Incidental Mutation 'R1125:Necab1'
| ID |
96031 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Necab1
|
| Ensembl Gene |
ENSMUSG00000040536 |
| Gene Name |
N-terminal EF-hand calcium binding protein 1 |
| Synonyms |
NECAB1, STIP-1, Efcbp1, 1700003H21Rik |
| MMRRC Submission |
039198-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.103)
|
| Stock # |
R1125 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
14952245-15149794 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 15111257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 57
(D57V)
|
| 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: D57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038165
Gene: ENSMUSG00000040536
AA Change: D57V
| 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: D57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000103908
Gene: ENSMUSG00000040536
AA Change: D57V
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141105
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
| Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,344 (GRCm39) |
V282A |
probably benign |
Het |
| Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,286,046 (GRCm39) |
I172V |
probably benign |
Het |
| Cimip2b |
A |
G |
4: 43,427,550 (GRCm39) |
I258T |
probably damaging |
Het |
| Ctns |
C |
A |
11: 73,078,663 (GRCm39) |
|
probably null |
Het |
| Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
| Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
| Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
| Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
| Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,015,335 (GRCm39) |
L92P |
probably damaging |
Het |
| Ttll10 |
A |
G |
4: 156,119,495 (GRCm39) |
S664P |
possibly damaging |
Het |
| Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCCTAAACAAGCAGTGCATCTCTG -3'
(R):5'- AGGCCATACACCAGTGCATGTTTC -3'
Sequencing Primer
(F):5'- GGTATCCACATGCCAAGTAAATG -3'
(R):5'- GACATTGCAAAGGTTTCCTTCTTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation