Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Retreg3'

241106

Institutional Source

Beutler Lab

Gene Symbol

Retreg3

Ensembl Gene

ENSMUSG00000017802

Gene Name

reticulophagy regulator family member 3

Synonyms

Fam134c, 1300010M03Rik, 4933404C01Rik

MMRRC Submission

040217-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2215 (G1)

Quality Score

184

Status

Not validated

Chromosome

Chromosomal Location

101096322-101119893 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 101119633 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 49 (Y49*)

Ref Sequence

ENSEMBL: ENSMUSP00000017946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000017946] [ENSMUST00000043680] [ENSMUST00000107295]

AlphaFold

Q9CQV4

Predicted Effect

probably null
Transcript: ENSMUST00000017946
AA Change: Y49*

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: Y49*

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: ENSMUST00000043680

SMART Domains

Protein: ENSMUSP00000048036
Gene: ENSMUSG00000035198

Domain	Start	End	E-Value	Type
Tubulin	48	247	2.05e-57	SMART
Tubulin_C	249	393	5.65e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000107295

SMART Domains

Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802

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: ENSMUST00000137844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154513

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,363,793 (GRCm38)	S1899T	probably damaging	Het
Accs	G	T	2: 93,841,898 (GRCm38)	N208K	probably benign	Het
Actn4	C	A	7: 28,918,753 (GRCm38)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,560,290 (GRCm38)	S233P	probably damaging	Het
Agmat	C	T	4: 141,749,588 (GRCm38)	R102C	probably benign	Het
Akap8l	T	C	17: 32,321,595 (GRCm38)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,677,176 (GRCm38)	I788V	probably damaging	Het
Arhgef12	G	T	9: 43,005,871 (GRCm38)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,051,021 (GRCm38)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 54,975,369 (GRCm38)	R43*	probably null	Het
Bcas3	T	C	11: 85,801,943 (GRCm38)	S862P	probably damaging	Het
Blm	A	T	7: 80,499,847 (GRCm38)	H671Q	possibly damaging	Het
Bmp8a	C	T	4: 123,325,118 (GRCm38)	V166I	probably benign	Het
Cep120	G	T	18: 53,727,635 (GRCm38)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,380,842 (GRCm38)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,840,475 (GRCm38)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,545,267 (GRCm38)	T242A	probably benign	Het
Dach1	A	G	14: 98,168,481 (GRCm38)		probably null	Het
Ddx20	A	T	3: 105,680,340 (GRCm38)		probably benign	Het
Eif4enif1	A	G	11: 3,227,476 (GRCm38)	S185G	probably damaging	Het
Ep400	A	T	5: 110,693,555 (GRCm38)		probably benign	Het
Fam117b	T	A	1: 59,969,060 (GRCm38)	I351K	probably damaging	Het
Fbxo31	T	C	8: 121,566,311 (GRCm38)	I112V	probably benign	Het
Galntl5	A	T	5: 25,198,478 (GRCm38)	N149I	probably damaging	Het
Gja8	A	T	3: 96,919,902 (GRCm38)	F148Y	probably damaging	Het
Gm9774	G	A	3: 92,428,423 (GRCm38)	A324V	probably damaging	Het
Gpatch1	A	T	7: 35,293,827 (GRCm38)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,740,233 (GRCm38)	T76M	probably damaging	Het
Htr4	T	A	18: 62,413,716 (GRCm38)	C113*	probably null	Het
Igf1r	T	A	7: 68,165,234 (GRCm38)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,405,044 (GRCm38)	P799L	unknown	Het
Lat	A	T	7: 126,367,965 (GRCm38)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,643,529 (GRCm38)	R51C	probably benign	Het
Map3k1	A	G	13: 111,755,788 (GRCm38)	S978P	probably benign	Het
Masp1	T	A	16: 23,452,521 (GRCm38)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,139,953 (GRCm38)	R415*	probably null	Het
Mtmr10	A	G	7: 64,337,655 (GRCm38)	T648A	probably benign	Het
Myh2	T	C	11: 67,191,737 (GRCm38)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,739,585 (GRCm38)	E64G	probably damaging	Het
Olfr1240	T	C	2: 89,440,037 (GRCm38)	M81V	probably benign	Het
Olfr1412	G	A	1: 92,588,986 (GRCm38)	V219I	probably benign	Het
Olfr503	T	C	7: 108,544,888 (GRCm38)	L119P	probably damaging	Het
Olfr788	A	T	10: 129,473,420 (GRCm38)	I243F	probably damaging	Het
Pcdhb8	T	G	18: 37,357,074 (GRCm38)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm38)		probably benign	Het
Pld1	A	T	3: 28,078,393 (GRCm38)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,376,985 (GRCm38)	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 20,961,743 (GRCm38)		probably null	Het
Rrp36	T	C	17: 46,672,820 (GRCm38)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,109,169 (GRCm38)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,660,215 (GRCm38)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,237,839 (GRCm38)		probably benign	Het
Smox	T	C	2: 131,520,270 (GRCm38)		probably null	Het
Spats2l	A	T	1: 57,946,416 (GRCm38)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,927,834 (GRCm38)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm38)		probably benign	Het
Tet2	T	A	3: 133,486,601 (GRCm38)	I691F	probably benign	Het
Tnxb	T	C	17: 34,704,140 (GRCm38)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,740,509 (GRCm38)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,639,318 (GRCm38)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm38)		probably null	Het
Ubr3	A	T	2: 69,979,317 (GRCm38)		probably null	Het
Usp37	A	C	1: 74,444,526 (GRCm38)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,424,339 (GRCm38)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 20,847,422 (GRCm38)	I291T	probably benign	Het
Zfp229	T	G	17: 21,746,277 (GRCm38)	V496G	possibly damaging	Het

Other mutations in Retreg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Retreg3	APN	11	101,100,925 (GRCm38)	nonsense	probably null
IGL02547:Retreg3	APN	11	101,106,378 (GRCm38)	nonsense	probably null
IGL03160:Retreg3	APN	11	101,099,675 (GRCm38)	missense	probably benign	0.03
IGL03405:Retreg3	APN	11	101,100,969 (GRCm38)	missense	probably damaging	1.00
R0646:Retreg3	UTSW	11	101,098,629 (GRCm38)	unclassified	probably benign
R1625:Retreg3	UTSW	11	101,102,049 (GRCm38)	start codon destroyed	probably null
R4361:Retreg3	UTSW	11	101,103,887 (GRCm38)	splice site	probably null
R5586:Retreg3	UTSW	11	101,106,339 (GRCm38)	missense	probably damaging	1.00
R5791:Retreg3	UTSW	11	101,100,943 (GRCm38)	missense	probably damaging	0.99
R6026:Retreg3	UTSW	11	101,106,400 (GRCm38)	missense	probably damaging	0.99
R6179:Retreg3	UTSW	11	101,103,895 (GRCm38)	start gained	probably benign
R6209:Retreg3	UTSW	11	101,119,700 (GRCm38)	missense	probably benign	0.27
R6869:Retreg3	UTSW	11	101,119,818 (GRCm38)	start gained	probably benign
R7553:Retreg3	UTSW	11	101,106,390 (GRCm38)	missense	possibly damaging	0.86
R7615:Retreg3	UTSW	11	101,102,980 (GRCm38)	missense	probably damaging	1.00
R8809:Retreg3	UTSW	11	101,102,026 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGCAAGTATCAGAAGCAGCC -3'
(R):5'- TGTTATTGTGACTCCCGGGC -3'

Sequencing Primer
(F):5'- TATCAGAAGCAGCCAGGGC -3'
(R):5'- CCGGATGTTGTGGCTGCTGAAG -3'

Posted On

2014-10-15