Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02249:1700019A02Rik'

286296

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700019A02Rik

Ensembl Gene

ENSMUSG00000060715

Gene Name

RIKEN cDNA 1700019A02 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.177) question?

Stock #

IGL02249

Quality Score

Status

Chromosome

Chromosomal Location

53197736-53226795 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 53224431 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 23 (K23*)

Ref Sequence

ENSEMBL: ENSMUSP00000139938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027267] [ENSMUST00000072235] [ENSMUST00000190748]

AlphaFold

A0A087WPV9

Predicted Effect

probably benign
Transcript: ENSMUST00000027267

SMART Domains

Protein: ENSMUSP00000027267
Gene: ENSMUSG00000026098

Domain	Start	End	E-Value	Type
HATPase_c	16	151	3.84e-1	SMART
DNA_mis_repair	210	338	2.46e-25	SMART
low complexity region	457	474	N/A	INTRINSIC
HMG	557	627	1.42e-17	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000072235
AA Change: K23*

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: K23*

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000190748
AA Change: K23*

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715
AA Change: K23*

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,068,739 (GRCm39)	L1333*	probably null	Het
Adcy6	C	A	15: 98,497,795 (GRCm39)	M452I	probably damaging	Het
Adsl	G	A	15: 80,844,676 (GRCm39)	R173H	probably benign	Het
Ank3	A	G	10: 69,718,200 (GRCm39)	T484A	probably damaging	Het
Apol10a	A	G	15: 77,372,709 (GRCm39)	D115G	probably damaging	Het
Bard1	A	G	1: 71,092,828 (GRCm39)	S529P	probably damaging	Het
C2	A	G	17: 35,083,484 (GRCm39)		probably benign	Het
Cftr	T	A	6: 18,277,870 (GRCm39)	I956N	possibly damaging	Het
Cwc15	A	G	9: 14,414,977 (GRCm39)	T110A	probably benign	Het
Dsg4	A	T	18: 20,594,361 (GRCm39)	I497F	possibly damaging	Het
Gadd45b	A	G	10: 80,766,967 (GRCm39)	D69G	possibly damaging	Het
Glb1l3	A	T	9: 26,742,564 (GRCm39)	S307R	possibly damaging	Het
Greb1l	G	A	18: 10,532,961 (GRCm39)	G843R	probably damaging	Het
H2-M11	A	T	17: 36,858,829 (GRCm39)	Y123F	probably benign	Het
Hal	G	A	10: 93,333,400 (GRCm39)	A323T	probably damaging	Het
Il4ra	T	C	7: 125,166,396 (GRCm39)	F47L	probably benign	Het
Klra10	T	A	6: 130,256,367 (GRCm39)	N96Y	probably benign	Het
Maco1	T	C	4: 134,555,623 (GRCm39)	I283M	possibly damaging	Het
Mki67	T	A	7: 135,302,251 (GRCm39)	M928L	possibly damaging	Het
Myh15	T	A	16: 48,930,847 (GRCm39)	V607D	probably damaging	Het
Ndufaf2	A	G	13: 108,217,925 (GRCm39)	W74R	probably damaging	Het
Noc4l	C	A	5: 110,801,081 (GRCm39)		probably benign	Het
Or51b6b	T	A	7: 103,309,573 (GRCm39)	I295F	probably damaging	Het
Papss1	T	A	3: 131,307,772 (GRCm39)	W274R	probably damaging	Het
Pax3	C	T	1: 78,171,962 (GRCm39)	V83I	probably damaging	Het
Prmt5	C	T	14: 54,747,322 (GRCm39)	R485H	probably damaging	Het
Ptprq	A	G	10: 107,418,220 (GRCm39)	Y1719H	probably damaging	Het
Ranbp2	A	T	10: 58,315,900 (GRCm39)	I2207F	possibly damaging	Het
Rock2	T	A	12: 17,021,042 (GRCm39)		probably benign	Het
Sema3c	G	A	5: 17,867,961 (GRCm39)	R124H	probably damaging	Het
Serpina1e	G	A	12: 103,917,393 (GRCm39)	T92M	probably benign	Het
Sgip1	T	C	4: 102,768,667 (GRCm39)	L83P	probably benign	Het
Tm9sf2	C	T	14: 122,361,162 (GRCm39)	S68L	probably damaging	Het
Tmem178	A	G	17: 81,297,235 (GRCm39)	T206A	probably damaging	Het
Tmem207	A	T	16: 26,336,617 (GRCm39)	Y46N	possibly damaging	Het
Tyk2	A	G	9: 21,031,703 (GRCm39)	L429P	probably damaging	Het

Other mutations in 1700019A02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:1700019A02Rik	APN	1	53,221,668 (GRCm39)	missense	probably benign	0.03
IGL02727:1700019A02Rik	APN	1	53,226,724 (GRCm39)	missense	probably benign	0.00
IGL02970:1700019A02Rik	APN	1	53,226,748 (GRCm39)	missense	probably damaging	0.99
IGL03402:1700019A02Rik	APN	1	53,216,972 (GRCm39)	missense	probably benign	0.00
R1557:1700019A02Rik	UTSW	1	53,221,025 (GRCm39)	missense	possibly damaging	0.81
R1955:1700019A02Rik	UTSW	1	53,202,400 (GRCm39)	missense	probably benign	0.09
R4030:1700019A02Rik	UTSW	1	53,221,668 (GRCm39)	missense	probably benign	0.03
R4060:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4061:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4062:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4327:1700019A02Rik	UTSW	1	53,221,664 (GRCm39)	missense	possibly damaging	0.90
R6018:1700019A02Rik	UTSW	1	53,202,405 (GRCm39)	critical splice acceptor site	probably null
R7490:1700019A02Rik	UTSW	1	53,202,389 (GRCm39)	missense	possibly damaging	0.90
R7715:1700019A02Rik	UTSW	1	53,221,659 (GRCm39)	missense	probably benign
R9487:1700019A02Rik	UTSW	1	53,221,665 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16