Incidental Mutation 'R5520:Cc2d1b'
| ID |
431494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d1b
|
| Ensembl Gene |
ENSMUSG00000028582 |
| Gene Name |
coiled-coil and C2 domain containing 1B |
| Synonyms |
Freud2, A830039B04Rik |
| MMRRC Submission |
043079-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.615)
|
| Stock # |
R5520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
108477137-108491320 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 108483556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 331
(M331T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030320
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030320]
|
| AlphaFold |
Q8BRN9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030320
AA Change: M331T
PolyPhen 2
Score 0.532 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
AA Change: M331T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
59 |
N/A |
INTRINSIC |
|
low complexity region
|
90 |
110 |
N/A |
INTRINSIC |
|
DM14
|
167 |
224 |
1.11e-20 |
SMART |
|
DM14
|
278 |
335 |
5.07e-24 |
SMART |
|
low complexity region
|
370 |
382 |
N/A |
INTRINSIC |
|
DM14
|
383 |
441 |
8.62e-27 |
SMART |
|
low complexity region
|
487 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
509 |
522 |
N/A |
INTRINSIC |
|
DM14
|
527 |
585 |
6.44e-26 |
SMART |
|
coiled coil region
|
604 |
626 |
N/A |
INTRINSIC |
|
C2
|
690 |
804 |
8.05e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000106665
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126156
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134844
AA Change: M252T
|
| SMART Domains |
Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
AA Change: M252T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
51 |
N/A |
INTRINSIC |
|
DM14
|
108 |
165 |
1.11e-20 |
SMART |
|
DM14
|
200 |
257 |
5.07e-24 |
SMART |
|
low complexity region
|
292 |
304 |
N/A |
INTRINSIC |
|
DM14
|
305 |
363 |
8.62e-27 |
SMART |
|
low complexity region
|
409 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
444 |
N/A |
INTRINSIC |
|
DM14
|
449 |
507 |
6.44e-26 |
SMART |
|
coiled coil region
|
525 |
547 |
N/A |
INTRINSIC |
|
C2
|
612 |
726 |
8.05e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139962
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150199
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176846
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193462
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176877
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.6%
- 10x: 94.8%
- 20x: 88.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
T |
A |
4: 144,504,594 (GRCm39) |
T186S |
probably benign |
Het |
| AI467606 |
C |
T |
7: 126,691,998 (GRCm39) |
P191L |
probably benign |
Het |
| Aoc1l1 |
C |
A |
6: 48,952,728 (GRCm39) |
Q218K |
possibly damaging |
Het |
| Arl9 |
T |
C |
5: 77,154,440 (GRCm39) |
V56A |
probably damaging |
Het |
| Cacng5 |
T |
C |
11: 107,768,248 (GRCm39) |
Q253R |
probably benign |
Het |
| Cep97 |
A |
G |
16: 55,735,659 (GRCm39) |
S380P |
probably benign |
Het |
| Clpx |
A |
T |
9: 65,224,730 (GRCm39) |
K153* |
probably null |
Het |
| Dclk2 |
A |
G |
3: 86,827,147 (GRCm39) |
S111P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,595,806 (GRCm39) |
E167G |
probably damaging |
Het |
| Edn1 |
T |
C |
13: 42,455,436 (GRCm39) |
|
probably null |
Het |
| Farp1 |
C |
T |
14: 121,472,489 (GRCm39) |
P208L |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,520,589 (GRCm39) |
H257N |
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,146,414 (GRCm39) |
T22A |
probably benign |
Het |
| Gm17019 |
A |
T |
5: 15,082,819 (GRCm39) |
M45K |
possibly damaging |
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Grk1 |
T |
A |
8: 13,459,305 (GRCm39) |
D285E |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,624,105 (GRCm39) |
D625V |
possibly damaging |
Het |
| Igkv1-135 |
C |
T |
6: 67,587,324 (GRCm39) |
P65L |
possibly damaging |
Het |
| Lepr |
T |
C |
4: 101,602,734 (GRCm39) |
L174P |
probably benign |
Het |
| Nphp3 |
A |
G |
9: 103,901,872 (GRCm39) |
S689G |
probably benign |
Het |
| Or14c44 |
T |
A |
7: 86,062,064 (GRCm39) |
S165T |
probably benign |
Het |
| Or5w20 |
T |
C |
2: 87,726,753 (GRCm39) |
|
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,284,367 (GRCm39) |
Y812H |
probably benign |
Het |
| Plxnb2 |
T |
G |
15: 89,051,746 (GRCm39) |
T158P |
possibly damaging |
Het |
| Pramel32 |
A |
C |
4: 88,548,277 (GRCm39) |
S43A |
probably damaging |
Het |
| R3hcc1 |
T |
A |
14: 69,936,057 (GRCm39) |
K437* |
probably null |
Het |
| Rnf213 |
C |
A |
11: 119,324,325 (GRCm39) |
H1428Q |
probably damaging |
Het |
| Ro60 |
A |
T |
1: 143,646,509 (GRCm39) |
S79T |
probably benign |
Het |
| Spata31e2 |
A |
T |
1: 26,724,900 (GRCm39) |
N93K |
probably benign |
Het |
| Ssx2ip |
G |
A |
3: 146,143,066 (GRCm39) |
R548H |
probably benign |
Het |
| Trim23 |
C |
T |
13: 104,324,035 (GRCm39) |
R165C |
probably damaging |
Het |
| Ulk2 |
T |
G |
11: 61,698,970 (GRCm39) |
T405P |
probably damaging |
Het |
| Unkl |
G |
A |
17: 25,424,584 (GRCm39) |
V204I |
probably damaging |
Het |
| Vmn1r43 |
T |
C |
6: 89,846,728 (GRCm39) |
T253A |
probably damaging |
Het |
| Zfp534 |
T |
C |
4: 147,759,887 (GRCm39) |
I261V |
possibly damaging |
Het |
|
| Other mutations in Cc2d1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Cc2d1b
|
APN |
4 |
108,484,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00507:Cc2d1b
|
APN |
4 |
108,486,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00596:Cc2d1b
|
APN |
4 |
108,484,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Cc2d1b
|
APN |
4 |
108,483,333 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02937:Cc2d1b
|
APN |
4 |
108,489,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Cc2d1b
|
UTSW |
4 |
108,483,013 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1513:Cc2d1b
|
UTSW |
4 |
108,490,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1592:Cc2d1b
|
UTSW |
4 |
108,483,868 (GRCm39) |
unclassified |
probably benign |
|
|
R1663:Cc2d1b
|
UTSW |
4 |
108,480,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Cc2d1b
|
UTSW |
4 |
108,482,549 (GRCm39) |
intron |
probably benign |
|
|
R4361:Cc2d1b
|
UTSW |
4 |
108,481,947 (GRCm39) |
intron |
probably benign |
|
|
R4739:Cc2d1b
|
UTSW |
4 |
108,485,239 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5068:Cc2d1b
|
UTSW |
4 |
108,480,661 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5152:Cc2d1b
|
UTSW |
4 |
108,483,283 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5271:Cc2d1b
|
UTSW |
4 |
108,480,826 (GRCm39) |
intron |
probably benign |
|
|
R6196:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6197:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6198:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Cc2d1b
|
UTSW |
4 |
108,490,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Cc2d1b
|
UTSW |
4 |
108,485,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7244:Cc2d1b
|
UTSW |
4 |
108,486,799 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7293:Cc2d1b
|
UTSW |
4 |
108,488,873 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8105:Cc2d1b
|
UTSW |
4 |
108,485,130 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8835:Cc2d1b
|
UTSW |
4 |
108,484,264 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8991:Cc2d1b
|
UTSW |
4 |
108,482,143 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9022:Cc2d1b
|
UTSW |
4 |
108,484,617 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9068:Cc2d1b
|
UTSW |
4 |
108,482,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9196:Cc2d1b
|
UTSW |
4 |
108,485,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGGTGCCCTACTGTCATTTAGTAG -3'
(R):5'- GCATTTGCTCTACTGCTGGG -3'
Sequencing Primer
(F):5'- CTACTGTCATTTAGTAGATGGGAAGC -3'
(R):5'- GGACAGGCCTTGGGTTGC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation