Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03405:Retreg3'

421581

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 #

IGL03405

Quality Score

Status

Chromosome

Chromosomal Location

100987148-101010719 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100991795 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 46 (D46G)

Ref Sequence

ENSEMBL: ENSMUSP00000102916 (fasta)

Gene Model

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

AlphaFold

Q9CQV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000017946
AA Change: D227G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000017946
Gene: ENSMUSG00000017802
AA Change: D227G

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 damaging
Transcript: ENSMUST00000107295
AA Change: D46G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102916
Gene: ENSMUSG00000017802
AA Change: D46G

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,907,229 (GRCm39)	V101A	probably benign	Het
Btbd3	G	A	2: 138,121,681 (GRCm39)	M121I	probably damaging	Het
Caprin1	G	A	2: 103,609,850 (GRCm39)	R143C	probably damaging	Het
Cfap206	A	G	4: 34,716,445 (GRCm39)	I340T	possibly damaging	Het
Chmp6	A	G	11: 119,806,273 (GRCm39)	Y33C	probably damaging	Het
Clstn3	T	C	6: 124,415,327 (GRCm39)	D679G	possibly damaging	Het
Col24a1	G	A	3: 145,020,918 (GRCm39)	A430T	possibly damaging	Het
Commd6	A	T	14: 101,874,508 (GRCm39)	V28E	probably damaging	Het
Eno2	T	A	6: 124,740,848 (GRCm39)	Y236F	probably benign	Het
Erbb4	T	C	1: 68,369,397 (GRCm39)	S415G	probably benign	Het
Evpl	A	G	11: 116,118,753 (GRCm39)	I648T	possibly damaging	Het
Fat1	T	A	8: 45,478,278 (GRCm39)	D2441E	probably damaging	Het
Fat4	T	C	3: 39,012,599 (GRCm39)	V2298A	probably benign	Het
Fbxl8	C	A	8: 105,994,752 (GRCm39)	T88K	probably benign	Het
Ganc	A	G	2: 120,264,247 (GRCm39)	H400R	probably damaging	Het
Helb	G	A	10: 119,925,701 (GRCm39)	T892I	probably damaging	Het
Jaml	A	T	9: 45,005,107 (GRCm39)	K124N	possibly damaging	Het
Llgl2	G	T	11: 115,741,668 (GRCm39)	E599D	probably benign	Het
Nelfcd	G	A	2: 174,268,625 (GRCm39)	A559T	possibly damaging	Het
Nr2e1	G	A	10: 42,444,377 (GRCm39)	A244V	probably damaging	Het
Obscn	T	C	11: 58,890,950 (GRCm39)	K7194R	unknown	Het
Or2o1	A	G	11: 49,051,713 (GRCm39)		probably null	Het
Or5m8	A	G	2: 85,822,230 (GRCm39)	Q23R	possibly damaging	Het
Rasgrf2	A	T	13: 92,044,170 (GRCm39)	I961N	probably damaging	Het
Rtp2	A	C	16: 23,746,326 (GRCm39)	S122A	probably benign	Het
Sbf2	T	A	7: 110,062,139 (GRCm39)	D146V	probably damaging	Het
Slc39a13	A	G	2: 90,893,448 (GRCm39)	V324A	probably damaging	Het
Sptan1	A	G	2: 29,915,593 (GRCm39)	T2013A	probably damaging	Het
Tnni3k	A	G	3: 154,498,404 (GRCm39)		probably benign	Het
Tnpo1	C	T	13: 99,000,348 (GRCm39)	E340K	probably damaging	Het
Trpm2	G	A	10: 77,801,906 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,539,276 (GRCm39)	L34570P	possibly damaging	Het
Vmn2r100	T	C	17: 19,752,186 (GRCm39)	V806A	probably damaging	Het
Wdr70	A	G	15: 8,065,352 (GRCm39)	S237P	possibly damaging	Het
Wnk1	T	C	6: 119,930,856 (GRCm39)	N896S	probably benign	Het
Zan	T	A	5: 137,422,859 (GRCm39)	D2718V	unknown	Het

Other mutations in Retreg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01085:Retreg3	APN	11	100,991,751 (GRCm39)	nonsense	probably null
IGL02547:Retreg3	APN	11	100,997,204 (GRCm39)	nonsense	probably null
IGL03160:Retreg3	APN	11	100,990,501 (GRCm39)	missense	probably benign	0.03
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

2016-08-02