Incidental Mutation 'R6386:Cc2d1a'
ID |
515607 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cc2d1a
|
Ensembl Gene |
ENSMUSG00000036686 |
Gene Name |
coiled-coil and C2 domain containing 1A |
Synonyms |
Tape, Freud-1 |
MMRRC Submission |
044535-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.481)
|
Stock # |
R6386 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
84859457-84874546 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 84865166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 469
(M469T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000112556
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040383]
[ENSMUST00000117424]
|
AlphaFold |
Q8K1A6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040383
AA Change: M515T
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000046449 Gene: ENSMUSG00000036686 AA Change: M515T
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
DM14
|
137 |
194 |
1.02e-14 |
SMART |
low complexity region
|
195 |
206 |
N/A |
INTRINSIC |
low complexity region
|
229 |
238 |
N/A |
INTRINSIC |
DM14
|
250 |
308 |
8.7e-23 |
SMART |
DM14
|
342 |
400 |
7.44e-31 |
SMART |
low complexity region
|
457 |
478 |
N/A |
INTRINSIC |
DM14
|
487 |
545 |
4.62e-27 |
SMART |
C2
|
649 |
763 |
5.08e-8 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000117424
AA Change: M469T
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000112556 Gene: ENSMUSG00000036686 AA Change: M469T
Domain | Start | End | E-Value | Type |
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
low complexity region
|
83 |
110 |
N/A |
INTRINSIC |
low complexity region
|
150 |
161 |
N/A |
INTRINSIC |
low complexity region
|
184 |
193 |
N/A |
INTRINSIC |
DM14
|
205 |
263 |
8.7e-23 |
SMART |
DM14
|
297 |
355 |
7.44e-31 |
SMART |
low complexity region
|
411 |
432 |
N/A |
INTRINSIC |
DM14
|
441 |
499 |
4.62e-27 |
SMART |
C2
|
603 |
717 |
5.08e-8 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154029
|
Meta Mutation Damage Score |
0.0794 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.6%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional repressor that binds to a conserved 14-bp 5'-repressor element and regulates expression of the 5-hydroxytryptamine (serotonin) receptor 1A gene in neuronal cells. The DNA binding and transcriptional repressor activities of the protein are inhibited by calcium. A mutation in this gene results in nonsyndromic mental retardation-3.[provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial neonatal lethality, reduced body weight, hunched posture, respiratory distress, increased sensitivity of neurons to hydrogen peroxide, reduced dendrite length, abnormal brain vasculature and reduced synaptic number and density. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ak6 |
TGACGA |
TGA |
13: 100,792,311 (GRCm39) |
|
probably benign |
Het |
Arap2 |
A |
T |
5: 62,761,865 (GRCm39) |
N1620K |
possibly damaging |
Het |
Atf6b |
T |
C |
17: 34,870,825 (GRCm39) |
S396P |
probably damaging |
Het |
Ceacam3 |
A |
G |
7: 16,892,144 (GRCm39) |
N296D |
probably benign |
Het |
Cep57l1 |
A |
T |
10: 41,619,128 (GRCm39) |
S80T |
probably damaging |
Het |
Clip4 |
C |
A |
17: 72,141,189 (GRCm39) |
Y514* |
probably null |
Het |
Cop1 |
T |
C |
1: 159,116,601 (GRCm39) |
I125T |
probably damaging |
Het |
Cstf1 |
T |
C |
2: 172,219,816 (GRCm39) |
V309A |
probably damaging |
Het |
Cyp4a29 |
T |
G |
4: 115,104,272 (GRCm39) |
|
probably null |
Het |
F830045P16Rik |
G |
A |
2: 129,314,738 (GRCm39) |
H180Y |
probably damaging |
Het |
Foxp4 |
T |
C |
17: 48,189,387 (GRCm39) |
K237E |
unknown |
Het |
Fstl5 |
A |
T |
3: 76,229,373 (GRCm39) |
H58L |
probably benign |
Het |
Gje1 |
A |
G |
10: 14,592,365 (GRCm39) |
F139S |
probably damaging |
Het |
Gpatch1 |
T |
C |
7: 34,991,265 (GRCm39) |
D593G |
probably damaging |
Het |
Inpp5d |
T |
A |
1: 87,627,397 (GRCm39) |
L566Q |
probably damaging |
Het |
Mtch2 |
A |
G |
2: 90,679,739 (GRCm39) |
T38A |
probably benign |
Het |
Mvb12b |
A |
T |
2: 33,717,754 (GRCm39) |
I129N |
probably damaging |
Het |
Npffr2 |
T |
C |
5: 89,730,556 (GRCm39) |
V162A |
probably benign |
Het |
Or4d10b |
A |
T |
19: 12,036,920 (GRCm39) |
N65K |
probably damaging |
Het |
Or5p61 |
A |
T |
7: 107,758,409 (GRCm39) |
Y224N |
probably damaging |
Het |
Pkhd1 |
G |
A |
1: 20,621,244 (GRCm39) |
R805C |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,559,364 (GRCm39) |
L406P |
probably damaging |
Het |
Prl3d2 |
A |
G |
13: 27,311,286 (GRCm39) |
D186G |
probably damaging |
Het |
Rfc5 |
T |
C |
5: 117,523,463 (GRCm39) |
T112A |
probably benign |
Het |
Rnf148 |
A |
G |
6: 23,654,483 (GRCm39) |
L171P |
probably damaging |
Het |
Rps24 |
G |
A |
14: 24,542,116 (GRCm39) |
G71S |
possibly damaging |
Het |
Slco2a1 |
G |
A |
9: 102,954,187 (GRCm39) |
V453I |
probably benign |
Het |
Spidr |
T |
C |
16: 15,786,424 (GRCm39) |
K440E |
probably benign |
Het |
Syndig1 |
C |
A |
2: 149,741,496 (GRCm39) |
N27K |
probably damaging |
Het |
Tmem62 |
C |
T |
2: 120,829,595 (GRCm39) |
T316I |
probably benign |
Het |
Tpgs2 |
A |
T |
18: 25,272,081 (GRCm39) |
I258N |
possibly damaging |
Het |
Vmn2r78 |
A |
T |
7: 86,571,545 (GRCm39) |
R452* |
probably null |
Het |
Wasf3 |
A |
T |
5: 146,390,227 (GRCm39) |
I124F |
possibly damaging |
Het |
Wbp11 |
T |
C |
6: 136,797,523 (GRCm39) |
T299A |
probably benign |
Het |
Wdr25 |
T |
C |
12: 108,990,991 (GRCm39) |
S41P |
probably damaging |
Het |
Zfp874b |
T |
C |
13: 67,622,962 (GRCm39) |
D116G |
possibly damaging |
Het |
|
Other mutations in Cc2d1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01078:Cc2d1a
|
APN |
8 |
84,866,894 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01126:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01129:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01133:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01135:Cc2d1a
|
APN |
8 |
84,870,033 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01953:Cc2d1a
|
APN |
8 |
84,870,607 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02216:Cc2d1a
|
APN |
8 |
84,865,942 (GRCm39) |
nonsense |
probably null |
|
IGL03131:Cc2d1a
|
APN |
8 |
84,870,056 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03268:Cc2d1a
|
APN |
8 |
84,860,154 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03401:Cc2d1a
|
APN |
8 |
84,861,258 (GRCm39) |
missense |
probably benign |
0.00 |
Rye
|
UTSW |
8 |
84,861,599 (GRCm39) |
missense |
probably damaging |
1.00 |
Taragon
|
UTSW |
8 |
84,865,166 (GRCm39) |
missense |
probably damaging |
0.96 |
R0313:Cc2d1a
|
UTSW |
8 |
84,863,598 (GRCm39) |
missense |
probably benign |
0.38 |
R0811:Cc2d1a
|
UTSW |
8 |
84,860,465 (GRCm39) |
missense |
probably benign |
0.23 |
R0812:Cc2d1a
|
UTSW |
8 |
84,860,465 (GRCm39) |
missense |
probably benign |
0.23 |
R0893:Cc2d1a
|
UTSW |
8 |
84,867,468 (GRCm39) |
splice site |
probably benign |
|
R1440:Cc2d1a
|
UTSW |
8 |
84,860,604 (GRCm39) |
critical splice donor site |
probably null |
|
R1625:Cc2d1a
|
UTSW |
8 |
84,866,001 (GRCm39) |
missense |
probably damaging |
1.00 |
R2183:Cc2d1a
|
UTSW |
8 |
84,867,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R5155:Cc2d1a
|
UTSW |
8 |
84,867,755 (GRCm39) |
missense |
probably benign |
0.00 |
R5959:Cc2d1a
|
UTSW |
8 |
84,860,132 (GRCm39) |
nonsense |
probably null |
|
R6046:Cc2d1a
|
UTSW |
8 |
84,863,571 (GRCm39) |
missense |
possibly damaging |
0.81 |
R6956:Cc2d1a
|
UTSW |
8 |
84,862,528 (GRCm39) |
missense |
probably damaging |
1.00 |
R6992:Cc2d1a
|
UTSW |
8 |
84,861,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R7156:Cc2d1a
|
UTSW |
8 |
84,862,389 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7396:Cc2d1a
|
UTSW |
8 |
84,870,374 (GRCm39) |
splice site |
probably null |
|
R7456:Cc2d1a
|
UTSW |
8 |
84,866,868 (GRCm39) |
critical splice donor site |
probably null |
|
R7787:Cc2d1a
|
UTSW |
8 |
84,860,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8507:Cc2d1a
|
UTSW |
8 |
84,861,605 (GRCm39) |
missense |
probably benign |
0.37 |
R8808:Cc2d1a
|
UTSW |
8 |
84,861,599 (GRCm39) |
missense |
probably damaging |
1.00 |
R9524:Cc2d1a
|
UTSW |
8 |
84,870,744 (GRCm39) |
missense |
probably benign |
0.06 |
R9563:Cc2d1a
|
UTSW |
8 |
84,863,758 (GRCm39) |
missense |
probably benign |
0.14 |
RF007:Cc2d1a
|
UTSW |
8 |
84,861,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACGGCCTACTTGTCGAGAG -3'
(R):5'- TACGCAGCAGAATACCCCTG -3'
Sequencing Primer
(F):5'- GGGCAGCTTAGCTTAAATGATAC -3'
(R):5'- ACCCAGCTGAAGTCCTCG -3'
|
Posted On |
2018-05-04 |