Incidental Mutation 'R2929:Cdadc1'
| ID |
254959 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdadc1
|
| Ensembl Gene |
ENSMUSG00000021982 |
| Gene Name |
cytidine and dCMP deaminase domain containing 1 |
| Synonyms |
2310010M10Rik, NYD-SP15 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R2929 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59796837-59835408 bp(-) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
A to T
at 59835284 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1
(M1K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022555]
[ENSMUST00000056997]
[ENSMUST00000167100]
[ENSMUST00000171683]
[ENSMUST00000225839]
|
| AlphaFold |
Q8BMD5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022555
AA Change: M1K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:dCMP_cyt_deam_1
|
73 |
153 |
9.2e-8 |
PFAM |
|
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
4.2e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056997
AA Change: M1K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:dCMP_cyt_deam_1
|
73 |
153 |
9.8e-8 |
PFAM |
|
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
4.6e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000167100
AA Change: M1K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:dCMP_cyt_deam_1
|
74 |
153 |
4.9e-9 |
PFAM |
|
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
1.1e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171683
AA Change: M1K
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: M1K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:dCMP_cyt_deam_1
|
74 |
153 |
1.4e-8 |
PFAM |
|
Pfam:dCMP_cyt_deam_1
|
317 |
446 |
3e-11 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223842
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225103
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000225839
AA Change: M1K
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 19 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cd177 |
G |
A |
7: 24,453,704 (GRCm39) |
Q396* |
probably null |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Cnnm3 |
T |
A |
1: 36,563,140 (GRCm39) |
F701L |
possibly damaging |
Het |
| Cul7 |
C |
G |
17: 46,962,526 (GRCm39) |
D52E |
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,759,699 (GRCm39) |
V268A |
possibly damaging |
Het |
| Deup1 |
C |
T |
9: 15,486,484 (GRCm39) |
V399I |
probably benign |
Het |
| Dscam |
T |
A |
16: 96,486,612 (GRCm39) |
Q1021L |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,206,143 (GRCm39) |
K932* |
probably null |
Het |
| Neurl2 |
T |
C |
2: 164,675,264 (GRCm39) |
N33D |
possibly damaging |
Het |
| Pnma8b |
T |
C |
7: 16,680,617 (GRCm39) |
S534P |
possibly damaging |
Het |
| Pole2 |
G |
A |
12: 69,256,712 (GRCm39) |
T271M |
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,296,858 (GRCm39) |
M191V |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,507,185 (GRCm39) |
Q369R |
probably benign |
Het |
| Rbm45 |
A |
G |
2: 76,208,763 (GRCm39) |
I300V |
probably benign |
Het |
| Ro60 |
G |
A |
1: 143,633,616 (GRCm39) |
A494V |
possibly damaging |
Het |
| Sco1 |
T |
A |
11: 66,954,748 (GRCm39) |
I251K |
probably damaging |
Het |
| Spmip4 |
G |
A |
6: 50,551,285 (GRCm39) |
T388I |
probably benign |
Het |
| Zfp202 |
T |
C |
9: 40,122,984 (GRCm39) |
V582A |
possibly damaging |
Het |
| Zfp219 |
T |
A |
14: 52,246,436 (GRCm39) |
E230D |
probably benign |
Het |
|
| Other mutations in Cdadc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00163:Cdadc1
|
APN |
14 |
59,818,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01897:Cdadc1
|
APN |
14 |
59,829,986 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL02648:Cdadc1
|
APN |
14 |
59,823,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02720:Cdadc1
|
APN |
14 |
59,823,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0254:Cdadc1
|
UTSW |
14 |
59,813,356 (GRCm39) |
splice site |
probably benign |
|
|
R0470:Cdadc1
|
UTSW |
14 |
59,811,290 (GRCm39) |
splice site |
probably benign |
|
|
R0554:Cdadc1
|
UTSW |
14 |
59,823,901 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Cdadc1
|
UTSW |
14 |
59,813,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1462:Cdadc1
|
UTSW |
14 |
59,813,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Cdadc1
|
UTSW |
14 |
59,823,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Cdadc1
|
UTSW |
14 |
59,823,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1649:Cdadc1
|
UTSW |
14 |
59,811,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1900:Cdadc1
|
UTSW |
14 |
59,823,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1934:Cdadc1
|
UTSW |
14 |
59,827,309 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1976:Cdadc1
|
UTSW |
14 |
59,811,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2061:Cdadc1
|
UTSW |
14 |
59,818,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Cdadc1
|
UTSW |
14 |
59,805,493 (GRCm39) |
splice site |
probably null |
|
|
R2147:Cdadc1
|
UTSW |
14 |
59,835,202 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2991:Cdadc1
|
UTSW |
14 |
59,823,521 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4179:Cdadc1
|
UTSW |
14 |
59,829,935 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4621:Cdadc1
|
UTSW |
14 |
59,824,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4814:Cdadc1
|
UTSW |
14 |
59,806,440 (GRCm39) |
frame shift |
probably null |
|
|
R4816:Cdadc1
|
UTSW |
14 |
59,806,440 (GRCm39) |
frame shift |
probably null |
|
|
R4817:Cdadc1
|
UTSW |
14 |
59,806,440 (GRCm39) |
frame shift |
probably null |
|
|
R4872:Cdadc1
|
UTSW |
14 |
59,801,973 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5448:Cdadc1
|
UTSW |
14 |
59,811,275 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5642:Cdadc1
|
UTSW |
14 |
59,827,372 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5732:Cdadc1
|
UTSW |
14 |
59,834,360 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6472:Cdadc1
|
UTSW |
14 |
59,823,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6501:Cdadc1
|
UTSW |
14 |
59,823,898 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7332:Cdadc1
|
UTSW |
14 |
59,813,213 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7763:Cdadc1
|
UTSW |
14 |
59,811,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8978:Cdadc1
|
UTSW |
14 |
59,813,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Cdadc1
|
UTSW |
14 |
59,813,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGAAGCCTGGACAGCACAG -3'
(R):5'- CTGACGTCACATTAAGCGCC -3'
Sequencing Primer
(F):5'- ACAGGAGTCGCTGTGAGTC -3'
(R):5'- CGTCACATTAAGCGCCGGAAG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation