Incidental Mutation 'R6441:Cimap1a'
ID |
519019 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cimap1a
|
Ensembl Gene |
ENSMUSG00000025482 |
Gene Name |
ciliary microtubule associated protein 1A |
Synonyms |
SHIPPO1, 1700011O04Rik, Odf3 |
MMRRC Submission |
044579-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.108)
|
Stock # |
R6441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
140427829-140430838 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 140429161 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 149
(S149P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101664
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026555]
[ENSMUST00000026557]
[ENSMUST00000035300]
[ENSMUST00000106049]
[ENSMUST00000209690]
|
AlphaFold |
Q920N1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026555
AA Change: S123P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026555 Gene: ENSMUSG00000025482 AA Change: S123P
Domain | Start | End | E-Value | Type |
Pfam:SHIPPO-rpt
|
25 |
59 |
3.8e-3 |
PFAM |
Pfam:SHIPPO-rpt
|
65 |
95 |
7.8e-2 |
PFAM |
Pfam:SHIPPO-rpt
|
100 |
131 |
1.2e-7 |
PFAM |
Pfam:SHIPPO-rpt
|
136 |
170 |
3.9e-4 |
PFAM |
Pfam:SHIPPO-rpt
|
179 |
209 |
3e-4 |
PFAM |
Pfam:SHIPPO-rpt
|
215 |
245 |
9.6e-6 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000026557
|
SMART Domains |
Protein: ENSMUSP00000026557 Gene: ENSMUSG00000025484
Domain | Start | End | E-Value | Type |
Pfam:SNARE
|
20 |
82 |
3.4e-13 |
PFAM |
transmembrane domain
|
87 |
106 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000035300
|
SMART Domains |
Protein: ENSMUSP00000048722 Gene: ENSMUSG00000038801
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
UTG
|
30 |
91 |
1.66e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000106049
AA Change: S149P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101664 Gene: ENSMUSG00000025482 AA Change: S149P
Domain | Start | End | E-Value | Type |
Pfam:SHIPPO-rpt
|
126 |
157 |
9.4e-6 |
PFAM |
Pfam:SHIPPO-rpt
|
162 |
196 |
1e-3 |
PFAM |
Pfam:SHIPPO-rpt
|
241 |
271 |
7.4e-8 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190581
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209690
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ODF3 is a component of sperm flagella outer dense fibers, which add stiffness, elastic recoil, and protection against shearing forces during sperm movement.[supplied by OMIM, Apr 2004]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agl |
A |
T |
3: 116,565,108 (GRCm39) |
M1047K |
probably benign |
Het |
Apob |
A |
T |
12: 8,037,796 (GRCm39) |
D322V |
probably damaging |
Het |
Capn12 |
T |
A |
7: 28,587,427 (GRCm39) |
C438S |
probably benign |
Het |
Cdh23 |
A |
T |
10: 60,143,815 (GRCm39) |
V2932E |
probably damaging |
Het |
Cdh9 |
A |
T |
15: 16,823,509 (GRCm39) |
T164S |
probably benign |
Het |
CN725425 |
T |
C |
15: 91,120,005 (GRCm39) |
V42A |
probably benign |
Het |
Cpb1 |
T |
C |
3: 20,303,978 (GRCm39) |
D362G |
probably damaging |
Het |
Csmd2 |
C |
A |
4: 128,288,757 (GRCm39) |
Q1099K |
probably benign |
Het |
D6Ertd527e |
C |
G |
6: 87,088,506 (GRCm39) |
T223S |
unknown |
Het |
Galnt4 |
A |
G |
10: 98,945,960 (GRCm39) |
M562V |
possibly damaging |
Het |
Gtf3c3 |
T |
A |
1: 54,445,197 (GRCm39) |
E619V |
probably benign |
Het |
Gucy2c |
A |
T |
6: 136,700,759 (GRCm39) |
M585K |
probably damaging |
Het |
Hmcn1 |
A |
G |
1: 150,578,967 (GRCm39) |
I1993T |
possibly damaging |
Het |
Lonrf2 |
T |
C |
1: 38,857,204 (GRCm39) |
E44G |
possibly damaging |
Het |
Lrit3 |
A |
T |
3: 129,594,009 (GRCm39) |
F189L |
probably benign |
Het |
Mag |
T |
C |
7: 30,606,508 (GRCm39) |
N310D |
possibly damaging |
Het |
Mccc2 |
T |
C |
13: 100,091,184 (GRCm39) |
T151A |
probably damaging |
Het |
Mybpc1 |
A |
T |
10: 88,389,139 (GRCm39) |
S49T |
probably benign |
Het |
Myh2 |
A |
G |
11: 67,085,437 (GRCm39) |
E1787G |
probably benign |
Het |
Ncapd3 |
A |
G |
9: 26,974,712 (GRCm39) |
D728G |
probably benign |
Het |
Nup37 |
A |
G |
10: 87,996,799 (GRCm39) |
E139G |
probably benign |
Het |
Or52h9 |
C |
T |
7: 104,202,542 (GRCm39) |
Q139* |
probably null |
Het |
Pcdhgb5 |
A |
G |
18: 37,865,138 (GRCm39) |
Y311C |
probably damaging |
Het |
Pls1 |
A |
G |
9: 95,636,798 (GRCm39) |
I558T |
probably damaging |
Het |
Rbm44 |
A |
T |
1: 91,084,799 (GRCm39) |
N674Y |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,759,120 (GRCm39) |
I3353V |
possibly damaging |
Het |
Sema3c |
C |
T |
5: 17,929,130 (GRCm39) |
T588I |
possibly damaging |
Het |
Sh2d5 |
A |
T |
4: 137,986,393 (GRCm39) |
E372V |
possibly damaging |
Het |
Slc27a6 |
C |
T |
18: 58,705,130 (GRCm39) |
P171S |
probably benign |
Het |
Slfn3 |
C |
T |
11: 83,105,740 (GRCm39) |
T579I |
probably benign |
Het |
Svil |
T |
G |
18: 5,049,323 (GRCm39) |
V287G |
probably benign |
Het |
Tas1r2 |
T |
A |
4: 139,396,467 (GRCm39) |
V602D |
probably damaging |
Het |
Tln2 |
A |
G |
9: 67,179,971 (GRCm39) |
L800P |
probably damaging |
Het |
Trim31 |
C |
A |
17: 37,218,683 (GRCm39) |
Q323K |
possibly damaging |
Het |
Txndc9 |
T |
A |
1: 38,029,299 (GRCm39) |
D183V |
possibly damaging |
Het |
Vmn2r28 |
T |
A |
7: 5,491,474 (GRCm39) |
M258L |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,820,784 (GRCm39) |
I50N |
probably damaging |
Het |
Zgrf1 |
A |
T |
3: 127,381,683 (GRCm39) |
N1161Y |
possibly damaging |
Het |
|
Other mutations in Cimap1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0051:Cimap1a
|
UTSW |
7 |
140,430,134 (GRCm39) |
unclassified |
probably benign |
|
R0547:Cimap1a
|
UTSW |
7 |
140,428,728 (GRCm39) |
splice site |
probably null |
|
R0981:Cimap1a
|
UTSW |
7 |
140,428,208 (GRCm39) |
missense |
probably benign |
0.00 |
R1221:Cimap1a
|
UTSW |
7 |
140,428,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R2849:Cimap1a
|
UTSW |
7 |
140,429,182 (GRCm39) |
missense |
probably benign |
0.00 |
R4833:Cimap1a
|
UTSW |
7 |
140,428,191 (GRCm39) |
start codon destroyed |
probably null |
|
R4854:Cimap1a
|
UTSW |
7 |
140,429,375 (GRCm39) |
missense |
probably damaging |
1.00 |
R4896:Cimap1a
|
UTSW |
7 |
140,428,398 (GRCm39) |
intron |
probably benign |
|
R5109:Cimap1a
|
UTSW |
7 |
140,429,461 (GRCm39) |
missense |
probably benign |
0.11 |
R6110:Cimap1a
|
UTSW |
7 |
140,428,554 (GRCm39) |
missense |
possibly damaging |
0.73 |
R6354:Cimap1a
|
UTSW |
7 |
140,430,527 (GRCm39) |
splice site |
probably null |
|
R6516:Cimap1a
|
UTSW |
7 |
140,428,718 (GRCm39) |
missense |
probably damaging |
0.99 |
R6672:Cimap1a
|
UTSW |
7 |
140,428,340 (GRCm39) |
missense |
probably benign |
0.27 |
R7086:Cimap1a
|
UTSW |
7 |
140,429,402 (GRCm39) |
missense |
probably benign |
|
R7820:Cimap1a
|
UTSW |
7 |
140,429,176 (GRCm39) |
missense |
probably benign |
0.44 |
R8069:Cimap1a
|
UTSW |
7 |
140,430,215 (GRCm39) |
missense |
probably benign |
0.11 |
R9799:Cimap1a
|
UTSW |
7 |
140,430,706 (GRCm39) |
missense |
probably benign |
0.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCTAGAAGCCTTGTGTCTTAATTG -3'
(R):5'- CACCACAGGCAGCATGTATG -3'
Sequencing Primer
(F):5'- AATTGTTGGGACACCCTTCCTGG -3'
(R):5'- ATGTATGCAGCAGGGCCTG -3'
|
Posted On |
2018-05-24 |