Incidental Mutation 'R6580:Cimap2'
| ID |
524066 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cimap2
|
| Ensembl Gene |
ENSMUSG00000054362 |
| Gene Name |
ciliary microtubule associated protein 2 |
| Synonyms |
BC055111, Lexm |
| MMRRC Submission |
044704-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6580 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
106448106-106474438 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 106468711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 271
(H271N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139868
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067387]
[ENSMUST00000106788]
[ENSMUST00000126324]
[ENSMUST00000189032]
|
| AlphaFold |
A2AVQ5 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067387
AA Change: H271N
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066732
Gene: ENSMUSG00000054362
AA Change: H271N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
63 |
83 |
1.3e-2 |
PFAM |
|
Pfam:SHIPPO-rpt
|
119 |
152 |
3.5e-4 |
PFAM |
|
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
|
Pfam:SHIPPO-rpt
|
205 |
240 |
4.3e-3 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000106788
AA Change: H271N
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102400
Gene: ENSMUSG00000054362
AA Change: H271N
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
62 |
146 |
2.56e-5 |
PROSPERO |
|
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
204 |
279 |
2.56e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126324
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189032
AA Change: H271N
PolyPhen 2
Score 0.731 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139868
Gene: ENSMUSG00000054362
AA Change: H271N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
63 |
83 |
1.3e-2 |
PFAM |
|
Pfam:SHIPPO-rpt
|
119 |
152 |
3.5e-4 |
PFAM |
|
low complexity region
|
157 |
173 |
N/A |
INTRINSIC |
|
Pfam:SHIPPO-rpt
|
205 |
240 |
4.3e-3 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.2%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Heterozygous null mice show decreased CD8-positive, alpha-beta T cell number and decreased cytotoxic T cell cytolysis in response to lymphocytic choriomeningitis virus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
G |
A |
3: 137,772,386 (GRCm39) |
R525H |
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,765,747 (GRCm39) |
L600Q |
probably damaging |
Het |
| Ankrd49 |
A |
G |
9: 14,692,694 (GRCm39) |
S157P |
probably damaging |
Het |
| Ccdc141 |
A |
G |
2: 76,842,099 (GRCm39) |
F1444S |
possibly damaging |
Het |
| Defb28 |
C |
T |
2: 152,360,215 (GRCm39) |
S10L |
possibly damaging |
Het |
| Epha6 |
T |
G |
16: 59,502,979 (GRCm39) |
N976T |
probably damaging |
Het |
| Gm45861 |
A |
G |
8: 28,034,979 (GRCm39) |
K976E |
unknown |
Het |
| Gtf2ird1 |
T |
G |
5: 134,389,893 (GRCm39) |
N920H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,519 (GRCm39) |
M1695K |
probably benign |
Het |
| Hfm1 |
C |
T |
5: 106,995,575 (GRCm39) |
E1279K |
probably benign |
Het |
| Il31ra |
C |
T |
13: 112,688,476 (GRCm39) |
D34N |
possibly damaging |
Het |
| Klhl3 |
T |
A |
13: 58,166,701 (GRCm39) |
I430F |
possibly damaging |
Het |
| Mfhas1 |
A |
G |
8: 36,056,419 (GRCm39) |
Y298C |
probably damaging |
Het |
| Muc20 |
A |
T |
16: 32,613,859 (GRCm39) |
M506K |
possibly damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,581,157 (GRCm39) |
D30V |
probably damaging |
Het |
| Nol9 |
A |
G |
4: 152,136,218 (GRCm39) |
N430S |
probably benign |
Het |
| Or8b44 |
T |
C |
9: 38,410,319 (GRCm39) |
M118T |
probably damaging |
Het |
| Palm3 |
A |
G |
8: 84,756,177 (GRCm39) |
E563G |
probably damaging |
Het |
| Pcdhga4 |
A |
G |
18: 37,820,370 (GRCm39) |
S640G |
possibly damaging |
Het |
| Pi4ka |
A |
G |
16: 17,168,694 (GRCm39) |
F679L |
probably damaging |
Het |
| Pierce1 |
A |
G |
2: 28,356,062 (GRCm39) |
W74R |
probably damaging |
Het |
| Polr3c |
A |
G |
3: 96,634,659 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,732,925 (GRCm39) |
I236N |
probably damaging |
Het |
| Rapgef1 |
A |
G |
2: 29,620,621 (GRCm39) |
Y879C |
possibly damaging |
Het |
| Shc3 |
T |
C |
13: 51,596,809 (GRCm39) |
T405A |
probably benign |
Het |
| Smtnl2 |
G |
T |
11: 72,293,859 (GRCm39) |
S232R |
probably benign |
Het |
| Taar8a |
G |
A |
10: 23,952,791 (GRCm39) |
A132T |
probably damaging |
Het |
| Tex47 |
T |
C |
5: 7,355,212 (GRCm39) |
I131T |
probably damaging |
Het |
| Tiam2 |
CGGG |
CGGGG |
17: 3,464,897 (GRCm39) |
|
probably null |
Het |
| Vmn1r63 |
A |
G |
7: 5,805,913 (GRCm39) |
S240P |
probably benign |
Het |
| Vmn2r130 |
T |
C |
17: 23,282,740 (GRCm39) |
V140A |
probably benign |
Het |
| Vmn2r84 |
A |
G |
10: 130,225,110 (GRCm39) |
W467R |
possibly damaging |
Het |
| Zscan12 |
T |
C |
13: 21,553,328 (GRCm39) |
L384P |
probably damaging |
Het |
|
| Other mutations in Cimap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02576:Cimap2
|
APN |
4 |
106,448,825 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02583:Cimap2
|
APN |
4 |
106,468,602 (GRCm39) |
splice site |
probably benign |
|
|
IGL03329:Cimap2
|
APN |
4 |
106,464,601 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0294:Cimap2
|
UTSW |
4 |
106,470,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1875:Cimap2
|
UTSW |
4 |
106,470,453 (GRCm39) |
splice site |
probably benign |
|
|
R2960:Cimap2
|
UTSW |
4 |
106,470,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4654:Cimap2
|
UTSW |
4 |
106,467,612 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4836:Cimap2
|
UTSW |
4 |
106,467,724 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5436:Cimap2
|
UTSW |
4 |
106,467,690 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6086:Cimap2
|
UTSW |
4 |
106,470,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6952:Cimap2
|
UTSW |
4 |
106,467,596 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7995:Cimap2
|
UTSW |
4 |
106,473,112 (GRCm39) |
missense |
probably benign |
0.33 |
|
R8118:Cimap2
|
UTSW |
4 |
106,470,595 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8258:Cimap2
|
UTSW |
4 |
106,448,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Cimap2
|
UTSW |
4 |
106,472,634 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Cimap2
|
UTSW |
4 |
106,464,497 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGATCATGGCTGCAATAACAG -3'
(R):5'- GTTAGTGAACCTGCGATCCC -3'
Sequencing Primer
(F):5'- GCTGCAATAACAGACGCAG -3'
(R):5'- TGAACCTGCGATCCCTGGTAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation