Incidental Mutation 'R8927:Ccdc136'
| ID |
679591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc136
|
| Ensembl Gene |
ENSMUSG00000029769 |
| Gene Name |
coiled-coil domain containing 136 |
| Synonyms |
4921511K06Rik |
| MMRRC Submission |
068771-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8927 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29406109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 152
(I152V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137673
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096084]
[ENSMUST00000115275]
[ENSMUST00000145310]
[ENSMUST00000154619]
[ENSMUST00000180829]
[ENSMUST00000181464]
[ENSMUST00000202726]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096084
AA Change: I244V
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: I244V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
99 |
310 |
N/A |
INTRINSIC |
|
coiled coil region
|
343 |
408 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
416 |
435 |
7.26e-6 |
PROSPERO |
|
low complexity region
|
439 |
453 |
N/A |
INTRINSIC |
|
coiled coil region
|
463 |
489 |
N/A |
INTRINSIC |
|
coiled coil region
|
526 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
coiled coil region
|
730 |
779 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
791 |
810 |
8.87e-9 |
PROSPERO |
|
internal_repeat_1
|
819 |
838 |
8.87e-9 |
PROSPERO |
|
low complexity region
|
847 |
868 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
902 |
921 |
7.26e-6 |
PROSPERO |
|
low complexity region
|
994 |
1011 |
N/A |
INTRINSIC |
|
low complexity region
|
1023 |
1041 |
N/A |
INTRINSIC |
|
coiled coil region
|
1066 |
1104 |
N/A |
INTRINSIC |
|
low complexity region
|
1108 |
1142 |
N/A |
INTRINSIC |
|
transmembrane domain
|
1154 |
1176 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115275
AA Change: I244V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: I244V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
99 |
310 |
N/A |
INTRINSIC |
|
coiled coil region
|
343 |
408 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
416 |
435 |
1.72e-5 |
PROSPERO |
|
low complexity region
|
439 |
453 |
N/A |
INTRINSIC |
|
coiled coil region
|
463 |
489 |
N/A |
INTRINSIC |
|
coiled coil region
|
526 |
611 |
N/A |
INTRINSIC |
|
low complexity region
|
645 |
658 |
N/A |
INTRINSIC |
|
coiled coil region
|
730 |
779 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
791 |
810 |
2.93e-8 |
PROSPERO |
|
internal_repeat_1
|
819 |
838 |
2.93e-8 |
PROSPERO |
|
low complexity region
|
847 |
868 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
902 |
921 |
1.72e-5 |
PROSPERO |
|
transmembrane domain
|
967 |
989 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145310
AA Change: I244V
PolyPhen 2
Score 0.696 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769
AA Change: I244V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
13 |
N/A |
INTRINSIC |
|
low complexity region
|
65 |
83 |
N/A |
INTRINSIC |
|
low complexity region
|
85 |
92 |
N/A |
INTRINSIC |
|
coiled coil region
|
99 |
310 |
N/A |
INTRINSIC |
|
coiled coil region
|
343 |
408 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154619
AA Change: I86V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: I86V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
152 |
N/A |
INTRINSIC |
|
coiled coil region
|
185 |
250 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
258 |
277 |
4.68e-6 |
PROSPERO |
|
low complexity region
|
281 |
295 |
N/A |
INTRINSIC |
|
coiled coil region
|
305 |
331 |
N/A |
INTRINSIC |
|
coiled coil region
|
368 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
500 |
N/A |
INTRINSIC |
|
coiled coil region
|
572 |
621 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
633 |
652 |
5.47e-9 |
PROSPERO |
|
internal_repeat_1
|
661 |
680 |
5.47e-9 |
PROSPERO |
|
low complexity region
|
689 |
710 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
744 |
763 |
4.68e-6 |
PROSPERO |
|
low complexity region
|
836 |
853 |
N/A |
INTRINSIC |
|
low complexity region
|
865 |
883 |
N/A |
INTRINSIC |
|
coiled coil region
|
908 |
946 |
N/A |
INTRINSIC |
|
low complexity region
|
950 |
984 |
N/A |
INTRINSIC |
|
transmembrane domain
|
996 |
1018 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180829
AA Change: I152V
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: I152V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
218 |
N/A |
INTRINSIC |
|
coiled coil region
|
251 |
316 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
324 |
343 |
1.21e-5 |
PROSPERO |
|
low complexity region
|
347 |
361 |
N/A |
INTRINSIC |
|
coiled coil region
|
371 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
434 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
638 |
687 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
699 |
718 |
1.98e-8 |
PROSPERO |
|
internal_repeat_1
|
727 |
746 |
1.98e-8 |
PROSPERO |
|
low complexity region
|
755 |
776 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
810 |
829 |
1.21e-5 |
PROSPERO |
|
transmembrane domain
|
875 |
897 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000181464
AA Change: I152V
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: I152V
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
7 |
218 |
N/A |
INTRINSIC |
|
coiled coil region
|
251 |
316 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
324 |
343 |
7.68e-6 |
PROSPERO |
|
low complexity region
|
347 |
361 |
N/A |
INTRINSIC |
|
coiled coil region
|
371 |
397 |
N/A |
INTRINSIC |
|
coiled coil region
|
434 |
519 |
N/A |
INTRINSIC |
|
low complexity region
|
553 |
566 |
N/A |
INTRINSIC |
|
coiled coil region
|
638 |
687 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
699 |
718 |
1.04e-8 |
PROSPERO |
|
internal_repeat_1
|
727 |
746 |
1.04e-8 |
PROSPERO |
|
low complexity region
|
755 |
776 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
810 |
829 |
7.68e-6 |
PROSPERO |
|
low complexity region
|
902 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
931 |
949 |
N/A |
INTRINSIC |
|
transmembrane domain
|
969 |
991 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202726
|
| SMART Domains |
Protein: ENSMUSP00000144577
Gene: ENSMUSG00000029769
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
25 |
90 |
N/A |
INTRINSIC |
|
transmembrane domain
|
94 |
116 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0630 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,165,805 (GRCm39) |
R190* |
probably null |
Het |
| Aldh7a1 |
A |
T |
18: 56,660,060 (GRCm39) |
S529T |
probably benign |
Het |
| Carmil2 |
T |
G |
8: 106,415,130 (GRCm39) |
Y214* |
probably null |
Het |
| Ccdc88c |
T |
C |
12: 100,932,676 (GRCm39) |
D285G |
possibly damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,946,328 (GRCm39) |
F191I |
probably damaging |
Het |
| Dennd6b |
AGCTGGGGTCCCGC |
AGC |
15: 89,069,780 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
A |
T |
14: 24,206,547 (GRCm39) |
S1222T |
|
Het |
| Dnaaf9 |
T |
A |
2: 130,579,300 (GRCm39) |
R777* |
probably null |
Het |
| Dnah14 |
T |
G |
1: 181,508,321 (GRCm39) |
L1833W |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,725,535 (GRCm39) |
W549R |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,510,713 (GRCm39) |
V632E |
possibly damaging |
Het |
| Fam83a |
G |
A |
15: 57,873,313 (GRCm39) |
V381M |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,704,398 (GRCm39) |
T503A |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,252,703 (GRCm39) |
F289L |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,456,903 (GRCm39) |
E96G |
probably damaging |
Het |
| Gm18596 |
G |
A |
10: 77,578,162 (GRCm39) |
A104V |
unknown |
Het |
| Gm21680 |
A |
T |
5: 26,176,347 (GRCm39) |
N83K |
probably damaging |
Het |
| Gnb5 |
T |
C |
9: 75,252,236 (GRCm39) |
V393A |
possibly damaging |
Het |
| Grin2b |
T |
G |
6: 135,749,339 (GRCm39) |
Q621P |
probably damaging |
Het |
| Gtsf2 |
T |
C |
15: 103,352,783 (GRCm39) |
I79V |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,105,055 (GRCm39) |
I1040V |
probably benign |
Het |
| Kif2b |
C |
T |
11: 91,468,023 (GRCm39) |
E87K |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,604,206 (GRCm39) |
G225S |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,220,084 (GRCm39) |
C94S |
unknown |
Het |
| Man2c1 |
T |
G |
9: 57,048,456 (GRCm39) |
Y872* |
probably null |
Het |
| Mical3 |
T |
A |
6: 120,984,325 (GRCm39) |
M832L |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,216,334 (GRCm39) |
D41G |
probably benign |
Het |
| Nedd1 |
T |
A |
10: 92,558,258 (GRCm39) |
|
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,792 (GRCm39) |
R593Q |
probably benign |
Het |
| Nxpe3 |
T |
G |
16: 55,669,997 (GRCm39) |
E369D |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,977,695 (GRCm39) |
T1802S |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,406 (GRCm39) |
F182I |
probably benign |
Het |
| Or2a7 |
T |
C |
6: 43,151,669 (GRCm39) |
F250L |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,585,107 (GRCm39) |
H171L |
probably benign |
Het |
| Or9s14 |
A |
G |
1: 92,536,438 (GRCm39) |
N293S |
probably damaging |
Het |
| Oscar |
A |
C |
7: 3,614,747 (GRCm39) |
V75G |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,620,372 (GRCm39) |
A721T |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,659 (GRCm39) |
Y264C |
probably benign |
Het |
| Pear1 |
G |
T |
3: 87,661,890 (GRCm39) |
A495D |
probably damaging |
Het |
| Plekhf1 |
C |
A |
7: 37,920,998 (GRCm39) |
R190L |
probably damaging |
Het |
| Plppr5 |
T |
C |
3: 117,369,532 (GRCm39) |
V63A |
probably benign |
Het |
| Pyroxd1 |
T |
A |
6: 142,300,437 (GRCm39) |
F189Y |
probably damaging |
Het |
| Rab13 |
C |
T |
3: 90,128,120 (GRCm39) |
|
probably benign |
Het |
| Rptor |
C |
T |
11: 119,782,036 (GRCm39) |
T1121I |
probably benign |
Het |
| Scgb2b7 |
T |
C |
7: 31,404,602 (GRCm39) |
S33G |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,982,126 (GRCm39) |
|
probably null |
Het |
| Smtn |
T |
A |
11: 3,479,477 (GRCm39) |
H530L |
possibly damaging |
Het |
| Srrt |
C |
T |
5: 137,297,070 (GRCm39) |
C411Y |
probably benign |
Het |
| Stag1 |
C |
A |
9: 100,587,298 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Tarm1 |
G |
A |
7: 3,537,719 (GRCm39) |
T248I |
possibly damaging |
Het |
| Tektl1 |
T |
C |
10: 78,588,258 (GRCm39) |
Y184C |
probably damaging |
Het |
| Trim6 |
C |
T |
7: 103,881,655 (GRCm39) |
A328V |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,811 (GRCm39) |
I9V |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,546,500 (GRCm39) |
T791A |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,116,020 (GRCm39) |
T454A |
probably benign |
Het |
|
| Other mutations in Ccdc136 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00980:Ccdc136
|
APN |
6 |
29,420,257 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01325:Ccdc136
|
APN |
6 |
29,412,949 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01608:Ccdc136
|
APN |
6 |
29,406,113 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL02305:Ccdc136
|
APN |
6 |
29,406,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03354:Ccdc136
|
APN |
6 |
29,419,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dimensionless
|
UTSW |
6 |
29,412,449 (GRCm39) |
missense |
probably benign |
0.03 |
|
punctate
|
UTSW |
6 |
29,410,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4515001:Ccdc136
|
UTSW |
6 |
29,417,225 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0436:Ccdc136
|
UTSW |
6 |
29,414,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0709:Ccdc136
|
UTSW |
6 |
29,414,969 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R1451:Ccdc136
|
UTSW |
6 |
29,419,376 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1593:Ccdc136
|
UTSW |
6 |
29,415,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Ccdc136
|
UTSW |
6 |
29,418,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Ccdc136
|
UTSW |
6 |
29,413,031 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R3845:Ccdc136
|
UTSW |
6 |
29,417,176 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4668:Ccdc136
|
UTSW |
6 |
29,411,280 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5037:Ccdc136
|
UTSW |
6 |
29,417,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Ccdc136
|
UTSW |
6 |
29,419,313 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5314:Ccdc136
|
UTSW |
6 |
29,417,497 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5340:Ccdc136
|
UTSW |
6 |
29,411,859 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R5702:Ccdc136
|
UTSW |
6 |
29,412,981 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6108:Ccdc136
|
UTSW |
6 |
29,412,449 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6313:Ccdc136
|
UTSW |
6 |
29,410,204 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6640:Ccdc136
|
UTSW |
6 |
29,412,959 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6765:Ccdc136
|
UTSW |
6 |
29,405,940 (GRCm39) |
missense |
probably benign |
|
|
R7910:Ccdc136
|
UTSW |
6 |
29,420,033 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7914:Ccdc136
|
UTSW |
6 |
29,419,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8030:Ccdc136
|
UTSW |
6 |
29,417,141 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8414:Ccdc136
|
UTSW |
6 |
29,412,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8925:Ccdc136
|
UTSW |
6 |
29,406,109 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9147:Ccdc136
|
UTSW |
6 |
29,418,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9148:Ccdc136
|
UTSW |
6 |
29,418,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9255:Ccdc136
|
UTSW |
6 |
29,409,237 (GRCm39) |
missense |
probably benign |
|
|
R9279:Ccdc136
|
UTSW |
6 |
29,421,982 (GRCm39) |
intron |
probably benign |
|
|
R9364:Ccdc136
|
UTSW |
6 |
29,405,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9623:Ccdc136
|
UTSW |
6 |
29,405,939 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9712:Ccdc136
|
UTSW |
6 |
29,417,441 (GRCm39) |
missense |
probably benign |
|
|
R9799:Ccdc136
|
UTSW |
6 |
29,417,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Ccdc136
|
UTSW |
6 |
29,409,242 (GRCm39) |
splice site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTGCAACATCTACGGGAG -3'
(R):5'- ATGCGTAATCTAACACTACTCTTCC -3'
Sequencing Primer
(F):5'- TTCCCTGTTAGAGCATGAGAAG -3'
(R):5'- TAATCTAACACTACTCTTCCACCATC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation