Mutagenetix > Incidental Mutation

Incidental Mutation 'R0552:E430018J23Rik'

45238

Institutional Source

Beutler Lab

Gene Symbol

E430018J23Rik

Ensembl Gene

ENSMUSG00000078580

Gene Name

RIKEN cDNA E430018J23 gene

Synonyms

MMRRC Submission

038744-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R0552 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

127389673-127393629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 127392332 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 161 (I161N)

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: S149T

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: S149T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106303

SMART Domains

Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165495
AA Change: I161N

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: I161N

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam9	A	T	8: 24,963,010	N760K	probably benign	Het
Akr1b10	A	G	6: 34,392,985	T216A	possibly damaging	Het
Arsj	A	G	3: 126,439,344	R580G	probably benign	Het
C9	A	T	15: 6,445,437	I26F	probably damaging	Het
Cacna2d1	A	G	5: 16,328,043	E578G	probably damaging	Het
Clca4b	C	T	3: 144,916,775	V510I	probably benign	Het
Dab2	C	T	15: 6,435,414	T561I	possibly damaging	Het
Gm4737	T	A	16: 46,154,592	T141S	probably benign	Het
Golga5	A	T	12: 102,484,493	E12D	possibly damaging	Het
Hsd17b12	A	T	2: 94,043,935	F208I	probably damaging	Het
Inf2	A	G	12: 112,612,574		probably benign	Het
Kcnh3	T	A	15: 99,229,456	W378R	probably damaging	Het
Klhdc8b	G	C	9: 108,449,223	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,670,210	R5Q	probably benign	Het
Lcn3	T	C	2: 25,766,409		probably null	Het
Mppe1	A	G	18: 67,237,348		probably null	Het
Muc20	G	A	16: 32,793,930	A359V	probably damaging	Het
Myh14	T	C	7: 44,613,681	D1765G	probably damaging	Het
Olfr1257	C	T	2: 89,880,891	Q22*	probably null	Het
Olfr418	T	C	1: 173,270,805	M210T	probably benign	Het
Olfr482	A	G	7: 108,094,778	M264T	probably benign	Het
Pbrm1	T	A	14: 31,035,959	L182Q	probably damaging	Het
Pde8a	A	G	7: 81,317,347	N412S	probably benign	Het
Phyh	A	G	2: 4,936,101	T271A	probably damaging	Het
Pkhd1l1	T	C	15: 44,489,546	S258P	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Pyroxd1	A	G	6: 142,345,737	E2G	probably benign	Het
Ralgapa1	G	T	12: 55,676,765	Q2115K	probably benign	Het
Rufy3	A	G	5: 88,584,270	E44G	possibly damaging	Het
Slit2	A	T	5: 48,238,379	N712I	probably damaging	Het
Sptbn1	A	G	11: 30,145,985	M303T	possibly damaging	Het
Ssbp4	A	G	8: 70,599,859	I154T	probably benign	Het
Syne2	A	G	12: 75,931,004	K1409E	probably benign	Het
Tfap2b	T	C	1: 19,234,225	Y420H	probably damaging	Het
Tlr5	A	G	1: 182,975,696		probably null	Het
Tmprss15	C	T	16: 79,024,749		probably null	Het
Tns1	A	T	1: 73,920,563	I418N	probably damaging	Het
Txlna	A	T	4: 129,629,191	V452D	probably benign	Het
Wdr17	C	T	8: 54,693,096	A90T	possibly damaging	Het
Zfp563	A	T	17: 33,104,685	S85C	possibly 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
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
R4933:E430018J23Rik	UTSW	7	127393349	missense	probably damaging	1.00
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
X0022:E430018J23Rik	UTSW	7	127393270	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTGGGTAAAACTCTTCCCACAGTC -3'
(R):5'- GAGTCTGAGCTTTGTCATGGTCTCC -3'

Sequencing Primer
(F):5'- ACAGTCAGGACACTGATGC -3'
(R):5'- TGTCATGGTCTCCCAGCAG -3'

Posted On

2013-06-11