Incidental Mutation 'IGL01365:Cttnbp2nl'
| ID |
75913 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cttnbp2nl
|
| Ensembl Gene |
ENSMUSG00000062127 |
| Gene Name |
CTTNBP2 N-terminal like |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.208)
|
| Stock # |
IGL01365
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
104909231-104960462 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 104912346 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 513
(T513A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096359
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077548]
[ENSMUST00000098763]
[ENSMUST00000197437]
|
| AlphaFold |
Q99LJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077548
AA Change: T513A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076751
Gene: ENSMUSG00000062127
AA Change: T513A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
1 |
189 |
1.9e-60 |
PFAM |
|
low complexity region
|
263 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000098763
AA Change: T513A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096359
Gene: ENSMUSG00000062127
AA Change: T513A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
2 |
188 |
8.5e-71 |
PFAM |
|
low complexity region
|
263 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
401 |
434 |
N/A |
INTRINSIC |
|
low complexity region
|
467 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
586 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197437
|
| SMART Domains |
Protein: ENSMUSP00000143282
Gene: ENSMUSG00000062127
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CortBP2
|
1 |
167 |
7.7e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199002
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
| Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
| Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
| CK137956 |
A |
G |
4: 127,845,135 (GRCm39) |
S203P |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
| Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
| Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
| Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
| Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
| Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
| Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
| Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
| Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
| Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
| Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
| Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
| Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
| Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
| Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
| Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
| Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
| Other mutations in Cttnbp2nl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01832:Cttnbp2nl
|
APN |
3 |
104,918,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02070:Cttnbp2nl
|
APN |
3 |
104,918,582 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Cttnbp2nl
|
UTSW |
3 |
104,913,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Cttnbp2nl
|
UTSW |
3 |
104,913,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0132:Cttnbp2nl
|
UTSW |
3 |
104,913,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1919:Cttnbp2nl
|
UTSW |
3 |
104,918,594 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3766:Cttnbp2nl
|
UTSW |
3 |
104,912,117 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3964:Cttnbp2nl
|
UTSW |
3 |
104,913,321 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4509:Cttnbp2nl
|
UTSW |
3 |
104,940,063 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Cttnbp2nl
|
UTSW |
3 |
104,913,191 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4820:Cttnbp2nl
|
UTSW |
3 |
104,918,640 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5233:Cttnbp2nl
|
UTSW |
3 |
104,912,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6230:Cttnbp2nl
|
UTSW |
3 |
104,918,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6385:Cttnbp2nl
|
UTSW |
3 |
104,912,952 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6551:Cttnbp2nl
|
UTSW |
3 |
104,912,433 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6685:Cttnbp2nl
|
UTSW |
3 |
104,912,814 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6883:Cttnbp2nl
|
UTSW |
3 |
104,918,507 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7262:Cttnbp2nl
|
UTSW |
3 |
104,940,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Cttnbp2nl
|
UTSW |
3 |
104,940,046 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7619:Cttnbp2nl
|
UTSW |
3 |
104,912,076 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7978:Cttnbp2nl
|
UTSW |
3 |
104,915,307 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8115:Cttnbp2nl
|
UTSW |
3 |
104,913,402 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0060:Cttnbp2nl
|
UTSW |
3 |
104,912,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-10-07 |
Incidental Mutation