Mutagenetix > Incidental Mutation

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

Essential gene?

Non essential (E-score: 0.000) 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 (GRCm38)

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]

AlphaFold

no structure available at present

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
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
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

Posted On

2015-12-18