Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03145:1700020N01Rik'

410850

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700020N01Rik

Ensembl Gene

ENSMUSG00000050844

Gene Name

RIKEN cDNA 1700020N01 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

IGL03145

Quality Score

Status

Chromosome

Chromosomal Location

21469044-21498274 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21469337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 17 (D17G)

Ref Sequence

ENSEMBL: ENSMUSP00000054237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057341]

AlphaFold

Q8CF20

Predicted Effect

probably damaging
Transcript: ENSMUST00000057341
AA Change: D17G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000054237
Gene: ENSMUSG00000050844
AA Change: D17G

Domain	Start	End	E-Value	Type
KRAB	13	70	1.2e-12	SMART

Meta Mutation Damage Score

0.5038

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	C	T	8: 41,277,695 (GRCm39)	P29S	probably benign	Het
Afap1l1	T	C	18: 61,874,880 (GRCm39)	K434E	possibly damaging	Het
Akap7	T	C	10: 25,115,565 (GRCm39)	T187A	probably damaging	Het
Atp7b	A	C	8: 22,508,159 (GRCm39)	I479S	probably damaging	Het
Cdh23	T	A	10: 60,212,593 (GRCm39)	E1606V	probably damaging	Het
Cnga3	A	G	1: 37,300,755 (GRCm39)	S530G	probably damaging	Het
Col13a1	A	G	10: 61,727,040 (GRCm39)	Y228H	probably benign	Het
Cybb	C	A	X: 9,319,892 (GRCm39)	E203*	probably null	Het
Dnah6	A	T	6: 73,018,037 (GRCm39)	M3594K	probably damaging	Het
Galnt14	C	A	17: 73,811,903 (GRCm39)	Q439H	possibly damaging	Het
Gck	T	A	11: 5,859,093 (GRCm39)	D158V	probably damaging	Het
Gm5624	A	G	14: 44,798,222 (GRCm39)	M85T	possibly damaging	Het
Hgsnat	A	T	8: 26,436,480 (GRCm39)	N557K	probably damaging	Het
Idua	A	G	5: 108,829,362 (GRCm39)	T388A	probably benign	Het
Itgam	A	G	7: 127,712,191 (GRCm39)	D692G	probably benign	Het
Lrrtm3	A	G	10: 63,924,799 (GRCm39)	Y123H	probably benign	Het
Mccc1	C	T	3: 36,022,595 (GRCm39)	R566H	probably benign	Het
Myh7	A	T	14: 55,220,802 (GRCm39)	L999Q	probably damaging	Het
Myo6	T	G	9: 80,207,947 (GRCm39)	Y1146*	probably null	Het
Nr3c1	C	A	18: 39,619,313 (GRCm39)	G325W	probably damaging	Het
Or2r11	A	G	6: 42,437,434 (GRCm39)	V173A	probably benign	Het
Or5p72	T	A	7: 108,021,806 (GRCm39)	H9Q	probably benign	Het
Or7e170	T	A	9: 19,794,735 (GRCm39)	I289F	possibly damaging	Het
Phf1	T	C	17: 27,153,344 (GRCm39)		probably null	Het
Piezo1	T	C	8: 123,209,660 (GRCm39)	T2349A	probably benign	Het
Pih1d1	T	C	7: 44,808,545 (GRCm39)		probably null	Het
Pold3	A	G	7: 99,745,719 (GRCm39)	S145P	probably damaging	Het
Prpf38b	G	T	3: 108,811,261 (GRCm39)		probably benign	Het
Racgap1	A	T	15: 99,521,521 (GRCm39)	M545K	probably benign	Het
Safb	T	C	17: 56,912,287 (GRCm39)	Y802H	probably damaging	Het
Serpina3f	A	T	12: 104,183,716 (GRCm39)	M193L	probably benign	Het
Slc43a2	G	A	11: 75,459,263 (GRCm39)	V432M	probably benign	Het
Spata2l	T	C	8: 123,960,075 (GRCm39)	R405G	possibly damaging	Het
Sv2c	A	G	13: 96,125,606 (GRCm39)	V377A	probably damaging	Het
Tbc1d15	C	T	10: 115,038,421 (GRCm39)	M597I	probably benign	Het
Tenm4	A	T	7: 96,492,175 (GRCm39)	R1036S	probably damaging	Het
Tjp3	A	G	10: 81,119,522 (GRCm39)	Y15H	probably benign	Het
Tkt	A	G	14: 30,282,645 (GRCm39)		probably benign	Het
Tpm2	T	C	4: 43,519,447 (GRCm39)	E145G	probably damaging	Het
Trib2	G	A	12: 15,859,932 (GRCm39)	H110Y	probably damaging	Het
Trim60	A	T	8: 65,453,224 (GRCm39)	S342T	probably damaging	Het
Ube2o	T	C	11: 116,434,835 (GRCm39)	E542G	probably damaging	Het
Usp36	T	C	11: 118,170,067 (GRCm39)	D218G	probably damaging	Het
Zfp407	A	G	18: 84,227,846 (GRCm39)	L1921P	probably damaging	Het
Zfp983	G	T	17: 21,877,924 (GRCm39)	M42I	probably damaging	Het

Other mutations in 1700020N01Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0685:1700020N01Rik	UTSW	10	21,469,337 (GRCm39)	missense	probably damaging	1.00
R1186:1700020N01Rik	UTSW	10	21,497,551 (GRCm39)	missense	probably benign	0.01
R1626:1700020N01Rik	UTSW	10	21,497,571 (GRCm39)	missense	possibly damaging	0.52
R2507:1700020N01Rik	UTSW	10	21,497,681 (GRCm39)	utr 3 prime	probably benign
R6666:1700020N01Rik	UTSW	10	21,469,228 (GRCm39)	splice site	probably null
R6702:1700020N01Rik	UTSW	10	21,497,558 (GRCm39)	nonsense	probably null
R6703:1700020N01Rik	UTSW	10	21,497,558 (GRCm39)	nonsense	probably null
R8297:1700020N01Rik	UTSW	10	21,497,578 (GRCm39)	missense	probably damaging	0.98

Posted On

2016-08-02