Incidental Mutation 'R5732:Cdadc1'
| ID |
451509 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cdadc1
|
| Ensembl Gene |
ENSMUSG00000021982 |
| Gene Name |
cytidine and dCMP deaminase domain containing 1 |
| Synonyms |
2310010M10Rik, NYD-SP15 |
| MMRRC Submission |
043347-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R5732 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59796837-59835408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59834360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 44
(L44P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022555]
[ENSMUST00000056997]
[ENSMUST00000167100]
[ENSMUST00000171683]
[ENSMUST00000225839]
|
| AlphaFold |
Q8BMD5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022555
AA Change: L44P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: L44P
| 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 damaging
Transcript: ENSMUST00000056997
AA Change: L44P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: L44P
| 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 damaging
Transcript: ENSMUST00000167100
AA Change: L44P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: L44P
| 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 damaging
Transcript: ENSMUST00000171683
AA Change: L44P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: L44P
| 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 damaging
Transcript: ENSMUST00000225839
AA Change: L44P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
| Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
| Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
| Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
| Kat2a |
A |
G |
11: 100,599,066 (GRCm39) |
F571S |
probably damaging |
Het |
| Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
| Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
| Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
| Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
| Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
| Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
| Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
| Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
| Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
| Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
| Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly 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 |
|
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 |
|
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'- TGGAAATATGAGCTAGTTCGCTG -3'
(R):5'- GTTGTGGCCACTCTTGCTAAGG -3'
Sequencing Primer
(F):5'- TGTGGTTACAGGCACAGCATAC -3'
(R):5'- AAGGAAGCTTTTATTCTCCTGCCTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation