Mutagenetix > Incidental Mutation

Incidental Mutation 'R2369:1700066M21Rik'

246418

Institutional Source

Beutler Lab

Gene Symbol

1700066M21Rik

Ensembl Gene

ENSMUSG00000038323

Gene Name

RIKEN cDNA 1700066M21 gene

Synonyms

MMRRC Submission

040349-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R2369 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

57416779-57424582 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 57421950 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 109 (N109Y)

Ref Sequence

ENSEMBL: ENSMUSP00000040240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042734]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000042734
AA Change: N109Y

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000040240
Gene: ENSMUSG00000038323
AA Change: N109Y

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:UPF0565	52	341	2.8e-115	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185952

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187255

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230112D13Rik	A	T	14: 34,233,913 (GRCm39)	I126N	unknown	Het
A2ml1	C	T	6: 128,557,349 (GRCm39)	A115T	probably benign	Het
Ahcyl1	T	C	3: 107,577,556 (GRCm39)	D288G	probably damaging	Het
Atxn7l1	T	C	12: 33,408,849 (GRCm39)		probably null	Het
Ccdc33	A	T	9: 57,983,913 (GRCm39)	S220T	probably benign	Het
Celsr3	G	A	9: 108,719,751 (GRCm39)	R2450H	probably benign	Het
Cubn	T	A	2: 13,496,028 (GRCm39)	K69N	probably damaging	Het
Dclk3	A	G	9: 111,317,610 (GRCm39)	R749G	probably benign	Het
Dip2a	T	C	10: 76,149,030 (GRCm39)	N207S	probably benign	Het
Dok6	G	C	18: 89,432,988 (GRCm39)	R274G	probably null	Het
Esco2	G	A	14: 66,059,189 (GRCm39)	A496V	probably damaging	Het
Gbp5	A	T	3: 142,206,480 (GRCm39)	M55L	possibly damaging	Het
Grik5	T	C	7: 24,757,962 (GRCm39)	Y373C	probably damaging	Het
Hbs1l	T	A	10: 21,183,644 (GRCm39)	S128R	probably benign	Het
Ing3	A	G	6: 21,950,090 (GRCm39)	M28V	probably damaging	Het
Lmtk3	A	T	7: 45,444,512 (GRCm39)		probably benign	Het
Met	G	A	6: 17,531,527 (GRCm39)	V602I	probably benign	Het
Ndufaf7	C	A	17: 79,252,461 (GRCm39)	A290E	probably damaging	Het
Notch4	A	G	17: 34,804,924 (GRCm39)	Q1593R	probably benign	Het
Npl	A	G	1: 153,394,623 (GRCm39)		probably null	Het
Paqr6	T	C	3: 88,273,260 (GRCm39)	L84P	probably damaging	Het
Pros1	A	G	16: 62,748,432 (GRCm39)	Y635C	probably damaging	Het
Rad1	C	A	15: 10,486,745 (GRCm39)	N47K	probably damaging	Het
Rassf4	A	G	6: 116,615,258 (GRCm39)	F304L	probably damaging	Het
Tmem232	A	T	17: 65,709,992 (GRCm39)	V432E	probably damaging	Het
Wdr72	A	G	9: 74,117,457 (GRCm39)	K723R	possibly damaging	Het
Xpo7	G	A	14: 70,925,171 (GRCm39)	R493*	probably null	Het
Zfp11	G	A	5: 129,733,529 (GRCm39)	P644L	probably benign	Het

Other mutations in 1700066M21Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02302:1700066M21Rik	APN	1	57,422,257 (GRCm39)	missense	possibly damaging	0.95
R2071:1700066M21Rik	UTSW	1	57,422,474 (GRCm39)	missense	probably damaging	1.00
R3161:1700066M21Rik	UTSW	1	57,422,234 (GRCm39)	missense	probably benign	0.04
R4559:1700066M21Rik	UTSW	1	57,422,083 (GRCm39)	missense	possibly damaging	0.90
R4907:1700066M21Rik	UTSW	1	57,422,350 (GRCm39)	missense	probably damaging	1.00
R7296:1700066M21Rik	UTSW	1	57,422,302 (GRCm39)	missense	probably benign	0.30
R8471:1700066M21Rik	UTSW	1	57,422,223 (GRCm39)	missense	probably damaging	0.99
R8815:1700066M21Rik	UTSW	1	57,421,943 (GRCm39)	missense	probably damaging	1.00
R8886:1700066M21Rik	UTSW	1	57,422,008 (GRCm39)	missense	probably damaging	1.00
R9699:1700066M21Rik	UTSW	1	57,416,927 (GRCm39)	missense	probably benign	0.05
R9756:1700066M21Rik	UTSW	1	57,421,906 (GRCm39)	missense	possibly damaging	0.94

Predicted Primers

PCR Primer
(F):5'- GGATGCATCTAAACAGTATGTGAGTAC -3'
(R):5'- TTAAAGGCTCCAAAGTCCGG -3'

Sequencing Primer
(F):5'- AGTACACTGTAGCTGTCTTCAGAC -3'
(R):5'- GAGTATGTTCTGGTGCACCAAAC -3'

Posted On

2014-10-30