Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02926:4930402H24Rik'

363888

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930402H24Rik

Ensembl Gene

ENSMUSG00000027309

Gene Name

RIKEN cDNA 4930402H24 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.210) question?

Stock #

IGL02926

Quality Score

Status

Chromosome

Chromosomal Location

130706200-130906406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 130712366 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 921 (R921K)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000044766
AA Change: R1052K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: R1052K

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: R921K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: R921K

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: R191K

Predicted Effect

probably benign
Transcript: ENSMUST00000139684

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	A	T	6: 85,641,450	D2826V	probably damaging	Het
Alpl	C	T	4: 137,742,634	A460T	probably damaging	Het
C2cd5	A	G	6: 143,031,237		probably benign	Het
C4b	C	T	17: 34,730,712	R1468Q	possibly damaging	Het
Calu	A	G	6: 29,366,920	T44A	possibly damaging	Het
Cgn	T	C	3: 94,778,016	K399R	probably benign	Het
Cyp2t4	G	A	7: 27,157,803	V356M	probably damaging	Het
D430041D05Rik	T	C	2: 104,214,259	D683G	probably damaging	Het
Dhcr24	T	A	4: 106,586,355	I410N	probably damaging	Het
Dmap1	T	A	4: 117,681,888	E17V	probably benign	Het
Dnah7a	A	G	1: 53,495,950	I2717T	possibly damaging	Het
Epb41l3	G	T	17: 69,247,746	K280N	probably damaging	Het
Espl1	T	A	15: 102,299,855	M432K	probably damaging	Het
Fgf5	C	A	5: 98,262,015	A141E	probably damaging	Het
Fto	T	A	8: 91,485,167	F373L	probably damaging	Het
Gpatch1	T	C	7: 35,308,269	D122G	probably damaging	Het
Ints11	T	C	4: 155,888,111		probably null	Het
Jarid2	A	G	13: 44,902,929	Q398R	probably benign	Het
Kcnh1	A	G	1: 192,276,900	D254G	probably damaging	Het
Lamc3	C	T	2: 31,935,725		probably benign	Het
Lamc3	C	T	2: 31,935,726		probably benign	Het
Ltbp4	T	C	7: 27,328,872		probably null	Het
Mcm6	A	G	1: 128,339,382	Y575H	probably damaging	Het
Myh9	A	C	15: 77,787,626	Y422D	probably damaging	Het
Narfl	A	G	17: 25,782,154	H460R	probably benign	Het
Olfr1260	T	C	2: 89,978,162	L128P	probably damaging	Het
Olfr1458	A	C	19: 13,102,823	N160K	possibly damaging	Het
Olfr911-ps1	T	C	9: 38,523,725		probably benign	Het
Plcb1	T	C	2: 135,364,762		probably benign	Het
Pmfbp1	A	G	8: 109,520,249	E251G	probably damaging	Het
Psg27	A	T	7: 18,557,129	V383E	probably damaging	Het
Ptprn	A	T	1: 75,247,873	H946Q	possibly damaging	Het
Rbl1	A	G	2: 157,167,413	V734A	probably benign	Het
Rspry1	T	A	8: 94,649,811	N320K	probably damaging	Het
Ryr1	A	T	7: 29,061,540	V3219D	probably damaging	Het
Ryr2	C	A	13: 11,759,835	W1145L	probably damaging	Het
Scel	A	T	14: 103,576,247	R319*	probably null	Het
Stxbp2	C	T	8: 3,635,629	T226I	probably benign	Het
Tac1	A	T	6: 7,562,410	N106I	possibly damaging	Het
Trim13	G	T	14: 61,605,244		probably null	Het
Tspan31	T	G	10: 127,068,909		probably null	Het
Usp36	C	T	11: 118,264,783	V723M	probably benign	Het
Utrn	A	T	10: 12,690,760	N1219K	probably damaging	Het
Vcan	G	T	13: 89,688,623	T2934K	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
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
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

Posted On

2015-12-18