Mutagenetix > Incidental Mutation

Incidental Mutation 'R4819:Derl3'

370063

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

042000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4819 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75729247-75731775 bp(+) (GRCm39)

Type of Mutation

splice site (36 bp from exon)

DNA Base Change (assembly)

A to G at 75729713 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

noncoding transcript
Transcript: ENSMUST00000133189

Predicted Effect

probably benign
Transcript: ENSMUST00000140388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140408

Predicted Effect

probably null
Transcript: ENSMUST00000217811

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218718

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218506

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218932

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220190

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219994

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.5%
20x: 93.3%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,240,421 (GRCm39)	N761K	possibly damaging	Het
Adgrf3	T	A	5: 30,403,442 (GRCm39)	L444F	possibly damaging	Het
Akap8	G	A	17: 32,531,279 (GRCm39)	R378W	probably damaging	Het
Amotl2	C	T	9: 102,607,270 (GRCm39)	R693W	probably damaging	Het
As3mt	G	T	19: 46,695,968 (GRCm39)		probably benign	Het
Atp6v1e2	A	G	17: 87,251,966 (GRCm39)	V144A	probably benign	Het
Bfar	C	T	16: 13,505,331 (GRCm39)	Q114*	probably null	Het
Casd1	C	T	6: 4,621,225 (GRCm39)	A261V	probably damaging	Het
Cd177	A	T	7: 24,451,696 (GRCm39)	I440K	probably damaging	Het
Cfap54	G	T	10: 92,672,339 (GRCm39)	Y2910*	probably null	Het
Csl	A	G	10: 99,593,944 (GRCm39)	F374L	possibly damaging	Het
Dctn1	G	A	6: 83,167,501 (GRCm39)	R275H	probably damaging	Het
Dst	A	G	1: 34,007,916 (GRCm39)	I117V	probably benign	Het
Edc3	T	A	9: 57,655,680 (GRCm39)	C477S	possibly damaging	Het
Efs	T	C	14: 55,154,610 (GRCm39)	E450G	probably damaging	Het
Fcrla	T	A	1: 170,748,508 (GRCm39)	I212F	probably damaging	Het
Fsip2	A	G	2: 82,818,786 (GRCm39)	I4840V	probably benign	Het
Gpam	T	A	19: 55,066,773 (GRCm39)	I581F	probably benign	Het
Greb1l	A	G	18: 10,458,358 (GRCm39)	D45G	probably damaging	Het
Heca	A	G	10: 17,783,820 (GRCm39)	Y478H	probably damaging	Het
Hspa9	C	T	18: 35,072,441 (GRCm39)	M561I	probably damaging	Het
Hyal6	T	A	6: 24,734,965 (GRCm39)	Y299*	probably null	Het
Iho1	A	G	9: 108,283,877 (GRCm39)	V189A	probably benign	Het
Ik	T	A	18: 36,886,310 (GRCm39)		probably null	Het
Khsrp	A	G	17: 57,330,360 (GRCm39)	S582P	possibly damaging	Het
Kif18a	A	G	2: 109,122,471 (GRCm39)	D182G	probably damaging	Het
Krt1c	T	C	15: 101,719,979 (GRCm39)	T564A	unknown	Het
Lig4	A	G	8: 10,021,885 (GRCm39)	S632P	probably benign	Het
Med1	C	T	11: 98,046,258 (GRCm39)		probably benign	Het
Mgat3	T	A	15: 80,096,550 (GRCm39)	I459N	probably damaging	Het
Mkln1	A	T	6: 31,451,421 (GRCm39)	Q454L	probably benign	Het
Mn1	A	G	5: 111,567,803 (GRCm39)	E591G	possibly damaging	Het
Myo5c	T	A	9: 75,199,484 (GRCm39)	L1364Q	probably damaging	Het
Oas1d	T	C	5: 121,053,780 (GRCm39)	V80A	probably damaging	Het
Obscn	A	T	11: 58,929,674 (GRCm39)	D5180E	probably damaging	Het
Pax6	G	A	2: 105,522,622 (GRCm39)		probably null	Het
Pcdh15	A	C	10: 74,160,221 (GRCm39)	N446T	probably damaging	Het
Pcnx2	A	T	8: 126,581,969 (GRCm39)	F922L	probably benign	Het
Ptpn4	G	T	1: 119,587,580 (GRCm39)	T921K	probably benign	Het
Selenov	A	G	7: 27,989,746 (GRCm39)		probably null	Het
Tmem100	A	G	11: 89,926,271 (GRCm39)	T33A	probably benign	Het
Tmem59	C	T	4: 107,044,878 (GRCm39)	Q66*	probably null	Het
Trav21-dv12	T	A	14: 54,114,070 (GRCm39)	Y63*	probably null	Het
Trim66	G	T	7: 109,056,793 (GRCm39)	H1121Q	probably damaging	Het
Trim80	A	G	11: 115,338,769 (GRCm39)	Y533C	probably damaging	Het
Ttc17	G	A	2: 94,194,955 (GRCm39)	P520L	probably damaging	Het
Ttn	A	T	2: 76,622,093 (GRCm39)	V15483E	probably damaging	Het
Vinac1	G	T	2: 128,882,721 (GRCm39)	N98K	probably damaging	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 106,210,376 (GRCm39)		probably null	Het
Zfhx4	C	A	3: 5,468,974 (GRCm39)	T3069K	probably benign	Het
Zfp281	A	G	1: 136,553,448 (GRCm39)	H142R	probably benign	Het
Zfp462	G	T	4: 55,060,044 (GRCm39)	R1190L	probably damaging	Het
Zfp935	T	A	13: 62,602,231 (GRCm39)	H323L	probably damaging	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
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
R6914:Derl3	UTSW	10	75,730,050 (GRCm39)	splice site	probably null
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'- TGTTCCGGAAGTTCCAGGTG -3'
(R):5'- GGCGACTCTTTGGTCCAATAATAC -3'

Sequencing Primer
(F):5'- AAGTTCCAGGTGAGGCGGC -3'
(R):5'- GACTCTTTGGTCCAATAATACTGAAC -3'

Posted On

2016-02-04