Incidental Mutation 'IGL03354:Ccdc136'
ID |
419871 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ccdc136
|
Ensembl Gene |
ENSMUSG00000029769 |
Gene Name |
coiled-coil domain containing 136 |
Synonyms |
4921511K06Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03354
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29419102 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 808
(I808N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118132
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096084]
[ENSMUST00000115275]
[ENSMUST00000145310]
[ENSMUST00000154619]
[ENSMUST00000181464]
[ENSMUST00000202726]
[ENSMUST00000180829]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096084
AA Change: I966N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000093789 Gene: ENSMUSG00000029769 AA Change: I966N
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 damaging
Transcript: ENSMUST00000154619
AA Change: I808N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000118132 Gene: ENSMUSG00000029769 AA Change: I808N
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: ENSMUST00000181464
AA Change: I874N
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000137673 Gene: ENSMUSG00000029769 AA Change: I874N
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 |
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A430033K04Rik |
G |
A |
5: 138,645,041 (GRCm39) |
A309T |
possibly damaging |
Het |
Abca15 |
C |
A |
7: 119,993,711 (GRCm39) |
Y1310* |
probably null |
Het |
Adad1 |
G |
T |
3: 37,160,322 (GRCm39) |
C552F |
probably damaging |
Het |
Adam22 |
A |
G |
5: 8,208,890 (GRCm39) |
S180P |
possibly damaging |
Het |
Anxa10 |
A |
T |
8: 62,549,778 (GRCm39) |
D22E |
probably damaging |
Het |
Astn1 |
T |
C |
1: 158,516,174 (GRCm39) |
S1255P |
probably damaging |
Het |
Bhlhe41 |
T |
C |
6: 145,809,929 (GRCm39) |
T92A |
probably damaging |
Het |
Bicc1 |
G |
A |
10: 70,782,432 (GRCm39) |
P603S |
probably benign |
Het |
Camk2d |
T |
C |
3: 126,590,615 (GRCm39) |
|
probably null |
Het |
Cd200r3 |
C |
T |
16: 44,773,960 (GRCm39) |
A124V |
possibly damaging |
Het |
Cfap70 |
T |
C |
14: 20,482,050 (GRCm39) |
E310G |
probably damaging |
Het |
Cyp2d12 |
A |
T |
15: 82,443,162 (GRCm39) |
D357V |
probably damaging |
Het |
Dnah7b |
G |
A |
1: 46,124,849 (GRCm39) |
V173I |
probably damaging |
Het |
Dnajb4 |
T |
A |
3: 151,892,115 (GRCm39) |
E239D |
probably benign |
Het |
Dzip1 |
G |
A |
14: 119,149,981 (GRCm39) |
|
probably benign |
Het |
Emp2 |
A |
G |
16: 10,103,429 (GRCm39) |
I74T |
probably damaging |
Het |
Ermn |
T |
G |
2: 57,942,634 (GRCm39) |
E32A |
probably benign |
Het |
F10 |
C |
A |
8: 13,095,089 (GRCm39) |
T82N |
probably benign |
Het |
Fam227a |
T |
C |
15: 79,520,951 (GRCm39) |
D295G |
possibly damaging |
Het |
Gm527 |
T |
A |
12: 64,969,154 (GRCm39) |
F194I |
probably damaging |
Het |
Gmcl1 |
G |
A |
6: 86,703,140 (GRCm39) |
T98M |
probably damaging |
Het |
Gucy2g |
T |
C |
19: 55,221,512 (GRCm39) |
R330G |
possibly damaging |
Het |
H1f4 |
C |
T |
13: 23,806,060 (GRCm39) |
|
probably benign |
Het |
Kif1a |
T |
C |
1: 92,987,957 (GRCm39) |
H549R |
probably damaging |
Het |
Klhl14 |
T |
A |
18: 21,784,785 (GRCm39) |
D214V |
probably damaging |
Het |
Lipo2 |
A |
G |
19: 33,708,270 (GRCm39) |
F248S |
probably benign |
Het |
Mctp2 |
C |
T |
7: 71,810,992 (GRCm39) |
V661I |
probably benign |
Het |
Myh15 |
A |
T |
16: 48,992,373 (GRCm39) |
M1616L |
probably benign |
Het |
Nlrp4b |
A |
T |
7: 10,448,465 (GRCm39) |
I223F |
probably damaging |
Het |
Or1j18 |
A |
T |
2: 36,624,524 (GRCm39) |
S64C |
possibly damaging |
Het |
Or1j18 |
G |
T |
2: 36,624,525 (GRCm39) |
S64I |
possibly damaging |
Het |
Or2ad1 |
T |
C |
13: 21,326,654 (GRCm39) |
Y191C |
probably damaging |
Het |
Or2ag2 |
A |
G |
7: 106,485,307 (GRCm39) |
V239A |
probably benign |
Het |
Or2b28 |
T |
C |
13: 21,531,686 (GRCm39) |
V196A |
possibly damaging |
Het |
Or4c3d |
A |
C |
2: 89,881,911 (GRCm39) |
C252W |
probably damaging |
Het |
Or5p80 |
T |
A |
7: 108,229,735 (GRCm39) |
C179S |
possibly damaging |
Het |
Or5w1b |
T |
C |
2: 87,475,939 (GRCm39) |
N176S |
probably damaging |
Het |
Pcsk4 |
T |
C |
10: 80,161,893 (GRCm39) |
D116G |
probably damaging |
Het |
Pibf1 |
A |
G |
14: 99,388,174 (GRCm39) |
D440G |
probably benign |
Het |
Plekho2 |
T |
C |
9: 65,466,703 (GRCm39) |
E129G |
probably null |
Het |
Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
Rars1 |
A |
G |
11: 35,715,302 (GRCm39) |
L248P |
probably damaging |
Het |
Ruvbl1 |
C |
A |
6: 88,456,197 (GRCm39) |
Y90* |
probably null |
Het |
Schip1 |
A |
G |
3: 68,402,298 (GRCm39) |
D125G |
possibly damaging |
Het |
Skic3 |
T |
C |
13: 76,330,941 (GRCm39) |
V1457A |
possibly damaging |
Het |
Smarca2 |
T |
C |
19: 26,597,303 (GRCm39) |
S62P |
probably benign |
Het |
Sort1 |
T |
C |
3: 108,256,022 (GRCm39) |
V656A |
probably benign |
Het |
Tlr12 |
A |
G |
4: 128,509,730 (GRCm39) |
L840P |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,834,082 (GRCm39) |
I438N |
probably damaging |
Het |
Wdr11 |
C |
A |
7: 129,227,026 (GRCm39) |
F829L |
probably benign |
Het |
Zdhhc11 |
A |
T |
13: 74,127,264 (GRCm39) |
I214F |
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 |
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 |
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 |
|
|
Posted On |
2016-08-02 |