Incidental Mutation 'R1125:Cimip2b'
| ID |
96033 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cimip2b
|
| Ensembl Gene |
ENSMUSG00000042788 |
| Gene Name |
ciliary microtubule inner protein 2B |
| Synonyms |
Fam166b, 4833436C18Rik |
| MMRRC Submission |
039198-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R1125 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43427019-43429134 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43427550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 258
(I258T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058980
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000171134]
[ENSMUST00000131668]
[ENSMUST00000149676]
[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 |
probably damaging
Transcript: ENSMUST00000052829
AA Change: I258T
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000058980
Gene: ENSMUSG00000042788
AA Change: I258T
| 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 |
silent
Transcript: ENSMUST00000107928
|
| SMART Domains |
Protein: ENSMUSP00000103561
Gene: ENSMUSG00000042788
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
15 |
76 |
1.3e-20 |
PFAM |
|
Pfam:DUF2475
|
212 |
251 |
6.9e-10 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000107929
|
| SMART Domains |
Protein: ENSMUSP00000103562
Gene: ENSMUSG00000042788
| 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 |
silent
Transcript: ENSMUST00000171134
|
| SMART Domains |
Protein: ENSMUSP00000127145
Gene: ENSMUSG00000042788
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2475
|
15 |
76 |
7.2e-21 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000155080
AA Change: I41T
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146710
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
| 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: ENSMUST00000149676
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
T |
C |
19: 31,898,378 (GRCm39) |
I254T |
probably benign |
Het |
| Abcb5 |
T |
C |
12: 118,875,282 (GRCm39) |
D630G |
possibly damaging |
Het |
| Anks4b |
T |
G |
7: 119,781,580 (GRCm39) |
F204V |
possibly damaging |
Het |
| Bltp3a |
T |
C |
17: 28,112,423 (GRCm39) |
V1204A |
probably damaging |
Het |
| C87436 |
T |
C |
6: 86,424,344 (GRCm39) |
V282A |
probably benign |
Het |
| Cav3 |
T |
A |
6: 112,449,257 (GRCm39) |
F92I |
probably damaging |
Het |
| Cbs |
A |
T |
17: 31,851,805 (GRCm39) |
V66E |
probably benign |
Het |
| Cd226 |
A |
G |
18: 89,286,046 (GRCm39) |
I172V |
probably benign |
Het |
| Ctns |
C |
A |
11: 73,078,663 (GRCm39) |
|
probably null |
Het |
| Gid4 |
A |
G |
11: 60,315,607 (GRCm39) |
D66G |
possibly damaging |
Het |
| Glra3 |
A |
G |
8: 56,492,789 (GRCm39) |
D163G |
possibly damaging |
Het |
| Lrrc23 |
A |
G |
6: 124,753,145 (GRCm39) |
V167A |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,764,427 (GRCm39) |
L1979* |
probably null |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Necab1 |
T |
A |
4: 15,111,257 (GRCm39) |
D57V |
probably damaging |
Het |
| Or2ag12 |
T |
A |
7: 106,277,214 (GRCm39) |
T160S |
possibly damaging |
Het |
| Plekhd1 |
C |
A |
12: 80,753,998 (GRCm39) |
Q155K |
possibly damaging |
Het |
| Ppara |
A |
G |
15: 85,673,256 (GRCm39) |
N149S |
possibly damaging |
Het |
| Slc30a5 |
C |
T |
13: 100,939,921 (GRCm39) |
V665M |
probably damaging |
Het |
| Sntb1 |
T |
G |
15: 55,612,676 (GRCm39) |
T301P |
probably benign |
Het |
| Tlr5 |
A |
T |
1: 182,801,457 (GRCm39) |
T240S |
probably benign |
Het |
| Ttc5 |
A |
G |
14: 51,015,335 (GRCm39) |
L92P |
probably damaging |
Het |
| Ttll10 |
A |
G |
4: 156,119,495 (GRCm39) |
S664P |
possibly damaging |
Het |
| Vmn2r45 |
G |
A |
7: 8,488,542 (GRCm39) |
R163C |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,717 (GRCm39) |
I231M |
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 |
|
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 |
|
|
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 |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTAAATCCCAGGGTCGGACATC -3'
(R):5'- GTCAGGTTTTATACCACGGGCACAG -3'
Sequencing Primer
(F):5'- AGGGTCGGACATCTCTCC -3'
(R):5'- CACAAGTTCTTCATGTCAGGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation