Incidental Mutation 'IGL01546:Catip'
| ID |
90344 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Catip
|
| Ensembl Gene |
ENSMUSG00000073650 |
| Gene Name |
ciliogenesis associated TTC17 interacting protein |
| Synonyms |
LOC241112, Gm216 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
74401272-74408482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74401954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 43
(L43P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097697]
[ENSMUST00000128445]
[ENSMUST00000191010]
|
| AlphaFold |
B9EKE5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097697
AA Change: L24P
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095303
Gene: ENSMUSG00000073650
AA Change: L24P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
67 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
299 |
307 |
N/A |
INTRINSIC |
|
coiled coil region
|
341 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
473 |
499 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000128445
AA Change: L68P
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117442
Gene: ENSMUSG00000073650
AA Change: L68P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
111 |
127 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186688
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191010
AA Change: L43P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: L43P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
326 |
N/A |
INTRINSIC |
|
coiled coil region
|
360 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
492 |
518 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
| Arg2 |
T |
C |
12: 79,196,633 (GRCm39) |
|
probably benign |
Het |
| Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
| Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,471 (GRCm39) |
W295R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
| Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
| Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
| Slx4ip |
A |
G |
2: 136,908,119 (GRCm39) |
T159A |
probably benign |
Het |
| Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
| Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
| Taar8a |
A |
T |
10: 23,952,813 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Vcam1 |
A |
G |
3: 115,909,591 (GRCm39) |
C579R |
possibly damaging |
Het |
| Zdhhc17 |
C |
T |
10: 110,782,054 (GRCm39) |
V547M |
probably damaging |
Het |
|
| Other mutations in Catip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01774:Catip
|
APN |
1 |
74,407,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02532:Catip
|
APN |
1 |
74,403,775 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03117:Catip
|
APN |
1 |
74,403,744 (GRCm39) |
missense |
probably null |
0.02 |
|
R0165:Catip
|
UTSW |
1 |
74,407,628 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0760:Catip
|
UTSW |
1 |
74,402,118 (GRCm39) |
splice site |
probably benign |
|
|
R1384:Catip
|
UTSW |
1 |
74,403,522 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1538:Catip
|
UTSW |
1 |
74,403,811 (GRCm39) |
nonsense |
probably null |
|
|
R1710:Catip
|
UTSW |
1 |
74,401,929 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2255:Catip
|
UTSW |
1 |
74,408,159 (GRCm39) |
unclassified |
probably benign |
|
|
R2323:Catip
|
UTSW |
1 |
74,402,437 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4429:Catip
|
UTSW |
1 |
74,407,891 (GRCm39) |
unclassified |
probably benign |
|
|
R4630:Catip
|
UTSW |
1 |
74,408,072 (GRCm39) |
unclassified |
probably benign |
|
|
R5249:Catip
|
UTSW |
1 |
74,401,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Catip
|
UTSW |
1 |
74,402,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7176:Catip
|
UTSW |
1 |
74,401,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7495:Catip
|
UTSW |
1 |
74,401,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7568:Catip
|
UTSW |
1 |
74,408,089 (GRCm39) |
nonsense |
probably null |
|
|
R7635:Catip
|
UTSW |
1 |
74,408,121 (GRCm39) |
missense |
unknown |
|
|
R8084:Catip
|
UTSW |
1 |
74,403,515 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9104:Catip
|
UTSW |
1 |
74,401,682 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9527:Catip
|
UTSW |
1 |
74,401,637 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9723:Catip
|
UTSW |
1 |
74,403,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Catip
|
UTSW |
1 |
74,406,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-12-03 |
Incidental Mutation