Mutagenetix > Incidental Mutation

Incidental Mutation 'R4361:Retreg3'

324926

Institutional Source

Beutler Lab

Gene Symbol

Retreg3

Ensembl Gene

ENSMUSG00000017802

Gene Name

reticulophagy regulator family member 3

Synonyms

Fam134c, 1300010M03Rik, 4933404C01Rik

MMRRC Submission

041112-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4361 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101096322-101119893 bp(-) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 101103887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102916 (fasta)

Gene Model

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

AlphaFold

Q9CQV4

Predicted Effect

probably null
Transcript: ENSMUST00000017946

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802

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

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: ENSMUST00000142733

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147201

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154513

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.6%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,162,706 (GRCm38)	T538A	probably damaging	Het
1700027J19Rik	A	G	7: 4,151,780 (GRCm38)	V3A	possibly damaging	Het
4930578I07Rik	T	C	14: 66,938,401 (GRCm38)		noncoding transcript	Het
Aadac	T	A	3: 60,039,761 (GRCm38)	S293R	probably benign	Het
Cc2d1b	G	A	4: 108,624,750 (GRCm38)		probably benign	Het
Ccdc157	C	T	11: 4,146,550 (GRCm38)	A400T	probably damaging	Het
Cyp11b1	T	A	15: 74,839,016 (GRCm38)	M232L	possibly damaging	Het
Dhrs2	G	A	14: 55,241,189 (GRCm38)	D264N	probably damaging	Het
Dram2	T	C	3: 106,566,215 (GRCm38)		probably benign	Het
Dtx4	C	A	19: 12,485,296 (GRCm38)	S373I	probably benign	Het
Eif4a1	G	A	11: 69,667,464 (GRCm38)		probably benign	Het
Eps15	T	C	4: 109,380,031 (GRCm38)		probably null	Het
Fam122c	G	A	X: 53,293,499 (GRCm38)	R94H	possibly damaging	Het
Fam135b	T	A	15: 71,490,827 (GRCm38)	Q235L	probably damaging	Het
Fgfr3	T	C	5: 33,723,332 (GRCm38)		probably benign	Het
Gabra4	C	T	5: 71,633,545 (GRCm38)		probably null	Het
Gins1	A	G	2: 150,925,901 (GRCm38)	Y117C	probably damaging	Het
Gm12253	T	A	11: 58,434,861 (GRCm38)	S53T	probably benign	Het
Gm884	CTTTT	CTTTTT	11: 103,617,501 (GRCm38)		probably null	Het
Gne	C	A	4: 44,059,947 (GRCm38)	A149S	possibly damaging	Het
Gpc2	A	T	5: 138,278,290 (GRCm38)	C191*	probably null	Het
Has2	G	T	15: 56,681,948 (GRCm38)	A86E	probably damaging	Het
Ift80	A	T	3: 68,963,649 (GRCm38)	S205T	probably damaging	Het
Irx5	G	T	8: 92,358,397 (GRCm38)	A72S	probably damaging	Het
Kcnmb4	A	T	10: 116,473,505 (GRCm38)	V6E	probably benign	Het
Kcnt1	A	T	2: 25,878,032 (GRCm38)	Q51L	probably benign	Het
Klk1b11	A	G	7: 43,995,954 (GRCm38)		probably null	Het
Kmt2d	T	G	15: 98,863,670 (GRCm38)	M600L	unknown	Het
Lmtk2	T	A	5: 144,147,664 (GRCm38)	S172R	probably damaging	Het
Lrrc46	G	A	11: 97,034,670 (GRCm38)		probably benign	Het
Mab21l2	C	T	3: 86,547,190 (GRCm38)	V168M	probably damaging	Het
Magea3	C	A	X: 154,948,853 (GRCm38)	C218F	probably benign	Het
Magea3	A	C	X: 154,948,854 (GRCm38)	C218G	possibly damaging	Het
Man1a2	T	C	3: 100,656,042 (GRCm38)	K96E	probably benign	Het
Mroh2a	A	T	1: 88,254,965 (GRCm38)	N1205I	possibly damaging	Het
Myf6	GGGGGCAG	GG	10: 107,494,432 (GRCm38)		probably benign	Het
Myom2	G	A	8: 15,112,018 (GRCm38)	V984I	possibly damaging	Het
Nav1	G	A	1: 135,607,437 (GRCm38)		probably benign	Het
Nav3	T	C	10: 109,852,986 (GRCm38)	K477E	probably damaging	Het
Nup98	T	A	7: 102,145,714 (GRCm38)	H862L	probably damaging	Het
Pcnx2	G	T	8: 125,768,298 (GRCm38)	S1608*	probably null	Het
Pramef25	A	G	4: 143,950,863 (GRCm38)	F49L	possibly damaging	Het
Ren1	A	G	1: 133,359,041 (GRCm38)	I303V	probably benign	Het
Rnf6	C	A	5: 146,211,279 (GRCm38)	V310F	probably damaging	Het
Rufy4	T	C	1: 74,147,663 (GRCm38)	C537R	probably damaging	Het
Scrn2	C	T	11: 97,032,238 (GRCm38)	A169V	probably null	Het
Slc4a10	T	C	2: 62,243,385 (GRCm38)	S264P	probably benign	Het
Tex26	A	T	5: 149,460,923 (GRCm38)	Q102L	probably benign	Het
Tex38	A	G	4: 115,780,223 (GRCm38)	S128P	probably benign	Het
Trmt1l	A	G	1: 151,435,875 (GRCm38)		probably benign	Het
Tyr	G	T	7: 87,429,076 (GRCm38)	H525Q	probably benign	Het
Veph1	T	C	3: 66,159,316 (GRCm38)	N417S	probably benign	Het
Zfp597	A	T	16: 3,865,900 (GRCm38)	S331T	probably 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
R2215:Retreg3	UTSW	11	101,119,633 (GRCm38)	nonsense	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'- TCAGGTTGTAAGTCACCACTTC -3'
(R):5'- GCAATGTAACATGGGAGCTCC -3'

Sequencing Primer
(F):5'- GTCTCGTCCTATAGAGAAGACACTTG -3'
(R):5'- AACATGGGAGCTCCTTTTTATTGGC -3'

Posted On

2015-07-06