ensembl Gene

ENSMUSG00000027309

Gene Name

RIKEN cDNA 4930402H24 gene

Synonyms

MMRRC Submission

044292-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6145 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

130706200-130906406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130778473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 247 (I247V)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044766
AA Change: I378V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: I378V

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: I247V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: I247V

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

noncoding transcript
Transcript: ENSMUST00000123049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148924

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 95.0%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	T	A	1: 86,052,942		probably null	Het
Abca8b	A	G	11: 109,973,808	V316A	probably benign	Het
Acad10	A	T	5: 121,622,033	V999D	probably damaging	Het
Acot8	A	G	2: 164,803,065	V66A	probably benign	Het
Ankrd11	T	C	8: 122,892,661	H1484R	probably damaging	Het
Anxa6	A	G	11: 54,994,904	F405S	probably damaging	Het
Asmt	G	A	X: 170,674,663	V101I	probably damaging	Het
Atp1a2	C	T	1: 172,287,238	V327I	probably damaging	Het
Brdt	A	G	5: 107,377,999	E906G	possibly damaging	Het
Cacna1g	A	T	11: 94,462,261	C313S	probably damaging	Het
Camk2d	T	C	3: 126,805,858	I329T	probably benign	Het
Cavin4	A	T	4: 48,663,794	H58L	probably damaging	Het
Ccdc78	C	A	17: 25,789,065	P317T	probably benign	Het
Cdc16	T	G	8: 13,767,573	Y295D	possibly damaging	Het
Cdyl2	T	A	8: 116,594,978	N270I	probably damaging	Het
Cfap221	T	A	1: 119,984,816	I114F	possibly damaging	Het
Dmxl1	A	G	18: 49,912,766	E2414G	possibly damaging	Het
Dnah1	C	A	14: 31,300,970	R1070L	probably benign	Het
Dnah14	T	C	1: 181,666,417	S1713P	probably benign	Het
Dock10	C	A	1: 80,575,904	G602*	probably null	Het
Ep400	A	T	5: 110,756,703	V10D	possibly damaging	Het
Epas1	T	C	17: 86,829,429	C807R	probably benign	Het
Esrrb	C	T	12: 86,505,899	P200L	probably benign	Het
Fbxw26	T	C	9: 109,732,623	I168V	probably benign	Het
Fsip2	A	T	2: 82,993,768	H6615L	possibly damaging	Het
Galk2	A	T	2: 125,946,842	Q272L	possibly damaging	Het
Gas7	A	C	11: 67,629,612	T43P	probably damaging	Het
Gm5134	A	T	10: 75,995,839	I371F	probably damaging	Het
Gpr31b	C	T	17: 13,051,379	R301Q	possibly damaging	Het
Grk1	T	A	8: 13,405,765	Y216*	probably null	Het
Grm5	T	A	7: 88,026,601	M441K	probably damaging	Het
Heatr6	A	G	11: 83,766,136	E408G	probably damaging	Het
Hoxc9	G	T	15: 102,983,959	K201N	probably damaging	Het
Igsf10	T	A	3: 59,331,656	Y368F	possibly damaging	Het
Il2ra	A	T	2: 11,680,246	D131V	probably damaging	Het
Imp4	A	G	1: 34,440,096	E19G	probably benign	Het
Kcnk18	T	C	19: 59,235,607	*395Q	probably null	Het
Kdm6b	A	T	11: 69,405,026	L805Q	unknown	Het
Lgr4	T	A	2: 110,007,243	L427*	probably null	Het
Myt1l	G	A	12: 29,832,381	S525N	unknown	Het
Nasp	G	A	4: 116,611,077	T237I	probably benign	Het
Nell2	G	T	15: 95,473,561	Q98K	probably damaging	Het
Nfasc	C	T	1: 132,634,717	G107R	probably damaging	Het
Nsun4	A	G	4: 116,040,206	S203P	probably damaging	Het
Olfr24	T	G	9: 18,755,569	D22A	probably benign	Het
Olfr855	T	C	9: 19,584,888	V117A	probably benign	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pde10a	T	C	17: 8,929,117	V366A	probably damaging	Het
Pdxk	T	A	10: 78,443,791	D250V	probably benign	Het
Pih1d1	T	A	7: 45,159,044	I179N	probably damaging	Het
Plaa	T	A	4: 94,583,992	I294F	probably damaging	Het
Pmel	C	A	10: 128,715,935	P213T	probably damaging	Het
Pom121l2	A	T	13: 21,982,302	R248*	probably null	Het
Pou2f1	T	C	1: 165,875,433		probably benign	Het
Ppm1j	G	A	3: 104,781,379	R98H	probably damaging	Het
Prkdc	C	T	16: 15,772,073	P2600L	probably damaging	Het
Prom1	T	C	5: 44,029,649	N422S	probably benign	Het
Pspn	C	T	17: 56,999,467	C154Y	probably damaging	Het
Ptdss1	T	C	13: 66,972,637		probably null	Het
Rapgef1	A	G	2: 29,736,666	Y993C	probably damaging	Het
Scrn2	A	C	11: 97,032,853	T219P	probably benign	Het
Sec23ip	T	G	7: 128,778,484	S874R	probably damaging	Het
Sept4	G	A	11: 87,585,246		probably null	Het
Slc15a3	C	T	19: 10,857,251	L499F	probably damaging	Het
Spaca9	G	A	2: 28,693,781	R64W	probably damaging	Het
Sra1	A	G	18: 36,667,575	M193T	probably damaging	Het
Srsf4	G	T	4: 131,900,294		probably benign	Het
Syne1	T	C	10: 5,052,750	D8055G	probably damaging	Het
Syne4	T	A	7: 30,316,563		probably null	Het
Tbc1d24	C	A	17: 24,208,229	G253V	probably damaging	Het
Tbck	T	A	3: 132,732,215	I467N	probably damaging	Het
Tln1	T	A	4: 43,538,030	M1857L	possibly damaging	Het
Ttll2	T	C	17: 7,351,632	R299G	probably benign	Het
Ugt2b36	T	G	5: 87,066,213	E524A	probably benign	Het
Vmn2r124	C	T	17: 18,062,851	T269I	probably benign	Het
Vmn2r4	A	G	3: 64,406,943	F206L	probably benign	Het
Zfp346	A	G	13: 55,115,574	K156R	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
R0576:4930402H24Rik	UTSW	2	130713470	missense	probably benign	0.16
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
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
R9070:4930402H24Rik	UTSW	2	130812873	missense	possibly damaging	0.61
R9367:4930402H24Rik	UTSW	2	130739460	missense	probably benign	0.00
R9558:4930402H24Rik	UTSW	2	130775740	missense	probably damaging	1.00
R9565:4930402H24Rik	UTSW	2	130806791	missense	unknown
R9758:4930402H24Rik	UTSW	2	130713018	missense	probably damaging	0.99
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'- TTCAAGTGCTACAGGCTTGG -3'
(R):5'- CCACATTTATGGGCATAGAACTTTTCC -3'

Sequencing Primer
(F):5'- AAGTGCTACAGGCTTGGCTACC -3'
(R):5'- CCAGAAAATGACATCTTGTTCCCTGG -3'

Posted On

2017-10-10