Incidental Mutation 'IGL01774:Catip'
ID |
154045 |
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 # |
IGL01774
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
74401272-74408482 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 74407642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 325
(R325S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141181
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097697]
[ENSMUST00000128445]
[ENSMUST00000191010]
|
AlphaFold |
B9EKE5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000097697
AA Change: R306S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095303 Gene: ENSMUSG00000073650 AA Change: R306S
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 benign
Transcript: ENSMUST00000128445
|
SMART Domains |
Protein: ENSMUSP00000117442 Gene: ENSMUSG00000073650
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: R325S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000141181 Gene: ENSMUSG00000073650 AA Change: R325S
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,077,058 (GRCm39) |
D708G |
probably damaging |
Het |
Abca16 |
T |
C |
7: 120,021,024 (GRCm39) |
|
probably benign |
Het |
Abcc5 |
T |
C |
16: 20,197,207 (GRCm39) |
D674G |
probably damaging |
Het |
Abr |
A |
G |
11: 76,355,125 (GRCm39) |
|
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,619,363 (GRCm39) |
I4T |
possibly damaging |
Het |
Btla |
A |
G |
16: 45,070,911 (GRCm39) |
N290S |
possibly damaging |
Het |
Cep120 |
A |
G |
18: 53,839,902 (GRCm39) |
L786P |
possibly damaging |
Het |
Cnot8 |
A |
G |
11: 58,006,133 (GRCm39) |
I221V |
probably benign |
Het |
Eloc |
A |
T |
1: 16,716,013 (GRCm39) |
D37E |
probably benign |
Het |
Fabp12 |
A |
C |
3: 10,312,754 (GRCm39) |
N89K |
probably benign |
Het |
Ficd |
G |
T |
5: 113,877,073 (GRCm39) |
R416L |
probably damaging |
Het |
Frmd3 |
T |
C |
4: 74,106,075 (GRCm39) |
Y574H |
probably damaging |
Het |
Frmd4a |
T |
C |
2: 4,540,047 (GRCm39) |
|
probably benign |
Het |
Gatc |
G |
A |
5: 115,479,076 (GRCm39) |
Q45* |
probably null |
Het |
Gm5414 |
T |
C |
15: 101,535,410 (GRCm39) |
D225G |
probably benign |
Het |
Itpkc |
G |
T |
7: 26,911,795 (GRCm39) |
A592E |
probably benign |
Het |
Kl |
G |
T |
5: 150,911,948 (GRCm39) |
V566L |
probably benign |
Het |
Lpin1 |
T |
A |
12: 16,608,477 (GRCm39) |
D545V |
probably damaging |
Het |
Mtcl1 |
T |
C |
17: 66,692,880 (GRCm39) |
Y483C |
probably damaging |
Het |
Neb |
C |
T |
2: 52,112,982 (GRCm39) |
W67* |
probably null |
Het |
Nrarp |
T |
C |
2: 25,071,298 (GRCm39) |
V59A |
possibly damaging |
Het |
Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
Or52n20 |
T |
C |
7: 104,320,149 (GRCm39) |
I80T |
probably benign |
Het |
Pacs2 |
T |
A |
12: 113,020,462 (GRCm39) |
H278Q |
probably benign |
Het |
Pot1a |
T |
C |
6: 25,753,276 (GRCm39) |
K420R |
probably benign |
Het |
Rag2 |
A |
G |
2: 101,460,392 (GRCm39) |
Y234C |
probably damaging |
Het |
Ralgds |
C |
T |
2: 28,440,554 (GRCm39) |
Q88* |
probably null |
Het |
Rictor |
T |
C |
15: 6,799,258 (GRCm39) |
S365P |
probably damaging |
Het |
Slco1a1 |
G |
A |
6: 141,871,339 (GRCm39) |
Q276* |
probably null |
Het |
Tas2r134 |
C |
T |
2: 51,518,160 (GRCm39) |
T213I |
probably benign |
Het |
Tecpr1 |
A |
G |
5: 144,148,358 (GRCm39) |
I349T |
probably damaging |
Het |
Tnxb |
T |
C |
17: 34,907,813 (GRCm39) |
S1286P |
probably damaging |
Het |
Trafd1 |
A |
G |
5: 121,513,113 (GRCm39) |
V375A |
possibly damaging |
Het |
Vmn2r110 |
T |
A |
17: 20,803,889 (GRCm39) |
I229L |
probably benign |
Het |
Vnn1 |
T |
C |
10: 23,776,608 (GRCm39) |
Y320H |
probably benign |
Het |
Zfp990 |
T |
C |
4: 145,263,518 (GRCm39) |
V172A |
probably benign |
Het |
|
Other mutations in Catip |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01546:Catip
|
APN |
1 |
74,401,954 (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 |
2014-02-04 |