Incidental Mutation 'IGL00330:Cimip2b'
| ID |
332277 |
| 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 # |
IGL00330
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
T |
G |
1: 192,857,087 (GRCm39) |
D146E |
probably benign |
Het |
| Alpi |
A |
T |
1: 87,027,442 (GRCm39) |
L308Q |
probably damaging |
Het |
| Bhmt2 |
A |
T |
13: 93,803,279 (GRCm39) |
|
probably benign |
Het |
| Bsn |
T |
C |
9: 107,992,539 (GRCm39) |
E1071G |
probably damaging |
Het |
| Car3 |
A |
T |
3: 14,933,439 (GRCm39) |
N128Y |
probably benign |
Het |
| Cdkl2 |
C |
T |
5: 92,165,236 (GRCm39) |
|
probably null |
Het |
| Cul9 |
T |
C |
17: 46,821,767 (GRCm39) |
|
probably benign |
Het |
| Gpr149 |
T |
G |
3: 62,438,094 (GRCm39) |
I688L |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Kif19a |
G |
A |
11: 114,670,411 (GRCm39) |
G107D |
probably damaging |
Het |
| Loxhd1 |
A |
C |
18: 77,483,146 (GRCm39) |
R1242S |
probably damaging |
Het |
| Ms4a6c |
T |
C |
19: 11,455,676 (GRCm39) |
Y162H |
probably benign |
Het |
| Msrb2 |
G |
T |
2: 19,376,510 (GRCm39) |
R6L |
unknown |
Het |
| Myh2 |
A |
G |
11: 67,084,266 (GRCm39) |
N1630D |
probably benign |
Het |
| Myrf |
A |
G |
19: 10,201,877 (GRCm39) |
V200A |
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,119,807 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
T |
A |
8: 32,308,117 (GRCm39) |
Q621L |
probably damaging |
Het |
| Or11h6 |
G |
A |
14: 50,880,625 (GRCm39) |
A296T |
probably benign |
Het |
| Or5bw2 |
A |
T |
7: 6,573,667 (GRCm39) |
I226F |
possibly damaging |
Het |
| Pfkp |
A |
G |
13: 6,669,586 (GRCm39) |
F211S |
probably damaging |
Het |
| Pramex1 |
T |
C |
X: 134,515,258 (GRCm39) |
N273S |
probably benign |
Het |
| Prss1l |
T |
C |
6: 41,371,707 (GRCm39) |
L51P |
probably damaging |
Het |
| Pwwp3b |
A |
G |
X: 138,136,443 (GRCm39) |
D327G |
probably damaging |
Het |
| Rnh1 |
G |
A |
7: 140,746,644 (GRCm39) |
A49V |
possibly damaging |
Het |
| Serhl |
C |
T |
15: 82,988,574 (GRCm39) |
S167F |
probably benign |
Het |
| Skint1 |
T |
C |
4: 111,878,777 (GRCm39) |
|
probably null |
Het |
| Taar7b |
A |
C |
10: 23,876,740 (GRCm39) |
I302L |
probably benign |
Het |
| Tasor2 |
A |
G |
13: 3,624,832 (GRCm39) |
F1706S |
probably benign |
Het |
| Zfp106 |
G |
A |
2: 120,369,978 (GRCm39) |
P15S |
probably benign |
Het |
| Zfp385b |
T |
C |
2: 77,307,122 (GRCm39) |
Q167R |
probably damaging |
Het |
| Zfp800 |
T |
A |
6: 28,243,037 (GRCm39) |
T643S |
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 |
|
IGL00331: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