Mutagenetix > Incidental Mutations

Incidental Mutation 'RF038:4930402H24Rik'

604653

Institutional Source

Beutler Lab

Gene Symbol

4930402H24Rik

Ensembl Gene

ENSMUSG00000027309

Gene Name

RIKEN cDNA 4930402H24 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF038 (G1)

Quality Score

177.468

Status

Not validated

Chromosome

Chromosomal Location

130706200-130906406 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

CTC to CTCATC at 130770744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000044766

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309

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 null
Transcript: ENSMUST00000119422

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309

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

probably null
Transcript: ENSMUST00000145851

SMART Domains

Protein: ENSMUSP00000118946
Gene: ENSMUSG00000027309

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	76	88	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.5%

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: 47 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
A030005L19Rik	TGT	TGTAGCTGCGGT	1: 82,913,580	probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201	probably benign	Het
Acap3	GCATCCTGGGCTGCT	GCATCCTGGGCTGCTTCATCCTGGGCTGCT	4: 155,905,092	probably benign	Het
AI837181	GGC	GGCAGC	19: 5,425,226	probably benign	Het
AI837181	GCG	GCGACG	19: 5,425,236	probably benign	Het
Cdx1	CTGCTG	CTGCTGGTGCTG	18: 61,019,870	probably benign	Het
Cyb5r4	CCAGGGA	CCAGGGATGTGACACACACACTGCGCAGGGA	9: 87,040,442	probably benign	Het
Dbr1	GAGGAG	GAGGAGAAGGAG	9: 99,583,697	probably benign	Het
Dmkn	GTGGAAGTGGTGG	GTGGAAGTGGTGGAAGTGGTGGAAGTGTTGGAAGTGGTGG	7: 30,767,194	probably benign	Het
Enah	TGGCGGCGG	TGG	1: 181,921,935	probably benign	Het
Fam45a	ACTC	ACTCCTC	19: 60,814,618	probably benign	Het
Fam71e1	TGGGTCTGAGGGAGGA	TGGGTCTGAGGGAGGAAGGCTGGATCCTGGATACCGGGGTCTGAGGGAGGA	7: 44,500,522	probably null	Het
Flywch1	ACCCACTCCTGGTGT	ACCCACTCCTGGTGTGGGGAGGCTACGTACTCCCCCACTCCTGGTGT	17: 23,762,164	probably null	Het
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396	probably benign	Het
Fscb	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	CTTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAAATTCTACAGGGGCCTCCTCAGTTGCTGGAGGTAGAACTTCTACAGGGGCCTCCTCAGTTGCTGGAGGT	12: 64,472,569	probably benign	Het
Fsip2	TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA	TAGATGTGAAACTCTTAGAGGTAAGA	2: 82,994,008	probably null	Het
Gas1	CGAGGA	CGAGGAGGA	13: 60,176,528	probably benign	Het
Gas1	AG	AGATG	13: 60,176,530	probably benign	Het
Gm15155	CAAAAA	CAAAAACAAAAAA	X: 156,345,640	probably null	Het
Habp4	TGAGG	TG	13: 64,162,162	probably benign	Het
Hsdl2	CACAGCTGCAG	CACAGCTGCAGCAGCAGCGACAGCTGCAG	4: 59,610,648	probably benign	Het
Il2	CTT	CTTCAAGTGGGGATT	3: 37,125,821	probably null	Het
Ivl	CTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	3: 92,572,300	probably benign	Het
Krtap28-10	CA	CAACCAAA	1: 83,042,128	probably benign	Het
Krtap28-10	CAGCCACAGCCACCACAGCCACAGCCACCA	CAGCCACAGCCACCAAAGCCACAGCCACCACAGCCACAGCCACCA	1: 83,042,257	probably benign	Het
Lmx1b	CATCTTGATGCCGTCCAA	C	2: 33,640,509	probably null	Het
Lrmp	TG	TGAGCACATCG	6: 145,173,790	probably benign	Het
Mamld1	CAG	CAGGAG	X: 71,118,846	probably benign	Het
Nefh	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,012	probably benign	Het
Nefh	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,018	probably benign	Het
Nefh	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,019	probably benign	Het
Nefh	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	CTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,027	probably benign	Het
Nefh	GGGGACTTGGCCTCACCTGGGGACTTGGCCTC	GGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,029	probably benign	Het
Nefh	CTCACCTGGGGACTTGGC	CTCACCTGGGGACTTGGCATCACCTGGGGACTTGGC	11: 4,941,040	probably benign	Het
Pabpc6	AGCTGC	AGC	17: 9,668,115	probably benign	Het
Pkhd1l1	TTTTTT	TTTTTTTTGTTTTT	15: 44,558,503	probably benign	Het
Rassf6	TGTAGAGCAATGGGGATTC	TGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCAGTAGAGCAATGGGGATTC	5: 90,608,924	probably benign	Het
Rassf6	GCAATGGGGATTC	GCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGATCAATGGGGATTC	5: 90,608,930	probably benign	Het
Rbm12	CAGGTATTGCGGGACC	CAGGTATTGCGGGACCTGGTATTGCGGGACCAGGTATTGCGGGACC	2: 156,096,106	probably benign	Het
Sbp	AAGATG	AAGATGCTGACAACACAGATG	17: 23,945,384	probably benign	Het
Strn	CCCAGTC	CCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACGCCAGTC	17: 78,677,282	probably null	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647	probably benign	Het
Tcof1	TCCCAGAGATCCCC	TCCCAGAGATCCCCCTGGCTGCTGAGATGGGCACTTCCCCAGAGATCCCC	18: 60,833,566	probably benign	Het
Tfeb	AGC	AGCGGC	17: 47,786,105	probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112	probably benign	Het
Trappc9	GCTGCTGCT	GCTGCTGCTGCTGCTCCTGCTGCT	15: 72,801,323	probably benign	Het
Zfhx3	CAGCA	CAGCACCAGAAGCA	8: 108,956,101	probably benign	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
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
R9070:4930402H24Rik	UTSW	2	130812873	missense	possibly damaging	0.61
R9367:4930402H24Rik	UTSW	2	130739460	missense	probably benign	0.00
RF027:4930402H24Rik	UTSW	2	130770744	small insertion	probably benign
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'- AATCAGTTGGCTGGCTGTCATC -3'
(R):5'- TCAGGGATCCATCACCTGTTGG -3'

Sequencing Primer
(F):5'- CTGGCTGTCATCTTTGGCTTAG -3'
(R):5'- CCATCACCTGTTGGAAAGTCTGAG -3'

Posted On

2019-12-04