Incidental Mutation 'IGL03247:Necab1'
ID |
414438 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Necab1
|
Ensembl Gene |
ENSMUSG00000040536 |
Gene Name |
N-terminal EF-hand calcium binding protein 1 |
Synonyms |
NECAB1, STIP-1, Efcbp1, 1700003H21Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
IGL03247
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
14952245-15149794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 14960046 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 300
(M300I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103908
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041606]
[ENSMUST00000108273]
|
AlphaFold |
Q8BG18 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041606
AA Change: M300I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000038165 Gene: ENSMUSG00000040536 AA Change: M300I
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
EFh
|
30 |
58 |
4.06e-2 |
SMART |
EFh
|
64 |
92 |
6.56e0 |
SMART |
coiled coil region
|
135 |
163 |
N/A |
INTRINSIC |
coiled coil region
|
209 |
244 |
N/A |
INTRINSIC |
Pfam:ABM
|
251 |
326 |
2.1e-14 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108273
AA Change: M300I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103908 Gene: ENSMUSG00000040536 AA Change: M300I
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
EFh
|
30 |
58 |
4.06e-2 |
SMART |
EFh
|
64 |
92 |
6.56e0 |
SMART |
coiled coil region
|
135 |
163 |
N/A |
INTRINSIC |
coiled coil region
|
209 |
244 |
N/A |
INTRINSIC |
Pfam:ABM
|
251 |
326 |
2.4e-13 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
T |
A |
14: 56,007,553 (GRCm39) |
I926F |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,692,820 (GRCm39) |
N418D |
probably damaging |
Het |
Alms1 |
T |
C |
6: 85,655,579 (GRCm39) |
V3375A |
possibly damaging |
Het |
Ankrd6 |
T |
A |
4: 32,860,441 (GRCm39) |
M1L |
possibly damaging |
Het |
Aox4 |
A |
G |
1: 58,303,526 (GRCm39) |
D1188G |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,952,999 (GRCm39) |
L47Q |
probably damaging |
Het |
Catsper2 |
A |
G |
2: 121,240,681 (GRCm39) |
V107A |
probably benign |
Het |
Catsperg2 |
T |
C |
7: 29,416,473 (GRCm39) |
N313S |
possibly damaging |
Het |
Dolk |
T |
C |
2: 30,175,523 (GRCm39) |
Y174C |
probably damaging |
Het |
Erfe |
A |
G |
1: 91,298,147 (GRCm39) |
E219G |
probably benign |
Het |
Ern2 |
T |
C |
7: 121,770,894 (GRCm39) |
E733G |
probably benign |
Het |
Fam228a |
A |
G |
12: 4,787,734 (GRCm39) |
F13S |
probably damaging |
Het |
Fancd2 |
T |
C |
6: 113,545,169 (GRCm39) |
V829A |
probably benign |
Het |
Gid4 |
C |
A |
11: 60,323,169 (GRCm39) |
T87N |
probably benign |
Het |
H2-Ob |
A |
G |
17: 34,462,466 (GRCm39) |
K152R |
probably benign |
Het |
Ifna2 |
T |
A |
4: 88,601,614 (GRCm39) |
T135S |
probably benign |
Het |
Il1rapl2 |
G |
A |
X: 137,690,429 (GRCm39) |
G298D |
probably damaging |
Het |
Mbd1 |
T |
A |
18: 74,407,825 (GRCm39) |
L174* |
probably null |
Het |
Mga |
T |
A |
2: 119,765,994 (GRCm39) |
D1341E |
possibly damaging |
Het |
Mmp12 |
T |
A |
9: 7,348,631 (GRCm39) |
M54K |
probably benign |
Het |
Mphosph8 |
T |
A |
14: 56,916,277 (GRCm39) |
|
probably null |
Het |
Mrps23 |
A |
G |
11: 88,100,922 (GRCm39) |
|
probably benign |
Het |
Nid2 |
G |
A |
14: 19,829,688 (GRCm39) |
D660N |
probably damaging |
Het |
Or2ag12 |
T |
A |
7: 106,276,754 (GRCm39) |
H313L |
probably benign |
Het |
Or9r7 |
T |
A |
10: 129,962,584 (GRCm39) |
E114V |
probably damaging |
Het |
P2ry13 |
A |
T |
3: 59,117,013 (GRCm39) |
V255D |
possibly damaging |
Het |
Peak1 |
C |
T |
9: 56,165,214 (GRCm39) |
E905K |
probably damaging |
Het |
Picalm |
C |
A |
7: 89,843,499 (GRCm39) |
Q550K |
probably benign |
Het |
Rnf103 |
T |
A |
6: 71,487,289 (GRCm39) |
V640E |
possibly damaging |
Het |
Sec31b |
T |
G |
19: 44,507,379 (GRCm39) |
K817N |
possibly damaging |
Het |
Shisal2a |
A |
T |
4: 108,225,098 (GRCm39) |
C155S |
probably benign |
Het |
Skint2 |
C |
A |
4: 112,483,223 (GRCm39) |
H209Q |
probably benign |
Het |
Skint5 |
T |
C |
4: 113,798,005 (GRCm39) |
S193G |
probably damaging |
Het |
Tacr3 |
A |
G |
3: 134,635,852 (GRCm39) |
|
probably benign |
Het |
Tek |
A |
G |
4: 94,753,680 (GRCm39) |
M1041V |
possibly damaging |
Het |
Tm4sf1 |
A |
G |
3: 57,200,436 (GRCm39) |
S89P |
possibly damaging |
Het |
Tusc3 |
T |
A |
8: 39,597,931 (GRCm39) |
N299K |
possibly damaging |
Het |
Washc4 |
T |
C |
10: 83,400,327 (GRCm39) |
S418P |
probably benign |
Het |
|
Other mutations in Necab1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00429:Necab1
|
APN |
4 |
15,052,656 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01314:Necab1
|
APN |
4 |
15,005,079 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01751:Necab1
|
APN |
4 |
14,978,171 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02098:Necab1
|
APN |
4 |
14,955,892 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL02381:Necab1
|
APN |
4 |
15,148,812 (GRCm39) |
splice site |
probably null |
|
R0095:Necab1
|
UTSW |
4 |
14,960,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0095:Necab1
|
UTSW |
4 |
14,960,027 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0321:Necab1
|
UTSW |
4 |
14,960,083 (GRCm39) |
missense |
probably damaging |
0.99 |
R0698:Necab1
|
UTSW |
4 |
15,005,041 (GRCm39) |
missense |
probably benign |
0.26 |
R1125:Necab1
|
UTSW |
4 |
15,111,257 (GRCm39) |
missense |
probably damaging |
1.00 |
R1251:Necab1
|
UTSW |
4 |
15,111,192 (GRCm39) |
critical splice donor site |
probably null |
|
R1400:Necab1
|
UTSW |
4 |
14,975,185 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1505:Necab1
|
UTSW |
4 |
14,960,047 (GRCm39) |
missense |
probably benign |
0.26 |
R1771:Necab1
|
UTSW |
4 |
15,111,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R1776:Necab1
|
UTSW |
4 |
15,111,267 (GRCm39) |
missense |
probably damaging |
1.00 |
R2080:Necab1
|
UTSW |
4 |
15,140,219 (GRCm39) |
splice site |
probably benign |
|
R4705:Necab1
|
UTSW |
4 |
15,052,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R4780:Necab1
|
UTSW |
4 |
14,989,248 (GRCm39) |
missense |
probably benign |
0.18 |
R4795:Necab1
|
UTSW |
4 |
15,111,208 (GRCm39) |
missense |
possibly damaging |
0.84 |
R4972:Necab1
|
UTSW |
4 |
14,978,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R5009:Necab1
|
UTSW |
4 |
14,947,503 (GRCm39) |
unclassified |
probably benign |
|
R6102:Necab1
|
UTSW |
4 |
14,989,211 (GRCm39) |
missense |
probably benign |
0.05 |
R6968:Necab1
|
UTSW |
4 |
14,957,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7458:Necab1
|
UTSW |
4 |
15,111,244 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8130:Necab1
|
UTSW |
4 |
15,005,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |