Incidental Mutation 'R0698:Necab1'
ID |
62900 |
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 |
038882-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.103)
|
Stock # |
R0698 (G1)
|
Quality Score |
134 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
14952245-15149794 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 15005041 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 141
(N141S)
|
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: N141S
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000038165 Gene: ENSMUSG00000040536 AA Change: N141S
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: N141S
PolyPhen 2
Score 0.259 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000103908 Gene: ENSMUSG00000040536 AA Change: N141S
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 |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy5 |
C |
T |
16: 35,110,452 (GRCm39) |
T873M |
possibly damaging |
Het |
Ap4e1 |
G |
A |
2: 126,905,283 (GRCm39) |
E985K |
probably benign |
Het |
Arhgap18 |
T |
C |
10: 26,788,625 (GRCm39) |
I579T |
probably damaging |
Het |
Arhgef11 |
G |
T |
3: 87,640,766 (GRCm39) |
A1308S |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
Atm |
T |
C |
9: 53,426,539 (GRCm39) |
E573G |
probably damaging |
Het |
Baz1b |
T |
C |
5: 135,227,075 (GRCm39) |
V92A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Col6a1 |
A |
G |
10: 76,552,114 (GRCm39) |
V459A |
unknown |
Het |
Cpne4 |
T |
C |
9: 104,802,994 (GRCm39) |
S213P |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,507,895 (GRCm39) |
Q1672L |
probably damaging |
Het |
Grm8 |
C |
T |
6: 27,363,913 (GRCm39) |
C534Y |
probably damaging |
Het |
Ints7 |
A |
G |
1: 191,326,576 (GRCm39) |
M183V |
probably damaging |
Het |
Invs |
T |
G |
4: 48,396,364 (GRCm39) |
S346A |
probably benign |
Het |
Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
Lrrtm4 |
T |
C |
6: 79,999,911 (GRCm39) |
L441P |
probably damaging |
Het |
Map4 |
C |
T |
9: 109,897,856 (GRCm39) |
R81* |
probably null |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Pcdhb2 |
A |
T |
18: 37,430,419 (GRCm39) |
E797D |
probably benign |
Het |
Pclo |
T |
C |
5: 14,762,530 (GRCm39) |
Y3668H |
unknown |
Het |
Peg10 |
T |
A |
6: 4,756,835 (GRCm39) |
|
probably benign |
Het |
Psd2 |
A |
G |
18: 36,145,764 (GRCm39) |
I723V |
probably benign |
Het |
Ptprn2 |
C |
T |
12: 116,685,750 (GRCm39) |
R70* |
probably null |
Het |
R3hdm1 |
A |
G |
1: 128,109,476 (GRCm39) |
Y309C |
probably damaging |
Het |
Rab13 |
C |
T |
3: 90,132,043 (GRCm39) |
T69M |
probably damaging |
Het |
Rpl32 |
T |
C |
6: 115,782,551 (GRCm39) |
N126S |
probably benign |
Het |
Sis |
C |
A |
3: 72,817,831 (GRCm39) |
A1461S |
probably damaging |
Het |
Slc2a13 |
T |
C |
15: 91,205,870 (GRCm39) |
D439G |
probably benign |
Het |
Spta1 |
T |
C |
1: 174,008,670 (GRCm39) |
L258P |
probably damaging |
Het |
Synj1 |
T |
C |
16: 90,757,503 (GRCm39) |
T882A |
probably benign |
Het |
Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
Tada3 |
A |
T |
6: 113,343,968 (GRCm39) |
L227Q |
probably damaging |
Het |
Tet2 |
A |
T |
3: 133,173,145 (GRCm39) |
S1706T |
probably benign |
Het |
Ttc6 |
G |
A |
12: 57,720,002 (GRCm39) |
V858I |
probably benign |
Het |
Tut4 |
T |
A |
4: 108,412,730 (GRCm39) |
M1477K |
probably benign |
Het |
Vps13c |
C |
A |
9: 67,797,005 (GRCm39) |
A464E |
probably benign |
Het |
Zbtb17 |
T |
C |
4: 141,193,407 (GRCm39) |
|
probably null |
Het |
Zcwpw1 |
G |
A |
5: 137,815,783 (GRCm39) |
E429K |
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCGATTTTGAAGACCAGAACATGGG -3'
(R):5'- ATTCGGCCTCTAGCAGGTGGAAAG -3'
Sequencing Primer
(F):5'- GGGATTAAATTCCACTGTGCC -3'
(R):5'- CTCTAGCAGGTGGAAAGTCCTTC -3'
|
Posted On |
2013-07-30 |