Mutagenetix > Incidental Mutation

Incidental Mutation 'R4933:E430018J23Rik'

380723

Institutional Source

Beutler Lab

Gene Symbol

E430018J23Rik

Ensembl Gene

ENSMUSG00000078580

Gene Name

RIKEN cDNA E430018J23 gene

Synonyms

MMRRC Submission

042533-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4933 (G1)

Quality Score

192

Status

Validated

Chromosome

Chromosomal Location

127389673-127393629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127393349 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 30 (Y30H)

Ref Sequence

ENSEMBL: ENSMUSP00000126288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074249] [ENSMUST00000106303] [ENSMUST00000165495]

AlphaFold

E9PZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000074249
AA Change: Y30H

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: Y30H

Domain	Start	End	E-Value	Type
KRAB	22	79	4.43e-7	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106303
AA Change: Y30H

PolyPhen 2 Score 0.486 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580
AA Change: Y30H

Domain	Start	End	E-Value	Type
KRAB	22	81	9.25e-28	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122370

Predicted Effect

probably damaging
Transcript: ENSMUST00000165495
AA Change: Y30H

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

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: Y30H

Domain	Start	End	E-Value	Type
KRAB	22	82	4.09e-29	SMART
ZnF_C2H2	168	190	2.2e-2	SMART
ZnF_C2H2	196	218	4.79e-3	SMART
ZnF_C2H2	224	246	4.3e-5	SMART
ZnF_C2H2	252	274	7.9e-4	SMART
ZnF_C2H2	280	302	9.58e-3	SMART
ZnF_C2H2	308	331	2.36e-2	SMART
ZnF_C2H2	337	359	2.57e-3	SMART
ZnF_C2H2	365	387	1.69e-3	SMART
ZnF_C2H2	393	415	2.2e-2	SMART

Meta Mutation Damage Score

0.1788

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Abca2	T	C	2: 25,444,827	V1937A	probably benign	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in E430018J23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01716:E430018J23Rik	APN	7	127392036	missense	possibly damaging	0.92
IGL01782:E430018J23Rik	APN	7	127393304	missense	probably benign	0.02
IGL02174:E430018J23Rik	APN	7	127392353	missense	possibly damaging	0.54
IGL02882:E430018J23Rik	APN	7	127392252	missense	probably damaging	1.00
IGL03152:E430018J23Rik	APN	7	127392297	missense	probably damaging	1.00
R0552:E430018J23Rik	UTSW	7	127392332	missense	possibly damaging	0.92
R1828:E430018J23Rik	UTSW	7	127391909	missense	probably damaging	1.00
R1843:E430018J23Rik	UTSW	7	127391488	missense	probably benign	0.32
R1866:E430018J23Rik	UTSW	7	127393331	missense	probably damaging	1.00
R3429:E430018J23Rik	UTSW	7	127391742	missense	possibly damaging	0.79
R4433:E430018J23Rik	UTSW	7	127393002	missense	possibly damaging	0.75
R5292:E430018J23Rik	UTSW	7	127392487	missense	possibly damaging	0.48
R6218:E430018J23Rik	UTSW	7	127393409	missense	possibly damaging	0.85
R6667:E430018J23Rik	UTSW	7	127393423	missense	probably benign	0.35
R6712:E430018J23Rik	UTSW	7	127392310	missense	probably damaging	1.00
R7108:E430018J23Rik	UTSW	7	127391523	missense	probably benign	0.05
R7214:E430018J23Rik	UTSW	7	127391523	missense	probably benign	0.05
R7215:E430018J23Rik	UTSW	7	127391523	missense	probably benign	0.05
R7216:E430018J23Rik	UTSW	7	127391523	missense	probably benign	0.05
R7313:E430018J23Rik	UTSW	7	127391684	missense	probably benign	0.23
R7396:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7397:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7398:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7478:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7479:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7480:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7481:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7512:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7652:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7716:E430018J23Rik	UTSW	7	127392087	missense	probably benign
R7820:E430018J23Rik	UTSW	7	127391436	missense	possibly damaging	0.84
R7923:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R7999:E430018J23Rik	UTSW	7	127392428	missense	probably damaging	0.98
R8097:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8098:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8100:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8182:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8184:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8185:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8309:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8389:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8433:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R8436:E430018J23Rik	UTSW	7	127393324	missense	probably null	0.88
R9196:E430018J23Rik	UTSW	7	127391589	missense	probably benign	0.02
R9779:E430018J23Rik	UTSW	7	127392297	missense	probably damaging	1.00
X0022:E430018J23Rik	UTSW	7	127393270	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTTACGACCACCCGTAC -3'
(R):5'- GTGCTCACGGACCTGATATATG -3'

Sequencing Primer
(F):5'- GTACCCAGGGAACTCCGATC -3'
(R):5'- GGACCTGATATATGTCCTTTCTCAG -3'

Posted On

2016-04-15