Incidental Mutation 'R2334:Dlk1'
| ID |
246533 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dlk1
|
| Ensembl Gene |
ENSMUSG00000040856 |
| Gene Name |
delta like non-canonical Notch ligand 1 |
| Synonyms |
SCP1, pref-1, pG2, Peg9, ZOG, DlkI, FA1 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.657)
|
| Stock # |
R2334 (G1)
|
| Quality Score |
164 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
109418749-109429262 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 109419614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 10
(V10A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056110]
[ENSMUST00000109841]
[ENSMUST00000109842]
[ENSMUST00000109843]
[ENSMUST00000109844]
[ENSMUST00000109846]
[ENSMUST00000124293]
[ENSMUST00000173539]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056110
AA Change: V10A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063104
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
EGF
|
213 |
247 |
4.06e-6 |
SMART |
|
transmembrane domain
|
307 |
329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109841
AA Change: V10A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105467
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
transmembrane domain
|
214 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109842
AA Change: V10A
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105468
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
transmembrane domain
|
234 |
256 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109843
AA Change: V10A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105469
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
transmembrane domain
|
212 |
234 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109844
AA Change: V10A
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105470
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
EGF
|
213 |
247 |
4.06e-6 |
SMART |
|
transmembrane domain
|
307 |
329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109846
AA Change: V10A
PolyPhen 2
Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000105472
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
transmembrane domain
|
256 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124293
|
| SMART Domains |
Protein: ENSMUSP00000133530
Gene: ENSMUSG00000040856
| Domain | Start | End | E-Value | Type |
|---|
|
EGF
|
24 |
54 |
1.43e-1 |
SMART |
|
EGF
|
55 |
85 |
1.26e-2 |
SMART |
|
EGF_CA
|
87 |
124 |
1.77e-6 |
SMART |
|
EGF
|
129 |
167 |
8.71e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173539
AA Change: V10A
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133430
Gene: ENSMUSG00000040856
AA Change: V10A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
EGF
|
25 |
55 |
1.43e-1 |
SMART |
|
EGF
|
56 |
86 |
1.26e-2 |
SMART |
|
EGF_CA
|
88 |
125 |
1.77e-6 |
SMART |
|
EGF
|
130 |
168 |
8.71e-6 |
SMART |
|
EGF
|
175 |
208 |
1.41e-5 |
SMART |
|
transmembrane domain
|
232 |
254 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174539
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that contains multiple epidermal growth factor repeats that functions as a regulator of cell growth. The encoded protein is involved in the differentiation of several cell types including adipocytes. This gene is located in a region of chromosome 14 frequently showing unparental disomy, and is imprinted and expressed from the paternal allele. A single nucleotide variant in this gene is associated with child and adolescent obesity and shows polar overdominance, where heterozygotes carrying an active paternal allele express the phenotype, while mutant homozygotes are normal. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygote null mice have reduced fetal growth and 50% lethality 2 days after birth. Survivors are small but have enlarged fat pad masses. Homozygotes for another null allele have abnormal B cell development. Paternally-inherited null alleles phenocopy homozygotes due to maternal imprinting. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
A |
G |
4: 144,255,429 (GRCm39) |
K283R |
probably damaging |
Het |
| Ceacam20 |
T |
C |
7: 19,705,516 (GRCm39) |
F169S |
probably damaging |
Het |
| Clint1 |
A |
G |
11: 45,799,855 (GRCm39) |
Q556R |
probably damaging |
Het |
| Cpa5 |
G |
A |
6: 30,624,605 (GRCm39) |
W148* |
probably null |
Het |
| Cryz |
C |
T |
3: 154,327,828 (GRCm39) |
A310V |
probably benign |
Het |
| Fbxw16 |
T |
G |
9: 109,267,429 (GRCm39) |
L267F |
probably benign |
Het |
| Frmpd1 |
T |
C |
4: 45,285,408 (GRCm39) |
S1410P |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,884,261 (GRCm39) |
I982F |
probably damaging |
Het |
| Lrrfip2 |
G |
A |
9: 111,048,793 (GRCm39) |
C250Y |
probably benign |
Het |
| Mia3 |
A |
G |
1: 183,115,256 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
A |
12: 85,314,851 (GRCm39) |
D445V |
probably benign |
Het |
| Ndst4 |
T |
A |
3: 125,501,825 (GRCm39) |
N129K |
possibly damaging |
Het |
| Nlrp2 |
T |
A |
7: 5,340,534 (GRCm39) |
E93D |
probably benign |
Het |
| Olfm3 |
T |
A |
3: 114,895,608 (GRCm39) |
Y163* |
probably null |
Het |
| Or2ak5 |
A |
T |
11: 58,611,288 (GRCm39) |
Y195* |
probably null |
Het |
| Or5p59 |
C |
T |
7: 107,702,555 (GRCm39) |
T13I |
probably benign |
Het |
| Pdzph1 |
A |
G |
17: 59,229,644 (GRCm39) |
S1005P |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,150 (GRCm39) |
P258S |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,556,138 (GRCm39) |
E21962G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,087,202 (GRCm39) |
D1515G |
probably damaging |
Het |
| Vmn2r70 |
T |
C |
7: 85,208,800 (GRCm39) |
N559S |
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,662,032 (GRCm39) |
I158K |
probably benign |
Het |
|
| Other mutations in Dlk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0041:Dlk1
|
UTSW |
12 |
109,421,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0379:Dlk1
|
UTSW |
12 |
109,420,985 (GRCm39) |
unclassified |
probably benign |
|
|
R1250:Dlk1
|
UTSW |
12 |
109,425,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1363:Dlk1
|
UTSW |
12 |
109,421,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1757:Dlk1
|
UTSW |
12 |
109,425,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1763:Dlk1
|
UTSW |
12 |
109,424,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1772:Dlk1
|
UTSW |
12 |
109,425,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2189:Dlk1
|
UTSW |
12 |
109,420,975 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3751:Dlk1
|
UTSW |
12 |
109,426,239 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5256:Dlk1
|
UTSW |
12 |
109,425,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5268:Dlk1
|
UTSW |
12 |
109,425,764 (GRCm39) |
missense |
probably benign |
0.34 |
|
R5356:Dlk1
|
UTSW |
12 |
109,421,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5669:Dlk1
|
UTSW |
12 |
109,425,964 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5748:Dlk1
|
UTSW |
12 |
109,425,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5992:Dlk1
|
UTSW |
12 |
109,421,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6076:Dlk1
|
UTSW |
12 |
109,425,895 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6539:Dlk1
|
UTSW |
12 |
109,426,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6638:Dlk1
|
UTSW |
12 |
109,426,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7480:Dlk1
|
UTSW |
12 |
109,421,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Dlk1
|
UTSW |
12 |
109,420,889 (GRCm39) |
missense |
unknown |
|
|
R7602:Dlk1
|
UTSW |
12 |
109,421,551 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8531:Dlk1
|
UTSW |
12 |
109,424,066 (GRCm39) |
missense |
probably null |
0.06 |
|
R9120:Dlk1
|
UTSW |
12 |
109,424,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9554:Dlk1
|
UTSW |
12 |
109,420,889 (GRCm39) |
missense |
unknown |
|
|
X0020:Dlk1
|
UTSW |
12 |
109,425,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0053:Dlk1
|
UTSW |
12 |
109,426,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCGTCTAGCCAAAGAGTG -3'
(R):5'- TCAACAAGCAAGAGTGGTGC -3'
Sequencing Primer
(F):5'- TCTAGCCAAAGAGTGCGGCC -3'
(R):5'- GCACAGTGCAGGGCTTAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation