Incidental Mutation 'R6183:Ncald'
ID |
487639 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ncald
|
Ensembl Gene |
ENSMUSG00000051359 |
Gene Name |
neurocalcin delta |
Synonyms |
D030020D09Rik, D15Ertd412e |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6183 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
37366419-37792814 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 37397476 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 68
(V68D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130126
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090150]
[ENSMUST00000116445]
[ENSMUST00000119730]
[ENSMUST00000120746]
[ENSMUST00000148652]
[ENSMUST00000150453]
[ENSMUST00000153775]
[ENSMUST00000168992]
|
AlphaFold |
Q91X97 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090150
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000087611 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000116445
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112146 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119730
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113858 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000120746
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000112898 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132423
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148652
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121460 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
Pfam:EF-hand_5
|
149 |
163 |
1.2e-4 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000150453
AA Change: V68D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119726 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_7
|
3 |
88 |
3.9e-8 |
PFAM |
Pfam:EF-hand_8
|
39 |
88 |
8.2e-8 |
PFAM |
Pfam:EF-hand_1
|
64 |
88 |
5e-8 |
PFAM |
Pfam:EF-hand_6
|
64 |
88 |
1.6e-6 |
PFAM |
Pfam:EF-hand_5
|
65 |
86 |
2.5e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153775
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114576 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
174 |
1.4e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168992
AA Change: V68D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130126 Gene: ENSMUSG00000051359 AA Change: V68D
Domain | Start | End | E-Value | Type |
EFh
|
64 |
92 |
4.19e-4 |
SMART |
EFh
|
100 |
128 |
4.7e-7 |
SMART |
EFh
|
148 |
176 |
1.95e-4 |
SMART |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 94.0%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the neuronal calcium sensor (NCS) family of calcium-binding proteins. The protein contains an N-terminal myristoylation signal and four EF-hand calcium binding loops. The protein is cytosolic at resting calcium levels; however, elevated intracellular calcium levels induce a conformational change that exposes the myristoyl group, resulting in protein association with membranes and partial co-localization with the perinuclear trans-golgi network. The protein is thought to be a regulator of G protein-coupled receptor signal transduction. Several alternatively spliced variants of this gene have been determined, all of which encode the same protein; additional variants may exist but their biological validity has not been determined. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a targeted allele could not be generated. Mice heterozygous for the targeted allele exhibit increased systemic arterial systolic blood pressure. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
A |
5: 8,968,718 (GRCm39) |
D352E |
probably benign |
Het |
Adgrb3 |
T |
A |
1: 25,133,451 (GRCm39) |
I972L |
probably damaging |
Het |
Alg3 |
T |
C |
16: 20,429,391 (GRCm39) |
Y33C |
probably benign |
Het |
Atp1a3 |
C |
T |
7: 24,681,177 (GRCm39) |
G816D |
probably damaging |
Het |
Ccdc121 |
T |
C |
5: 31,645,320 (GRCm39) |
Y358H |
probably damaging |
Het |
Ces1g |
C |
T |
8: 94,057,867 (GRCm39) |
V145M |
possibly damaging |
Het |
Clip1 |
A |
G |
5: 123,780,667 (GRCm39) |
S339P |
probably damaging |
Het |
Col2a1 |
G |
T |
15: 97,886,671 (GRCm39) |
T378N |
unknown |
Het |
Dennd4b |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG |
ACAGCAGCAGCAGCAGCAGCAGCAGCAG |
3: 90,182,875 (GRCm39) |
|
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,583,726 (GRCm39) |
L3207Q |
probably damaging |
Het |
Efcab5 |
T |
C |
11: 77,028,084 (GRCm39) |
T416A |
probably benign |
Het |
Ephb1 |
A |
T |
9: 102,072,524 (GRCm39) |
I85N |
probably damaging |
Het |
Etnppl |
T |
C |
3: 130,413,966 (GRCm39) |
C22R |
probably damaging |
Het |
F830016B08Rik |
A |
G |
18: 60,432,949 (GRCm39) |
T11A |
probably benign |
Het |
Gm5458 |
C |
A |
14: 19,649,712 (GRCm39) |
V171L |
probably damaging |
Het |
Helb |
G |
T |
10: 119,948,903 (GRCm39) |
|
probably null |
Het |
Hnrnpll |
A |
G |
17: 80,357,305 (GRCm39) |
V237A |
possibly damaging |
Het |
Hps3 |
T |
C |
3: 20,063,032 (GRCm39) |
T712A |
probably benign |
Het |
Ibsp |
A |
G |
5: 104,453,896 (GRCm39) |
E78G |
possibly damaging |
Het |
Ighv1-62-2 |
G |
A |
12: 115,410,056 (GRCm39) |
A111V |
probably damaging |
Het |
Igkv4-63 |
G |
T |
6: 69,355,108 (GRCm39) |
Q58K |
probably damaging |
Het |
Iqcg |
T |
C |
16: 32,851,293 (GRCm39) |
Y226C |
probably damaging |
Het |
Khdc1a |
A |
T |
1: 21,420,332 (GRCm39) |
D30V |
possibly damaging |
Het |
Krtap5-5 |
C |
A |
7: 141,783,524 (GRCm39) |
C42F |
unknown |
Het |
Lmod3 |
T |
C |
6: 97,229,514 (GRCm39) |
N7D |
probably damaging |
Het |
Lvrn |
A |
G |
18: 46,983,752 (GRCm39) |
N165S |
probably benign |
Het |
Ms4a4c |
A |
G |
19: 11,403,593 (GRCm39) |
T192A |
possibly damaging |
Het |
Or4e5 |
T |
A |
14: 52,728,188 (GRCm39) |
T78S |
probably benign |
Het |
Pcdhgb7 |
A |
T |
18: 37,885,315 (GRCm39) |
I162F |
probably damaging |
Het |
Prokr1 |
T |
C |
6: 87,565,834 (GRCm39) |
T4A |
possibly damaging |
Het |
Qrich2 |
T |
A |
11: 116,348,955 (GRCm39) |
|
probably benign |
Het |
Rgl1 |
C |
T |
1: 152,462,321 (GRCm39) |
E60K |
possibly damaging |
Het |
Rtn1 |
A |
T |
12: 72,455,265 (GRCm39) |
W21R |
probably benign |
Het |
Scart2 |
A |
G |
7: 139,875,947 (GRCm39) |
T404A |
possibly damaging |
Het |
Spast |
A |
G |
17: 74,680,353 (GRCm39) |
I438M |
probably damaging |
Het |
Sptbn5 |
C |
T |
2: 119,889,898 (GRCm39) |
|
probably benign |
Het |
Sry |
C |
G |
Y: 2,662,975 (GRCm39) |
Q228H |
unknown |
Het |
Tas1r1 |
A |
G |
4: 152,116,998 (GRCm39) |
I212T |
probably damaging |
Het |
Tbc1d1 |
A |
G |
5: 64,432,768 (GRCm39) |
N439D |
probably damaging |
Het |
Tjp2 |
C |
T |
19: 24,078,155 (GRCm39) |
A913T |
probably damaging |
Het |
Tnfrsf26 |
A |
G |
7: 143,165,494 (GRCm39) |
L47P |
probably damaging |
Het |
Unc13a |
A |
T |
8: 72,097,310 (GRCm39) |
S1195T |
probably damaging |
Het |
Usp54 |
T |
C |
14: 20,602,313 (GRCm39) |
R1346G |
probably damaging |
Het |
Vmn1r54 |
T |
A |
6: 90,246,272 (GRCm39) |
M62K |
possibly damaging |
Het |
Vmn2r125 |
A |
T |
4: 156,702,364 (GRCm39) |
D50V |
probably damaging |
Het |
Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
Vmn2r95 |
T |
A |
17: 18,664,192 (GRCm39) |
N470K |
probably damaging |
Het |
Zc3h7a |
A |
T |
16: 10,965,234 (GRCm39) |
I633N |
possibly damaging |
Het |
|
Other mutations in Ncald |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00908:Ncald
|
APN |
15 |
37,372,451 (GRCm39) |
missense |
possibly damaging |
0.78 |
IGL02373:Ncald
|
APN |
15 |
37,372,453 (GRCm39) |
missense |
probably benign |
0.05 |
R0507:Ncald
|
UTSW |
15 |
37,397,528 (GRCm39) |
missense |
probably benign |
0.03 |
R1168:Ncald
|
UTSW |
15 |
37,397,578 (GRCm39) |
missense |
probably damaging |
0.99 |
R1700:Ncald
|
UTSW |
15 |
37,397,587 (GRCm39) |
missense |
probably benign |
0.04 |
R1914:Ncald
|
UTSW |
15 |
37,397,324 (GRCm39) |
missense |
probably benign |
0.00 |
R1915:Ncald
|
UTSW |
15 |
37,397,324 (GRCm39) |
missense |
probably benign |
0.00 |
R2057:Ncald
|
UTSW |
15 |
37,397,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3873:Ncald
|
UTSW |
15 |
37,397,497 (GRCm39) |
missense |
probably damaging |
1.00 |
R4612:Ncald
|
UTSW |
15 |
37,397,593 (GRCm39) |
missense |
probably benign |
0.04 |
R5071:Ncald
|
UTSW |
15 |
37,397,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R5073:Ncald
|
UTSW |
15 |
37,397,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R5074:Ncald
|
UTSW |
15 |
37,397,478 (GRCm39) |
missense |
probably damaging |
1.00 |
R7036:Ncald
|
UTSW |
15 |
37,369,122 (GRCm39) |
missense |
probably benign |
0.00 |
R7334:Ncald
|
UTSW |
15 |
37,397,524 (GRCm39) |
missense |
probably damaging |
0.99 |
R7764:Ncald
|
UTSW |
15 |
37,397,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R8286:Ncald
|
UTSW |
15 |
37,397,505 (GRCm39) |
nonsense |
probably null |
|
R8983:Ncald
|
UTSW |
15 |
37,397,512 (GRCm39) |
missense |
probably damaging |
1.00 |
R9488:Ncald
|
UTSW |
15 |
37,372,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CAGGGTCCTTACCTGTACAATC -3'
(R):5'- AATTCTTGTTGCCAGAATGGGG -3'
Sequencing Primer
(F):5'- GGGTCCTTACCTGTACAATCTCCAG -3'
(R):5'- AAGCTGCGCCCTGAAGTC -3'
|
Posted On |
2017-10-10 |