Mutagenetix > Incidental Mutation

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

4933404C01Rik, Fam134c, 1300010M03Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

100987148-101010719 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 100991751 bp (GRCm39)

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: 59,944,763 (GRCm39)		probably benign	Het
Acp7	T	C	7: 28,310,478 (GRCm39)	Y453C	probably damaging	Het
Bop1	T	C	15: 76,337,576 (GRCm39)	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,569,006 (GRCm39)	R974S	probably damaging	Het
Ceacam23	A	T	7: 17,649,616 (GRCm39)	H729L	possibly damaging	Het
Cenpt	T	C	8: 106,573,297 (GRCm39)	E350G	possibly damaging	Het
Cep112	G	T	11: 108,377,432 (GRCm39)	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236 (GRCm39)	T26A	probably damaging	Het
Crot	T	C	5: 9,023,955 (GRCm39)	H387R	probably damaging	Het
Fdxr	A	T	11: 115,160,402 (GRCm39)	V351E	probably benign	Het
Fkbpl	T	C	17: 34,864,718 (GRCm39)	L162P	probably damaging	Het
Fmn2	T	A	1: 174,523,220 (GRCm39)	N1358K	probably damaging	Het
Hectd4	G	T	5: 121,469,764 (GRCm39)	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,594,969 (GRCm39)	I42K	probably benign	Het
Igfals	C	T	17: 25,100,634 (GRCm39)	T575I	probably benign	Het
Il6	G	T	5: 30,218,487 (GRCm39)	V28F	probably damaging	Het
Irx1	A	G	13: 72,107,816 (GRCm39)	S289P	probably benign	Het
Ncoa2	T	C	1: 13,219,303 (GRCm39)	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 77,634,983 (GRCm39)	R28L	probably benign	Het
Nudt5	G	A	2: 5,869,238 (GRCm39)	V155I	probably benign	Het
Or9s13	G	T	1: 92,547,921 (GRCm39)	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,762,640 (GRCm39)	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,426,148 (GRCm39)		probably null	Het
Prodh	A	T	16: 17,894,208 (GRCm39)	V339E	probably damaging	Het
Rbm48	C	T	5: 3,634,762 (GRCm39)	V401M	probably benign	Het
Rif1	A	G	2: 51,975,152 (GRCm39)	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,626,926 (GRCm39)	V507M	probably damaging	Het
Safb2	T	A	17: 56,872,242 (GRCm39)	R197*	probably null	Het
Slc22a26	A	G	19: 7,767,464 (GRCm39)	V314A	probably benign	Het
Slfnl1	G	T	4: 120,390,553 (GRCm39)	R68L	probably damaging	Het
Spata1	G	T	3: 146,181,997 (GRCm39)	Q10K	possibly damaging	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Thpo	T	C	16: 20,547,205 (GRCm39)	D52G	probably damaging	Het
Tmem101	A	T	11: 102,045,486 (GRCm39)	L121Q	probably damaging	Het
Trim40	T	C	17: 37,194,133 (GRCm39)	I187V	probably benign	Het
Usp33	A	G	3: 152,074,206 (GRCm39)	K351E	possibly damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vcan	T	C	13: 89,828,077 (GRCm39)	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,385,771 (GRCm39)	V61I	probably benign	Het
Zfp804b	A	G	5: 6,820,931 (GRCm39)	S675P	probably damaging	Het

Other mutations in Retreg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02547:Retreg3	APN	11	100,997,204 (GRCm39)	nonsense	probably null
IGL03160:Retreg3	APN	11	100,990,501 (GRCm39)	missense	probably benign	0.03
IGL03405:Retreg3	APN	11	100,991,795 (GRCm39)	missense	probably damaging	1.00
R0646:Retreg3	UTSW	11	100,989,455 (GRCm39)	unclassified	probably benign
R1625:Retreg3	UTSW	11	100,992,875 (GRCm39)	start codon destroyed	probably null
R2215:Retreg3	UTSW	11	101,010,459 (GRCm39)	nonsense	probably null
R4361:Retreg3	UTSW	11	100,994,713 (GRCm39)	splice site	probably null
R5586:Retreg3	UTSW	11	100,997,165 (GRCm39)	missense	probably damaging	1.00
R5791:Retreg3	UTSW	11	100,991,769 (GRCm39)	missense	probably damaging	0.99
R6026:Retreg3	UTSW	11	100,997,226 (GRCm39)	missense	probably damaging	0.99
R6179:Retreg3	UTSW	11	100,994,721 (GRCm39)	start gained	probably benign
R6209:Retreg3	UTSW	11	101,010,526 (GRCm39)	missense	probably benign	0.27
R6869:Retreg3	UTSW	11	101,010,644 (GRCm39)	start gained	probably benign
R7553:Retreg3	UTSW	11	100,997,216 (GRCm39)	missense	possibly damaging	0.86
R7615:Retreg3	UTSW	11	100,993,806 (GRCm39)	missense	probably damaging	1.00
R8809:Retreg3	UTSW	11	100,992,852 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21