Incidental Mutation 'R1451:Ccdc136'
| ID |
161655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc136
|
| Ensembl Gene |
ENSMUSG00000029769 |
| Gene Name |
coiled-coil domain containing 136 |
| Synonyms |
4921511K06Rik |
| MMRRC Submission |
039506-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1451 (G1)
|
| Quality Score |
128 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29419376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 965
(N965K)
|
| 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 |
probably benign
Transcript: ENSMUST00000096084
AA Change: N1057K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: N1057K
| 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 benign
Transcript: ENSMUST00000115275
|
| SMART Domains |
Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
| 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 |
noncoding transcript
Transcript: ENSMUST00000127611
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143599
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145310
|
| SMART Domains |
Protein: ENSMUSP00000145331
Gene: ENSMUSG00000029769
| 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 benign
Transcript: ENSMUST00000154619
AA Change: N899K
PolyPhen 2
Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: N899K
| 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 |
probably benign
Transcript: ENSMUST00000180829
|
| SMART Domains |
Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
| 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 benign
Transcript: ENSMUST00000181464
AA Change: N965K
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: N965K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
| Validation Efficiency |
96% (55/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700024G13Rik |
T |
C |
14: 32,098,588 (GRCm39) |
E83G |
possibly damaging |
Het |
| Abca9 |
A |
G |
11: 110,018,273 (GRCm39) |
S1116P |
probably damaging |
Het |
| Abcc12 |
T |
A |
8: 87,284,322 (GRCm39) |
T296S |
probably damaging |
Het |
| Adarb2 |
A |
G |
13: 8,389,657 (GRCm39) |
|
probably benign |
Het |
| Arhgef12 |
C |
T |
9: 42,903,874 (GRCm39) |
|
probably benign |
Het |
| Asah1 |
A |
G |
8: 41,807,049 (GRCm39) |
|
probably null |
Het |
| C1ra |
A |
T |
6: 124,498,600 (GRCm39) |
Q431L |
probably benign |
Het |
| C1s2 |
A |
T |
6: 124,602,453 (GRCm39) |
I580N |
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,213,785 (GRCm39) |
T68I |
probably benign |
Het |
| Car8 |
A |
T |
4: 8,189,327 (GRCm39) |
H162Q |
probably benign |
Het |
| Ccdc106 |
A |
G |
7: 5,062,527 (GRCm39) |
R116G |
probably damaging |
Het |
| Cd200r3 |
A |
G |
16: 44,771,910 (GRCm39) |
E58G |
possibly damaging |
Het |
| Cnksr3 |
T |
A |
10: 7,076,830 (GRCm39) |
S121C |
probably null |
Het |
| Cog6 |
T |
C |
3: 52,916,534 (GRCm39) |
M212V |
possibly damaging |
Het |
| Ebna1bp2 |
C |
A |
4: 118,478,269 (GRCm39) |
|
probably null |
Het |
| Epha1 |
C |
A |
6: 42,338,385 (GRCm39) |
M730I |
probably damaging |
Het |
| Fcgbpl1 |
T |
C |
7: 27,836,582 (GRCm39) |
F167S |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,252,848 (GRCm39) |
E105V |
probably damaging |
Het |
| Gars1 |
T |
C |
6: 55,030,108 (GRCm39) |
|
probably benign |
Het |
| Itgb4 |
G |
T |
11: 115,881,710 (GRCm39) |
G753V |
probably damaging |
Het |
| Kif23 |
C |
T |
9: 61,832,084 (GRCm39) |
V634M |
probably damaging |
Het |
| Krt8 |
T |
C |
15: 101,907,264 (GRCm39) |
Y273C |
possibly damaging |
Het |
| Lgmn |
A |
G |
12: 102,372,151 (GRCm39) |
|
probably benign |
Het |
| Lrig3 |
T |
C |
10: 125,845,926 (GRCm39) |
I785T |
possibly damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,038,376 (GRCm39) |
|
probably benign |
Het |
| Lta4h |
A |
G |
10: 93,316,590 (GRCm39) |
D491G |
probably damaging |
Het |
| Megf10 |
A |
T |
18: 57,385,931 (GRCm39) |
S315C |
probably damaging |
Het |
| Mphosph8 |
C |
T |
14: 56,905,878 (GRCm39) |
R24C |
possibly damaging |
Het |
| Neurog2 |
A |
G |
3: 127,427,490 (GRCm39) |
D38G |
possibly damaging |
Het |
| Or1j11 |
G |
T |
2: 36,311,877 (GRCm39) |
A156S |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,457 (GRCm39) |
Y56* |
probably null |
Het |
| Or2z2 |
C |
T |
11: 58,346,358 (GRCm39) |
R139H |
probably benign |
Het |
| Or6b3 |
T |
A |
1: 92,439,517 (GRCm39) |
I78F |
possibly damaging |
Het |
| Or8b50 |
A |
T |
9: 38,518,234 (GRCm39) |
I158F |
probably benign |
Het |
| Or8g50 |
T |
A |
9: 39,648,612 (GRCm39) |
V167D |
probably benign |
Het |
| Pcdhb17 |
A |
T |
18: 37,619,989 (GRCm39) |
D593V |
probably damaging |
Het |
| Pde2a |
G |
T |
7: 101,071,198 (GRCm39) |
E23* |
probably null |
Het |
| Prex2 |
G |
A |
1: 11,226,483 (GRCm39) |
V749I |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,809 (GRCm39) |
Y570C |
probably damaging |
Het |
| Robo3 |
C |
T |
9: 37,329,007 (GRCm39) |
R1237K |
probably benign |
Het |
| Slc6a1 |
C |
A |
6: 114,284,756 (GRCm39) |
Y87* |
probably null |
Het |
| Snx13 |
G |
A |
12: 35,128,983 (GRCm39) |
A34T |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,226,424 (GRCm39) |
L193P |
probably damaging |
Het |
| Tia1 |
A |
T |
6: 86,407,321 (GRCm39) |
Y277F |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trappc2l |
T |
C |
8: 123,342,134 (GRCm39) |
F127L |
probably damaging |
Het |
| Ushbp1 |
G |
T |
8: 71,838,663 (GRCm39) |
Q588K |
possibly damaging |
Het |
| Usp43 |
T |
A |
11: 67,747,007 (GRCm39) |
H895L |
probably benign |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,275 (GRCm39) |
C155* |
probably null |
Het |
| Vmn2r8 |
T |
A |
5: 108,945,933 (GRCm39) |
D558V |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,688,228 (GRCm39) |
T860A |
probably benign |
Het |
| Vps50 |
A |
G |
6: 3,565,628 (GRCm39) |
N522S |
possibly damaging |
Het |
| Zfp180 |
T |
C |
7: 23,804,643 (GRCm39) |
F354S |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,021,984 (GRCm39) |
|
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 |
|
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 |
|
R8927: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'- GGTTTCCTAAGAAAGTCCTGGGCTG -3'
(R):5'- AACTGGTGGGCATTCTCCCCAAAG -3'
Sequencing Primer
(F):5'- TGGATAACTGGAGTCCCACTAC -3'
(R):5'- GCACCCAGGAAAGTGGC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation