Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02727:1700019A02Rik'

305242

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 #

IGL02727

Quality Score

Status

Chromosome

Chromosomal Location

53197736-53226795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53226724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 13 (T13A)

Ref Sequence

ENSEMBL: ENSMUSP00000072089 (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 benign
Transcript: ENSMUST00000072235
AA Change: T13A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: T13A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190748

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	A	10: 83,342,469 (GRCm39)	K447I	probably damaging	Het
Ankrd17	A	G	5: 90,392,151 (GRCm39)	S1840P	possibly damaging	Het
Ash1l	A	G	3: 88,930,344 (GRCm39)	I1940M	probably benign	Het
Bfar	T	G	16: 13,506,791 (GRCm39)		probably null	Het
Bicra	G	T	7: 15,713,390 (GRCm39)	H937Q	possibly damaging	Het
Brip1	A	T	11: 86,043,562 (GRCm39)	M334K	probably benign	Het
Camsap2	T	G	1: 136,232,050 (GRCm39)	M182L	probably benign	Het
Chd6	A	T	2: 160,811,383 (GRCm39)	C1407S	probably damaging	Het
Cmya5	A	G	13: 93,234,753 (GRCm39)	S112P	possibly damaging	Het
Csmd1	A	T	8: 16,281,341 (GRCm39)	V728E	probably damaging	Het
Cyp2j6	T	A	4: 96,434,001 (GRCm39)	Q103L	probably benign	Het
Ddias	A	T	7: 92,515,830 (GRCm39)	I21K	probably damaging	Het
Derl2	A	C	11: 70,904,036 (GRCm39)		probably benign	Het
Dgka	A	T	10: 128,558,317 (GRCm39)		probably benign	Het
Dusp11	T	C	6: 85,938,474 (GRCm39)	D15G	probably damaging	Het
Enpp2	T	C	15: 54,773,577 (GRCm39)	D110G	probably damaging	Het
Fkbp11	A	T	15: 98,622,471 (GRCm39)	V134E	probably damaging	Het
Gm3248	T	C	14: 5,945,036 (GRCm38)	T49A	probably damaging	Het
Gm57858	T	A	3: 36,087,065 (GRCm39)	R176S	possibly damaging	Het
Irag2	T	C	6: 145,120,344 (GRCm39)	S520P	possibly damaging	Het
Luzp2	T	C	7: 54,821,939 (GRCm39)		probably benign	Het
Manea	C	A	4: 26,328,127 (GRCm39)	E305*	probably null	Het
Manea	T	A	4: 26,328,126 (GRCm39)	E305V	probably damaging	Het
Megf6	A	G	4: 154,337,606 (GRCm39)		probably null	Het
Mrpl3	G	T	9: 104,931,726 (GRCm39)	D59Y	probably damaging	Het
Myh9	T	C	15: 77,675,942 (GRCm39)	Y248C	probably benign	Het
Nbeal2	G	A	9: 110,468,353 (GRCm39)		probably benign	Het
Or10a5	G	T	7: 106,635,902 (GRCm39)	C180F	probably damaging	Het
Or1f19	T	A	16: 3,411,190 (GRCm39)	I310K	probably benign	Het
Or2y1c	G	T	11: 49,361,893 (GRCm39)	G305V	probably benign	Het
Or8b40	A	G	9: 38,027,808 (GRCm39)	T239A	probably damaging	Het
Pax8	C	A	2: 24,331,642 (GRCm39)	C147F	probably damaging	Het
Phf12	T	C	11: 77,914,493 (GRCm39)	V96A	possibly damaging	Het
Psg18	A	T	7: 18,079,875 (GRCm39)	I442K	probably damaging	Het
Pygl	T	A	12: 70,254,442 (GRCm39)		probably null	Het
Rassf2	C	A	2: 131,846,307 (GRCm39)	R150L	probably benign	Het
Rdh7	A	T	10: 127,723,487 (GRCm39)	W123R	probably damaging	Het
Saal1	T	C	7: 46,339,223 (GRCm39)		probably null	Het
Sall1	T	C	8: 89,757,383 (GRCm39)	D907G	probably damaging	Het
Spag1	T	A	15: 36,234,964 (GRCm39)	F876I	probably damaging	Het
Syncrip	G	A	9: 88,361,932 (GRCm39)	A61V	probably damaging	Het
Trbv3	A	T	6: 41,025,576 (GRCm39)	K55N	probably benign	Het
Vmn1r178	A	G	7: 23,593,871 (GRCm39)		probably null	Het
Vmn2r84	T	C	10: 130,229,995 (GRCm39)	D39G	possibly 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
IGL02249:1700019A02Rik	APN	1	53,224,431 (GRCm39)	nonsense	probably null
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