Incidental Mutation 'IGL00331:Cimip2b'
| ID |
332281 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Cimip2b
|
| Ensembl Gene |
ENSMUSG00000042788 |
| Gene Name |
ciliary microtubule inner protein 2B |
| Synonyms |
Fam166b, 4833436C18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL00331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43427019-43429134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43428158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 100
(R100W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103562
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000149676]
[ENSMUST00000171134]
[ENSMUST00000131668]
[ENSMUST00000173682]
|
| AlphaFold |
A2AIP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035645
|
| SMART Domains |
Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
RUN
|
1109 |
1177 |
3.66e-21 |
SMART |
|
low complexity region
|
1235 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1289 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1341 |
N/A |
INTRINSIC |
|
SH3
|
1457 |
1512 |
7.4e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052829
AA Change: R100W
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788
AA Change: R100W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
15 |
47 |
2.9e-12 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098106
|
| SMART Domains |
Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
RUN
|
1109 |
1177 |
3.66e-21 |
SMART |
|
low complexity region
|
1235 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1289 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1341 |
N/A |
INTRINSIC |
|
SH3
|
1457 |
1512 |
7.4e-11 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107928
AA Change: R100W
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788
AA Change: R100W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
15 |
76 |
1.3e-20 |
PFAM |
|
Pfam:DUF2475
|
212 |
251 |
6.9e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000107929
AA Change: R100W
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788
AA Change: R100W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
15 |
76 |
1.5e-20 |
PFAM |
|
Pfam:DUF2475
|
232 |
271 |
7.7e-10 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123447
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125393
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000149676
AA Change: T25M
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171134
AA Change: R100W
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788
AA Change: R100W
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
15 |
76 |
7.2e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131668
|
| SMART Domains |
Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
617 |
N/A |
INTRINSIC |
|
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
|
RUN
|
1109 |
1177 |
3.66e-21 |
SMART |
|
low complexity region
|
1235 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1289 |
1324 |
N/A |
INTRINSIC |
|
low complexity region
|
1330 |
1341 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173682
|
| SMART Domains |
Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
|
low complexity region
|
685 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
733 |
740 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155080
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aamp |
C |
A |
1: 74,320,595 (GRCm39) |
|
probably benign |
Het |
| Adamts19 |
T |
A |
18: 59,140,397 (GRCm39) |
|
probably benign |
Het |
| Afg3l1 |
T |
A |
8: 124,214,128 (GRCm39) |
F190I |
probably benign |
Het |
| Alms1 |
T |
A |
6: 85,618,353 (GRCm39) |
S2800T |
possibly damaging |
Het |
| Alox5 |
A |
T |
6: 116,392,478 (GRCm39) |
W348R |
probably damaging |
Het |
| Atp13a5 |
G |
A |
16: 29,085,766 (GRCm39) |
Q823* |
probably null |
Het |
| Atp6v1b2 |
T |
C |
8: 69,541,586 (GRCm39) |
|
probably null |
Het |
| Chuk |
T |
C |
19: 44,076,462 (GRCm39) |
I416M |
possibly damaging |
Het |
| Dmbt1 |
A |
T |
7: 130,701,020 (GRCm39) |
Q1066L |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,766 (GRCm39) |
T3873A |
probably damaging |
Het |
| Endog |
C |
T |
2: 30,062,912 (GRCm39) |
T184M |
probably damaging |
Het |
| Fcgbp |
T |
C |
7: 27,800,966 (GRCm39) |
|
probably benign |
Het |
| Flii |
A |
G |
11: 60,606,659 (GRCm39) |
I1061T |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,067 (GRCm39) |
N308K |
probably damaging |
Het |
| Hoxa2 |
T |
G |
6: 52,140,497 (GRCm39) |
Y163S |
probably damaging |
Het |
| Hsd3b7 |
T |
C |
7: 127,402,144 (GRCm39) |
L263P |
probably damaging |
Het |
| Klf17 |
T |
C |
4: 117,618,235 (GRCm39) |
T41A |
probably benign |
Het |
| Lrrfip1 |
T |
C |
1: 90,996,343 (GRCm39) |
M42T |
probably damaging |
Het |
| Mapk8ip1 |
C |
T |
2: 92,215,533 (GRCm39) |
V614I |
probably benign |
Het |
| Mocs1 |
T |
G |
17: 49,742,292 (GRCm39) |
|
probably null |
Het |
| Moxd1 |
T |
C |
10: 24,158,453 (GRCm39) |
|
probably benign |
Het |
| Mterf1a |
T |
C |
5: 3,941,610 (GRCm39) |
E86G |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,574,613 (GRCm39) |
D1021G |
probably benign |
Het |
| Nomo1 |
T |
C |
7: 45,694,760 (GRCm39) |
S212P |
possibly damaging |
Het |
| Or5b116 |
A |
G |
19: 13,422,988 (GRCm39) |
D204G |
probably benign |
Het |
| Or8c15 |
T |
A |
9: 38,120,534 (GRCm39) |
Y60N |
probably damaging |
Het |
| Phf21a |
A |
C |
2: 92,178,374 (GRCm39) |
T385P |
probably damaging |
Het |
| Piwil4 |
A |
T |
9: 14,626,327 (GRCm39) |
|
probably benign |
Het |
| Pknox1 |
T |
C |
17: 31,818,619 (GRCm39) |
|
probably null |
Het |
| Prr14l |
T |
C |
5: 32,988,410 (GRCm39) |
I362V |
probably benign |
Het |
| Sergef |
C |
T |
7: 46,284,844 (GRCm39) |
|
probably null |
Het |
| Sez6l |
T |
C |
5: 112,572,511 (GRCm39) |
D948G |
probably damaging |
Het |
| Skor1 |
A |
T |
9: 63,053,723 (GRCm39) |
L54Q |
probably damaging |
Het |
| Sntn |
C |
T |
14: 13,679,086 (GRCm38) |
Q87* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,720,096 (GRCm39) |
K772E |
possibly damaging |
Het |
| Taf2 |
T |
A |
15: 54,934,845 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
T |
A |
2: 30,030,523 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tmem154 |
T |
C |
3: 84,591,722 (GRCm39) |
F91L |
probably benign |
Het |
| Tmem63a |
A |
G |
1: 180,794,062 (GRCm39) |
D533G |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,782,882 (GRCm39) |
N712K |
possibly damaging |
Het |
| Trip12 |
A |
T |
1: 84,708,262 (GRCm39) |
D603E |
probably damaging |
Het |
| Trmt11 |
T |
C |
10: 30,442,445 (GRCm39) |
D246G |
probably damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,958 (GRCm39) |
M208K |
possibly damaging |
Het |
| Wdr54 |
T |
C |
6: 83,132,755 (GRCm39) |
H33R |
probably benign |
Het |
| Zfp207 |
A |
G |
11: 80,279,828 (GRCm39) |
D111G |
probably benign |
Het |
|
| Other mutations in Cimip2b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00329:Cimip2b
|
APN |
4 |
43,428,158 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00330:Cimip2b
|
APN |
4 |
43,428,158 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00332:Cimip2b
|
APN |
4 |
43,428,158 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00335:Cimip2b
|
APN |
4 |
43,428,158 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL00971:Cimip2b
|
APN |
4 |
43,428,377 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01619:Cimip2b
|
APN |
4 |
43,427,814 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
FR4340:Cimip2b
|
UTSW |
4 |
43,427,384 (GRCm39) |
frame shift |
probably null |
|
|
FR4342:Cimip2b
|
UTSW |
4 |
43,427,384 (GRCm39) |
frame shift |
probably null |
|
|
R0589:Cimip2b
|
UTSW |
4 |
43,427,355 (GRCm39) |
unclassified |
probably benign |
|
|
R1125:Cimip2b
|
UTSW |
4 |
43,427,550 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1937:Cimip2b
|
UTSW |
4 |
43,427,586 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4599:Cimip2b
|
UTSW |
4 |
43,427,574 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4937:Cimip2b
|
UTSW |
4 |
43,427,514 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R5337:Cimip2b
|
UTSW |
4 |
43,427,687 (GRCm39) |
splice site |
probably null |
|
|
R7345:Cimip2b
|
UTSW |
4 |
43,428,022 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7653:Cimip2b
|
UTSW |
4 |
43,427,273 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8418:Cimip2b
|
UTSW |
4 |
43,427,204 (GRCm39) |
missense |
unknown |
|
|
R9594:Cimip2b
|
UTSW |
4 |
43,427,329 (GRCm39) |
missense |
unknown |
|
|
R9665:Cimip2b
|
UTSW |
4 |
43,427,554 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Cimip2b
|
UTSW |
4 |
43,427,172 (GRCm39) |
missense |
|
|
|
Z1176:Cimip2b
|
UTSW |
4 |
43,427,171 (GRCm39) |
missense |
|
|
|
| Posted On |
2015-08-05 |
Incidental Mutation