Incidental Mutation 'IGL00971:Cimip2b'
ID |
27330 |
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 # |
IGL00971
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43427019-43429134 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43428377 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 51
(L51P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103562
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000171134]
[ENSMUST00000149676]
[ENSMUST00000173682]
[ENSMUST00000131668]
|
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 |
probably damaging
Transcript: ENSMUST00000052829
AA Change: L51P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000058980 Gene: ENSMUSG00000042788 AA Change: L51P
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 |
probably damaging
Transcript: ENSMUST00000107928
AA Change: L51P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103561 Gene: ENSMUSG00000042788 AA Change: L51P
Domain | Start | End | E-Value | Type |
Pfam:DUF2475
|
15 |
76 |
1.3e-20 |
PFAM |
Pfam:DUF2475
|
212 |
251 |
6.9e-10 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107929
AA Change: L51P
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000103562 Gene: ENSMUSG00000042788 AA Change: L51P
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 |
possibly damaging
Transcript: ENSMUST00000171134
AA Change: L51P
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000127145 Gene: ENSMUSG00000042788 AA Change: L51P
Domain | Start | End | E-Value | Type |
Pfam:DUF2475
|
15 |
76 |
7.2e-21 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146710
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125393
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155080
|
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: 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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930596D02Rik |
C |
T |
14: 35,532,170 (GRCm39) |
C135Y |
possibly damaging |
Het |
Afdn |
T |
A |
17: 14,072,575 (GRCm39) |
|
probably benign |
Het |
Akap10 |
A |
G |
11: 61,795,622 (GRCm39) |
V347A |
possibly damaging |
Het |
Ankrd11 |
A |
G |
8: 123,622,092 (GRCm39) |
S587P |
probably damaging |
Het |
Ces1g |
T |
C |
8: 94,029,660 (GRCm39) |
Y524C |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,283,219 (GRCm39) |
N3573S |
possibly damaging |
Het |
Cyp1a1 |
G |
T |
9: 57,607,990 (GRCm39) |
C206F |
probably damaging |
Het |
Fbxo30 |
T |
C |
10: 11,166,042 (GRCm39) |
Y255H |
probably benign |
Het |
Ggnbp2 |
T |
C |
11: 84,731,230 (GRCm39) |
I295V |
possibly damaging |
Het |
Gpatch8 |
A |
G |
11: 102,370,743 (GRCm39) |
Y932H |
unknown |
Het |
Gvin-ps3 |
G |
A |
7: 105,681,008 (GRCm39) |
|
noncoding transcript |
Het |
Heatr6 |
C |
T |
11: 83,650,135 (GRCm39) |
P197L |
probably damaging |
Het |
Helb |
T |
C |
10: 119,930,168 (GRCm39) |
D737G |
possibly damaging |
Het |
Helz |
A |
T |
11: 107,554,479 (GRCm39) |
I1226F |
possibly damaging |
Het |
Ipo11 |
A |
T |
13: 106,993,277 (GRCm39) |
I749N |
probably damaging |
Het |
Ipo13 |
T |
C |
4: 117,771,564 (GRCm39) |
E2G |
possibly damaging |
Het |
Jam3 |
A |
C |
9: 27,013,188 (GRCm39) |
D127E |
probably damaging |
Het |
Kif16b |
G |
T |
2: 142,553,664 (GRCm39) |
Q1045K |
probably benign |
Het |
Kin |
T |
C |
2: 10,095,159 (GRCm39) |
W121R |
possibly damaging |
Het |
Man1b1 |
T |
G |
2: 25,233,337 (GRCm39) |
S237A |
possibly damaging |
Het |
Mmel1 |
C |
T |
4: 154,972,289 (GRCm39) |
|
probably benign |
Het |
Morn4 |
T |
C |
19: 42,064,559 (GRCm39) |
N143S |
possibly damaging |
Het |
Nlrp4b |
A |
G |
7: 10,448,882 (GRCm39) |
T362A |
possibly damaging |
Het |
Ntpcr |
C |
T |
8: 126,474,501 (GRCm39) |
T153M |
probably damaging |
Het |
Or13p10 |
T |
A |
4: 118,523,475 (GRCm39) |
F254I |
probably damaging |
Het |
Pdzd2 |
A |
G |
15: 12,374,804 (GRCm39) |
L1777P |
probably benign |
Het |
Postn |
A |
G |
3: 54,276,697 (GRCm39) |
N192S |
possibly damaging |
Het |
Prkar1a |
A |
T |
11: 109,551,877 (GRCm39) |
Y122F |
probably benign |
Het |
Serpinb7 |
A |
G |
1: 107,355,976 (GRCm39) |
|
probably benign |
Het |
Setd3 |
A |
T |
12: 108,126,496 (GRCm39) |
I121N |
probably damaging |
Het |
Slamf7 |
T |
A |
1: 171,466,810 (GRCm39) |
I132L |
probably benign |
Het |
Syt4 |
T |
C |
18: 31,580,227 (GRCm39) |
|
probably benign |
Het |
Tesc |
G |
A |
5: 118,194,504 (GRCm39) |
|
probably null |
Het |
Tsc1 |
C |
A |
2: 28,560,952 (GRCm39) |
S270* |
probably null |
Het |
Wap |
C |
A |
11: 6,586,808 (GRCm39) |
C97F |
probably damaging |
Het |
Zfp451 |
A |
G |
1: 33,822,234 (GRCm39) |
S155P |
probably benign |
Het |
Zfp469 |
A |
G |
8: 122,996,472 (GRCm39) |
|
probably benign |
Het |
Zfp51 |
C |
T |
17: 21,683,844 (GRCm39) |
T153M |
probably benign |
Het |
Zfp579 |
A |
G |
7: 4,996,390 (GRCm39) |
I507T |
probably damaging |
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 |
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 |
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 |
2013-04-17 |