Incidental Mutation 'R0436:Ccdc136'
ID |
39001 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ccdc136
|
Ensembl Gene |
ENSMUSG00000029769 |
Gene Name |
coiled-coil domain containing 136 |
Synonyms |
4921511K06Rik |
MMRRC Submission |
038637-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0436 (G1)
|
Quality Score |
178 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 29414933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Glutamine
at position 474
(L474Q)
|
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 |
probably damaging
Transcript: ENSMUST00000096084
AA Change: L632Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093789 Gene: ENSMUSG00000029769 AA Change: L632Q
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: L632Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000110930 Gene: ENSMUSG00000029769 AA Change: L632Q
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: L474Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118132 Gene: ENSMUSG00000029769 AA Change: L474Q
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: L540Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137747 Gene: ENSMUSG00000029769 AA Change: L540Q
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: L540Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000137673 Gene: ENSMUSG00000029769 AA Change: L540Q
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 |
0.1247 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 93.4%
|
Validation Efficiency |
100% (66/66) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933430I17Rik |
T |
C |
4: 62,461,682 (GRCm39) |
|
probably benign |
Het |
Abcb10 |
C |
T |
8: 124,697,740 (GRCm39) |
G195S |
probably benign |
Het |
Adrb2 |
A |
G |
18: 62,312,624 (GRCm39) |
V67A |
possibly damaging |
Het |
Alx4 |
A |
T |
2: 93,498,702 (GRCm39) |
K145* |
probably null |
Het |
Arl8a |
G |
A |
1: 135,074,718 (GRCm39) |
M1I |
probably null |
Het |
Btbd16 |
G |
A |
7: 130,387,783 (GRCm39) |
S134N |
probably benign |
Het |
Cebpz |
A |
G |
17: 79,243,079 (GRCm39) |
Y192H |
probably benign |
Het |
Cep95 |
A |
G |
11: 106,709,511 (GRCm39) |
Q109R |
probably null |
Het |
Cfap54 |
G |
T |
10: 92,874,837 (GRCm39) |
Q520K |
possibly damaging |
Het |
Cog2 |
C |
T |
8: 125,275,253 (GRCm39) |
|
probably benign |
Het |
Cul1 |
A |
G |
6: 47,500,707 (GRCm39) |
N702S |
probably benign |
Het |
D430041D05Rik |
G |
C |
2: 103,998,295 (GRCm39) |
P1836R |
probably damaging |
Het |
Dmxl2 |
T |
C |
9: 54,291,034 (GRCm39) |
D2472G |
probably damaging |
Het |
Drgx |
T |
C |
14: 32,330,040 (GRCm39) |
F81S |
probably damaging |
Het |
Ect2 |
A |
G |
3: 27,204,244 (GRCm39) |
F22L |
probably benign |
Het |
Ehd4 |
A |
T |
2: 119,932,822 (GRCm39) |
D201E |
probably damaging |
Het |
Eif4ebp3 |
A |
G |
18: 36,797,354 (GRCm39) |
|
probably null |
Het |
Exd2 |
T |
C |
12: 80,537,544 (GRCm39) |
|
probably benign |
Het |
Gtf2a1 |
A |
C |
12: 91,535,047 (GRCm39) |
|
probably null |
Het |
H2-DMb1 |
A |
G |
17: 34,378,630 (GRCm39) |
Y256C |
probably damaging |
Het |
Haus6 |
T |
C |
4: 86,504,044 (GRCm39) |
R527G |
probably benign |
Het |
Helb |
C |
T |
10: 119,930,117 (GRCm39) |
|
probably benign |
Het |
Hhatl |
C |
T |
9: 121,617,828 (GRCm39) |
A254T |
probably benign |
Het |
Hk1 |
A |
T |
10: 62,135,054 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,295,624 (GRCm39) |
K2611R |
probably damaging |
Het |
Hrc |
A |
G |
7: 44,985,557 (GRCm39) |
H236R |
possibly damaging |
Het |
Hunk |
T |
A |
16: 90,261,042 (GRCm39) |
Y178N |
probably damaging |
Het |
Iftap |
T |
C |
2: 101,440,864 (GRCm39) |
|
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,691,234 (GRCm39) |
Q616* |
probably null |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Msantd4 |
C |
T |
9: 4,385,180 (GRCm39) |
R302C |
probably damaging |
Het |
Nae1 |
T |
C |
8: 105,249,868 (GRCm39) |
|
probably benign |
Het |
Nek4 |
C |
T |
14: 30,692,429 (GRCm39) |
L293F |
probably damaging |
Het |
Odf2l |
C |
T |
3: 144,831,877 (GRCm39) |
T44I |
possibly damaging |
Het |
Or52s19 |
A |
G |
7: 103,007,948 (GRCm39) |
V151A |
possibly damaging |
Het |
Otog |
G |
A |
7: 45,915,360 (GRCm39) |
|
probably benign |
Het |
Ppp1r21 |
C |
T |
17: 88,873,117 (GRCm39) |
T425I |
possibly damaging |
Het |
Prrc2b |
A |
G |
2: 32,120,672 (GRCm39) |
E2204G |
probably damaging |
Het |
Prrc2c |
A |
C |
1: 162,532,883 (GRCm39) |
|
probably benign |
Het |
Ptgs2 |
T |
C |
1: 149,980,028 (GRCm39) |
|
probably benign |
Het |
Slc12a8 |
T |
A |
16: 33,371,455 (GRCm39) |
V197E |
probably damaging |
Het |
Syne3 |
A |
G |
12: 104,913,183 (GRCm39) |
W593R |
possibly damaging |
Het |
Tmem63a |
A |
T |
1: 180,800,298 (GRCm39) |
T696S |
probably benign |
Het |
Tnks2 |
A |
G |
19: 36,826,758 (GRCm39) |
D165G |
possibly damaging |
Het |
Trim43a |
T |
C |
9: 88,470,240 (GRCm39) |
W349R |
probably damaging |
Het |
Unc45b |
T |
C |
11: 82,820,393 (GRCm39) |
|
probably benign |
Het |
Vmn1r4 |
T |
A |
6: 56,933,947 (GRCm39) |
N150K |
probably damaging |
Het |
Wdfy4 |
C |
A |
14: 32,805,769 (GRCm39) |
|
probably benign |
Het |
Wdr77 |
T |
A |
3: 105,867,342 (GRCm39) |
D63E |
probably damaging |
Het |
Zan |
T |
C |
5: 137,463,164 (GRCm39) |
T672A |
unknown |
Het |
Zdhhc17 |
A |
T |
10: 110,817,851 (GRCm39) |
|
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCCTGACCCATAGTGTGATGCTCTG -3'
(R):5'- CGATTAAGGAAGAAACGCCCTCCTC -3'
Sequencing Primer
(F):5'- AGATGGAACAGTGTGAGCTC -3'
(R):5'- CAGTTCACAAACTGATTTCAGGTG -3'
|
Posted On |
2013-05-23 |