Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:E430018J23Rik'

503843

Institutional Source

Beutler Lab

Gene Symbol

E430018J23Rik

Ensembl Gene

ENSMUSG00000078580

Gene Name

RIKEN cDNA E430018J23 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127389673-127393629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 127393409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 10 (A10T)

Ref Sequence

ENSEMBL: ENSMUSP00000101910 (fasta)

Gene Model

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

AlphaFold

E9PZQ8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074249
AA Change: A10T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: A10T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000106303
AA Change: A10T

PolyPhen 2 Score 0.848 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580
AA Change: A10T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122370

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165495
AA Change: A10T

PolyPhen 2 Score 0.565 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: A10T

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: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	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
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
R4933:E430018J23Rik	UTSW	7	127393349	missense	probably damaging	1.00
R5292:E430018J23Rik	UTSW	7	127392487	missense	possibly damaging	0.48
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'- ATGACCCACAGTGTCAAGGG -3'
(R):5'- GCATCTGTACCTGCTTCTAGGAATC -3'

Sequencing Primer
(F):5'- ACAGTGTCAAGGGCTACGC -3'
(R):5'- GCTTCTAGGAATCTTCAATTTTCACC -3'

Posted On

2018-02-27