Incidental Mutation 'R7495:Catip'
| ID |
581018 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Catip
|
| Ensembl Gene |
ENSMUSG00000073650 |
| Gene Name |
ciliogenesis associated TTC17 interacting protein |
| Synonyms |
LOC241112, Gm216 |
| MMRRC Submission |
045568-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7495 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
74401272-74408482 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74401851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 9
(W9R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141181
(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
|
| 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 |
probably benign
Transcript: ENSMUST00000191010
AA Change: W9R
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000141181
Gene: ENSMUSG00000073650
AA Change: W9R
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
A |
G |
5: 8,915,871 (GRCm39) |
E1251G |
probably damaging |
Het |
| Apba1 |
T |
C |
19: 23,913,963 (GRCm39) |
|
probably null |
Het |
| Arap2 |
C |
T |
5: 62,833,893 (GRCm39) |
S858N |
possibly damaging |
Het |
| Capn10 |
T |
C |
1: 92,871,092 (GRCm39) |
F301L |
probably damaging |
Het |
| Cfap46 |
A |
G |
7: 139,183,112 (GRCm39) |
|
probably null |
Het |
| Cpq |
C |
T |
15: 33,302,586 (GRCm39) |
R246C |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,816,239 (GRCm39) |
S1067P |
probably benign |
Het |
| Dpp3 |
T |
C |
19: 4,967,941 (GRCm39) |
E316G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,502,044 (GRCm39) |
Q508R |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,424,258 (GRCm39) |
N3060D |
probably benign |
Het |
| Fstl5 |
A |
G |
3: 76,615,099 (GRCm39) |
Y720C |
possibly damaging |
Het |
| Gm28168 |
T |
C |
1: 117,875,637 (GRCm39) |
S89P |
possibly damaging |
Het |
| Hk2 |
C |
T |
6: 82,704,346 (GRCm39) |
G900E |
probably damaging |
Het |
| Hrh1 |
A |
C |
6: 114,457,634 (GRCm39) |
D305A |
probably benign |
Het |
| Htt |
C |
T |
5: 34,968,821 (GRCm39) |
S435L |
probably benign |
Het |
| Ice2 |
G |
T |
9: 69,323,511 (GRCm39) |
V669L |
probably benign |
Het |
| Klk1b27 |
G |
A |
7: 43,705,500 (GRCm39) |
V191I |
probably benign |
Het |
| Med12l |
A |
G |
3: 59,152,194 (GRCm39) |
K993R |
probably damaging |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,622 (GRCm39) |
Y536H |
probably damaging |
Het |
| Nr4a2 |
T |
C |
2: 57,002,171 (GRCm39) |
D94G |
possibly damaging |
Het |
| Oit3 |
T |
C |
10: 59,259,765 (GRCm39) |
D546G |
possibly damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,813,837 (GRCm39) |
T847A |
probably damaging |
Het |
| Pde12 |
A |
T |
14: 26,389,994 (GRCm39) |
N238K |
probably benign |
Het |
| Pfkfb3 |
A |
C |
2: 11,487,312 (GRCm39) |
I366S |
probably damaging |
Het |
| Ptma |
GGAAGAAG |
GGAAGAAGAAG |
1: 86,457,261 (GRCm39) |
|
probably benign |
Het |
| Ptprb |
C |
A |
10: 116,177,353 (GRCm39) |
Q1018K |
probably benign |
Het |
| Rxfp3 |
C |
A |
15: 11,036,011 (GRCm39) |
G454C |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,372,200 (GRCm39) |
V223A |
probably damaging |
Het |
| Sema4c |
C |
A |
1: 36,589,774 (GRCm39) |
V527L |
probably benign |
Het |
| Slk |
C |
A |
19: 47,627,417 (GRCm39) |
P1182T |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,659,235 (GRCm39) |
V368A |
probably benign |
Het |
| Trpm3 |
T |
C |
19: 22,875,160 (GRCm39) |
F601L |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,299 (GRCm39) |
D34229G |
probably benign |
Het |
| Vmn2r107 |
A |
G |
17: 20,595,271 (GRCm39) |
H608R |
possibly damaging |
Het |
| Vmn2r49 |
A |
T |
7: 9,710,826 (GRCm39) |
C635* |
probably null |
Het |
| Zfp473 |
A |
T |
7: 44,387,368 (GRCm39) |
F95Y |
probably benign |
Het |
| Zfp984 |
A |
C |
4: 147,839,287 (GRCm39) |
S521R |
possibly 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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCAACTCCTTCTGTGAGCCAG -3'
(R):5'- AGGATCCCTATGTCGTCCTTG -3'
Sequencing Primer
(F):5'- TGGGGAGGAGAGGTACAAGTCTC -3'
(R):5'- GGATCCCTATGTCGTCCTTGTACTTC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation