Mutagenetix > Incidental Mutation

Incidental Mutation 'R0598:4933427I04Rik'

55162

Institutional Source

Beutler Lab

Gene Symbol

4933427I04Rik

Ensembl Gene

ENSMUSG00000073761

Gene Name

Riken cDNA 4933427I04 gene

Synonyms

MMRRC Submission

038787-MU

Accession Numbers

Essential gene?

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

Stock #

R0598 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123753472-123756958 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 123754681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 198 (E198D)

Ref Sequence

ENSEMBL: ENSMUSP00000095506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097896]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097896
AA Change: E198D

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137546

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,087,980 (GRCm39)	I1049N	probably damaging	Het
Acly	A	T	11: 100,369,216 (GRCm39)	N1014K	probably damaging	Het
Aoc1l1	A	G	6: 48,952,471 (GRCm39)	E132G	probably benign	Het
Aph1c	A	T	9: 66,740,601 (GRCm39)	W42R	probably damaging	Het
Bptf	G	T	11: 106,963,791 (GRCm39)	T1738K	probably damaging	Het
Cdhr2	A	T	13: 54,874,552 (GRCm39)	I875F	probably damaging	Het
Cpt2	G	T	4: 107,764,135 (GRCm39)	T543N	probably damaging	Het
Cstdc7	T	A	18: 42,306,436 (GRCm39)	M1K	probably null	Het
Dnah9	T	C	11: 66,009,703 (GRCm39)	E728G	probably benign	Het
Itgbl1	A	G	14: 124,094,848 (GRCm39)	H167R	possibly damaging	Het
Kctd1	A	G	18: 15,140,822 (GRCm39)	V40A	probably damaging	Het
L3mbtl4	T	G	17: 68,766,768 (GRCm39)	D158E	probably benign	Het
Lrp8	A	C	4: 107,714,434 (GRCm39)	I603L	possibly damaging	Het
Lypd8l	G	A	11: 58,499,230 (GRCm39)	S196L	probably benign	Het
Mrps9	C	T	1: 42,944,577 (GRCm39)	T365I	probably damaging	Het
Or1a1	A	T	11: 74,086,658 (GRCm39)	T110S	possibly damaging	Het
Or1e1	G	T	11: 73,244,729 (GRCm39)	R50L	probably benign	Het
Or2y1d	A	G	11: 49,322,230 (GRCm39)	D309G	probably benign	Het
Padi1	C	A	4: 140,542,098 (GRCm39)	R608L	possibly damaging	Het
Pkhd1	A	T	1: 20,271,114 (GRCm39)	F3146L	probably damaging	Het
Rnf145	T	C	11: 44,439,770 (GRCm39)	S189P	probably damaging	Het
Sez6	G	T	11: 77,868,647 (GRCm39)	D974Y	possibly damaging	Het
St3gal3	A	T	4: 117,964,829 (GRCm39)	L11Q	probably benign	Het
Syt14	T	C	1: 192,579,622 (GRCm39)	E554G	probably damaging	Het
Tectb	G	T	19: 55,178,018 (GRCm39)	E170*	probably null	Het
Themis2	A	T	4: 132,516,994 (GRCm39)	C169S	possibly damaging	Het
Tmem88b	A	T	4: 155,868,824 (GRCm39)	D141E	probably benign	Het
Uaca	T	A	9: 60,778,203 (GRCm39)	Y685*	probably null	Het
Vsnl1	T	C	12: 11,436,860 (GRCm39)	S40G	probably benign	Het
Vxn	T	G	1: 9,690,067 (GRCm39)	I98S	probably benign	Het
Wdr64	A	T	1: 175,633,465 (GRCm39)	Q905H	probably damaging	Het

Other mutations in 4933427I04Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00979:4933427I04Rik	APN	4	123,754,338 (GRCm39)	missense	probably damaging	0.97
IGL01518:4933427I04Rik	APN	4	123,754,494 (GRCm39)	missense	probably benign	0.00
IGL02246:4933427I04Rik	APN	4	123,754,655 (GRCm39)	missense	probably damaging	0.99
PIT4494001:4933427I04Rik	UTSW	4	123,754,698 (GRCm39)	missense	probably benign
R0090:4933427I04Rik	UTSW	4	123,754,775 (GRCm39)	missense	possibly damaging	0.66
R0299:4933427I04Rik	UTSW	4	123,754,615 (GRCm39)	missense	possibly damaging	0.66
R1775:4933427I04Rik	UTSW	4	123,754,286 (GRCm39)	missense	possibly damaging	0.66
R2082:4933427I04Rik	UTSW	4	123,754,769 (GRCm39)	missense	probably benign	0.05
R4581:4933427I04Rik	UTSW	4	123,754,146 (GRCm39)	missense	possibly damaging	0.90
R4594:4933427I04Rik	UTSW	4	123,754,331 (GRCm39)	missense	possibly damaging	0.66
R4841:4933427I04Rik	UTSW	4	123,754,170 (GRCm39)	missense	probably benign	0.04
R6021:4933427I04Rik	UTSW	4	123,754,509 (GRCm39)	missense	possibly damaging	0.90
R6759:4933427I04Rik	UTSW	4	123,753,879 (GRCm39)	start gained	probably benign
R7660:4933427I04Rik	UTSW	4	123,754,512 (GRCm39)	missense	possibly damaging	0.66
R8553:4933427I04Rik	UTSW	4	123,754,327 (GRCm39)	missense	probably benign	0.03
R9333:4933427I04Rik	UTSW	4	123,754,416 (GRCm39)	missense	probably benign	0.00
R9399:4933427I04Rik	UTSW	4	123,754,413 (GRCm39)	nonsense	probably null
R9465:4933427I04Rik	UTSW	4	123,754,317 (GRCm39)	missense	possibly damaging	0.83
Z1176:4933427I04Rik	UTSW	4	123,754,668 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGACCATCGTTTGAAGTCAAGCCC -3'
(R):5'- AGAAGACTCACCAGTGTGATGTCCC -3'

Sequencing Primer
(F):5'- TTTGAAGTCAAGCCCCAGAC -3'
(R):5'- CAGTGTGATGTCCCAGGAAATTC -3'

Posted On

2013-07-11