Incidental Mutation 'R1328:Ccdc71'
| ID |
157285 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc71
|
| Ensembl Gene |
ENSMUSG00000049305 |
| Gene Name |
coiled-coil domain containing 71 |
| Synonyms |
2600016J21Rik |
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
108337726-108343137 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 108340148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061209]
[ENSMUST00000193170]
[ENSMUST00000193269]
[ENSMUST00000193286]
[ENSMUST00000193895]
|
| AlphaFold |
Q8VEG0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061209
|
| SMART Domains |
Protein: ENSMUSP00000057891
Gene: ENSMUSG00000049305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC71L
|
8 |
430 |
4.7e-168 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192160
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192210
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193170
|
| SMART Domains |
Protein: ENSMUSP00000142230
Gene: ENSMUSG00000049305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC71L
|
8 |
430 |
3.1e-151 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193269
|
| SMART Domains |
Protein: ENSMUSP00000141937
Gene: ENSMUSG00000049305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CCDC71L
|
8 |
93 |
5.3e-56 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193286
|
| SMART Domains |
Protein: ENSMUSP00000142325
Gene: ENSMUSG00000032609
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
|
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
|
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
|
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
|
Kelch
|
239 |
281 |
8.33e0 |
SMART |
|
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195869
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193895
|
| SMART Domains |
Protein: ENSMUSP00000141453
Gene: ENSMUSG00000032609
| Domain | Start | End | E-Value | Type |
|---|
|
Kelch
|
32 |
79 |
2.08e-6 |
SMART |
|
Kelch
|
80 |
127 |
1.9e-1 |
SMART |
|
Kelch
|
128 |
174 |
1.76e-4 |
SMART |
|
Kelch
|
176 |
222 |
3.74e-8 |
SMART |
|
Kelch
|
239 |
281 |
8.33e0 |
SMART |
|
Kelch
|
282 |
329 |
3.83e-5 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Rrp36 |
T |
A |
17: 46,983,705 (GRCm39) |
K36* |
probably null |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
Het |
|
| Other mutations in Ccdc71 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00264:Ccdc71
|
APN |
9 |
108,340,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00428:Ccdc71
|
APN |
9 |
108,341,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0158:Ccdc71
|
UTSW |
9 |
108,341,336 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1415:Ccdc71
|
UTSW |
9 |
108,340,407 (GRCm39) |
nonsense |
probably null |
|
|
R4721:Ccdc71
|
UTSW |
9 |
108,340,622 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5144:Ccdc71
|
UTSW |
9 |
108,341,051 (GRCm39) |
missense |
probably benign |
|
|
R6379:Ccdc71
|
UTSW |
9 |
108,340,811 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7406:Ccdc71
|
UTSW |
9 |
108,340,523 (GRCm39) |
nonsense |
probably null |
|
|
R8097:Ccdc71
|
UTSW |
9 |
108,340,751 (GRCm39) |
missense |
probably benign |
|
|
R9577:Ccdc71
|
UTSW |
9 |
108,340,472 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAAGAAATGGCCCAACGTGGTAG -3'
(R):5'- TTGGAAGCCATCATCTCGCAGAC -3'
Sequencing Primer
(F):5'- CCCAACGTGGTAGAGATGGTC -3'
(R):5'- ATCATCTCGCAGACCCTGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation