Mutagenetix > Incidental Mutation

Incidental Mutation 'R7904:4930402H24Rik'

628756

Institutional Source

Beutler Lab

Gene Symbol

4930402H24Rik

Ensembl Gene

ENSMUSG00000027309

Gene Name

RIKEN cDNA 4930402H24 gene

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7904 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

130706200-130906406 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 130792003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

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

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	G	A	7: 139,987,678	T384I	probably benign	Het
Astn1	T	C	1: 158,597,316	F691L	probably benign	Het
Azgp1	A	G	5: 137,987,607	E164G	probably damaging	Het
Bdp1	A	G	13: 100,041,436	V1975A	probably benign	Het
Cactin	T	C	10: 81,325,865	Y744H	possibly damaging	Het
Clstn1	T	A	4: 149,614,137	I60N	probably benign	Het
Col16a1	T	A	4: 130,054,208	C240*	probably null	Het
Col6a5	T	C	9: 105,928,521	D1062G	unknown	Het
Csmd2	T	C	4: 128,419,553	L1341P		Het
Cyp51	A	T	5: 4,100,173	F183L	probably damaging	Het
Dbnl	T	A	11: 5,791,779		probably null	Het
Ddx60	G	A	8: 61,977,890	V820I	possibly damaging	Het
Dnah11	T	A	12: 117,903,268	D4046V	possibly damaging	Het
Dnah6	G	A	6: 73,135,467		probably null	Het
Dnttip1	A	G	2: 164,747,552	Y89C	probably benign	Het
Efr3a	T	A	15: 65,824,678	V144E	probably damaging	Het
Epha8	T	C	4: 136,931,739	Q868R	possibly damaging	Het
Ercc5	G	T	1: 44,175,838		probably null	Het
Fam118a	A	G	15: 85,045,633	S21G	probably damaging	Het
Fam171b	T	C	2: 83,853,505	I122T	probably damaging	Het
Fam205a1	A	G	4: 42,850,765	S464P	possibly damaging	Het
Fam212b	T	C	3: 105,716,414	C35R	probably damaging	Het
Fat4	T	A	3: 38,887,541	S194R	probably damaging	Het
Fcho2	T	A	13: 98,796,363	T44S	possibly damaging	Het
Gm21698	C	A	5: 25,984,258	L232F	probably benign	Het
Gm5767	A	G	16: 8,683,817	H61R		Het
Gpr149	T	A	3: 62,594,935	D500V	probably benign	Het
Gpx8	T	A	13: 113,045,501	T133S	probably benign	Het
Hdlbp	A	T	1: 93,423,370	I542N	probably damaging	Het
Hid1	G	A	11: 115,355,361	S361F	probably damaging	Het
Igdcc4	C	A	9: 65,134,519	A1076E	probably benign	Het
Il4ra	A	G	7: 125,565,673	K7E	probably benign	Het
Itga9	G	T	9: 118,877,226		probably null	Het
Kif5c	T	C	2: 49,701,083	S316P	probably damaging	Het
Kmt5c	A	T	7: 4,746,159	T264S	probably damaging	Het
Lrrc18	A	G	14: 33,009,095	N197S	probably benign	Het
Mcoln1	C	A	8: 3,508,356	D203E	probably benign	Het
Mitf	T	C	6: 98,013,710	V358A	probably damaging	Het
Mki67	A	T	7: 135,693,087	L3161Q	possibly damaging	Het
Mmp20	T	A	9: 7,644,075	F255I	possibly damaging	Het
Muc16	T	C	9: 18,655,650	T1858A	unknown	Het
Mug1	G	A	6: 121,851,465	V279I	probably benign	Het
Olfr780	T	C	10: 129,321,796	Y58H	probably damaging	Het
Otulin	G	T	15: 27,630,494	A39E	probably benign	Het
Pcdh17	A	T	14: 84,448,484	D797V	possibly damaging	Het
Pdlim5	G	A	3: 142,312,393	S147L	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Ppp2r1a	T	G	17: 20,961,741		probably null	Het
Ranbp6	T	C	19: 29,812,413	I180V	probably benign	Het
Rbm27	G	T	18: 42,332,856	R869L	probably damaging	Het
Rtn4r	A	G	16: 18,151,485	D259G	probably benign	Het
Ryr3	T	C	2: 112,781,024	E2271G	probably damaging	Het
Sbk1	A	G	7: 126,292,036	Y214C	probably damaging	Het
Scg3	C	T	9: 75,643,867	E459K	probably damaging	Het
Scin	T	G	12: 40,077,000	E449D	probably damaging	Het
Sel1l3	T	C	5: 53,139,824	K760R	probably benign	Het
Sh3pxd2a	A	G	19: 47,320,314	L145S	possibly damaging	Het
Sh3yl1	A	G	12: 30,941,996	D188G	probably benign	Het
Slc38a1	A	T	15: 96,624,040	L13Q	possibly damaging	Het
Smyd4	T	C	11: 75,349,787	I36T	possibly damaging	Het
Stab2	A	T	10: 86,954,192	L570*	probably null	Het
Tg	G	T	15: 66,705,279	A1484S	probably benign	Het
Tm7sf2	A	T	19: 6,068,912	N677K	probably damaging	Het
Tmem235	T	G	11: 117,860,891	L47R	probably damaging	Het
Tmem87a	A	G	2: 120,379,717	S252P	probably damaging	Het
Unc13b	A	G	4: 43,217,075	D458G	probably benign	Het
Wfdc1	A	G	8: 119,680,031		probably null	Het
Wnt16	A	G	6: 22,297,990	Y285C	probably damaging	Het
Wwc2	A	T	8: 47,856,235	N837K	unknown	Het
Xdh	A	G	17: 73,922,472	F329L	probably benign	Het
Yaf2	G	T	15: 93,285,585	H115N	probably benign	Het
Zbtb16	G	T	9: 48,832,972	N13K	probably damaging	Het
Zfhx3	A	T	8: 108,951,063	D2915V	probably damaging	Het
Zfp236	A	T	18: 82,609,382	V1564E	possibly damaging	Het
Zfp407	G	T	18: 84,561,256	H577Q	not run	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
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'- AAAGATTCCTTTTGGCCAGCAG -3'
(R):5'- AACTTAGCAGGGGTATAGTTCTGAC -3'

Sequencing Primer
(F):5'- TTAACCAAGTACCAGACAGTCTG -3'
(R):5'- CCTCCATGGGTCACTAGGATGAATC -3'

Posted On

2020-06-19