Incidental Mutation 'R6640:Ccdc136'
| ID |
525712 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc136
|
| Ensembl Gene |
ENSMUSG00000029769 |
| Gene Name |
coiled-coil domain containing 136 |
| Synonyms |
4921511K06Rik |
| MMRRC Submission |
044761-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6640 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29412959 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 382
(D382G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118132
(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: D540G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: D540G
| 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 |
possibly damaging
Transcript: ENSMUST00000115275
AA Change: D540G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: D540G
| 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 |
possibly damaging
Transcript: ENSMUST00000154619
AA Change: D382G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: D382G
| 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: D448G
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: D448G
| 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 |
possibly damaging
Transcript: ENSMUST00000181464
AA Change: D448G
PolyPhen 2
Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: D448G
| 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 |
0.0716 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
97% (31/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
T |
6: 128,530,248 (GRCm39) |
N936K |
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,337,015 (GRCm39) |
Y2318F |
possibly damaging |
Het |
| Aldh1b1 |
A |
G |
4: 45,803,868 (GRCm39) |
T469A |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,954,605 (GRCm39) |
D581G |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,864,628 (GRCm39) |
K141E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,001,276 (GRCm39) |
W3973R |
probably damaging |
Het |
| Dock10 |
G |
T |
1: 80,511,555 (GRCm39) |
S1518* |
probably null |
Het |
| Elovl5 |
C |
A |
9: 77,887,195 (GRCm39) |
Y195* |
probably null |
Het |
| Fbxl21 |
T |
A |
13: 56,684,822 (GRCm39) |
W309R |
probably damaging |
Het |
| Gm10801 |
C |
CGTG |
2: 98,494,152 (GRCm39) |
|
probably null |
Het |
| Gpx1 |
A |
G |
9: 108,217,295 (GRCm39) |
D133G |
probably damaging |
Het |
| Hoxd1 |
T |
A |
2: 74,593,606 (GRCm39) |
V54E |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,139,649 (GRCm39) |
V876A |
probably benign |
Het |
| Klri2 |
G |
C |
6: 129,709,158 (GRCm39) |
F231L |
probably benign |
Het |
| Mogat1 |
T |
G |
1: 78,500,411 (GRCm39) |
S158R |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Or2ag13 |
T |
A |
7: 106,313,247 (GRCm39) |
I214F |
probably damaging |
Het |
| Or8k16 |
T |
A |
2: 85,520,279 (GRCm39) |
C169S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,911,167 (GRCm39) |
A673T |
possibly damaging |
Het |
| Pigm |
T |
C |
1: 172,205,254 (GRCm39) |
V330A |
probably damaging |
Het |
| Rab33b |
A |
G |
3: 51,391,900 (GRCm39) |
T50A |
possibly damaging |
Het |
| Raver2 |
C |
T |
4: 100,988,500 (GRCm39) |
P371L |
probably damaging |
Het |
| Rpl15-ps6 |
G |
T |
15: 52,341,016 (GRCm39) |
|
noncoding transcript |
Het |
| Sh3rf2 |
T |
A |
18: 42,234,705 (GRCm39) |
Y163N |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,871,970 (GRCm39) |
|
probably null |
Het |
| Slc6a18 |
T |
A |
13: 73,812,401 (GRCm39) |
Y563F |
possibly damaging |
Het |
| Sp3 |
A |
G |
2: 72,801,458 (GRCm39) |
L185P |
possibly damaging |
Het |
| Thbs2 |
T |
C |
17: 14,893,630 (GRCm39) |
D850G |
possibly damaging |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
A |
10: 105,409,610 (GRCm39) |
M1L |
probably benign |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,955,946 (GRCm39) |
I1126K |
probably damaging |
Het |
| Ugt1a6b |
A |
C |
1: 88,035,516 (GRCm39) |
T285P |
probably benign |
Het |
| Vps13b |
A |
G |
15: 35,617,842 (GRCm39) |
T1181A |
possibly damaging |
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 |
|
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'- AAGCCTGTTAAGGATAGGTCTG -3'
(R):5'- TTCTACCTTCAGTTGGGCGAC -3'
Sequencing Primer
(F):5'- AAGGATAGGTCTGTTTGGTTCTCCC -3'
(R):5'- GGCGACCTTGTCTGCTTC -3'
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| Posted On |
2018-06-22 |
Incidental Mutation