Incidental Mutation 'IGL01325:Ccdc136'
| ID |
74215 |
| 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 # |
IGL01325
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29412949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 445
(F445L)
|
| 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: F537L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: F537L
| 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
AA Change: F537L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: F537L
| 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: F379L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: F379L
| 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
AA Change: F445L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: F445L
| 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: F445L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: F445L
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,347 (GRCm39) |
T127A |
probably damaging |
Het |
| Acrv1 |
T |
A |
9: 36,609,810 (GRCm39) |
M227K |
probably benign |
Het |
| Adam22 |
T |
C |
5: 8,177,333 (GRCm39) |
N592S |
probably benign |
Het |
| Adamts15 |
T |
A |
9: 30,832,984 (GRCm39) |
I184F |
possibly damaging |
Het |
| Adcy1 |
T |
C |
11: 7,014,102 (GRCm39) |
V168A |
possibly damaging |
Het |
| Arl6ip5 |
T |
C |
6: 97,209,501 (GRCm39) |
F179L |
probably benign |
Het |
| Asxl2 |
G |
T |
12: 3,477,172 (GRCm39) |
R6L |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,982,049 (GRCm39) |
|
probably benign |
Het |
| Cpne3 |
T |
C |
4: 19,535,229 (GRCm39) |
S268G |
probably benign |
Het |
| Crtc3 |
C |
T |
7: 80,327,116 (GRCm39) |
R70Q |
probably damaging |
Het |
| Fam169a |
C |
A |
13: 97,259,207 (GRCm39) |
A421E |
probably benign |
Het |
| Fhod1 |
A |
T |
8: 106,058,281 (GRCm39) |
M825K |
probably benign |
Het |
| Gjb2 |
T |
C |
14: 57,337,678 (GRCm39) |
T177A |
probably benign |
Het |
| Gm6576 |
A |
G |
15: 27,025,970 (GRCm39) |
|
noncoding transcript |
Het |
| Herpud2 |
A |
G |
9: 25,025,207 (GRCm39) |
V175A |
probably benign |
Het |
| Hmgxb3 |
T |
C |
18: 61,267,078 (GRCm39) |
D1052G |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,358,169 (GRCm39) |
F578L |
probably benign |
Het |
| Kdm7a |
T |
G |
6: 39,135,243 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
A |
T |
15: 101,793,323 (GRCm39) |
S572T |
unknown |
Het |
| Lrrcc1 |
T |
C |
3: 14,601,601 (GRCm39) |
|
probably null |
Het |
| Marchf9 |
A |
C |
10: 126,893,459 (GRCm39) |
V183G |
probably damaging |
Het |
| Mrtfb |
T |
C |
16: 13,219,088 (GRCm39) |
V578A |
probably damaging |
Het |
| Ndufaf6 |
A |
T |
4: 11,070,251 (GRCm39) |
D123E |
probably benign |
Het |
| Nhlh2 |
T |
G |
3: 101,920,342 (GRCm39) |
Y125D |
probably damaging |
Het |
| Nol4l |
A |
G |
2: 153,278,271 (GRCm39) |
|
probably benign |
Het |
| Npas1 |
C |
T |
7: 16,197,247 (GRCm39) |
G206D |
probably benign |
Het |
| Or52h9 |
T |
C |
7: 104,202,896 (GRCm39) |
F257L |
probably damaging |
Het |
| Or5ak24 |
C |
A |
2: 85,260,639 (GRCm39) |
C178F |
possibly damaging |
Het |
| Pcdhb4 |
T |
A |
18: 37,442,676 (GRCm39) |
V662E |
probably damaging |
Het |
| Plxna3 |
G |
A |
X: 73,379,400 (GRCm39) |
G758S |
probably damaging |
Het |
| Prdm15 |
T |
A |
16: 97,607,717 (GRCm39) |
N709Y |
probably damaging |
Het |
| Pygo2 |
C |
T |
3: 89,339,753 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,120 (GRCm39) |
S947T |
probably damaging |
Het |
| Rasgrp1 |
T |
A |
2: 117,129,010 (GRCm39) |
H203L |
probably damaging |
Het |
| Rbbp6 |
G |
A |
7: 122,587,841 (GRCm39) |
G270R |
probably damaging |
Het |
| Rcl1 |
A |
G |
19: 29,098,662 (GRCm39) |
|
probably null |
Het |
| Rpl23a-ps1 |
T |
C |
1: 46,020,793 (GRCm39) |
|
noncoding transcript |
Het |
| Serpinb7 |
T |
G |
1: 107,363,110 (GRCm39) |
H91Q |
probably damaging |
Het |
| Shd |
C |
T |
17: 56,279,839 (GRCm39) |
P111S |
possibly damaging |
Het |
| Slc35e1 |
G |
T |
8: 73,237,602 (GRCm39) |
|
probably benign |
Het |
| Srgap3 |
C |
T |
6: 112,752,647 (GRCm39) |
R279H |
probably damaging |
Het |
| Sstr4 |
G |
A |
2: 148,237,472 (GRCm39) |
E28K |
probably benign |
Het |
| Stip1 |
T |
C |
19: 6,998,464 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,973,288 (GRCm39) |
E1097G |
probably benign |
Het |
| Tbcd |
T |
A |
11: 121,431,819 (GRCm39) |
V489E |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,849,033 (GRCm39) |
S516R |
probably benign |
Het |
| Trmt44 |
T |
A |
5: 35,726,147 (GRCm39) |
R343S |
possibly damaging |
Het |
| Trps1 |
A |
G |
15: 50,710,210 (GRCm39) |
S47P |
probably benign |
Het |
| Ubr3 |
A |
C |
2: 69,747,441 (GRCm39) |
K235Q |
possibly damaging |
Het |
| Uckl1 |
G |
A |
2: 181,216,754 (GRCm39) |
Q48* |
probably null |
Het |
| Vat1 |
T |
C |
11: 101,356,541 (GRCm39) |
D140G |
probably benign |
Het |
| Vmn2r80 |
A |
G |
10: 79,030,081 (GRCm39) |
T636A |
possibly damaging |
Het |
| Zfp423 |
A |
T |
8: 88,508,239 (GRCm39) |
|
probably null |
Het |
| Zfp667 |
C |
A |
7: 6,293,545 (GRCm39) |
T15N |
probably 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 |
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation