Incidental Mutation 'R3910:Cimip3'
ID |
309355 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cimip3
|
Ensembl Gene |
ENSMUSG00000047150 |
Gene Name |
ciliary microtubule inner protein 3 |
Synonyms |
1700001C19Rik |
MMRRC Submission |
040815-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.048)
|
Stock # |
R3910 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
47723659-47748301 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
AC to A
at 47744348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000120133
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037701]
[ENSMUST00000061885]
[ENSMUST00000150819]
|
AlphaFold |
Q8K168 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037701
|
SMART Domains |
Protein: ENSMUSP00000045345 Gene: ENSMUSG00000034382
Domain | Start | End | E-Value | Type |
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
low complexity region
|
157 |
180 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000061885
|
SMART Domains |
Protein: ENSMUSP00000050873 Gene: ENSMUSG00000047150
Domain | Start | End | E-Value | Type |
low complexity region
|
74 |
86 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000150819
|
SMART Domains |
Protein: ENSMUSP00000120133 Gene: ENSMUSG00000034382
Domain | Start | End | E-Value | Type |
low complexity region
|
140 |
151 |
N/A |
INTRINSIC |
low complexity region
|
157 |
237 |
N/A |
INTRINSIC |
low complexity region
|
294 |
312 |
N/A |
INTRINSIC |
low complexity region
|
314 |
325 |
N/A |
INTRINSIC |
low complexity region
|
354 |
364 |
N/A |
INTRINSIC |
low complexity region
|
384 |
423 |
N/A |
INTRINSIC |
low complexity region
|
429 |
444 |
N/A |
INTRINSIC |
low complexity region
|
522 |
535 |
N/A |
INTRINSIC |
low complexity region
|
612 |
627 |
N/A |
INTRINSIC |
internal_repeat_1
|
628 |
654 |
6.24e-9 |
PROSPERO |
low complexity region
|
656 |
671 |
N/A |
INTRINSIC |
internal_repeat_1
|
688 |
714 |
6.24e-9 |
PROSPERO |
low complexity region
|
853 |
863 |
N/A |
INTRINSIC |
low complexity region
|
976 |
1016 |
N/A |
INTRINSIC |
low complexity region
|
1147 |
1154 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160678
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bod1l |
T |
C |
5: 41,974,441 (GRCm39) |
E2291G |
probably damaging |
Het |
Cchcr1 |
T |
C |
17: 35,836,233 (GRCm39) |
V341A |
probably damaging |
Het |
Dsg1c |
T |
C |
18: 20,399,253 (GRCm39) |
V119A |
possibly damaging |
Het |
Fap |
A |
G |
2: 62,386,448 (GRCm39) |
S58P |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,459,426 (GRCm39) |
T2509S |
probably damaging |
Het |
Fnip2 |
A |
T |
3: 79,386,812 (GRCm39) |
D971E |
possibly damaging |
Het |
Gab2 |
A |
G |
7: 96,948,280 (GRCm39) |
Y290C |
probably damaging |
Het |
Gm7104 |
C |
T |
12: 88,251,364 (GRCm39) |
|
noncoding transcript |
Het |
Ints10 |
T |
A |
8: 69,266,272 (GRCm39) |
S478T |
probably damaging |
Het |
Iqca1l |
A |
T |
5: 24,750,440 (GRCm39) |
|
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt90 |
G |
A |
15: 101,471,218 (GRCm39) |
R15W |
probably damaging |
Het |
Lgr5 |
A |
G |
10: 115,423,368 (GRCm39) |
S11P |
possibly damaging |
Het |
Mycn |
T |
A |
12: 12,987,281 (GRCm39) |
N372I |
probably damaging |
Het |
Or2ag18 |
A |
T |
7: 106,405,072 (GRCm39) |
V199D |
probably damaging |
Het |
Or9a2 |
A |
G |
6: 41,749,083 (GRCm39) |
V50A |
probably benign |
Het |
Paxbp1 |
T |
A |
16: 90,839,569 (GRCm39) |
E117V |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,637,351 (GRCm39) |
|
probably null |
Het |
Prr5 |
T |
A |
15: 84,587,345 (GRCm39) |
V365E |
probably benign |
Het |
Rev3l |
A |
G |
10: 39,696,552 (GRCm39) |
I521M |
probably damaging |
Het |
Robo3 |
A |
T |
9: 37,330,591 (GRCm39) |
Y1002N |
probably damaging |
Het |
Svep1 |
A |
T |
4: 58,145,156 (GRCm39) |
|
probably null |
Het |
Thsd7a |
A |
G |
6: 12,331,548 (GRCm39) |
V1342A |
probably damaging |
Het |
Tmtc3 |
A |
C |
10: 100,284,888 (GRCm39) |
N582K |
probably damaging |
Het |
Tnfrsf11b |
G |
A |
15: 54,119,578 (GRCm39) |
|
probably benign |
Het |
Trim30a |
A |
G |
7: 104,060,348 (GRCm39) |
V476A |
probably damaging |
Het |
Ugt1a8 |
A |
G |
1: 88,015,770 (GRCm39) |
E61G |
possibly damaging |
Het |
Vmn1r75 |
A |
T |
7: 11,614,757 (GRCm39) |
N163I |
possibly damaging |
Het |
Vps35l |
A |
G |
7: 118,345,613 (GRCm39) |
T49A |
possibly damaging |
Het |
Zfp119a |
G |
A |
17: 56,173,520 (GRCm39) |
L108F |
probably benign |
Het |
|
Other mutations in Cimip3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0675:Cimip3
|
UTSW |
17 |
47,724,701 (GRCm39) |
missense |
probably benign |
0.25 |
R1529:Cimip3
|
UTSW |
17 |
47,724,815 (GRCm39) |
missense |
probably benign |
0.11 |
R2256:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R2257:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R2512:Cimip3
|
UTSW |
17 |
47,724,651 (GRCm39) |
missense |
probably benign |
|
R2883:Cimip3
|
UTSW |
17 |
47,747,650 (GRCm39) |
missense |
probably damaging |
0.99 |
R3498:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R3499:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R3834:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R3835:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R3901:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R3911:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R3913:Cimip3
|
UTSW |
17 |
47,744,348 (GRCm39) |
unclassified |
probably benign |
|
R4191:Cimip3
|
UTSW |
17 |
47,747,562 (GRCm39) |
missense |
probably damaging |
0.99 |
R4280:Cimip3
|
UTSW |
17 |
47,724,780 (GRCm39) |
missense |
probably benign |
0.02 |
R7054:Cimip3
|
UTSW |
17 |
47,748,114 (GRCm39) |
critical splice donor site |
probably null |
|
R8008:Cimip3
|
UTSW |
17 |
47,747,661 (GRCm39) |
missense |
probably damaging |
0.98 |
Z1176:Cimip3
|
UTSW |
17 |
47,724,659 (GRCm39) |
missense |
probably benign |
0.44 |
|
Predicted Primers |
PCR Primer
(F):5'- GGATTGTCTTTTAGAACAACCCTCC -3'
(R):5'- AGTTATCATGCAGTAGCCCC -3'
Sequencing Primer
(F):5'- ACTGTAGCTCCGTGTAGAACC -3'
(R):5'- GTAGCCCCCGTCCCTATTAAAATAG -3'
|
Posted On |
2015-04-17 |