Mutagenetix > Incidental Mutation

Incidental Mutation 'R6914:Derl3'

539236

Institutional Source

Beutler Lab

Gene Symbol

Derl3

Ensembl Gene

ENSMUSG00000009092

Gene Name

Der1-like domain family, member 3

Synonyms

IZP6, 1810006I20Rik, 1810063P04Rik, derlin-3

MMRRC Submission

045035-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6914 (G1)

Quality Score

151.008

Status

Validated

Chromosome

Chromosomal Location

75729247-75731775 bp(+) (GRCm39)

Type of Mutation

splice site (156 bp from exon)

DNA Base Change (assembly)

A to G at 75730050 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151623 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000925] [ENSMUST00000009236] [ENSMUST00000121304] [ENSMUST00000140388] [ENSMUST00000217811]

AlphaFold

Q9D8K3

Predicted Effect

probably benign
Transcript: ENSMUST00000000925

SMART Domains

Protein: ENSMUSP00000000925
Gene: ENSMUSG00000000902

Domain	Start	End	E-Value	Type
Blast:HX	31	52	9e-8	BLAST
Pfam:SNF5	179	254	1.1e-27	PFAM
Pfam:SNF5	249	373	3.1e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000009236

SMART Domains

Protein: ENSMUSP00000009236
Gene: ENSMUSG00000009092

Domain	Start	End	E-Value	Type
Pfam:DER1	13	203	7.4e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121304

SMART Domains

Protein: ENSMUSP00000112463
Gene: ENSMUSG00000000902

Domain	Start	End	E-Value	Type
Blast:HX	31	52	9e-8	BLAST
Pfam:SNF5	169	364	1.7e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140388

Predicted Effect

probably null
Transcript: ENSMUST00000217811

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.4%

Validation Efficiency

98% (46/47)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the derlin family, and resides in the endoplasmic reticulum (ER). Proteins that are unfolded or misfolded in the ER must be refolded or degraded to maintain the homeostasis of the ER. This protein appears to be involved in the degradation of misfolded glycoproteins in the ER. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for this gene trapped allele show no obvious phenotype alterations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004P03Rik	T	A	12: 17,061,298 (GRCm39)	K17*	probably null	Het
Abca6	T	C	11: 110,081,064 (GRCm39)	I1183V	probably benign	Het
Adap2	A	G	11: 80,045,891 (GRCm39)	D57G	probably benign	Het
Atmin	G	T	8: 117,683,452 (GRCm39)	V371F	probably benign	Het
Cacna1h	G	T	17: 25,604,013 (GRCm39)	A1273E	probably benign	Het
Cblb	G	A	16: 51,867,793 (GRCm39)	E134K	probably damaging	Het
Ccdc158	A	G	5: 92,809,929 (GRCm39)	V193A	probably benign	Het
Cnot9	T	A	1: 74,558,154 (GRCm39)	V100E	probably damaging	Het
Cog2	T	A	8: 125,271,875 (GRCm39)	V463D	probably benign	Het
Cracd	A	T	5: 77,004,854 (GRCm39)	Q405L	unknown	Het
Crybg3	C	T	16: 59,360,183 (GRCm39)	R2500H	possibly damaging	Het
Csmd3	C	A	15: 47,874,534 (GRCm39)	R687S	possibly damaging	Het
Dipk1c	A	C	18: 84,748,549 (GRCm39)	Y49S	possibly damaging	Het
Dlc1	T	C	8: 37,405,364 (GRCm39)	K142E	probably benign	Het
Dnai1	T	G	4: 41,625,176 (GRCm39)	M380R	probably benign	Het
Gas7	A	T	11: 67,550,977 (GRCm39)		probably null	Het
Gpt	C	A	15: 76,581,792 (GRCm39)	Q138K	probably benign	Het
Greb1	T	A	12: 16,757,903 (GRCm39)	E748V	probably damaging	Het
Gvin2	G	A	7: 105,551,187 (GRCm39)	Q622*	probably null	Het
Hecw1	A	C	13: 14,491,423 (GRCm39)	L523R	probably damaging	Het
Hhatl	G	A	9: 121,617,246 (GRCm39)	A329V	probably benign	Het
Homer3	C	T	8: 70,744,201 (GRCm39)	T276I	probably benign	Het
Igdcc4	G	A	9: 65,027,550 (GRCm39)	S204N	probably benign	Het
Klhl20	T	C	1: 160,921,266 (GRCm39)	D63G	possibly damaging	Het
Mccc2	C	A	13: 100,126,858 (GRCm39)	D137Y	probably damaging	Het
Nup42	T	A	5: 24,386,082 (GRCm39)	S205T	probably damaging	Het
Pde8b	T	A	13: 95,223,352 (GRCm39)	M301L	probably benign	Het
Pfas	C	T	11: 68,883,007 (GRCm39)	R759Q	probably benign	Het
Pom121	A	T	5: 135,407,011 (GRCm39)	F1175I	probably damaging	Het
Prom2	T	G	2: 127,372,295 (GRCm39)	I723L	possibly damaging	Het
Pth1r	C	T	9: 110,557,084 (GRCm39)		probably null	Het
Samd8	T	C	14: 21,825,221 (GRCm39)	I59T	possibly damaging	Het
Scgb2b18	A	G	7: 32,871,564 (GRCm39)	V85A	possibly damaging	Het
Sema6c	G	T	3: 95,080,519 (GRCm39)	V906L	probably benign	Het
Sipa1l3	T	C	7: 29,085,516 (GRCm39)	T694A	probably damaging	Het
Slc26a2	A	C	18: 61,332,351 (GRCm39)	I360S	probably damaging	Het
Slc8a1	A	G	17: 81,715,549 (GRCm39)	L828P	probably damaging	Het
Spry1	T	A	3: 37,697,193 (GRCm39)	D145E	probably benign	Het
Stat6	A	T	10: 127,487,131 (GRCm39)	N213Y	probably damaging	Het
Tbx20	T	C	9: 24,636,779 (GRCm39)	H436R	probably benign	Het
Tle2	T	C	10: 81,422,190 (GRCm39)	Y411H	probably damaging	Het
Tmem45a	T	C	16: 56,646,145 (GRCm39)	N25S	probably benign	Het
Trip11	T	C	12: 101,812,879 (GRCm39)	N1485S	probably benign	Het
Trrap	T	A	5: 144,720,853 (GRCm39)	I230N	possibly damaging	Het
Vezt	A	T	10: 93,806,313 (GRCm39)	H699Q	probably benign	Het
Vmn1r43	T	A	6: 89,847,319 (GRCm39)	I56F	probably benign	Het

Other mutations in Derl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02735:Derl3	APN	10	75,730,950 (GRCm39)	missense	probably damaging	0.97
IGL03143:Derl3	APN	10	75,730,324 (GRCm39)	missense	possibly damaging	0.90
R0730:Derl3	UTSW	10	75,731,076 (GRCm39)	splice site	probably benign
R4819:Derl3	UTSW	10	75,729,713 (GRCm39)	splice site	probably null
R5524:Derl3	UTSW	10	75,730,324 (GRCm39)	missense	possibly damaging	0.90
R6041:Derl3	UTSW	10	75,729,335 (GRCm39)	missense	probably damaging	0.99
R9018:Derl3	UTSW	10	75,729,604 (GRCm39)	missense	probably benign	0.00
R9125:Derl3	UTSW	10	75,730,443 (GRCm39)	missense	probably benign
R9318:Derl3	UTSW	10	75,729,848 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- AAGGCTGACTTCGTTTTCATG -3'
(R):5'- AAGAGTCAAGGCTTCCTGGAG -3'

Sequencing Primer
(F):5'- AGGCTGACTTCGTTTTCATGTTTCTC -3'
(R):5'- TCAAGGCTTCCTGGAGCAGTC -3'

Posted On

2018-11-06