Incidental Mutation 'R9527:Catip'
ID |
719294 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Catip
|
Ensembl Gene |
ENSMUSG00000073650 |
Gene Name |
ciliogenesis associated TTC17 interacting protein |
Synonyms |
LOC241112, Gm216 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9527 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
74401272-74408482 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 74401637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 38
(N38S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117442
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097697]
[ENSMUST00000128445]
[ENSMUST00000191010]
|
AlphaFold |
B9EKE5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000097697
|
SMART Domains |
Protein: ENSMUSP00000095303 Gene: ENSMUSG00000073650
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
AA Change: N38S
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000117442 Gene: ENSMUSG00000073650 AA Change: N38S
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
low complexity region
|
111 |
127 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000191010
|
SMART Domains |
Protein: ENSMUSP00000141181 Gene: ENSMUSG00000073650
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
A |
G |
2: 127,886,284 (GRCm39) |
D453G |
probably benign |
Het |
Aqr |
A |
C |
2: 113,932,037 (GRCm39) |
S1443R |
probably benign |
Het |
Atr |
T |
C |
9: 95,767,429 (GRCm39) |
M1162T |
probably damaging |
Het |
Bicdl1 |
T |
A |
5: 115,811,188 (GRCm39) |
N241I |
possibly damaging |
Het |
Cct6b |
A |
G |
11: 82,630,447 (GRCm39) |
|
probably null |
Het |
Clspn |
A |
T |
4: 126,453,792 (GRCm39) |
R72* |
probably null |
Het |
Cntln |
A |
G |
4: 84,892,120 (GRCm39) |
Q335R |
probably damaging |
Het |
Col9a2 |
T |
C |
4: 120,899,528 (GRCm39) |
|
probably null |
Het |
Dip2c |
A |
G |
13: 9,544,875 (GRCm39) |
N55D |
unknown |
Het |
Dnajc5b |
A |
T |
3: 19,633,248 (GRCm39) |
D157V |
probably damaging |
Het |
Exoc6 |
T |
G |
19: 37,558,987 (GRCm39) |
D86E |
probably benign |
Het |
Fam204a |
A |
T |
19: 60,208,992 (GRCm39) |
H87Q |
probably damaging |
Het |
Fer1l4 |
A |
G |
2: 155,871,617 (GRCm39) |
W1388R |
probably damaging |
Het |
Hcn2 |
A |
T |
10: 79,570,706 (GRCm39) |
I642F |
probably benign |
Het |
Igsf9 |
C |
A |
1: 172,323,244 (GRCm39) |
L653M |
probably damaging |
Het |
Imp4 |
A |
G |
1: 34,481,991 (GRCm39) |
E38G |
probably benign |
Het |
Kirrel1 |
C |
A |
3: 86,996,912 (GRCm39) |
E297* |
probably null |
Het |
Krt82 |
G |
A |
15: 101,454,558 (GRCm39) |
T222I |
probably benign |
Het |
Lysmd1 |
T |
C |
3: 95,042,156 (GRCm39) |
L10P |
probably benign |
Het |
Mcmbp |
A |
G |
7: 128,305,242 (GRCm39) |
S509P |
probably damaging |
Het |
Mms19 |
A |
T |
19: 41,952,830 (GRCm39) |
I93N |
possibly damaging |
Het |
Mtmr7 |
A |
G |
8: 41,011,345 (GRCm39) |
F402L |
possibly damaging |
Het |
Myo1h |
C |
T |
5: 114,453,098 (GRCm39) |
R49C |
|
Het |
Scd3 |
T |
C |
19: 44,226,816 (GRCm39) |
Y217H |
probably benign |
Het |
Snx17 |
T |
C |
5: 31,353,826 (GRCm39) |
Y205H |
probably damaging |
Het |
Spag17 |
T |
A |
3: 99,970,777 (GRCm39) |
D1320E |
probably damaging |
Het |
Tasor2 |
A |
T |
13: 3,635,191 (GRCm39) |
S539T |
possibly damaging |
Het |
Xirp1 |
C |
A |
9: 119,847,558 (GRCm39) |
V442L |
probably damaging |
Het |
Xrcc5 |
G |
A |
1: 72,369,091 (GRCm39) |
R315H |
probably damaging |
Het |
Yju2b |
A |
T |
8: 84,989,652 (GRCm39) |
C56S |
probably damaging |
Het |
Zc3hav1 |
C |
A |
6: 38,330,913 (GRCm39) |
C82F |
probably damaging |
Het |
Zfp787 |
A |
G |
7: 6,136,027 (GRCm39) |
F75L |
probably damaging |
Het |
Zswim3 |
C |
T |
2: 164,662,285 (GRCm39) |
T255I |
probably damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGGGATCAGAACCAGGTATCC -3'
(R):5'- AGAAGCTGTCTCTCCAGGCC -3'
Sequencing Primer
(F):5'- GGATCAGAACCAGGTATCCCTACC -3'
(R):5'- ACGTCTCCCATCTCCTAACCAG -3'
|
Posted On |
2022-07-18 |