Incidental Mutation 'R5314:Ccdc136'
| ID |
405738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccdc136
|
| Ensembl Gene |
ENSMUSG00000029769 |
| Gene Name |
coiled-coil domain containing 136 |
| Synonyms |
4921511K06Rik |
| MMRRC Submission |
042897-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5314 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29396296-29426954 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29417497 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 707
(V707F)
|
| 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 benign
Transcript: ENSMUST00000096084
AA Change: V865F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000093789
Gene: ENSMUSG00000029769
AA Change: V865F
| 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: V865F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000110930
Gene: ENSMUSG00000029769
AA Change: V865F
| 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: V707F
PolyPhen 2
Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000118132
Gene: ENSMUSG00000029769
AA Change: V707F
| 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: V773F
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137747
Gene: ENSMUSG00000029769
AA Change: V773F
| 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: V773F
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000137673
Gene: ENSMUSG00000029769
AA Change: V773F
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432M17Rik |
T |
C |
3: 121,473,172 (GRCm39) |
F109S |
unknown |
Het |
| Ankhd1 |
A |
T |
18: 36,694,111 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,863,248 (GRCm39) |
|
probably null |
Het |
| Ccdc157 |
A |
T |
11: 4,100,078 (GRCm39) |
C91* |
probably null |
Het |
| Ceacam3 |
T |
A |
7: 16,892,296 (GRCm39) |
N346K |
possibly damaging |
Het |
| Cfap251 |
A |
G |
5: 123,460,626 (GRCm39) |
D1196G |
probably benign |
Het |
| Chd4 |
A |
G |
6: 125,077,551 (GRCm39) |
E74G |
probably damaging |
Het |
| Cntn1 |
A |
G |
15: 92,192,892 (GRCm39) |
M665V |
probably benign |
Het |
| Crtc2 |
C |
T |
3: 90,168,348 (GRCm39) |
Q364* |
probably null |
Het |
| Csf1r |
T |
A |
18: 61,262,796 (GRCm39) |
I857N |
probably damaging |
Het |
| Dner |
C |
T |
1: 84,558,460 (GRCm39) |
G168D |
probably damaging |
Het |
| Edar |
T |
C |
10: 58,443,182 (GRCm39) |
T315A |
probably benign |
Het |
| Egflam |
A |
G |
15: 7,333,493 (GRCm39) |
V153A |
probably damaging |
Het |
| Enoph1 |
T |
C |
5: 100,211,682 (GRCm39) |
I193T |
possibly damaging |
Het |
| Epc1 |
A |
G |
18: 6,462,969 (GRCm39) |
I9T |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,522,246 (GRCm39) |
I208F |
possibly damaging |
Het |
| Gm4841 |
A |
G |
18: 60,403,364 (GRCm39) |
V243A |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,869,534 (GRCm39) |
V4297A |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,677,960 (GRCm39) |
P106S |
probably benign |
Het |
| Kcnu1 |
A |
G |
8: 26,352,486 (GRCm39) |
T218A |
probably damaging |
Het |
| Kif1a |
A |
G |
1: 92,946,220 (GRCm39) |
S1677P |
probably damaging |
Het |
| Krt14 |
A |
T |
11: 100,095,526 (GRCm39) |
M293K |
probably damaging |
Het |
| Meis3 |
T |
A |
7: 15,917,989 (GRCm39) |
V307E |
probably damaging |
Het |
| Nadk2 |
A |
C |
15: 9,108,401 (GRCm39) |
I417L |
probably benign |
Het |
| Nav2 |
AAGCAGCAGCAGCAGCAGCAGCAGCA |
AAGCAGCAGCAGCAGCAGCAGCA |
7: 49,058,440 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
T |
2: 52,171,515 (GRCm39) |
N1659K |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,118,005 (GRCm39) |
T208A |
possibly damaging |
Het |
| Or10w1 |
T |
C |
19: 13,632,630 (GRCm39) |
V274A |
probably benign |
Het |
| Or8g32 |
T |
C |
9: 39,305,785 (GRCm39) |
S233P |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pde3b |
A |
T |
7: 114,093,772 (GRCm39) |
N339Y |
probably damaging |
Het |
| Pde8b |
A |
G |
13: 95,223,361 (GRCm39) |
F298L |
possibly damaging |
Het |
| Phtf1 |
G |
A |
3: 103,906,603 (GRCm39) |
R606H |
probably damaging |
Het |
| Psd4 |
A |
G |
2: 24,290,528 (GRCm39) |
D535G |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,905,121 (GRCm39) |
V130A |
probably damaging |
Het |
| Rbm11 |
T |
C |
16: 75,393,474 (GRCm39) |
F57L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,671,401 (GRCm39) |
V1334A |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,870,686 (GRCm39) |
E433G |
probably damaging |
Het |
| Sema6b |
G |
A |
17: 56,435,413 (GRCm39) |
R277* |
probably null |
Het |
| Sepsecs |
A |
T |
5: 52,805,015 (GRCm39) |
S349T |
probably benign |
Het |
| Slc35b2 |
T |
C |
17: 45,877,424 (GRCm39) |
Y184H |
probably damaging |
Het |
| Slc7a2 |
T |
C |
8: 41,368,067 (GRCm39) |
|
probably null |
Het |
| Smc1b |
T |
A |
15: 84,955,066 (GRCm39) |
Y1062F |
probably benign |
Het |
| Snrnp70 |
G |
A |
7: 45,026,476 (GRCm39) |
R298* |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Taar8c |
A |
T |
10: 23,977,246 (GRCm39) |
C189S |
probably damaging |
Het |
| Tas1r2 |
T |
A |
4: 139,382,672 (GRCm39) |
D103E |
probably damaging |
Het |
| Timd2 |
T |
C |
11: 46,568,087 (GRCm39) |
I236V |
probably benign |
Het |
| Tmem87a |
A |
G |
2: 120,208,407 (GRCm39) |
V316A |
probably damaging |
Het |
| Treml2 |
T |
A |
17: 48,607,601 (GRCm39) |
L16Q |
probably damaging |
Het |
| Zcchc14 |
G |
A |
8: 122,335,337 (GRCm39) |
|
probably benign |
Het |
| Zfp462 |
T |
C |
4: 55,013,178 (GRCm39) |
Y567H |
probably damaging |
Het |
| Zfp551 |
G |
A |
7: 12,150,087 (GRCm39) |
R441* |
probably null |
Het |
| Zfp930 |
A |
G |
8: 69,679,373 (GRCm39) |
I59M |
probably benign |
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 |
|
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'- AGAACTTCCACAGGAGTTACGAG -3'
(R):5'- AGCAGAAGTCTTCCATACTCCG -3'
Sequencing Primer
(F):5'- TTCCACAGGAGTTACGAGAGCTC -3'
(R):5'- GAAGTCTTCCATACTCCGAGCCTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation