Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03227:Rtl9'

414132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rtl9

Ensembl Gene

ENSMUSG00000085584

Gene Name

retrotransposon Gag like 9

Synonyms

Rgag1, Mart9, Mar9

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL03227

Quality Score

Status

Chromosome

Chromosomal Location

141882590-141887293 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 141882824 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 79 (T79P)

Ref Sequence

ENSEMBL: ENSMUSP00000128287 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165829]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000165829
AA Change: T79P

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128287
Gene: ENSMUSG00000085584
AA Change: T79P

Domain	Start	End	E-Value	Type
internal_repeat_2	24	411	4.71e-5	PROSPERO
internal_repeat_1	56	459	4.41e-9	PROSPERO
internal_repeat_2	608	1036	4.71e-5	PROSPERO
internal_repeat_1	700	1107	4.41e-9	PROSPERO
low complexity region	1144	1153	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	T	1: 25,586,556 (GRCm39)	G172E	probably damaging	Het
Alas2	A	G	X: 149,340,262 (GRCm39)	K151E	probably damaging	Het
Apob	A	G	12: 8,066,089 (GRCm39)	T4353A	probably benign	Het
Arhgef1	C	A	7: 24,622,276 (GRCm39)	D554E	probably damaging	Het
Atad2b	T	A	12: 5,056,715 (GRCm39)	L857Q	probably damaging	Het
Atp2b4	C	A	1: 133,657,445 (GRCm39)		probably benign	Het
Bche	C	A	3: 73,608,945 (GRCm39)	K160N	probably damaging	Het
Bmx	A	G	X: 162,986,192 (GRCm39)	M537T	probably damaging	Het
Bysl	T	C	17: 47,922,017 (GRCm39)	N27S	probably benign	Het
Ccdc110	T	A	8: 46,394,586 (GRCm39)	L159H	probably damaging	Het
Cd34	G	A	1: 194,640,771 (GRCm39)	C212Y	probably damaging	Het
Erich2	C	T	2: 70,343,114 (GRCm39)		probably benign	Het
Fap	T	A	2: 62,361,107 (GRCm39)		probably null	Het
Fitm2	T	C	2: 163,311,452 (GRCm39)	T254A	probably benign	Het
Fscn3	T	C	6: 28,434,429 (GRCm39)	S335P	probably benign	Het
Grk2	C	T	19: 4,337,857 (GRCm39)	E508K	probably benign	Het
Lbr	T	C	1: 181,663,620 (GRCm39)		probably null	Het
Lct	A	T	1: 128,255,426 (GRCm39)	F205L	probably benign	Het
Magi3	A	T	3: 103,958,435 (GRCm39)	I550N	probably benign	Het
Med13	A	G	11: 86,218,618 (GRCm39)		probably benign	Het
Msh3	A	T	13: 92,422,468 (GRCm39)	S563T	probably damaging	Het
Msra	A	G	14: 64,551,192 (GRCm39)	V50A	probably benign	Het
Or7g25	A	G	9: 19,160,518 (GRCm39)	M59T	probably damaging	Het
Pcdhb13	T	A	18: 37,576,711 (GRCm39)	V363E	probably damaging	Het
Piezo2	G	A	18: 63,257,677 (GRCm39)	T347M	probably damaging	Het
Rapgef2	T	C	3: 78,999,920 (GRCm39)		probably benign	Het
Slc15a2	A	G	16: 36,576,410 (GRCm39)		probably null	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Smurf1	G	T	5: 144,835,992 (GRCm39)	P123H	probably damaging	Het
Strn4	A	G	7: 16,571,639 (GRCm39)	T590A	possibly damaging	Het
Trpm6	T	C	19: 18,796,483 (GRCm39)	S780P	probably benign	Het
Trpm6	T	C	19: 18,764,143 (GRCm39)	Y250H	probably benign	Het
Zfp770	A	T	2: 114,027,570 (GRCm39)	C166*	probably null	Het

Other mutations in Rtl9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02426:Rtl9	APN	X	141,886,098 (GRCm39)	missense	probably damaging	1.00
IGL02504:Rtl9	APN	X	141,885,287 (GRCm39)	missense	probably benign	0.38
R0193:Rtl9	UTSW	X	141,883,274 (GRCm39)	missense	probably damaging	1.00
R0627:Rtl9	UTSW	X	141,884,271 (GRCm39)	missense	possibly damaging	0.94
R1828:Rtl9	UTSW	X	141,886,011 (GRCm39)	missense	possibly damaging	0.87
R1967:Rtl9	UTSW	X	141,886,037 (GRCm39)	missense	probably damaging	1.00
R2060:Rtl9	UTSW	X	141,885,026 (GRCm39)	missense	possibly damaging	0.52

Posted On

2016-08-02