Incidental Mutation 'R0981:Cimap1a'
| ID |
97164 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cimap1a
|
| Ensembl Gene |
ENSMUSG00000025482 |
| Gene Name |
ciliary microtubule associated protein 1A |
| Synonyms |
SHIPPO1, 1700011O04Rik, Odf3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.108)
|
| Stock # |
R0981 (G1)
|
| Quality Score |
183 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
140427829-140430838 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140428208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 7
(M7V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101664
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026555]
[ENSMUST00000035300]
[ENSMUST00000106049]
[ENSMUST00000209690]
|
| AlphaFold |
Q920N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026555
|
| SMART Domains |
Protein: ENSMUSP00000026555
Gene: ENSMUSG00000025482
| 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: 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 benign
Transcript: ENSMUST00000106049
AA Change: M7V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101664
Gene: ENSMUSG00000025482
AA Change: M7V
| 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: 99.5%
- 3x: 98.4%
- 10x: 95.4%
- 20x: 89.6%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars2 |
T |
A |
17: 45,831,257 (GRCm39) |
C942S |
probably damaging |
Het |
| Alpk1 |
T |
C |
3: 127,473,051 (GRCm39) |
N984S |
possibly damaging |
Het |
| Ankrd55 |
T |
C |
13: 112,459,610 (GRCm39) |
V68A |
possibly damaging |
Het |
| Asap2 |
T |
C |
12: 21,315,961 (GRCm39) |
S960P |
probably damaging |
Het |
| Atp2b1 |
T |
A |
10: 98,851,491 (GRCm39) |
N66K |
probably damaging |
Het |
| Cckar |
C |
T |
5: 53,863,632 (GRCm39) |
G39R |
probably damaging |
Het |
| Col11a1 |
G |
A |
3: 113,932,414 (GRCm39) |
R113H |
unknown |
Het |
| Cpb1 |
C |
A |
3: 20,329,654 (GRCm39) |
R24L |
probably benign |
Het |
| Dlg5 |
T |
G |
14: 24,204,699 (GRCm39) |
R1258S |
probably damaging |
Het |
| Fanci |
A |
G |
7: 79,054,914 (GRCm39) |
Q148R |
probably benign |
Het |
| Fcgbp |
T |
A |
7: 27,784,535 (GRCm39) |
Y198* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Garin5b |
T |
A |
7: 4,760,588 (GRCm39) |
|
probably null |
Het |
| Glis1 |
A |
G |
4: 107,472,239 (GRCm39) |
E272G |
probably damaging |
Het |
| Gm13741 |
T |
C |
2: 87,486,578 (GRCm39) |
N229S |
probably benign |
Het |
| Gsdmc4 |
T |
A |
15: 63,763,922 (GRCm39) |
I392F |
probably damaging |
Het |
| H2-M2 |
T |
C |
17: 37,793,521 (GRCm39) |
T162A |
probably benign |
Het |
| Hk2 |
G |
A |
6: 82,720,949 (GRCm39) |
R190W |
probably damaging |
Het |
| Irf1 |
T |
C |
11: 53,664,548 (GRCm39) |
*52R |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,484,314 (GRCm39) |
M1L |
unknown |
Het |
| Mgat1 |
C |
T |
11: 49,151,882 (GRCm39) |
R122C |
probably damaging |
Het |
| Mtrf1 |
T |
C |
14: 79,639,030 (GRCm39) |
L54S |
probably benign |
Het |
| Myo5c |
A |
T |
9: 75,178,873 (GRCm39) |
L676F |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,226,174 (GRCm39) |
I786T |
probably damaging |
Het |
| Or5p64 |
AGGT |
A |
7: 107,855,228 (GRCm39) |
|
probably benign |
Het |
| Or5p64 |
GGTAG |
GG |
7: 107,855,229 (GRCm39) |
|
probably benign |
Het |
| Pfn1 |
G |
A |
11: 70,542,964 (GRCm39) |
R137C |
probably benign |
Het |
| Pgbd5 |
G |
A |
8: 125,111,032 (GRCm39) |
R129* |
probably null |
Het |
| Pibf1 |
T |
C |
14: 99,388,179 (GRCm39) |
|
probably null |
Het |
| Pkd2l1 |
A |
G |
19: 44,142,861 (GRCm39) |
|
probably null |
Het |
| Plin5 |
C |
A |
17: 56,421,020 (GRCm39) |
R215L |
probably damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,550 (GRCm39) |
|
probably benign |
Het |
| Rnasel |
T |
G |
1: 153,635,345 (GRCm39) |
C608G |
probably benign |
Het |
| Slc28a2 |
T |
A |
2: 122,281,465 (GRCm39) |
V218D |
probably damaging |
Het |
| Snx1 |
T |
C |
9: 66,016,841 (GRCm39) |
I29V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,752,000 (GRCm39) |
W939R |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,157,164 (GRCm39) |
R15L |
probably damaging |
Het |
| Tmx3 |
T |
C |
18: 90,555,324 (GRCm39) |
V347A |
probably benign |
Het |
| Vmn1r191 |
T |
C |
13: 22,363,389 (GRCm39) |
T122A |
probably benign |
Het |
| Wdfy4 |
G |
T |
14: 32,869,049 (GRCm39) |
N326K |
probably benign |
Het |
| Zfp408 |
A |
G |
2: 91,475,528 (GRCm39) |
L642P |
probably benign |
Het |
| Zfp808 |
C |
A |
13: 62,319,487 (GRCm39) |
H239N |
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 |
|
|
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 |
|
|
R6441:Cimap1a
|
UTSW |
7 |
140,429,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGAAGGCATGACTCCCACCCTTATC -3'
(R):5'- AGGATTAAGCCCAGATCCATCCCAG -3'
Sequencing Primer
(F):5'- CACCCTTATCTTGGAGCTGG -3'
(R):5'- GGCCTTAGGCAATCTTACCCG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation