Mutagenetix > Incidental Mutation

Incidental Mutation 'R5282:4933405O20Rik'

402816

Institutional Source

Beutler Lab

Gene Symbol

4933405O20Rik

Ensembl Gene

ENSMUSG00000084234

Gene Name

RIKEN cDNA 4933405O20 gene

Synonyms

MMRRC Submission

042867-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.160) question?

Stock #

R5282 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

50248938-50250276 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50249220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 85 (E85K)

Ref Sequence

ENSEMBL: ENSMUSP00000138215 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081872] [ENSMUST00000107603] [ENSMUST00000119710]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081872

SMART Domains

Protein: ENSMUSP00000080550
Gene: ENSMUSG00000055409

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	29	213	8.5e-72	SMART
LamG	81	208	1.77e-14	SMART
coiled coil region	240	266	N/A	INTRINSIC
VWC	273	331	1.45e-6	SMART
VWC	335	389	1.34e0	SMART
EGF	394	433	1.06e0	SMART
EGF_CA	434	475	7.93e-9	SMART
EGF	479	516	1.1e-2	SMART
EGF	518	547	8.32e-3	SMART
EGF_CA	549	595	1.08e-10	SMART
EGF_like	596	635	1.84e-4	SMART
VWC	634	686	1.42e0	SMART
VWC	694	749	1.83e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107603

SMART Domains

Protein: ENSMUSP00000103229
Gene: ENSMUSG00000055409

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
TSPN	29	213	8.5e-72	SMART
LamG	81	208	1.77e-14	SMART
coiled coil region	240	266	N/A	INTRINSIC
VWC	273	331	1.45e-6	SMART
VWC	335	389	1.34e0	SMART
EGF	394	433	1.06e0	SMART
EGF_CA	434	475	7.93e-9	SMART
EGF	479	516	1.1e-2	SMART
EGF	518	547	8.32e-3	SMART
EGF_like	549	588	1.84e-4	SMART
VWC	587	639	1.42e0	SMART
VWC	647	702	1.83e-12	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119710
AA Change: E85K

PolyPhen 2 Score 0.742 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000138215
Gene: ENSMUSG00000084234
AA Change: E85K

Domain	Start	End	E-Value	Type
Iso_dh	53	376	8.22e-118	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700102P08Rik	T	A	9: 108,270,439 (GRCm39)	M1K	probably null	Het
2810021J22Rik	T	C	11: 58,771,166 (GRCm39)	L216S	possibly damaging	Het
Agrn	A	G	4: 156,257,492 (GRCm39)	F1153L	probably damaging	Het
Cbx8	A	G	11: 118,929,742 (GRCm39)	S284P	probably damaging	Het
Cep128	A	G	12: 91,305,893 (GRCm39)	L170P	probably damaging	Het
Cyp4f14	T	A	17: 33,126,959 (GRCm39)	T324S	probably damaging	Het
Daw1	G	T	1: 83,170,419 (GRCm39)	V244L	probably benign	Het
Eef2kmt	A	G	16: 5,063,222 (GRCm39)	V306A	probably benign	Het
Enah	A	T	1: 181,763,293 (GRCm39)		probably null	Het
Fam171b	T	C	2: 83,683,949 (GRCm39)		probably null	Het
Fsip2	C	T	2: 82,808,925 (GRCm39)	T1748I	possibly damaging	Het
Gabrg2	C	T	11: 41,862,559 (GRCm39)	G175D	probably damaging	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hmcn1	G	T	1: 150,458,047 (GRCm39)	N33K	probably damaging	Het
Incenp	T	A	19: 9,855,770 (GRCm39)	E514V	unknown	Het
Kank3	T	C	17: 34,036,917 (GRCm39)	S74P	probably benign	Het
Lrriq1	G	T	10: 103,051,206 (GRCm39)	N515K	probably benign	Het
Mfsd13b	G	A	7: 120,591,056 (GRCm39)	D266N	probably damaging	Het
Neto1	T	C	18: 86,422,998 (GRCm39)	Y152H	probably damaging	Het
Nub1	C	A	5: 24,900,533 (GRCm39)	F145L	probably benign	Het
Nufip1	T	C	14: 76,351,715 (GRCm39)		probably null	Het
Pard6g	T	A	18: 80,123,116 (GRCm39)	V50E	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Rapgef5	A	C	12: 117,703,379 (GRCm39)	N431T	probably damaging	Het
Rassf9	A	T	10: 102,381,205 (GRCm39)	T196S	probably damaging	Het
Rrp12	T	C	19: 41,865,029 (GRCm39)	Y764C	probably benign	Het
Slfn8	T	C	11: 82,908,550 (GRCm39)		probably null	Het
Smox	T	A	2: 131,363,026 (GRCm39)	V265D	probably damaging	Het
Sult1b1	T	C	5: 87,678,510 (GRCm39)	I105V	probably benign	Het
Sycp2	T	C	2: 178,045,554 (GRCm39)	D22G	probably damaging	Het
Tbck	G	A	3: 132,456,977 (GRCm39)	M630I	possibly damaging	Het
Tenm4	G	C	7: 96,486,538 (GRCm39)	G965R	possibly damaging	Het
Trappc10	G	A	10: 78,023,694 (GRCm39)	T1258I	probably damaging	Het
Tssk1	G	A	16: 17,713,123 (GRCm39)	G303S	probably benign	Het
Tstd2	T	C	4: 46,120,461 (GRCm39)	Y313C	probably damaging	Het
Usp42	G	A	5: 143,707,401 (GRCm39)	T260M	probably damaging	Het
Wdr43	T	A	17: 71,955,772 (GRCm39)	V479E	probably damaging	Het
Xpo7	G	A	14: 70,921,171 (GRCm39)	T599I	probably damaging	Het
Zfp553	A	G	7: 126,836,013 (GRCm39)	K523E	probably benign	Het

Other mutations in 4933405O20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:4933405O20Rik	APN	7	50,249,431 (GRCm39)	missense	probably damaging	0.97
IGL02941:4933405O20Rik	APN	7	50,249,284 (GRCm39)	missense	probably damaging	1.00
IGL03225:4933405O20Rik	APN	7	50,249,668 (GRCm39)	missense	probably benign	0.02
R5977:4933405O20Rik	UTSW	7	50,249,838 (GRCm39)	missense	probably damaging	1.00
R7023:4933405O20Rik	UTSW	7	50,250,001 (GRCm39)	missense	probably damaging	1.00
R7407:4933405O20Rik	UTSW	7	50,249,626 (GRCm39)	missense	probably damaging	1.00
R7820:4933405O20Rik	UTSW	7	50,249,371 (GRCm39)	missense	probably benign
R8555:4933405O20Rik	UTSW	7	50,250,010 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGGCCATTCTAGGGAGGTAG -3'
(R):5'- CTTTGTGTCGGGTCATAACACC -3'

Sequencing Primer
(F):5'- AGTGTGTGAGCTTGTGACCTCC -3'
(R):5'- TCTTGAAATGGACGACACTGGC -3'

Posted On

2016-07-22