Incidental Mutation 'R4179:Cdadc1'
| ID |
319653 |
| 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 |
041015-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R4179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
59796837-59835408 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 59829935 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 77
(T77N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153357
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022555]
[ENSMUST00000056997]
[ENSMUST00000167100]
[ENSMUST00000171683]
[ENSMUST00000225839]
|
| AlphaFold |
Q8BMD5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022555
AA Change: T77N
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022555
Gene: ENSMUSG00000021982
AA Change: T77N
| 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: T77N
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000052233
Gene: ENSMUSG00000021982
AA Change: T77N
| 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: T77N
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128022
Gene: ENSMUSG00000021982
AA Change: T77N
| 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: T77N
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128064
Gene: ENSMUSG00000021982
AA Change: T77N
| 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 benign
Transcript: ENSMUST00000225839
AA Change: T77N
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
T |
C |
8: 44,104,128 (GRCm39) |
M506V |
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,204,242 (GRCm39) |
M290K |
probably damaging |
Het |
| Arrdc2 |
A |
T |
8: 71,289,821 (GRCm39) |
L34Q |
probably damaging |
Het |
| Cmtr2 |
C |
G |
8: 110,947,669 (GRCm39) |
|
probably null |
Het |
| Cnot2 |
A |
T |
10: 116,334,048 (GRCm39) |
V374E |
possibly damaging |
Het |
| Crnn |
T |
C |
3: 93,054,120 (GRCm39) |
M1T |
probably null |
Het |
| Ctsb |
A |
G |
14: 63,370,901 (GRCm39) |
N38D |
probably benign |
Het |
| Dock10 |
A |
C |
1: 80,488,134 (GRCm39) |
S2010A |
probably benign |
Het |
| Dqx1 |
A |
G |
6: 83,036,460 (GRCm39) |
T155A |
probably benign |
Het |
| Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
| Eci1 |
T |
C |
17: 24,655,251 (GRCm39) |
W119R |
probably damaging |
Het |
| Foxo1 |
C |
A |
3: 52,252,840 (GRCm39) |
D334E |
probably benign |
Het |
| Gck |
T |
C |
11: 5,860,295 (GRCm39) |
T116A |
probably benign |
Het |
| Gcn1 |
T |
C |
5: 115,726,109 (GRCm39) |
V588A |
probably benign |
Het |
| Gm7168 |
A |
G |
17: 14,169,265 (GRCm39) |
I211V |
probably benign |
Het |
| Idh3g |
A |
T |
X: 72,825,610 (GRCm39) |
|
probably null |
Het |
| Jag1 |
A |
G |
2: 136,943,578 (GRCm39) |
F206S |
probably damaging |
Het |
| Loxl3 |
G |
A |
6: 83,014,565 (GRCm39) |
V158I |
probably benign |
Het |
| Ly6g |
A |
G |
15: 75,027,567 (GRCm39) |
|
probably null |
Het |
| Myo1b |
A |
G |
1: 51,817,685 (GRCm39) |
F532L |
probably damaging |
Het |
| Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
| Nlrp9c |
G |
A |
7: 26,084,086 (GRCm39) |
H498Y |
possibly damaging |
Het |
| Or10d1b |
A |
G |
9: 39,613,387 (GRCm39) |
I226T |
probably benign |
Het |
| Pak2 |
C |
G |
16: 31,871,005 (GRCm39) |
G59A |
probably benign |
Het |
| Pcdha2 |
T |
A |
18: 37,074,529 (GRCm39) |
L720Q |
probably damaging |
Het |
| Pcdhb9 |
T |
A |
18: 37,534,168 (GRCm39) |
M54K |
probably benign |
Het |
| Pde2a |
A |
G |
7: 101,130,590 (GRCm39) |
*71W |
probably null |
Het |
| Pkd2l1 |
T |
C |
19: 44,180,620 (GRCm39) |
N32D |
probably benign |
Het |
| Pkhd1l1 |
A |
C |
15: 44,387,045 (GRCm39) |
Y1306S |
probably benign |
Het |
| Plec |
T |
C |
15: 76,064,415 (GRCm39) |
K1953R |
possibly damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,108,030 (GRCm39) |
V1029E |
possibly damaging |
Het |
| Prkd1 |
C |
A |
12: 50,413,231 (GRCm39) |
G647C |
probably damaging |
Het |
| Ptch1 |
C |
T |
13: 63,682,143 (GRCm39) |
R537H |
probably damaging |
Het |
| Qser1 |
A |
G |
2: 104,606,729 (GRCm39) |
I1510T |
probably benign |
Het |
| Ranbp3l |
T |
C |
15: 9,057,279 (GRCm39) |
I314T |
possibly damaging |
Het |
| Rgs9 |
C |
A |
11: 109,172,274 (GRCm39) |
|
probably null |
Het |
| Riok1 |
T |
C |
13: 38,232,931 (GRCm39) |
F216L |
probably damaging |
Het |
| Rrm1 |
T |
A |
7: 102,106,405 (GRCm39) |
I308N |
probably damaging |
Het |
| Serpina1f |
A |
T |
12: 103,658,179 (GRCm39) |
M242K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,366,770 (GRCm39) |
M576I |
possibly damaging |
Het |
| Spaca7 |
A |
T |
8: 12,636,435 (GRCm39) |
N87I |
probably damaging |
Het |
| Spink5 |
A |
T |
18: 44,120,934 (GRCm39) |
Q296L |
probably benign |
Het |
| Sspo |
T |
C |
6: 48,475,329 (GRCm39) |
|
probably null |
Het |
| Sult2b1 |
T |
A |
7: 45,384,735 (GRCm39) |
I114F |
probably damaging |
Het |
| Tex12 |
T |
C |
9: 50,470,587 (GRCm39) |
|
probably null |
Het |
| Tonsl |
A |
G |
15: 76,508,675 (GRCm39) |
L26P |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Tsen54 |
T |
C |
11: 115,711,678 (GRCm39) |
V365A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,687,091 (GRCm39) |
L683P |
probably damaging |
Het |
| Wdr18 |
T |
C |
10: 79,800,875 (GRCm39) |
L146P |
probably damaging |
Het |
| Zfp709 |
A |
G |
8: 72,643,750 (GRCm39) |
Y392C |
probably damaging |
Het |
| Zranb3 |
A |
T |
1: 127,888,601 (GRCm39) |
I828N |
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 |
|
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'- CAGGGCATTGCTTAACACATCTG -3'
(R):5'- TAGTACCCAAGCAAAGTGAGAC -3'
Sequencing Primer
(F):5'- CATCTGTGTGAAATCAGGATTAGACG -3'
(R):5'- GACATCACTGCAGAGCTTTG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation