Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:E430018J23Rik'

527024

Institutional Source

Beutler Lab

Gene Symbol

E430018J23Rik

Ensembl Gene

ENSMUSG00000078580

Gene Name

RIKEN cDNA E430018J23 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6667 (G1)

Quality Score

152.008

Status

Validated

Chromosome

Chromosomal Location

127389673-127393629 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 127393423 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 5 (M5T)

Ref Sequence

ENSEMBL: ENSMUSP00000073867 (fasta)

Gene Model

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

AlphaFold

E9PZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000074249
AA Change: M5T

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000073867
Gene: ENSMUSG00000078580
AA Change: M5T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000106303
AA Change: M5T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101910
Gene: ENSMUSG00000078580
AA Change: M5T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122370

Predicted Effect

probably benign
Transcript: ENSMUST00000165495
AA Change: M5T

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126288
Gene: ENSMUSG00000078580
AA Change: M5T

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: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Tti1	A	T	2: 158,008,427	C297*	probably null	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	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
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
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'- GCATGACCCACAGTGTCAAG -3'
(R):5'- ACCACGTCTTGCATCTGTAC -3'

Sequencing Primer
(F):5'- CAGGAAGGTTCTCACCCAGAG -3'
(R):5'- GCATCTGTACCTGCTTCTAGGAATC -3'

Posted On

2018-07-23