Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02977:2810004N23Rik'

406444

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2810004N23Rik

Ensembl Gene

ENSMUSG00000031984

Gene Name

RIKEN cDNA 2810004N23 gene

Synonyms

GtAyu21-55, Ayu21-55, Gt(Ayu21)55Imeg

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.717) question?

Stock #

IGL02977

Quality Score

Status

Chromosome

Chromosomal Location

125566094-125589768 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 125587930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 57 (V57M)

Ref Sequence

ENSEMBL: ENSMUSP00000034465 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034465] [ENSMUST00000034466] [ENSMUST00000161986]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000034465
AA Change: V57M

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000034465
Gene: ENSMUSG00000031984
AA Change: V57M

Domain	Start	End	E-Value	Type
low complexity region	39	49	N/A	INTRINSIC
Pfam:DUF4602	119	243	1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000034466

SMART Domains

Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
SCOP:d1dbha1	27	146	6e-3	SMART
PlsC	155	284	8.3e-21	SMART
Blast:PlsC	308	336	1e-6	BLAST
low complexity region	638	652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161868

Predicted Effect

probably benign
Transcript: ENSMUST00000161986

SMART Domains

Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
PlsC	145	274	8.3e-21	SMART
Blast:PlsC	298	326	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212808

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	A	7: 124,930,874 (GRCm39)		noncoding transcript	Het
Bmp5	A	G	9: 75,801,081 (GRCm39)	T404A	probably damaging	Het
Cep192	T	C	18: 67,985,976 (GRCm39)	V1660A	probably damaging	Het
Csmd2	C	A	4: 128,387,069 (GRCm39)	Y2121*	probably null	Het
Daam1	G	A	12: 71,990,946 (GRCm39)	A187T	unknown	Het
Dnaja4	T	C	9: 54,621,794 (GRCm39)	L343P	possibly damaging	Het
Dym	T	C	18: 75,196,246 (GRCm39)		probably null	Het
F5	A	T	1: 164,021,590 (GRCm39)	D1355V	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Gcnt1	A	T	19: 17,306,738 (GRCm39)	I329N	probably damaging	Het
Gm10110	T	C	14: 90,134,768 (GRCm39)		noncoding transcript	Het
Hdgfl2	A	G	17: 56,406,319 (GRCm39)	N569S	possibly damaging	Het
Hivep1	T	C	13: 42,309,412 (GRCm39)	S551P	possibly damaging	Het
Hpse2	G	A	19: 42,777,561 (GRCm39)		probably benign	Het
Hspe1	T	C	1: 55,130,232 (GRCm39)	Y88H	probably benign	Het
Ifi44	A	T	3: 151,445,016 (GRCm39)	M312K	probably benign	Het
Lrp1b	T	G	2: 40,620,747 (GRCm39)	D3577A	probably damaging	Het
Mapk13	G	T	17: 28,995,322 (GRCm39)	G181V	probably damaging	Het
Oprl1	G	T	2: 181,360,304 (GRCm39)	C115F	probably damaging	Het
Or4d1	A	G	11: 87,804,956 (GRCm39)	S259P	possibly damaging	Het
Or5d37	T	C	2: 87,923,915 (GRCm39)	I122V	probably benign	Het
Psg22	A	G	7: 18,453,524 (GRCm39)	D112G	probably benign	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Simc1	T	C	13: 54,674,120 (GRCm39)	S823P	probably benign	Het
Slc9b1	T	C	3: 135,103,484 (GRCm39)	L538P	probably damaging	Het
Smad2	T	A	18: 76,422,235 (GRCm39)	Y216N	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Tonsl	T	A	15: 76,517,073 (GRCm39)	Q882L	probably benign	Het
Trav13-2	C	T	14: 53,872,764 (GRCm39)	T80I	probably damaging	Het
Uaca	C	T	9: 60,773,662 (GRCm39)	P388S	probably benign	Het
Vmn2r116	A	G	17: 23,607,748 (GRCm39)	R439G	possibly damaging	Het
Vmn2r18	C	A	5: 151,510,149 (GRCm39)	A75S	probably damaging	Het

Other mutations in 2810004N23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03390:2810004N23Rik	APN	8	125,566,564 (GRCm39)	utr 3 prime	probably benign
FR4342:2810004N23Rik	UTSW	8	125,566,572 (GRCm39)	frame shift	probably null
R0519:2810004N23Rik	UTSW	8	125,566,668 (GRCm39)	missense	possibly damaging	0.90
R1302:2810004N23Rik	UTSW	8	125,566,607 (GRCm39)	missense	probably damaging	1.00
R1349:2810004N23Rik	UTSW	8	125,587,992 (GRCm39)	missense	possibly damaging	0.93
R1640:2810004N23Rik	UTSW	8	125,566,584 (GRCm39)	missense	probably damaging	1.00
R6614:2810004N23Rik	UTSW	8	125,587,986 (GRCm39)	splice site	probably null
R7150:2810004N23Rik	UTSW	8	125,589,653 (GRCm39)	missense	possibly damaging	0.81
R7806:2810004N23Rik	UTSW	8	125,569,143 (GRCm39)	missense	probably benign
R9450:2810004N23Rik	UTSW	8	125,567,215 (GRCm39)	missense	probably damaging	1.00
RF061:2810004N23Rik	UTSW	8	125,566,570 (GRCm39)	frame shift	probably null

Posted On

2016-08-02