Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01085:Retreg3'

52253

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 #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

101096322-101119893 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 101100925 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 61 (Q61*)

Ref Sequence

ENSEMBL: ENSMUSP00000102916 (fasta)

Gene Model

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

AlphaFold

Q9CQV4

Predicted Effect

probably null
Transcript: ENSMUST00000017946
AA Change: Q242*

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: Q242*

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 null
Transcript: ENSMUST00000107295
AA Change: Q61*

SMART Domains

Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: Q61*

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: 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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 60,037,342		probably benign	Het
Acp7	T	C	7: 28,611,053	Y453C	probably damaging	Het
Bop1	T	C	15: 76,453,376	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,678,994	R974S	probably damaging	Het
Cenpt	T	C	8: 105,846,665	E350G	possibly damaging	Het
Cep112	G	T	11: 108,486,606	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236	T26A	probably damaging	Het
Crot	T	C	5: 8,973,955	H387R	probably damaging	Het
Fdxr	A	T	11: 115,269,576	V351E	probably benign	Het
Fkbpl	T	C	17: 34,645,744	L162P	probably damaging	Het
Fmn2	T	A	1: 174,695,654	N1358K	probably damaging	Het
Gm5155	A	T	7: 17,915,691	H729L	possibly damaging	Het
Hectd4	G	T	5: 121,331,701	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,676,732	I42K	probably benign	Het
Igfals	C	T	17: 24,881,660	T575I	probably benign	Het
Il6	G	T	5: 30,013,489	V28F	probably damaging	Het
Irx1	A	G	13: 71,959,697	S289P	probably benign	Het
Ncoa2	T	C	1: 13,149,079	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 76,908,354	R28L	probably benign	Het
Nudt5	G	A	2: 5,864,427	V155I	probably benign	Het
Olfr12	G	T	1: 92,620,199	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,309,603	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,562,752		probably null	Het
Prodh	A	T	16: 18,076,344	V339E	probably damaging	Het
Rbm48	C	T	5: 3,584,762	V401M	probably benign	Het
Rif1	A	G	2: 52,085,140	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,809,062	V507M	probably damaging	Het
Safb2	T	A	17: 56,565,242	R197*	probably null	Het
Slc22a26	A	G	19: 7,790,099	V314A	probably benign	Het
Slfnl1	G	T	4: 120,533,356	R68L	probably damaging	Het
Spata1	G	T	3: 146,476,242	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,280,727	M95V	possibly damaging	Het
Thpo	T	C	16: 20,728,455	D52G	probably damaging	Het
Tmem101	A	T	11: 102,154,660	L121Q	probably damaging	Het
Trim40	T	C	17: 36,883,241	I187V	probably benign	Het
Usp33	A	G	3: 152,368,569	K351E	possibly damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vcan	T	C	13: 89,679,958	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,408,789	V61I	probably benign	Het
Zfp804b	A	G	5: 6,770,931	S675P	probably damaging	Het

Other mutations in Retreg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02547:Retreg3	APN	11	101106378	nonsense	probably null
IGL03160:Retreg3	APN	11	101099675	missense	probably benign	0.03
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

2013-06-21