Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Retreg3'

503353

Institutional Source

Beutler Lab

Gene Symbol

Retreg3

Ensembl Gene

ENSMUSG00000017802

Gene Name

reticulophagy regulator family member 3

Synonyms

Fam134c, 1300010M03Rik, 4933404C01Rik

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101096322-101119893 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101119700 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 27 (G27D)

Ref Sequence

ENSEMBL: ENSMUSP00000017946 (fasta)

Gene Model

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

AlphaFold

Q9CQV4

Predicted Effect

probably benign
Transcript: ENSMUST00000017946
AA Change: G27D

PolyPhen 2 Score 0.268 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: G27D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,193,589	M990L	probably benign	Het
Agl	A	T	3: 116,785,196	Y429*	probably null	Het
Ahnak	A	T	19: 9,012,566	K3738M	probably damaging	Het
AI481877	A	G	4: 59,043,869	*1482R	probably null	Het
Amn	G	T	12: 111,275,411	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,779,251	V113I	probably benign	Het
Arhgef28	A	T	13: 97,929,409		probably null	Het
Atad2	A	G	15: 58,118,415	S18P	probably damaging	Het
C4b	T	A	17: 34,741,087	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,507,121	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,785,305	V366D	possibly damaging	Het
Ccdc129	T	A	6: 55,874,321	I62N	probably damaging	Het
Cdk17	A	T	10: 93,208,231	T11S	probably benign	Het
Cenpc1	A	G	5: 86,033,650	S619P	probably benign	Het
Clec4d	T	G	6: 123,270,529		probably null	Het
Disp2	T	C	2: 118,786,921	L132P	probably damaging	Het
Dync2h1	T	C	9: 7,165,677	K528R	probably benign	Het
Fbxw26	A	G	9: 109,717,965	I464T	possibly damaging	Het
Gaa	C	A	11: 119,281,171	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069	V262A	probably damaging	Het
Galnt17	T	A	5: 131,081,596	M302L	probably benign	Het
Gm5096	C	T	18: 87,757,217	A288V	probably damaging	Het
Gpn3	T	C	5: 122,382,112	I243T	probably benign	Het
Gpr160	T	C	3: 30,895,992	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,333,650	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,380,429	S379N	probably damaging	Het
H60b	C	A	10: 22,287,144	T206N	probably benign	Het
Hydin	A	T	8: 110,593,802	I4493F	probably benign	Het
Il19	C	T	1: 130,939,115	E43K	possibly damaging	Het
Ints2	A	G	11: 86,225,058	Y782H	probably damaging	Het
Jph1	C	A	1: 17,097,586	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,749,452	I62V	probably damaging	Het
Map7	G	A	10: 20,276,280		probably null	Het
Matk	T	G	10: 81,259,588	W81G	probably damaging	Het
Matn4	T	C	2: 164,400,815	Y121C	probably damaging	Het
Mical2	G	A	7: 112,324,086		probably null	Het
Miga2	T	G	2: 30,381,662	Y399D	probably damaging	Het
Mocos	A	T	18: 24,666,615	E302V	probably benign	Het
Mrpl11	C	T	19: 4,964,715	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,559,794	Y108D	probably damaging	Het
Mtr	A	G	13: 12,190,392	S1061P	probably benign	Het
Myh11	T	A	16: 14,208,291	K1309*	probably null	Het
Myom2	G	A	8: 15,104,173	V704I	possibly damaging	Het
Nars2	A	G	7: 97,057,521	H413R	probably benign	Het
Nckap1	A	G	2: 80,525,602	L619P	probably damaging	Het
Notch1	T	C	2: 26,472,805	N983S	probably damaging	Het
Nup210	A	G	6: 91,025,355	V717A	probably benign	Het
P4ha3	G	T	7: 100,317,085	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,490,484	R289Q	probably benign	Het
Phf11a	A	G	14: 59,287,579	S59P	probably damaging	Het
Phyhip	G	A	14: 70,463,358	S95N	probably benign	Het
Ppat	A	G	5: 76,918,146	V375A	probably benign	Het
Prkdc	A	G	16: 15,790,592	E3086G	probably damaging	Het
Psg22	A	G	7: 18,719,674	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,563,598	K1013*	probably null	Het
Rnd2	C	T	11: 101,468,999	L57F	probably damaging	Het
Rptn	C	G	3: 93,398,130	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,298,302		probably null	Het
Sept10	T	C	10: 59,170,848	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,897,170	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,390,482	M84K	probably damaging	Het
Skint11	A	G	4: 114,244,710	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,143,100	V459I	probably benign	Het
Smarca2	T	G	19: 26,771,004	Y126*	probably null	Het
Stab2	T	G	10: 86,923,003	N1024H	possibly damaging	Het
Svep1	A	C	4: 58,128,869	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068	T671I	probably damaging	Het
Thoc5	T	C	11: 4,905,697	I82T	probably damaging	Het
Tmem173	A	T	18: 35,736,102	I178N	probably damaging	Het
Tmem213	G	T	6: 38,115,582	C83F	probably damaging	Het
Topaz1	G	A	9: 122,750,505	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,214,812	G265V	possibly damaging	Het
Ttn	A	G	2: 76,709,464	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442	Q1201K	probably benign	Het
Zfp354a	T	A	11: 51,060,988		probably null	Het
Zfp418	T	C	7: 7,182,097	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,189,949		probably benign	Het
Zfp503	C	A	14: 21,985,710	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,258,118	K764E	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
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
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

Predicted Primers

PCR Primer
(F):5'- AATTCCCGCCTAGTAGGGTCAG -3'
(R):5'- TCCGTCTGATGAATGCGCAC -3'

Sequencing Primer
(F):5'- CCTAGTAGGGTCAGTGAGGGTCC -3'
(R):5'- CTGATGAATGCGCACCGGAG -3'

Posted On

2018-02-27