Incidental Mutation 'R1593:Ccdc136'
ID |
175607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc136
|
Ensembl Gene |
ENSMUSG00000029769 |
Gene Name |
coiled-coil domain containing 136 |
Synonyms |
4921511K06Rik |
MMRRC Submission |
039630-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1593 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29415583 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 699
(S699P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093789
(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 damaging
Transcript: ENSMUST00000096084
AA Change: S699P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000093789 Gene: ENSMUSG00000029769 AA Change: S699P
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: S699P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110930 Gene: ENSMUSG00000029769 AA Change: S699P
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 damaging
Transcript: ENSMUST00000154619
AA Change: S541P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118132 Gene: ENSMUSG00000029769 AA Change: S541P
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 damaging
Transcript: ENSMUST00000180829
AA Change: S607P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137747 Gene: ENSMUSG00000029769 AA Change: S607P
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: S607P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137673 Gene: ENSMUSG00000029769 AA Change: S607P
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acly |
A |
T |
11: 100,372,581 (GRCm39) |
I902N |
possibly damaging |
Het |
Acsl6 |
A |
G |
11: 54,214,134 (GRCm39) |
D88G |
probably damaging |
Het |
Adam1a |
A |
C |
5: 121,657,706 (GRCm39) |
I529S |
probably benign |
Het |
Ap3b1 |
T |
C |
13: 94,638,435 (GRCm39) |
V838A |
unknown |
Het |
Arrdc2 |
T |
C |
8: 71,289,764 (GRCm39) |
Y280C |
probably damaging |
Het |
Atg10 |
T |
C |
13: 91,302,380 (GRCm39) |
T53A |
probably benign |
Het |
Cdc23 |
C |
A |
18: 34,769,379 (GRCm39) |
V462L |
possibly damaging |
Het |
Clcn6 |
C |
T |
4: 148,099,051 (GRCm39) |
A431T |
probably benign |
Het |
Cntn6 |
T |
G |
6: 104,809,541 (GRCm39) |
H525Q |
possibly damaging |
Het |
Ctr9 |
T |
C |
7: 110,642,060 (GRCm39) |
F296S |
possibly damaging |
Het |
Ctsq |
T |
A |
13: 61,183,986 (GRCm39) |
|
probably null |
Het |
Ehd1 |
A |
G |
19: 6,348,330 (GRCm39) |
D436G |
|
Het |
Epha6 |
A |
T |
16: 60,245,267 (GRCm39) |
F311I |
probably damaging |
Het |
Esrrg |
A |
T |
1: 187,798,582 (GRCm39) |
T150S |
possibly damaging |
Het |
Exoc2 |
C |
A |
13: 31,040,744 (GRCm39) |
R758L |
possibly damaging |
Het |
Exosc7 |
G |
C |
9: 122,961,058 (GRCm39) |
V242L |
probably benign |
Het |
Fcho2 |
T |
C |
13: 98,921,315 (GRCm39) |
D190G |
possibly damaging |
Het |
Fgd6 |
T |
C |
10: 93,880,894 (GRCm39) |
S583P |
probably damaging |
Het |
Frmd4a |
A |
G |
2: 4,477,999 (GRCm39) |
Y60C |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,091,150 (GRCm39) |
I815N |
probably damaging |
Het |
Grm2 |
A |
T |
9: 106,528,113 (GRCm39) |
L257Q |
probably damaging |
Het |
Hectd3 |
C |
A |
4: 116,854,217 (GRCm39) |
T289K |
possibly damaging |
Het |
Itgb4 |
T |
C |
11: 115,871,817 (GRCm39) |
V207A |
probably damaging |
Het |
Lamb3 |
A |
G |
1: 193,013,104 (GRCm39) |
E443G |
probably damaging |
Het |
Meis2 |
T |
A |
2: 115,830,745 (GRCm39) |
D256V |
probably damaging |
Het |
Muc4 |
A |
G |
16: 32,754,686 (GRCm38) |
N1520S |
probably benign |
Het |
Nckap1l |
A |
G |
15: 103,387,281 (GRCm39) |
R719G |
probably null |
Het |
Or6c210 |
A |
T |
10: 129,496,094 (GRCm39) |
R140* |
probably null |
Het |
Pabpc6 |
A |
T |
17: 9,886,742 (GRCm39) |
M603K |
probably damaging |
Het |
Pcnx2 |
C |
A |
8: 126,486,012 (GRCm39) |
R1862L |
probably benign |
Het |
Pgap6 |
T |
A |
17: 26,337,381 (GRCm39) |
I399N |
possibly damaging |
Het |
Pon2 |
T |
C |
6: 5,273,003 (GRCm39) |
D122G |
probably benign |
Het |
Ppig |
T |
A |
2: 69,579,425 (GRCm39) |
W378R |
unknown |
Het |
Ralgapa1 |
T |
A |
12: 55,817,488 (GRCm39) |
E389D |
probably damaging |
Het |
Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
Rarg |
A |
G |
15: 102,148,376 (GRCm39) |
F233L |
probably damaging |
Het |
Rasgrp2 |
T |
C |
19: 6,453,490 (GRCm39) |
F90L |
possibly damaging |
Het |
Rrp12 |
T |
A |
19: 41,851,680 (GRCm39) |
H1285L |
probably benign |
Het |
Slc16a13 |
C |
A |
11: 70,109,908 (GRCm39) |
A198S |
probably benign |
Het |
Spag9 |
A |
G |
11: 93,988,059 (GRCm39) |
D441G |
probably damaging |
Het |
Stxbp5l |
A |
G |
16: 36,936,414 (GRCm39) |
F1099S |
probably damaging |
Het |
Tex19.1 |
T |
A |
11: 121,038,079 (GRCm39) |
W146R |
probably damaging |
Het |
Tmod3 |
T |
C |
9: 75,418,445 (GRCm39) |
D197G |
probably benign |
Het |
Tpp2 |
A |
G |
1: 44,014,593 (GRCm39) |
H644R |
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,778,910 (GRCm39) |
V352A |
possibly damaging |
Het |
Tulp1 |
T |
C |
17: 28,581,675 (GRCm39) |
K233E |
probably damaging |
Het |
Vsir |
A |
G |
10: 60,193,737 (GRCm39) |
T67A |
possibly damaging |
Het |
Wdr49 |
T |
C |
3: 75,304,248 (GRCm39) |
N487S |
probably benign |
Het |
Zbtb20 |
A |
G |
16: 43,429,786 (GRCm39) |
N99S |
probably damaging |
Het |
Zfp583 |
C |
T |
7: 6,320,008 (GRCm39) |
G335S |
probably benign |
Het |
Zgrf1 |
T |
A |
3: 127,354,675 (GRCm39) |
V98E |
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 |
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'- CAGGAGCTGCTTTCAAAGCTGC -3'
(R):5'- AATGCCATGTTGTGGGGATAGAACC -3'
Sequencing Primer
(F):5'- GCTTTCAAAGCTGCAAGATCTG -3'
(R):5'- CAGTGGTCAGACAGACCTTC -3'
|
Posted On |
2014-04-24 |