Incidental Mutation 'R2991:Cdadc1'
| ID |
257917 |
| 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: 0.158)
|
| Stock # |
R2991 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59796837-59835408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59823521 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 324
(M324V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022555]
[ENSMUST00000056997]
[ENSMUST00000167100]
[ENSMUST00000171683]
[ENSMUST00000225595]
[ENSMUST00000225839]
|
| AlphaFold |
Q8BMD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022555
AA Change: M324V
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: M324V
| 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 benign
Transcript: ENSMUST00000056997
AA Change: M324V
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: M324V
| 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 benign
Transcript: ENSMUST00000167100
AA Change: M324V
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: M324V
| 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 benign
Transcript: ENSMUST00000171683
AA Change: M324V
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: M324V
| 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: ENSMUST00000225103
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225595
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000225839
AA Change: M324V
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
T |
A |
9: 30,832,690 (GRCm39) |
T282S |
probably benign |
Het |
| Asic2 |
C |
A |
11: 81,858,863 (GRCm39) |
V50L |
probably benign |
Het |
| Cdcp3 |
A |
T |
7: 130,848,429 (GRCm39) |
D861V |
probably damaging |
Het |
| Col12a1 |
A |
T |
9: 79,607,547 (GRCm39) |
V427D |
probably damaging |
Het |
| Col3a1 |
C |
A |
1: 45,374,939 (GRCm39) |
|
probably benign |
Het |
| Esp24 |
A |
T |
17: 39,350,894 (GRCm39) |
E31D |
possibly damaging |
Het |
| Igkv14-100 |
T |
A |
6: 68,496,335 (GRCm39) |
L76* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,708,474 (GRCm39) |
V843A |
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,741,946 (GRCm39) |
S663P |
probably benign |
Het |
| Lsg1 |
T |
C |
16: 30,380,547 (GRCm39) |
N630S |
probably damaging |
Het |
| Lypd8l |
C |
T |
11: 58,501,516 (GRCm39) |
V156I |
possibly damaging |
Het |
| Msh4 |
A |
G |
3: 153,611,497 (GRCm39) |
V42A |
probably benign |
Het |
| Nkx6-1 |
T |
C |
5: 101,807,401 (GRCm39) |
Y327C |
probably damaging |
Het |
| Or9i1b |
G |
A |
19: 13,896,675 (GRCm39) |
C97Y |
probably damaging |
Het |
| Pde4a |
T |
C |
9: 21,114,539 (GRCm39) |
S369P |
probably damaging |
Het |
| Pkdrej |
T |
C |
15: 85,704,137 (GRCm39) |
I600V |
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,347,432 (GRCm39) |
E479G |
probably damaging |
Het |
| Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
| Rap1gap2 |
C |
A |
11: 74,298,148 (GRCm39) |
A491S |
possibly damaging |
Het |
| Rgmb |
A |
T |
17: 16,041,352 (GRCm39) |
D78E |
probably damaging |
Het |
| Samd12 |
C |
T |
15: 53,723,592 (GRCm39) |
E34K |
probably damaging |
Het |
| Slc22a21 |
T |
G |
11: 53,850,195 (GRCm39) |
E220A |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,339,982 (GRCm39) |
E430G |
probably damaging |
Het |
| Snx15 |
C |
A |
19: 6,171,515 (GRCm39) |
L186F |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,525 (GRCm39) |
E1557G |
probably benign |
Het |
| Vwa8 |
A |
T |
14: 79,232,589 (GRCm39) |
T644S |
probably benign |
Het |
| Zcchc4 |
T |
A |
5: 52,961,780 (GRCm39) |
F247Y |
probably damaging |
Het |
| Zmynd11 |
A |
G |
13: 9,745,858 (GRCm39) |
V165A |
probably damaging |
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 |
|
|
R2929:Cdadc1
|
UTSW |
14 |
59,835,284 (GRCm39) |
start codon destroyed |
probably null |
0.70 |
|
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'- CAGAAAACACAGGGTCTGGC -3'
(R):5'- ACTGATGACTATAGGTCTGGAGAGC -3'
Sequencing Primer
(F):5'- AACACAGGGTCTGGCTCACTTC -3'
(R):5'- AGCCTGTGTGAAGACCCCTATTTTAG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation