Mutagenetix > Incidental Mutation

Incidental Mutation 'R5461:4930562C15Rik'

433047

Institutional Source

Beutler Lab

Gene Symbol

4930562C15Rik

Ensembl Gene

ENSMUSG00000022518

Gene Name

RIKEN cDNA 4930562C15 gene

Synonyms

MMRRC Submission

043023-MU

Accession Numbers

Ncbi RefSeq: NM_030192.1; MGI:1926059

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5461 (G1)

Quality Score

189

Status

Validated

Chromosome

Chromosomal Location

4835416-4867686 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 4864363 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Glutamic Acid at position 180 (G180E)

Ref Sequence

ENSEMBL: ENSMUSP00000127814 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100211] [ENSMUST00000171105] [ENSMUST00000176394] [ENSMUST00000176982]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000100211
AA Change: G1019E

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

SMART Domains

Protein: ENSMUSP00000097784
Gene: ENSMUSG00000022518
AA Change: G1019E

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

probably damaging
Transcript: ENSMUST00000171105
AA Change: G180E

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

SMART Domains

Protein: ENSMUSP00000127814
Gene: ENSMUSG00000022518
AA Change: G180E

Domain	Start	End	E-Value	Type
Pfam:DUF4795	37	125	1.1e-20	PFAM
low complexity region	256	270	N/A	INTRINSIC
low complexity region	272	286	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000175762
AA Change: G83E

Predicted Effect

probably benign
Transcript: ENSMUST00000176394

Predicted Effect

probably benign
Transcript: ENSMUST00000176982

Predicted Effect

probably benign
Transcript: ENSMUST00000180566

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180939

Meta Mutation Damage Score

0.1994

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	A	T	5: 109,736,777	I405K	possibly damaging	Het
Adgrg6	A	T	10: 14,420,504	W1079R	probably damaging	Het
Arsa	T	C	15: 89,473,275	H495R	probably benign	Het
Bptf	T	C	11: 107,061,764	T2088A	probably damaging	Het
Brsk2	T	C	7: 141,987,906	L152P	probably damaging	Het
C8a	T	C	4: 104,815,845		probably benign	Het
Ccdc177	G	A	12: 80,758,042	A486V	unknown	Het
Cpa2	A	G	6: 30,544,181	T38A	probably benign	Het
Crim1	T	G	17: 78,237,807	C133G	probably damaging	Het
Dnah2	C	T	11: 69,473,351		probably null	Het
Ep400	G	A	5: 110,676,684	Q2392*	probably null	Het
Exoc2	C	T	13: 30,925,755	S210N	possibly damaging	Het
Gm7003	A	G	12: 113,803,227		probably benign	Het
Hydin	A	G	8: 110,519,231	K2192R	probably damaging	Het
Ica1l	T	C	1: 60,013,851	D176G	probably damaging	Het
Ints10	G	A	8: 68,794,041	E8K	possibly damaging	Het
Itgb8	T	C	12: 119,168,005	E635G	probably benign	Het
Kmt2d	G	A	15: 98,852,109		probably benign	Het
Kng1	A	G	16: 23,079,137	H429R	probably benign	Het
Mcm3	T	C	1: 20,814,437	I281V	probably benign	Het
Msi1	T	C	5: 115,441,391	S200P	possibly damaging	Het
Nat3	T	C	8: 67,547,862	L131P	probably damaging	Het
Ncor2	T	C	5: 125,027,113	E1752G	probably damaging	Het
Nnt	C	T	13: 119,368,595	A414T	possibly damaging	Het
Nrp2	C	T	1: 62,747,211	Q292*	probably null	Het
Olfr552	G	A	7: 102,604,408	G18D	probably damaging	Het
Olfr615	T	A	7: 103,560,573	L32Q	probably damaging	Het
Otop1	A	T	5: 38,299,715	I273F	probably damaging	Het
Phactr3	T	A	2: 178,278,901	N177K	probably benign	Het
Pik3c2b	C	T	1: 133,099,702	T1313I	possibly damaging	Het
Pikfyve	C	A	1: 65,235,033	D677E	probably damaging	Het
Poc1a	T	C	9: 106,288,010	F157L	probably damaging	Het
Prodh2	G	T	7: 30,494,523	R185L	possibly damaging	Het
Rcc1	T	C	4: 132,334,186	I350M	probably benign	Het
Rhd	G	A	4: 134,884,617	A249T	probably damaging	Het
Rtf2	A	G	2: 172,445,332	Y57C	probably damaging	Het
Shmt1	A	G	11: 60,794,899	S284P	possibly damaging	Het
Shpk	T	C	11: 73,199,535	V6A	probably benign	Het
Slc4a5	T	C	6: 83,285,854	V661A	probably benign	Het
Spesp1	A	T	9: 62,272,732	L298Q	probably damaging	Het
Tas1r2	C	A	4: 139,660,009	Q231K	probably benign	Het
Tcp11l1	T	C	2: 104,688,511	Y280C	probably benign	Het
Tnip1	T	C	11: 54,910,799		probably benign	Het
Topbp1	T	A	9: 103,315,196	D295E	probably benign	Het
Unc79	C	T	12: 103,112,138	L1521F	probably damaging	Het
Usp10	T	C	8: 119,956,667	I759T	probably benign	Het
Vmn1r30	A	T	6: 58,435,774	C24*	probably null	Het
Vmn2r104	T	A	17: 20,030,081	I643F	probably damaging	Het
Wwc1	T	A	11: 35,867,372	T716S	probably damaging	Het
Zfp949	C	T	9: 88,569,484	T369M	probably benign	Het
Zhx3	A	G	2: 160,780,018	V743A	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	splice site	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
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
R6054:4930562C15Rik	UTSW	16	4835865	missense	unknown
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
R7916:4930562C15Rik	UTSW	16	4864590	nonsense	probably null
R8093:4930562C15Rik	UTSW	16	4851504	missense	possibly damaging	0.86
R8169:4930562C15Rik	UTSW	16	4866218	missense	probably benign	0.00
R8278:4930562C15Rik	UTSW	16	4850176	missense	probably benign	0.33
R8372:4930562C15Rik	UTSW	16	4864288	missense	probably damaging	0.99
R8493:4930562C15Rik	UTSW	16	4835589	start codon destroyed	unknown
R8549:4930562C15Rik	UTSW	16	4863197	critical splice donor site	probably null
R8947:4930562C15Rik	UTSW	16	4847428	missense	unknown
R9137:4930562C15Rik	UTSW	16	4867448	missense	probably benign
R9339:4930562C15Rik	UTSW	16	4849657	missense	unknown
R9422:4930562C15Rik	UTSW	16	4849289	missense
R9561:4930562C15Rik	UTSW	16	4863116	missense	possibly damaging	0.52
R9618:4930562C15Rik	UTSW	16	4849554	missense	unknown
R9747:4930562C15Rik	UTSW	16	4850847	missense	probably damaging	1.00
R9773:4930562C15Rik	UTSW	16	4850193	missense	possibly damaging	0.86
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'- TACTATCCAGAGCCCTGTGC -3'
(R):5'- AAATCAGGGTCTCCATTGCC -3'

Sequencing Primer
(F):5'- CAGGTCTCCTCGGTGGTAGAG -3'
(R):5'- AGGGTCTCCATTGCCATCCC -3'

Posted On

2016-10-06