Incidental Mutation 'R9201:Dcbld1'
| ID |
698233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcbld1
|
| Ensembl Gene |
ENSMUSG00000019891 |
| Gene Name |
discoidin, CUB and LCCL domain containing 1 |
| Synonyms |
4631413K11Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9201 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
52109715-52197474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 52138000 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 88
(D88G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069004]
[ENSMUST00000218582]
|
| AlphaFold |
Q9D4J3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069004
AA Change: D88G
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: D88G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
|
CUB
|
32 |
141 |
6.42e-23 |
SMART |
|
Pfam:LCCL
|
147 |
239 |
4.5e-19 |
PFAM |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218582
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
A |
G |
7: 43,150,709 (GRCm39) |
V21A |
possibly damaging |
Het |
| Abcc2 |
T |
C |
19: 43,786,880 (GRCm39) |
F167S |
probably damaging |
Het |
| Afap1l2 |
C |
A |
19: 56,916,688 (GRCm39) |
W280L |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,378,798 (GRCm39) |
M2540K |
possibly damaging |
Het |
| Atxn10 |
T |
C |
15: 85,243,687 (GRCm39) |
V50A |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,733,903 (GRCm39) |
Q415L |
possibly damaging |
Het |
| Cat |
A |
T |
2: 103,304,754 (GRCm39) |
D90E |
possibly damaging |
Het |
| Cdh12 |
T |
C |
15: 21,237,825 (GRCm39) |
L20P |
possibly damaging |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cimap3 |
T |
A |
3: 105,906,921 (GRCm39) |
K159N |
probably damaging |
Het |
| Clca3a2 |
A |
G |
3: 144,519,684 (GRCm39) |
I230T |
probably benign |
Het |
| Clip4 |
G |
A |
17: 72,117,884 (GRCm39) |
G310R |
probably damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,828,699 (GRCm39) |
T159A |
possibly damaging |
Het |
| Edem3 |
G |
T |
1: 151,694,324 (GRCm39) |
V886F |
probably benign |
Het |
| Ero1a |
A |
G |
14: 45,525,214 (GRCm39) |
V437A |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 38,945,079 (GRCm39) |
V1324A |
probably damaging |
Het |
| Fgfr1op2 |
A |
G |
6: 146,494,217 (GRCm39) |
E161G |
probably benign |
Het |
| Fhod3 |
T |
A |
18: 25,127,613 (GRCm39) |
Y318* |
probably null |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Kmt5a |
A |
T |
5: 124,597,912 (GRCm39) |
E256D |
probably damaging |
Het |
| Lax1 |
A |
T |
1: 133,608,205 (GRCm39) |
S179T |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nrap |
T |
A |
19: 56,340,093 (GRCm39) |
H844L |
probably damaging |
Het |
| Nrip3 |
T |
C |
7: 109,360,906 (GRCm39) |
T230A |
probably benign |
Het |
| Nudcd1 |
T |
C |
15: 44,263,473 (GRCm39) |
K322R |
probably benign |
Het |
| Or14c40 |
T |
C |
7: 86,313,749 (GRCm39) |
I293T |
probably damaging |
Het |
| Or9a7 |
C |
T |
6: 40,521,293 (GRCm39) |
V207I |
probably benign |
Het |
| Paqr3 |
A |
G |
5: 97,245,365 (GRCm39) |
S256P |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,678,640 (GRCm39) |
|
probably null |
Het |
| Ppp2r1b |
T |
A |
9: 50,789,447 (GRCm39) |
N503K |
probably benign |
Het |
| Ppp2r2b |
A |
G |
18: 42,871,101 (GRCm39) |
Y70H |
possibly damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,937 (GRCm39) |
N114K |
probably benign |
Het |
| Ptprz1 |
G |
T |
6: 22,972,869 (GRCm39) |
|
probably null |
Het |
| Rbm15b |
A |
G |
9: 106,762,218 (GRCm39) |
S138P |
unknown |
Het |
| Slc4a5 |
C |
T |
6: 83,262,812 (GRCm39) |
T768I |
probably benign |
Het |
| Smc2 |
T |
A |
4: 52,446,044 (GRCm39) |
N137K |
probably damaging |
Het |
| Snai2 |
A |
T |
16: 14,524,632 (GRCm39) |
E46V |
probably benign |
Het |
| Spata31d1c |
A |
G |
13: 65,184,773 (GRCm39) |
S772G |
possibly damaging |
Het |
| Spidr |
G |
T |
16: 15,730,556 (GRCm39) |
R650S |
possibly damaging |
Het |
| Stox1 |
A |
G |
10: 62,501,352 (GRCm39) |
S403P |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,936,561 (GRCm39) |
K1496E |
probably benign |
Het |
| Tsc1 |
T |
C |
2: 28,576,791 (GRCm39) |
V1031A |
probably benign |
Het |
| Txnrd1 |
T |
C |
10: 82,719,821 (GRCm39) |
I394T |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,277,727 (GRCm39) |
F2286I |
probably benign |
Het |
| Zfp369 |
T |
C |
13: 65,444,396 (GRCm39) |
V513A |
probably benign |
Het |
|
| Other mutations in Dcbld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00654:Dcbld1
|
APN |
10 |
52,188,945 (GRCm39) |
missense |
probably benign |
|
|
IGL01974:Dcbld1
|
APN |
10 |
52,180,777 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01997:Dcbld1
|
APN |
10 |
52,193,206 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02811:Dcbld1
|
APN |
10 |
52,196,069 (GRCm39) |
missense |
probably benign |
|
|
IGL03011:Dcbld1
|
APN |
10 |
52,160,244 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03329:Dcbld1
|
APN |
10 |
52,195,721 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03048:Dcbld1
|
UTSW |
10 |
52,180,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0392:Dcbld1
|
UTSW |
10 |
52,193,230 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0532:Dcbld1
|
UTSW |
10 |
52,193,173 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0561:Dcbld1
|
UTSW |
10 |
52,138,032 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0625:Dcbld1
|
UTSW |
10 |
52,188,946 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0907:Dcbld1
|
UTSW |
10 |
52,137,910 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1567:Dcbld1
|
UTSW |
10 |
52,195,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:Dcbld1
|
UTSW |
10 |
52,195,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1915:Dcbld1
|
UTSW |
10 |
52,193,131 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1921:Dcbld1
|
UTSW |
10 |
52,195,747 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2119:Dcbld1
|
UTSW |
10 |
52,196,075 (GRCm39) |
missense |
probably benign |
|
|
R2163:Dcbld1
|
UTSW |
10 |
52,162,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2520:Dcbld1
|
UTSW |
10 |
52,195,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3196:Dcbld1
|
UTSW |
10 |
52,195,587 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3788:Dcbld1
|
UTSW |
10 |
52,195,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4797:Dcbld1
|
UTSW |
10 |
52,160,223 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4904:Dcbld1
|
UTSW |
10 |
52,196,066 (GRCm39) |
nonsense |
probably null |
|
|
R5177:Dcbld1
|
UTSW |
10 |
52,180,730 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5329:Dcbld1
|
UTSW |
10 |
52,160,353 (GRCm39) |
intron |
probably benign |
|
|
R5456:Dcbld1
|
UTSW |
10 |
52,190,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Dcbld1
|
UTSW |
10 |
52,180,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6267:Dcbld1
|
UTSW |
10 |
52,195,576 (GRCm39) |
nonsense |
probably null |
|
|
R6421:Dcbld1
|
UTSW |
10 |
52,162,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7031:Dcbld1
|
UTSW |
10 |
52,166,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7738:Dcbld1
|
UTSW |
10 |
52,188,922 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R7993:Dcbld1
|
UTSW |
10 |
52,137,884 (GRCm39) |
nonsense |
probably null |
|
|
R8728:Dcbld1
|
UTSW |
10 |
52,109,929 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8971:Dcbld1
|
UTSW |
10 |
52,195,958 (GRCm39) |
missense |
probably benign |
0.12 |
|
R9217:Dcbld1
|
UTSW |
10 |
52,138,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCTCTTGTAGGAGACAGTTAC -3'
(R):5'- AGCCTGCATGCAAGTTACC -3'
Sequencing Primer
(F):5'- CTCTTGTAGGAGACAGTTACATCTTG -3'
(R):5'- TGCATGCAAGTTACCCTGAG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation