Incidental Mutation 'IGL01751:Necab1'
| ID |
153136 |
| 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: 0.103)
|
| Stock # |
IGL01751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
14952245-15149794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14978171 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 226
(D226G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103908
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041606]
[ENSMUST00000108273]
|
| AlphaFold |
Q8BG18 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041606
AA Change: D226G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: D226G
| 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 damaging
Transcript: ENSMUST00000108273
AA Change: D226G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: D226G
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
A |
G |
5: 144,979,981 (GRCm39) |
|
probably null |
Het |
| Abtb3 |
C |
A |
10: 85,490,366 (GRCm39) |
Q1011K |
probably damaging |
Het |
| Aoc1l2 |
A |
T |
6: 48,907,522 (GRCm39) |
H174L |
possibly damaging |
Het |
| Auts2 |
G |
T |
5: 131,501,198 (GRCm39) |
Q72K |
probably damaging |
Het |
| Ccdc7b |
A |
T |
8: 129,863,049 (GRCm39) |
|
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,342,372 (GRCm39) |
E1555G |
probably benign |
Het |
| Gm5263 |
T |
G |
1: 146,296,302 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5828 |
A |
G |
1: 16,840,208 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6605 |
T |
C |
7: 38,147,630 (GRCm39) |
|
noncoding transcript |
Het |
| Gvin3 |
T |
A |
7: 106,201,516 (GRCm39) |
N576I |
possibly damaging |
Het |
| Hps3 |
T |
C |
3: 20,065,130 (GRCm39) |
D638G |
probably damaging |
Het |
| Igdcc4 |
A |
T |
9: 65,039,014 (GRCm39) |
N887I |
probably damaging |
Het |
| Itpkc |
G |
A |
7: 26,912,491 (GRCm39) |
|
probably benign |
Het |
| Mfge8 |
A |
G |
7: 78,786,403 (GRCm39) |
|
probably null |
Het |
| Mrc2 |
G |
T |
11: 105,216,560 (GRCm39) |
L116F |
probably benign |
Het |
| Neurod2 |
T |
C |
11: 98,218,201 (GRCm39) |
E321G |
possibly damaging |
Het |
| Obp2b |
G |
T |
2: 25,627,760 (GRCm39) |
V59L |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,465,811 (GRCm39) |
N65S |
possibly damaging |
Het |
| Or14c39 |
A |
T |
7: 86,343,997 (GRCm39) |
Q111L |
probably benign |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or5d43 |
A |
T |
2: 88,104,977 (GRCm39) |
C139S |
possibly damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,809 (GRCm39) |
P79S |
probably damaging |
Het |
| Rock1 |
A |
G |
18: 10,079,113 (GRCm39) |
|
probably null |
Het |
| Scn3a |
T |
A |
2: 65,291,596 (GRCm39) |
M1717L |
possibly damaging |
Het |
| Smg7 |
T |
C |
1: 152,719,812 (GRCm39) |
D903G |
possibly damaging |
Het |
| Tlr1 |
A |
T |
5: 65,083,290 (GRCm39) |
L429* |
probably null |
Het |
| Ttll9 |
A |
T |
2: 152,825,025 (GRCm39) |
N68I |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,567,943 (GRCm39) |
V25904A |
possibly damaging |
Het |
| Uaca |
G |
A |
9: 60,777,139 (GRCm39) |
V507M |
probably damaging |
Het |
| Vmn1r195 |
G |
T |
13: 22,463,421 (GRCm39) |
C297F |
probably benign |
Het |
| Zdhhc2 |
G |
A |
8: 40,926,042 (GRCm39) |
A346T |
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 |
|
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 |
|
|
IGL03247:Necab1
|
APN |
4 |
14,960,046 (GRCm39) |
missense |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation