Incidental Mutation 'R4404:Cimap3'
| ID |
326751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cimap3
|
| Ensembl Gene |
ENSMUSG00000010136 |
| Gene Name |
ciliary microtubule associated protein 3 |
| Synonyms |
pitchfork, 1700027A23Rik, Pifo |
| MMRRC Submission |
041133-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R4404 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
105904273-105921962 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 105908684 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 7
(P7L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069454
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000010280]
[ENSMUST00000066319]
|
| AlphaFold |
Q9D9W1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000010280
|
| SMART Domains |
Protein: ENSMUSP00000010280
Gene: ENSMUSG00000010136
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
183 |
209 |
5.2e-6 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066319
AA Change: P7L
PolyPhen 2
Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000069454
Gene: ENSMUSG00000010136
AA Change: P7L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SHIPPO-rpt
|
58 |
96 |
1.9e-2 |
PFAM |
|
Pfam:SHIPPO-rpt
|
144 |
184 |
1.9e-5 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198855
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Heterozygous null embryos generated by tetraploid complementation display embryonic lethality with double outlet heart right ventricle, duplicated cilia and defects in cilia disassembly. A conditional allele activated in limb bub cultures doesn't interfere with cilia development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc188 |
A |
G |
16: 18,036,284 (GRCm39) |
Q153R |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,404,866 (GRCm39) |
L1721* |
probably null |
Het |
| Fcsk |
T |
A |
8: 111,616,933 (GRCm39) |
T406S |
probably benign |
Het |
| Fer |
A |
T |
17: 64,248,284 (GRCm39) |
|
probably null |
Het |
| Gprc6a |
T |
C |
10: 51,504,639 (GRCm39) |
I68M |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,489 (GRCm39) |
|
probably null |
Het |
| Gtf3c4 |
T |
C |
2: 28,716,761 (GRCm39) |
D813G |
probably damaging |
Het |
| Hars2 |
G |
T |
18: 36,918,989 (GRCm39) |
C83F |
probably damaging |
Het |
| Htr6 |
A |
G |
4: 138,789,513 (GRCm39) |
S251P |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,236,972 (GRCm39) |
T1070A |
probably benign |
Het |
| Il22ra1 |
A |
T |
4: 135,464,742 (GRCm39) |
E149D |
possibly damaging |
Het |
| Lama3 |
G |
A |
18: 12,715,588 (GRCm39) |
M1681I |
probably benign |
Het |
| Loxhd1 |
G |
A |
18: 77,518,828 (GRCm39) |
G1878D |
probably damaging |
Het |
| Mcc |
G |
A |
18: 44,892,365 (GRCm39) |
T83M |
probably benign |
Het |
| Nol11 |
A |
T |
11: 107,064,551 (GRCm39) |
C468S |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Npy5r |
C |
T |
8: 67,134,644 (GRCm39) |
V50I |
probably benign |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Pam |
T |
C |
1: 97,782,446 (GRCm39) |
|
probably benign |
Het |
| Pank4 |
C |
T |
4: 155,064,613 (GRCm39) |
T724I |
probably benign |
Het |
| Pramel34 |
T |
A |
5: 93,785,572 (GRCm39) |
H236L |
possibly damaging |
Het |
| Sertm1 |
C |
T |
3: 54,806,746 (GRCm39) |
C93Y |
probably damaging |
Het |
| Slc22a2 |
A |
G |
17: 12,833,651 (GRCm39) |
T444A |
probably damaging |
Het |
| Trpm7 |
C |
A |
2: 126,675,635 (GRCm39) |
L489F |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Usp25 |
A |
C |
16: 76,912,341 (GRCm39) |
K1020T |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,511 (GRCm39) |
T511A |
probably benign |
Het |
| Zdhhc15 |
G |
A |
X: 103,604,294 (GRCm39) |
R322* |
probably null |
Het |
|
| Other mutations in Cimap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Cimap3
|
APN |
3 |
105,921,824 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01615:Cimap3
|
APN |
3 |
105,904,523 (GRCm39) |
splice site |
probably null |
|
|
IGL02451:Cimap3
|
APN |
3 |
105,921,820 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0139:Cimap3
|
UTSW |
3 |
105,906,886 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1802:Cimap3
|
UTSW |
3 |
105,921,866 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1832:Cimap3
|
UTSW |
3 |
105,921,912 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4681:Cimap3
|
UTSW |
3 |
105,905,701 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4984:Cimap3
|
UTSW |
3 |
105,908,810 (GRCm39) |
start gained |
probably benign |
|
|
R5245:Cimap3
|
UTSW |
3 |
105,921,770 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5308:Cimap3
|
UTSW |
3 |
105,908,419 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6015:Cimap3
|
UTSW |
3 |
105,906,937 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7430:Cimap3
|
UTSW |
3 |
105,921,834 (GRCm39) |
missense |
probably benign |
|
|
R8253:Cimap3
|
UTSW |
3 |
105,905,683 (GRCm39) |
missense |
probably benign |
|
|
R9201:Cimap3
|
UTSW |
3 |
105,906,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Cimap3
|
UTSW |
3 |
105,906,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGTTTCCTCGCTTGACG -3'
(R):5'- CCTCAAAGCTTAGATGTAACTTGACC -3'
Sequencing Primer
(F):5'- CGCTTGACGTGTTCCAAAG -3'
(R):5'- AGATGTAACTTGACCTGTGTCC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation