Mutagenetix > Incidental Mutations

Incidental Mutation 'R6054:4930562C15Rik'

484332

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

044222-MU

Accession Numbers

Ncbi RefSeq: NM_030192.1; MGI:1926059

Is this an essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

4835416-4867686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4835865 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 93 (S93P)

Ref Sequence

ENSEMBL: ENSMUSP00000097784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000177042]

Predicted Effect

unknown
Transcript: ENSMUST00000100211
AA Change: S93P

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: S93P

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.54e-5	PROSPERO
internal_repeat_1	314	341	2.54e-5	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
Pfam:DUF4795	745	960	1.7e-46	PFAM
low complexity region	1095	1109	N/A	INTRINSIC
low complexity region	1111	1125	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177042

SMART Domains

Protein: ENSMUSP00000135160
Gene: ENSMUSG00000022518

Domain	Start	End	E-Value	Type
coiled coil region	74	101	N/A	INTRINSIC
coiled coil region	181	211	N/A	INTRINSIC
internal_repeat_1	289	315	2.39e-6	PROSPERO
internal_repeat_1	314	341	2.39e-6	PROSPERO
low complexity region	360	377	N/A	INTRINSIC
low complexity region	402	424	N/A	INTRINSIC
low complexity region	452	469	N/A	INTRINSIC
internal_repeat_2	470	523	5.51e-5	PROSPERO
internal_repeat_2	514	568	5.51e-5	PROSPERO
low complexity region	573	604	N/A	INTRINSIC
low complexity region	616	627	N/A	INTRINSIC
low complexity region	630	647	N/A	INTRINSIC
low complexity region	652	672	N/A	INTRINSIC
coiled coil region	781	799	N/A	INTRINSIC
low complexity region	807	818	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam28	T	A	14: 68,642,152	N149I	probably benign	Het
Adam4	A	C	12: 81,420,054	F598V	probably damaging	Het
Adh5	A	G	3: 138,445,375	H33R	possibly damaging	Het
Apoh	A	G	11: 108,395,975	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,294,420	E235G	possibly damaging	Het
Atm	T	C	9: 53,459,873	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 101,039,889	P514L	possibly damaging	Het
Brd9	T	A	13: 73,940,741	M195K	probably damaging	Het
Cacna1a	T	G	8: 84,556,785	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,274,769	H122L	unknown	Het
Ccs	A	T	19: 4,825,865	D192E	probably benign	Het
Cd3e	G	A	9: 45,002,161	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,406,963	F1249L	possibly damaging	Het
Col16a1	G	A	4: 130,061,722		probably benign	Het
Col17a1	A	G	19: 47,680,420	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,346,236	I2318L	probably benign	Het
Dhx35	T	A	2: 158,818,299	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,857,386	N297K	probably benign	Het
Dsp	G	A	13: 38,167,609	G135S	probably benign	Het
Efhb	C	T	17: 53,398,999	V837I	possibly damaging	Het
Efs	C	T	14: 54,921,157	D15N	probably damaging	Het
Fbxl19	C	T	7: 127,752,509	T314I	probably damaging	Het
Gm11595	A	T	11: 99,772,648	C69S	unknown	Het
Grxcr2	A	G	18: 41,986,678	V199A	probably benign	Het
Hadha	T	C	5: 30,123,684	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,997,940		probably benign	Het
Hps1	A	T	19: 42,770,778	V125E	probably damaging	Het
Hrg	A	T	16: 22,953,662	T74S	probably benign	Het
Idh3a	T	C	9: 54,586,545		probably benign	Het
Leng8	C	A	7: 4,145,523		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,621,399		probably benign	Het
Mctp2	T	C	7: 72,259,103	H154R	probably benign	Het
Megf6	A	G	4: 154,263,179	E777G	probably benign	Het
Mgea5	A	G	19: 45,776,132	S190P	probably damaging	Het
Miip	A	G	4: 147,865,678	S154P	probably benign	Het
Mprip	T	C	11: 59,758,425	V985A	probably benign	Het
Nmrk2	G	A	10: 81,199,634	R158W	probably damaging	Het
Nsd2	T	C	5: 33,882,161	S180P	probably damaging	Het
Olfr1377	G	A	11: 50,984,804	M34I	probably benign	Het
Olfr66	A	G	7: 103,881,826	V139A	probably damaging	Het
Opa1	T	G	16: 29,615,134	S596A	probably damaging	Het
Pcdha2	A	G	18: 36,940,804	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,321,080	V171G	probably damaging	Het
Pramel6	A	G	2: 87,508,659	T68A	probably benign	Het
Ptprq	T	C	10: 107,582,358	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,513,764	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,249,834	R1159L	probably benign	Het
Rev3l	T	A	10: 39,824,150	S1548T	probably benign	Het
Rora	A	G	9: 69,378,802	I471M	probably benign	Het
Scube1	C	A	15: 83,651,676	V266L	probably benign	Het
Sema6a	C	T	18: 47,283,403	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,355,006	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,715,650	H204R	probably benign	Het
Syt17	T	C	7: 118,408,133	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,162,208	T578A	possibly damaging	Het
Trpm1	A	G	7: 64,268,702	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,848,260	H174L	probably damaging	Het
Vrk2	A	T	11: 26,486,975	S281T	probably benign	Het
Wdr48	A	G	9: 119,907,777	D22G	probably damaging	Het
Zfp408	C	A	2: 91,649,291	V61L	probably benign	Het
Zfp652	G	A	11: 95,749,863	A205T	probably benign	Het

Other mutations in 4930562C15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00936:4930562C15Rik	APN	16	4864646	missense	probably benign	0.31
IGL01610:4930562C15Rik	APN	16	4851565	splice site	probably benign
IGL02869:4930562C15Rik	APN	16	4867459	missense	possibly damaging	0.68
IGL03242:4930562C15Rik	APN	16	4849325	missense	unknown
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0063:4930562C15Rik	UTSW	16	4861048	nonsense	probably null
R0083:4930562C15Rik	UTSW	16	4849542	missense	unknown
R0565:4930562C15Rik	UTSW	16	4864336	missense	probably benign	0.22
R0630:4930562C15Rik	UTSW	16	4850939	missense	possibly damaging	0.90
R0734:4930562C15Rik	UTSW	16	4850334	missense	probably benign	0.01
R1200:4930562C15Rik	UTSW	16	4849672	missense	unknown
R1738:4930562C15Rik	UTSW	16	4864611	missense	probably damaging	1.00
R1775:4930562C15Rik	UTSW	16	4851558	unclassified	probably null
R1945:4930562C15Rik	UTSW	16	4835685	missense	unknown
R2132:4930562C15Rik	UTSW	16	4835971	missense	unknown
R2445:4930562C15Rik	UTSW	16	4864397	splice site	probably null
R2696:4930562C15Rik	UTSW	16	4850364	missense	probably benign	0.04
R4729:4930562C15Rik	UTSW	16	4849323	missense	unknown
R4779:4930562C15Rik	UTSW	16	4849749	missense	unknown
R4806:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4808:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4876:4930562C15Rik	UTSW	16	4849672	missense	unknown
R4931:4930562C15Rik	UTSW	16	4861046	missense	possibly damaging	0.47
R4956:4930562C15Rik	UTSW	16	4854952	missense	probably damaging	0.99
R5085:4930562C15Rik	UTSW	16	4835973	nonsense	probably null
R5203:4930562C15Rik	UTSW	16	4835598	missense	unknown
R5229:4930562C15Rik	UTSW	16	4850051	missense	possibly damaging	0.73
R5461:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5462:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5464:4930562C15Rik	UTSW	16	4864363	missense	probably damaging	1.00
R5595:4930562C15Rik	UTSW	16	4864279	missense	probably benign	0.01
R6405:4930562C15Rik	UTSW	16	4851878	missense	probably damaging	0.97
R6859:4930562C15Rik	UTSW	16	4851935	missense	possibly damaging	0.86
R7124:4930562C15Rik	UTSW	16	4864332	missense	probably benign	0.02
R7139:4930562C15Rik	UTSW	16	4850184	missense	probably benign	0.00
R7182:4930562C15Rik	UTSW	16	4849714	missense	unknown
R7219:4930562C15Rik	UTSW	16	4849644	missense	unknown
R7366:4930562C15Rik	UTSW	16	4835769	missense	unknown
R7592:4930562C15Rik	UTSW	16	4849274	missense	unknown
R7759:4930562C15Rik	UTSW	16	4864650	missense	probably benign	0.01
R7789:4930562C15Rik	UTSW	16	4864311	missense	probably benign	0.01
R7873:4930562C15Rik	UTSW	16	4866227	missense	probably benign
R7956:4930562C15Rik	UTSW	16	4866227	missense	probably benign
X0028:4930562C15Rik	UTSW	16	4867367	missense	possibly damaging	0.83
Z1176:4930562C15Rik	UTSW	16	4866248	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TCGTGAACTTCAAGGCCCTTC -3'
(R):5'- GGCAAGGTCTAGAGTGCTTC -3'

Sequencing Primer
(F):5'- AGGGCATCCTGGAGCACATC -3'
(R):5'- CAAGGTCTAGAGTGCTTCTCCAG -3'

Posted On

2017-07-14