Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:4930402H24Rik'

461826

Institutional Source

Beutler Lab

Gene Symbol

4930402H24Rik

Ensembl Gene

ENSMUSG00000027309

Gene Name

RIKEN cDNA 4930402H24 gene

Synonyms

MMRRC Submission

044126-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130706200-130906406 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 130814189 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 2 (T2M)

Ref Sequence

ENSEMBL: ENSMUSP00000113481 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044766] [ENSMUST00000110243] [ENSMUST00000119422] [ENSMUST00000120316] [ENSMUST00000138990] [ENSMUST00000146975]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000044766
AA Change: T133M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000046992
Gene: ENSMUSG00000027309
AA Change: T133M

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 damaging
Transcript: ENSMUST00000110243
AA Change: T133M

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105872
Gene: ENSMUSG00000027309
AA Change: T133M

Domain	Start	End	E-Value	Type
low complexity region	134	145	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000119422
AA Change: T2M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113481
Gene: ENSMUSG00000027309
AA Change: T2M

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: ENSMUST00000120316
AA Change: T2M

SMART Domains

Protein: ENSMUSP00000112540
Gene: ENSMUSG00000027309
AA Change: T2M

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123049

Predicted Effect

unknown
Transcript: ENSMUST00000138990
AA Change: T2M

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142128

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144014

Predicted Effect

probably benign
Transcript: ENSMUST00000146975

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148924

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	T	6: 91,919,115	R315W	probably damaging	Het
Atrn	A	T	2: 130,933,436	Y153F	possibly damaging	Het
C4b	A	G	17: 34,729,193	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,498,940	K654T	probably damaging	Het
Cdh1	T	C	8: 106,666,332		probably null	Het
Chrna1	C	T	2: 73,568,100	V332M	probably benign	Het
Clca2	A	C	3: 145,092,125	V193G	possibly damaging	Het
Cyld	A	G	8: 88,729,842		probably null	Het
Dbt	A	T	3: 116,523,425	E83D	possibly damaging	Het
Deup1	T	C	9: 15,561,322	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,857,309	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,558,038	R524*	probably null	Het
Dnah5	A	T	15: 28,453,279	R4399W	probably damaging	Het
Egflam	G	A	15: 7,243,857	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,222,787	T211I	probably damaging	Het
Ep400	A	G	5: 110,735,520		probably benign	Het
Ermp1	C	G	19: 29,615,729	A788P	probably benign	Het
Ern1	A	G	11: 106,426,873	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,981,125	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,568,867	S444T	probably benign	Het
Gabra6	G	A	11: 42,307,441	T384M	probably benign	Het
Gm6169	A	G	13: 97,099,197	L14S	probably benign	Het
Gpbp1l1	T	C	4: 116,590,260	V379A	probably benign	Het
Hook2	G	T	8: 84,995,746	E305*	probably null	Het
Hoxa3	G	A	6: 52,172,588	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,341,915	P339Q	probably benign	Het
Igha	T	A	12: 113,260,090	T49S	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Lats2	A	G	14: 57,696,131	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,421,616	T255A	probably benign	Het
Lpar6	A	G	14: 73,238,928	I110V	probably damaging	Het
Lrrtm4	A	G	6: 80,021,739	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,471,166	V371A	probably benign	Het
Muc20	A	T	16: 32,794,574	D144E	possibly damaging	Het
Nphp3	T	A	9: 104,020,746	D417E	probably damaging	Het
Olfr853	A	T	9: 19,537,333	I199K	probably benign	Het
Olfr889	A	G	9: 38,116,374	I193V	probably benign	Het
Paqr7	A	C	4: 134,507,720	Y296S	probably damaging	Het
Pcdha4	A	T	18: 36,954,755	T664S	probably damaging	Het
Pelo	T	A	13: 115,088,843	Y282F	probably benign	Het
Plxna2	A	T	1: 194,810,870	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,350,674	D319G	probably benign	Het
Pnmal1	C	A	7: 16,960,884	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,483,466		probably null	Het
Prkca	T	G	11: 108,014,310	I201L	probably benign	Het
Rfx2	G	A	17: 56,780,778	R538C	probably damaging	Het
Rph3a	T	C	5: 120,963,873	Q100R	probably damaging	Het
Rtel1	C	T	2: 181,330,815	R29*	probably null	Het
Scel	T	A	14: 103,605,624	Y547*	probably null	Het
Sp100	C	T	1: 85,679,083	P303L	probably damaging	Het
Stk31	A	G	6: 49,469,302	S958G	probably benign	Het
Syne2	T	A	12: 76,008,865	V4168E	probably benign	Het
Tenm3	A	T	8: 48,646,498	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tmem248	T	A	5: 130,229,508	I14N	probably damaging	Het
Tor3a	T	C	1: 156,656,487	I298V	probably benign	Het
Trim69	A	T	2: 122,178,594	K378N	probably damaging	Het
Ttc28	C	T	5: 111,085,109	P151S	possibly damaging	Het
Uaca	T	C	9: 60,872,012	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,777,335	I343V	probably benign	Het
Wnk4	A	G	11: 101,261,221	T184A	probably damaging	Het
Ythdc2	T	A	18: 44,872,956	I1172K	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGTCTCCTTCAGGCAGACAAC -3'
(R):5'- AACTCTGACTTGCTTACTACAGTC -3'

Sequencing Primer
(F):5'- TTCAGGCAGACAACCCAACG -3'
(R):5'- CAGTGGAGTTACTAATTTCCCAAGC -3'

Posted On

2017-02-28