Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03160:Retreg3'

411379

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Retreg3

Ensembl Gene

ENSMUSG00000017802

Gene Name

reticulophagy regulator family member 3

Synonyms

Fam134c, 1300010M03Rik, 4933404C01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03160

Quality Score

Status

Chromosome

Chromosomal Location

101096322-101119893 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 101099675 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 89 (Q89K)

Ref Sequence

ENSEMBL: ENSMUSP00000102916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000019447] [ENSMUST00000107295] [ENSMUST00000142545]

AlphaFold

Q9CQV4

Predicted Effect

probably benign
Transcript: ENSMUST00000017946
AA Change: Q270K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: Q270K

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
transmembrane domain	79	101	N/A	INTRINSIC
transmembrane domain	186	208	N/A	INTRINSIC
low complexity region	376	397	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000019447

SMART Domains

Protein: ENSMUSP00000019447
Gene: ENSMUSG00000019303

Domain	Start	End	E-Value	Type
Pfam:TBPIP	11	181	1.9e-69	PFAM
Pfam:Penicillinase_R	14	123	6.1e-8	PFAM
Pfam:Mnd1	16	209	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000107295
AA Change: Q89K

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: Q89K

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	195	216	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126386

Predicted Effect

probably benign
Transcript: ENSMUST00000142545

SMART Domains

Protein: ENSMUSP00000117100
Gene: ENSMUSG00000019303

Domain	Start	End	E-Value	Type
Pfam:TBPIP	11	83	6.2e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154513

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	T	C	13: 111,255,928	S266P	probably benign	Het
Agrn	A	T	4: 156,170,363	F1525Y	probably damaging	Het
Akap13	T	C	7: 75,730,417	V2165A	probably damaging	Het
Cd109	G	T	9: 78,661,056		probably null	Het
Cdhr4	A	C	9: 107,995,869	T339P	probably benign	Het
Chek1	T	C	9: 36,722,645	H128R	probably damaging	Het
Clcn7	T	A	17: 25,146,453		probably benign	Het
Dnah9	A	G	11: 66,108,054	F1056S	probably damaging	Het
Eml3	A	T	19: 8,934,955	Q372L	probably benign	Het
Fam161b	T	C	12: 84,353,825	T458A	probably benign	Het
Fbxo3	T	A	2: 104,030,347	C36*	probably null	Het
Gm28042	T	A	2: 120,035,828	I369N	possibly damaging	Het
Gpc1	A	G	1: 92,857,857	Y423C	probably damaging	Het
Heatr5a	A	G	12: 51,884,496		probably benign	Het
Hectd4	A	T	5: 121,259,879	Y290F	probably benign	Het
Ifi207	T	C	1: 173,735,104		probably benign	Het
Kndc1	A	T	7: 139,920,689	K657*	probably null	Het
Lama5	T	C	2: 180,180,335	T2927A	probably damaging	Het
Lepr	A	T	4: 101,764,906	N345I	probably damaging	Het
Mtbp	T	C	15: 55,620,617		probably benign	Het
Muc1	G	A	3: 89,233,024	V608I	possibly damaging	Het
Olfr679	A	G	7: 105,086,313	N199S	probably damaging	Het
P2ry13	A	G	3: 59,210,075	L94P	probably damaging	Het
Rhoq	A	C	17: 86,996,921	Y160S	probably damaging	Het
Samd9l	A	T	6: 3,374,894	V789D	probably damaging	Het
Slc35f5	T	C	1: 125,574,735	S275P	probably damaging	Het
Slc51a	G	A	16: 32,478,750	R110C	probably damaging	Het
Snapc1	T	A	12: 73,970,204	H205Q	probably damaging	Het
Stard3	G	T	11: 98,378,911	R352L	probably damaging	Het
Stat5a	A	G	11: 100,861,845	I85V	possibly damaging	Het
Tenm3	A	T	8: 48,646,418	D117E	probably benign	Het
Tg	T	A	15: 66,839,303	C971*	probably null	Het
Tnrc6c	T	A	11: 117,749,825		probably benign	Het
Tra2a	C	T	6: 49,263,864	V4I	possibly damaging	Het
Trim54	C	T	5: 31,132,080	T145I	probably damaging	Het
Vmn2r75	T	C	7: 86,148,436	D723G	probably damaging	Het
Wisp3	T	C	10: 39,153,237	T232A	probably damaging	Het
Wnk1	T	C	6: 119,926,633	T2042A	probably damaging	Het
Zfp87	T	C	13: 67,521,273	E18G	probably damaging	Het

Other mutations in Retreg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Retreg3	APN	11	101100925	nonsense	probably null
IGL02547:Retreg3	APN	11	101106378	nonsense	probably null
IGL03405:Retreg3	APN	11	101100969	missense	probably damaging	1.00
R0646:Retreg3	UTSW	11	101098629	unclassified	probably benign
R1625:Retreg3	UTSW	11	101102049	start codon destroyed	probably null
R2215:Retreg3	UTSW	11	101119633	nonsense	probably null
R4361:Retreg3	UTSW	11	101103887	splice site	probably null
R5586:Retreg3	UTSW	11	101106339	missense	probably damaging	1.00
R5791:Retreg3	UTSW	11	101100943	missense	probably damaging	0.99
R6026:Retreg3	UTSW	11	101106400	missense	probably damaging	0.99
R6179:Retreg3	UTSW	11	101103895	start gained	probably benign
R6209:Retreg3	UTSW	11	101119700	missense	probably benign	0.27
R6869:Retreg3	UTSW	11	101119818	start gained	probably benign
R7553:Retreg3	UTSW	11	101106390	missense	possibly damaging	0.86
R7615:Retreg3	UTSW	11	101102980	missense	probably damaging	1.00
R8809:Retreg3	UTSW	11	101102026	missense	probably damaging	1.00

Posted On

2016-08-02