Incidental Mutation 'R3013:Ccdc39'
| ID |
257558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc39
|
| Ensembl Gene |
ENSMUSG00000027676 |
| Gene Name |
coiled-coil domain containing 39 |
| Synonyms |
b2b1735Clo, D3Ertd789e, prh, 4921507O14Rik, b2b1304Clo, b2b2025.1Clo |
| MMRRC Submission |
040534-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.777)
|
| Stock # |
R3013 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
33866511-33898459 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 33868817 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 798
(R798Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029222
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029222]
[ENSMUST00000099153]
[ENSMUST00000108210]
[ENSMUST00000117915]
[ENSMUST00000199222]
|
| AlphaFold |
Q9D5Y1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029222
AA Change: R798Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029222
Gene: ENSMUSG00000027676
AA Change: R798Q
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
16 |
67 |
N/A |
INTRINSIC |
|
coiled coil region
|
164 |
198 |
N/A |
INTRINSIC |
|
coiled coil region
|
232 |
339 |
N/A |
INTRINSIC |
|
low complexity region
|
381 |
393 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
569 |
603 |
1.19e-5 |
PROSPERO |
|
internal_repeat_1
|
598 |
635 |
1.19e-5 |
PROSPERO |
|
coiled coil region
|
664 |
704 |
N/A |
INTRINSIC |
|
coiled coil region
|
726 |
766 |
N/A |
INTRINSIC |
|
low complexity region
|
873 |
889 |
N/A |
INTRINSIC |
|
low complexity region
|
915 |
928 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099153
|
| SMART Domains |
Protein: ENSMUSP00000096757
Gene: ENSMUSG00000027677
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
S1
|
123 |
207 |
7.28e-2 |
SMART |
|
TPR
|
306 |
339 |
6.19e-1 |
SMART |
|
TPR
|
340 |
373 |
2.11e-3 |
SMART |
|
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108210
|
| SMART Domains |
Protein: ENSMUSP00000103845
Gene: ENSMUSG00000027677
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
S1
|
123 |
207 |
7.28e-2 |
SMART |
|
TPR
|
306 |
339 |
6.19e-1 |
SMART |
|
TPR
|
340 |
373 |
2.11e-3 |
SMART |
|
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
coiled coil region
|
415 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
617 |
630 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117915
|
| SMART Domains |
Protein: ENSMUSP00000112450
Gene: ENSMUSG00000027677
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
S1
|
123 |
207 |
7.28e-2 |
SMART |
|
TPR
|
254 |
287 |
6.19e-1 |
SMART |
|
TPR
|
288 |
321 |
2.11e-3 |
SMART |
|
TPR
|
329 |
362 |
1.88e0 |
SMART |
|
coiled coil region
|
363 |
424 |
N/A |
INTRINSIC |
|
low complexity region
|
565 |
578 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197317
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199222
|
| SMART Domains |
Protein: ENSMUSP00000142935
Gene: ENSMUSG00000027677
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
38 |
56 |
N/A |
INTRINSIC |
|
S1
|
123 |
207 |
7.28e-2 |
SMART |
|
TPR
|
306 |
339 |
6.19e-1 |
SMART |
|
TPR
|
340 |
373 |
2.11e-3 |
SMART |
|
TPR
|
381 |
414 |
1.88e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200300
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200536
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
97% (32/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the motility of cilia and flagella. The encoded protein is essential for the assembly of dynein regulatory and inner dynein arm complexes, which regulate ciliary beat. Defects in this gene are a cause of primary ciliary dyskinesia type 14 (CILD14). [provided by RefSeq, Jul 2011]
PHENOTYPE: ENU induced mutations result in situs inversus totalis with dextrocardia, double outlet right ventricle and atrial septal defects, renal anomalies including cysts and hydronephrosis, and immotile tracheal airway cilia. One ENU induced mutation causes ependymal motile cilia defects and hydrocephalus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afg3l1 |
C |
T |
8: 124,211,416 (GRCm39) |
R126W |
probably benign |
Het |
| Alg10b |
T |
A |
15: 90,111,759 (GRCm39) |
I201N |
possibly damaging |
Het |
| Arid2 |
T |
C |
15: 96,259,817 (GRCm39) |
S326P |
probably damaging |
Het |
| Ash2l |
T |
C |
8: 26,329,792 (GRCm39) |
D122G |
probably damaging |
Het |
| Bpifb5 |
T |
C |
2: 154,070,775 (GRCm39) |
S189P |
possibly damaging |
Het |
| Ccdc57 |
A |
G |
11: 120,752,025 (GRCm39) |
V852A |
probably benign |
Het |
| Ces1e |
G |
A |
8: 93,929,915 (GRCm39) |
S455L |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,128,139 (GRCm39) |
K292R |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,227,847 (GRCm39) |
|
probably null |
Het |
| Eml5 |
T |
C |
12: 98,847,067 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,324,358 (GRCm39) |
|
probably benign |
Het |
| Hip1 |
T |
A |
5: 135,463,893 (GRCm39) |
E37V |
possibly damaging |
Het |
| Hspbp1 |
G |
T |
7: 4,666,483 (GRCm39) |
T299K |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,074,497 (GRCm39) |
D470G |
probably benign |
Het |
| Mkx |
A |
T |
18: 6,936,929 (GRCm39) |
I334N |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,951,744 (GRCm39) |
L4003Q |
probably damaging |
Het |
| Pcnx2 |
C |
A |
8: 126,614,509 (GRCm39) |
C314F |
probably benign |
Het |
| Pramel31 |
T |
A |
4: 144,089,025 (GRCm39) |
D114E |
probably damaging |
Het |
| Prr5l |
A |
G |
2: 101,565,050 (GRCm39) |
F162S |
probably damaging |
Het |
| Rbfox2 |
T |
C |
15: 77,017,120 (GRCm39) |
T17A |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
T |
2: 112,470,626 (GRCm39) |
F4610L |
probably damaging |
Het |
| Scp2 |
T |
A |
4: 107,928,554 (GRCm39) |
R379W |
probably damaging |
Het |
| Serpina3j |
A |
G |
12: 104,285,966 (GRCm39) |
T374A |
probably damaging |
Het |
| Smad4 |
T |
C |
18: 73,781,975 (GRCm39) |
Y429C |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,565,025 (GRCm39) |
T28401A |
probably damaging |
Het |
| Wdr49 |
A |
G |
3: 75,358,154 (GRCm39) |
I260T |
probably damaging |
Het |
| Xirp1 |
T |
C |
9: 119,848,851 (GRCm39) |
T11A |
probably benign |
Het |
| Zfp235 |
A |
G |
7: 23,840,157 (GRCm39) |
D262G |
probably damaging |
Het |
|
| Other mutations in Ccdc39 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02093:Ccdc39
|
APN |
3 |
33,886,717 (GRCm39) |
missense |
probably benign |
0.16 |
|
IGL02321:Ccdc39
|
APN |
3 |
33,871,107 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02426:Ccdc39
|
APN |
3 |
33,879,547 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02930:Ccdc39
|
APN |
3 |
33,879,643 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03027:Ccdc39
|
APN |
3 |
33,884,267 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL03347:Ccdc39
|
APN |
3 |
33,891,992 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0046:Ccdc39
|
UTSW |
3 |
33,898,301 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0046:Ccdc39
|
UTSW |
3 |
33,898,301 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0601:Ccdc39
|
UTSW |
3 |
33,873,988 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0975:Ccdc39
|
UTSW |
3 |
33,898,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1075:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1224:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1251:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1252:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1254:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1255:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1331:Ccdc39
|
UTSW |
3 |
33,869,634 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1370:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1385:Ccdc39
|
UTSW |
3 |
33,875,561 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1416:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1491:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1513:Ccdc39
|
UTSW |
3 |
33,893,294 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1769:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1965:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1966:Ccdc39
|
UTSW |
3 |
33,880,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2061:Ccdc39
|
UTSW |
3 |
33,874,045 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2109:Ccdc39
|
UTSW |
3 |
33,869,650 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2183:Ccdc39
|
UTSW |
3 |
33,875,581 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R2207:Ccdc39
|
UTSW |
3 |
33,890,882 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2208:Ccdc39
|
UTSW |
3 |
33,895,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2267:Ccdc39
|
UTSW |
3 |
33,869,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3012:Ccdc39
|
UTSW |
3 |
33,868,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3120:Ccdc39
|
UTSW |
3 |
33,891,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3415:Ccdc39
|
UTSW |
3 |
33,868,646 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3802:Ccdc39
|
UTSW |
3 |
33,874,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3804:Ccdc39
|
UTSW |
3 |
33,874,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4107:Ccdc39
|
UTSW |
3 |
33,879,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4334:Ccdc39
|
UTSW |
3 |
33,892,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Ccdc39
|
UTSW |
3 |
33,880,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4462:Ccdc39
|
UTSW |
3 |
33,868,817 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Ccdc39
|
UTSW |
3 |
33,873,955 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4723:Ccdc39
|
UTSW |
3 |
33,867,227 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4908:Ccdc39
|
UTSW |
3 |
33,893,242 (GRCm39) |
splice site |
probably null |
|
|
R5236:Ccdc39
|
UTSW |
3 |
33,884,251 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5646:Ccdc39
|
UTSW |
3 |
33,879,699 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5705:Ccdc39
|
UTSW |
3 |
33,871,086 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5739:Ccdc39
|
UTSW |
3 |
33,880,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6130:Ccdc39
|
UTSW |
3 |
33,895,341 (GRCm39) |
splice site |
probably null |
|
|
R6375:Ccdc39
|
UTSW |
3 |
33,868,516 (GRCm39) |
missense |
probably benign |
0.38 |
|
R6548:Ccdc39
|
UTSW |
3 |
33,892,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6709:Ccdc39
|
UTSW |
3 |
33,884,242 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6858:Ccdc39
|
UTSW |
3 |
33,874,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7183:Ccdc39
|
UTSW |
3 |
33,868,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7269:Ccdc39
|
UTSW |
3 |
33,884,254 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:Ccdc39
|
UTSW |
3 |
33,886,825 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R7645:Ccdc39
|
UTSW |
3 |
33,879,318 (GRCm39) |
splice site |
probably null |
|
|
R7695:Ccdc39
|
UTSW |
3 |
33,868,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7752:Ccdc39
|
UTSW |
3 |
33,886,766 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8487:Ccdc39
|
UTSW |
3 |
33,886,808 (GRCm39) |
nonsense |
probably null |
|
|
R8523:Ccdc39
|
UTSW |
3 |
33,869,560 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8525:Ccdc39
|
UTSW |
3 |
33,868,853 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8777:Ccdc39
|
UTSW |
3 |
33,893,282 (GRCm39) |
missense |
probably benign |
|
|
R8777-TAIL:Ccdc39
|
UTSW |
3 |
33,893,282 (GRCm39) |
missense |
probably benign |
|
|
R8842:Ccdc39
|
UTSW |
3 |
33,880,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8932:Ccdc39
|
UTSW |
3 |
33,884,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8947:Ccdc39
|
UTSW |
3 |
33,869,609 (GRCm39) |
unclassified |
probably benign |
|
|
R9207:Ccdc39
|
UTSW |
3 |
33,886,706 (GRCm39) |
nonsense |
probably null |
|
|
R9280:Ccdc39
|
UTSW |
3 |
33,870,153 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9462:Ccdc39
|
UTSW |
3 |
33,868,519 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGGAGCTGAATGTCCTGTTCTTC -3'
(R):5'- GCAAATGGCAAGCAATAAGTCTTC -3'
Sequencing Primer
(F):5'- AGCTGAATGTCCTGTTCTTCTAGAG -3'
(R):5'- GGACACTTAGCAAATAATGCC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation