Mutagenetix > Incidental Mutation

Incidental Mutation 'R3900:4833439L19Rik'

308953

Institutional Source

Beutler Lab

Gene Symbol

4833439L19Rik

Ensembl Gene

ENSMUSG00000025871

Gene Name

RIKEN cDNA 4833439L19 gene

Synonyms

MMRRC Submission

041607-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R3900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54699031-54713195 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54700781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 212 (S212R)

Ref Sequence

ENSEMBL: ENSMUSP00000026989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026989] [ENSMUST00000118072] [ENSMUST00000121401] [ENSMUST00000143144] [ENSMUST00000153065]

AlphaFold

Q9DBN4

Predicted Effect

probably damaging
Transcript: ENSMUST00000026989
AA Change: S212R

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000026989
Gene: ENSMUSG00000025871
AA Change: S212R

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	15	303	5.8e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118072

SMART Domains

Protein: ENSMUSP00000112376
Gene: ENSMUSG00000043183

Domain	Start	End	E-Value	Type
low complexity region	11	34	N/A	INTRINSIC
low complexity region	167	179	N/A	INTRINSIC
low complexity region	378	392	N/A	INTRINSIC
low complexity region	425	443	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121401

SMART Domains

Protein: ENSMUSP00000113676
Gene: ENSMUSG00000043183

Domain	Start	End	E-Value	Type
low complexity region	11	34	N/A	INTRINSIC
low complexity region	173	189	N/A	INTRINSIC
low complexity region	222	234	N/A	INTRINSIC
low complexity region	249	263	N/A	INTRINSIC
internal_repeat_1	268	491	3.21e-17	PROSPERO
internal_repeat_1	579	832	3.21e-17	PROSPERO
low complexity region	852	868	N/A	INTRINSIC
low complexity region	1068	1080	N/A	INTRINSIC
low complexity region	1279	1293	N/A	INTRINSIC
low complexity region	1326	1344	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126506

Predicted Effect

probably benign
Transcript: ENSMUST00000143144

SMART Domains

Protein: ENSMUSP00000120615
Gene: ENSMUSG00000025871

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	14	133	9.7e-59	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143173

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150938

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153708

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153065
AA Change: S193R

PolyPhen 2 Score 0.888 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000119874
Gene: ENSMUSG00000025871
AA Change: S193R

Domain	Start	End	E-Value	Type
Pfam:P33MONOX	1	284	7e-147	PFAM

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI182371	T	C	2: 34,975,228 (GRCm39)	I334V	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Apc2	C	A	10: 80,131,806 (GRCm39)		probably null	Het
Bcl6	T	G	16: 23,796,304 (GRCm39)	E41A	possibly damaging	Het
Brpf1	A	G	6: 113,295,394 (GRCm39)	I674V	probably benign	Het
Cherp	A	G	8: 73,223,780 (GRCm39)	I201T	possibly damaging	Het
Cluh	A	G	11: 74,557,930 (GRCm39)	H1056R	probably benign	Het
Csgalnact2	A	T	6: 118,097,975 (GRCm39)	F122I	probably damaging	Het
Cubn	C	A	2: 13,291,791 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,985,634 (GRCm39)	I1481N	possibly damaging	Het
Eif2ak4	A	G	2: 118,305,510 (GRCm39)	Y1561C	probably damaging	Het
Elfn1	G	A	5: 139,957,719 (GRCm39)	R241H	probably damaging	Het
Eml5	G	A	12: 98,791,782 (GRCm39)	R1245C	probably damaging	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Gm10608	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	9: 118,989,784 (GRCm39)		probably null	Het
Gm6133	A	G	18: 78,393,365 (GRCm39)	N120D	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Igsf9	T	C	1: 172,317,125 (GRCm39)	L35P	probably damaging	Het
Khdc3	T	C	9: 73,011,628 (GRCm39)		probably benign	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Mrgpra1	G	T	7: 46,985,275 (GRCm39)	R135S	possibly damaging	Het
Or4c11b	A	T	2: 88,625,273 (GRCm39)	L182F	possibly damaging	Het
Or8g2b	A	G	9: 39,750,698 (GRCm39)		probably null	Het
Otud3	T	C	4: 138,624,196 (GRCm39)	N282S	probably benign	Het
Prkar1a	A	G	11: 109,551,901 (GRCm39)	K130R	probably benign	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Rictor	T	G	15: 6,818,954 (GRCm39)	D1392E	probably benign	Het
Setd2	C	T	9: 110,421,586 (GRCm39)	R273W	probably damaging	Het
Slc22a18	C	A	7: 143,033,507 (GRCm39)	A86E	probably damaging	Het
Slc24a1	A	T	9: 64,835,426 (GRCm39)	S900R	probably damaging	Het
Smarcc1	T	C	9: 109,947,586 (GRCm39)		probably benign	Het
Smoc1	T	C	12: 81,214,287 (GRCm39)	V234A	probably damaging	Het
Stard9	A	G	2: 120,544,030 (GRCm39)	T4443A	possibly damaging	Het
Timp2	C	T	11: 118,194,542 (GRCm39)	D139N	probably damaging	Het
Trim69	A	G	2: 122,009,322 (GRCm39)	T461A	probably benign	Het
Ubash3b	C	T	9: 40,942,860 (GRCm39)	D211N	probably benign	Het
Ubr4	T	C	4: 139,206,373 (GRCm39)		probably null	Het
Ubr5	T	C	15: 38,019,486 (GRCm39)	D752G	probably damaging	Het
Urb1	A	T	16: 90,580,264 (GRCm39)	I633N	possibly damaging	Het
Usp36	T	A	11: 118,170,650 (GRCm39)	D28V	possibly damaging	Het
Wdr6	G	A	9: 108,452,968 (GRCm39)	A305V	probably damaging	Het
Zfp248	T	C	6: 118,406,527 (GRCm39)	N253S	probably damaging	Het

Other mutations in 4833439L19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01747:4833439L19Rik	APN	13	54,704,338 (GRCm39)	critical splice donor site	probably null
IGL02819:4833439L19Rik	APN	13	54,712,033 (GRCm39)	intron	probably benign
IGL02935:4833439L19Rik	APN	13	54,709,675 (GRCm39)	missense	possibly damaging	0.90
R0508:4833439L19Rik	UTSW	13	54,700,863 (GRCm39)	splice site	probably null
R5091:4833439L19Rik	UTSW	13	54,701,057 (GRCm39)	missense	probably damaging	1.00
R5737:4833439L19Rik	UTSW	13	54,707,055 (GRCm39)	missense	probably damaging	0.99
R7283:4833439L19Rik	UTSW	13	54,700,504 (GRCm39)	missense	probably benign	0.29
R8783:4833439L19Rik	UTSW	13	54,700,520 (GRCm39)	missense	probably benign
R9729:4833439L19Rik	UTSW	13	54,700,519 (GRCm39)	missense	probably benign	0.31

Predicted Primers

PCR Primer
(F):5'- CACCTTTGTAAGCCTGAATAGC -3'
(R):5'- AGAAGTCCAGGTCAGTCTCC -3'

Sequencing Primer
(F):5'- TGTAAGCCTGAATAGCAAAACCTG -3'
(R):5'- CCAGTGCTGAGATGCTGCTG -3'

Posted On

2015-04-17