Incidental Mutation 'R5577:Necab3'
ID |
437247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Necab3
|
Ensembl Gene |
ENSMUSG00000027489 |
Gene Name |
N-terminal EF-hand calcium binding protein 3 |
Synonyms |
Apba2bp, XB51, 2900010M17Rik, Nip1 |
MMRRC Submission |
043132-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.133)
|
Stock # |
R5577 (G1)
|
Quality Score |
129 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
154386319-154400810 bp(-) (GRCm39) |
Type of Mutation |
splice site (1890 bp from exon) |
DNA Base Change (assembly) |
T to C
at 154387076 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117090
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000895]
[ENSMUST00000045116]
[ENSMUST00000109709]
[ENSMUST00000109716]
[ENSMUST00000125793]
|
AlphaFold |
Q9D6J4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000895
AA Change: I349V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000000895 Gene: ENSMUSG00000027489 AA Change: I349V
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_1
|
31 |
58 |
7.3e-8 |
PFAM |
Pfam:EF-hand_5
|
32 |
57 |
4.6e-9 |
PFAM |
low complexity region
|
180 |
203 |
N/A |
INTRINSIC |
coiled coil region
|
209 |
237 |
N/A |
INTRINSIC |
Pfam:ABM
|
252 |
327 |
4.4e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000045116
|
SMART Domains |
Protein: ENSMUSP00000035523 Gene: ENSMUSG00000038523
Domain | Start | End | E-Value | Type |
Pfam:Bclt
|
1 |
194 |
2.1e-90 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109709
|
SMART Domains |
Protein: ENSMUSP00000105331 Gene: ENSMUSG00000038523
Domain | Start | End | E-Value | Type |
Pfam:Bclt
|
1 |
207 |
1.9e-105 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109716
AA Change: I325V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000105338 Gene: ENSMUSG00000027489 AA Change: I325V
Domain | Start | End | E-Value | Type |
Pfam:EF-hand_1
|
31 |
59 |
6.9e-8 |
PFAM |
Pfam:EF-hand_5
|
32 |
57 |
1.7e-9 |
PFAM |
low complexity region
|
180 |
203 |
N/A |
INTRINSIC |
Pfam:ABM
|
232 |
303 |
2.7e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124382
|
Predicted Effect |
probably null
Transcript: ENSMUST00000125793
|
SMART Domains |
Protein: ENSMUSP00000117090 Gene: ENSMUSG00000027489
Domain | Start | End | E-Value | Type |
low complexity region
|
146 |
168 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135641
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
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 interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-competitive mechanism, and abolishes the suppression of beta-amyloid production by X11L. This protein, together with X11L, may play an important role in the regulatory system of amyloid precursor protein metabolism and beta-amyloid generation. The protein is phosphorylated by NIMA-related expressed kinase 2, and localizes to the Golgi apparatus. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9130023H24Rik |
A |
C |
7: 127,835,826 (GRCm39) |
Y256D |
probably damaging |
Het |
Acr |
C |
A |
15: 89,458,441 (GRCm39) |
T374K |
probably benign |
Het |
Akt2 |
G |
A |
7: 27,335,731 (GRCm39) |
G335R |
probably damaging |
Het |
Ccn3 |
T |
A |
15: 54,615,897 (GRCm39) |
I354N |
possibly damaging |
Het |
Cd177 |
A |
T |
7: 24,444,562 (GRCm39) |
F673Y |
probably damaging |
Het |
Clmn |
G |
T |
12: 104,743,329 (GRCm39) |
S879R |
probably damaging |
Het |
Csrp3 |
T |
C |
7: 48,489,225 (GRCm39) |
H19R |
possibly damaging |
Het |
Dmkn |
T |
C |
7: 30,463,971 (GRCm39) |
S137P |
probably damaging |
Het |
Eno1 |
C |
A |
4: 150,331,067 (GRCm39) |
Y236* |
probably null |
Het |
Enpp7 |
T |
A |
11: 118,882,953 (GRCm39) |
N342K |
probably benign |
Het |
Fancm |
T |
A |
12: 65,177,185 (GRCm39) |
|
probably benign |
Het |
Fshr |
A |
T |
17: 89,293,351 (GRCm39) |
D442E |
probably benign |
Het |
Gm3898 |
T |
A |
9: 43,741,362 (GRCm39) |
|
noncoding transcript |
Het |
Hdac7 |
A |
T |
15: 97,709,336 (GRCm39) |
S43T |
probably benign |
Het |
Herc1 |
T |
C |
9: 66,389,263 (GRCm39) |
C3927R |
probably damaging |
Het |
Klc4 |
G |
T |
17: 46,946,355 (GRCm39) |
A490D |
probably damaging |
Het |
Lcn9 |
T |
A |
2: 25,713,663 (GRCm39) |
I63N |
probably damaging |
Het |
Lgalsl |
G |
A |
11: 20,779,316 (GRCm39) |
Q110* |
probably null |
Het |
Lrp1b |
A |
T |
2: 40,765,135 (GRCm39) |
M2783K |
possibly damaging |
Het |
Lrrk2 |
A |
T |
15: 91,649,948 (GRCm39) |
Y1695F |
probably damaging |
Het |
Myo1e |
G |
A |
9: 70,277,753 (GRCm39) |
E817K |
probably benign |
Het |
Nav3 |
A |
T |
10: 109,605,264 (GRCm39) |
D936E |
probably damaging |
Het |
Nlrp1a |
T |
A |
11: 70,990,400 (GRCm39) |
I951F |
probably damaging |
Het |
Or5v1 |
T |
A |
17: 37,810,493 (GRCm39) |
I317K |
probably benign |
Het |
Or8b52 |
A |
G |
9: 38,576,297 (GRCm39) |
I281T |
possibly damaging |
Het |
Ppp2r5d |
T |
C |
17: 46,998,901 (GRCm39) |
S54G |
probably benign |
Het |
Prdx6 |
A |
G |
1: 161,071,255 (GRCm39) |
S146P |
probably damaging |
Het |
Sec24a |
A |
T |
11: 51,625,448 (GRCm39) |
H258Q |
probably benign |
Het |
Sec31a |
T |
C |
5: 100,550,133 (GRCm39) |
T194A |
possibly damaging |
Het |
Sqstm1 |
T |
C |
11: 50,098,266 (GRCm39) |
I167V |
probably benign |
Het |
Tas1r3 |
T |
C |
4: 155,946,522 (GRCm39) |
E361G |
probably benign |
Het |
Tlr1 |
T |
A |
5: 65,083,428 (GRCm39) |
Q383L |
possibly damaging |
Het |
Trappc8 |
G |
C |
18: 20,969,836 (GRCm39) |
Y1051* |
probably null |
Het |
Vmn2r2 |
T |
A |
3: 64,024,416 (GRCm39) |
M722L |
probably benign |
Het |
Vmn2r43 |
T |
C |
7: 8,247,811 (GRCm39) |
H784R |
probably damaging |
Het |
Zfp534 |
T |
G |
4: 147,759,173 (GRCm39) |
K499Q |
probably damaging |
Het |
|
Other mutations in Necab3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00090:Necab3
|
APN |
2 |
154,389,488 (GRCm39) |
unclassified |
probably benign |
|
IGL01515:Necab3
|
APN |
2 |
154,396,611 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02438:Necab3
|
APN |
2 |
154,387,964 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03150:Necab3
|
APN |
2 |
154,396,662 (GRCm39) |
missense |
probably damaging |
1.00 |
R0092:Necab3
|
UTSW |
2 |
154,400,659 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0102:Necab3
|
UTSW |
2 |
154,387,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0102:Necab3
|
UTSW |
2 |
154,387,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R0219:Necab3
|
UTSW |
2 |
154,388,013 (GRCm39) |
missense |
probably benign |
0.17 |
R0656:Necab3
|
UTSW |
2 |
154,388,223 (GRCm39) |
missense |
probably null |
0.28 |
R1728:Necab3
|
UTSW |
2 |
154,388,795 (GRCm39) |
missense |
probably benign |
0.09 |
R1729:Necab3
|
UTSW |
2 |
154,388,795 (GRCm39) |
missense |
probably benign |
0.09 |
R2192:Necab3
|
UTSW |
2 |
154,388,999 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4622:Necab3
|
UTSW |
2 |
154,397,502 (GRCm39) |
critical splice donor site |
probably null |
|
R5434:Necab3
|
UTSW |
2 |
154,389,379 (GRCm39) |
missense |
probably damaging |
1.00 |
R6603:Necab3
|
UTSW |
2 |
154,396,842 (GRCm39) |
missense |
probably damaging |
1.00 |
R7792:Necab3
|
UTSW |
2 |
154,388,200 (GRCm39) |
missense |
probably damaging |
1.00 |
R8195:Necab3
|
UTSW |
2 |
154,389,363 (GRCm39) |
missense |
probably benign |
0.05 |
R8831:Necab3
|
UTSW |
2 |
154,396,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAACGGCCTAGCTCCTGATC -3'
(R):5'- AGCAGATGACTCAGCCTCTG -3'
Sequencing Primer
(F):5'- TGATCCCTGGGCTGAGAGAC -3'
(R):5'- AGTCACCCTGCAGCAAGG -3'
|
Posted On |
2016-10-26 |