Incidental Mutation 'R1592:Cc2d1b'
| ID |
175666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cc2d1b
|
| Ensembl Gene |
ENSMUSG00000028582 |
| Gene Name |
coiled-coil and C2 domain containing 1B |
| Synonyms |
Freud2, A830039B04Rik |
| MMRRC Submission |
039629-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.631)
|
| Stock # |
R1592 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
108477137-108491320 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 108483868 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030320]
|
| AlphaFold |
Q8BRN9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030320
|
| SMART Domains |
Protein: ENSMUSP00000030320
Gene: ENSMUSG00000028582
| 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 |
probably benign
Transcript: ENSMUST00000134844
|
| SMART Domains |
Protein: ENSMUSP00000123277
Gene: ENSMUSG00000028582
| 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: ENSMUST00000176877
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193462
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.9%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad10 |
T |
C |
5: 121,783,444 (GRCm39) |
E327G |
probably damaging |
Het |
| Acp5 |
A |
T |
9: 22,039,147 (GRCm39) |
W189R |
probably damaging |
Het |
| Adamts8 |
T |
C |
9: 30,854,472 (GRCm39) |
S114P |
probably damaging |
Het |
| Alkbh3 |
A |
C |
2: 93,838,769 (GRCm39) |
|
probably null |
Het |
| Ankrd13d |
T |
C |
19: 4,332,919 (GRCm39) |
H27R |
probably benign |
Het |
| Aox1 |
A |
G |
1: 58,339,853 (GRCm39) |
N382S |
probably benign |
Het |
| Aspg |
G |
A |
12: 112,086,406 (GRCm39) |
R220Q |
probably benign |
Het |
| Atg16l2 |
C |
A |
7: 100,941,193 (GRCm39) |
G403V |
probably damaging |
Het |
| Bcat1 |
G |
T |
6: 144,955,784 (GRCm39) |
Q299K |
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,684 (GRCm39) |
F81S |
probably damaging |
Het |
| Cnbd2 |
A |
G |
2: 156,177,322 (GRCm39) |
I222M |
probably benign |
Het |
| Ephb3 |
T |
C |
16: 21,040,450 (GRCm39) |
V562A |
probably damaging |
Het |
| Fam186a |
T |
C |
15: 99,838,199 (GRCm39) |
T2682A |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,182,696 (GRCm39) |
|
probably null |
Het |
| Fat4 |
A |
T |
3: 39,061,326 (GRCm39) |
D4303V |
probably damaging |
Het |
| Fbln1 |
T |
A |
15: 85,115,665 (GRCm39) |
S234T |
probably benign |
Het |
| Gldc |
G |
A |
19: 30,138,077 (GRCm39) |
|
probably benign |
Het |
| Gli1 |
A |
C |
10: 127,167,198 (GRCm39) |
V685G |
probably damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,469 (GRCm39) |
N152S |
probably damaging |
Het |
| Inpp5d |
A |
T |
1: 87,593,254 (GRCm39) |
D118V |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,255,555 (GRCm39) |
I182V |
possibly damaging |
Het |
| Ipcef1 |
C |
T |
10: 6,885,182 (GRCm39) |
|
probably null |
Het |
| Kcnj3 |
G |
T |
2: 55,327,898 (GRCm39) |
R229L |
probably damaging |
Het |
| Klf11 |
C |
A |
12: 24,703,737 (GRCm39) |
D57E |
probably damaging |
Het |
| Krt73 |
G |
T |
15: 101,710,674 (GRCm39) |
S20* |
probably null |
Het |
| Lactbl1 |
A |
G |
4: 136,363,187 (GRCm39) |
|
probably null |
Het |
| Mapk10 |
T |
C |
5: 103,186,487 (GRCm39) |
D45G |
possibly damaging |
Het |
| Mfrp |
G |
A |
9: 44,014,519 (GRCm39) |
C222Y |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,147 (GRCm39) |
I2944F |
possibly damaging |
Het |
| Msh2 |
A |
G |
17: 87,987,441 (GRCm39) |
|
probably null |
Het |
| Nckap1l |
T |
A |
15: 103,390,607 (GRCm39) |
|
probably null |
Het |
| Or5m9 |
A |
G |
2: 85,877,333 (GRCm39) |
N169S |
probably benign |
Het |
| Pitpnm1 |
T |
A |
19: 4,156,964 (GRCm39) |
|
probably null |
Het |
| Sik2 |
C |
T |
9: 50,906,971 (GRCm39) |
V85I |
probably damaging |
Het |
| Slc26a7 |
T |
A |
4: 14,552,470 (GRCm39) |
E229V |
probably benign |
Het |
| Spty2d1 |
A |
T |
7: 46,648,637 (GRCm39) |
D97E |
possibly damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tdrd3 |
T |
A |
14: 87,743,322 (GRCm39) |
N417K |
probably damaging |
Het |
| Uggt1 |
C |
A |
1: 36,241,939 (GRCm39) |
A332S |
probably benign |
Het |
| Usp53 |
A |
T |
3: 122,727,699 (GRCm39) |
L961* |
probably null |
Het |
| Vmn1r223 |
A |
T |
13: 23,433,837 (GRCm39) |
T144S |
possibly damaging |
Het |
| Wdfy1 |
G |
A |
1: 79,683,972 (GRCm39) |
R388C |
probably damaging |
Het |
| Zfp995 |
T |
A |
17: 22,106,321 (GRCm39) |
M1L |
probably 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 |
|
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 |
|
|
R5520:Cc2d1b
|
UTSW |
4 |
108,483,556 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
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'- AGCTATACAGCACCTGCGTGAGAG -3'
(R):5'- GCAATGGGCTTACCTTGGCAATG -3'
Sequencing Primer
(F):5'- ACTCAGGGAGTCATTTCAGGC -3'
(R):5'- AATGCGATCGTGCATCCT -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation