Incidental Mutation 'R7738:Dcbld1'
| ID |
596379 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dcbld1
|
| Ensembl Gene |
ENSMUSG00000019891 |
| Gene Name |
discoidin, CUB and LCCL domain containing 1 |
| Synonyms |
4631413K11Rik |
| MMRRC Submission |
045794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7738 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
52109715-52197474 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 52188922 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 249
(T249I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068203
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069004]
[ENSMUST00000218582]
|
| AlphaFold |
Q9D4J3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069004
AA Change: T249I
PolyPhen 2
Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068203
Gene: ENSMUSG00000019891
AA Change: T249I
| 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 |
possibly damaging
Transcript: ENSMUST00000218582
AA Change: T178I
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkal1 |
T |
A |
1: 6,459,728 (GRCm39) |
D101E |
probably benign |
Het |
| Ank2 |
C |
T |
3: 126,741,271 (GRCm39) |
A1538T |
|
Het |
| Arhgap21 |
A |
G |
2: 20,854,290 (GRCm39) |
S1701P |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,855,169 (GRCm39) |
Y1408H |
probably damaging |
Het |
| Armc3 |
A |
T |
2: 19,293,761 (GRCm39) |
L517F |
probably damaging |
Het |
| Cep57l1 |
T |
A |
10: 41,616,842 (GRCm39) |
E148D |
probably damaging |
Het |
| Clstn1 |
A |
C |
4: 149,719,811 (GRCm39) |
Q452P |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,004 (GRCm39) |
R1437L |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,369,151 (GRCm39) |
E749G |
probably damaging |
Het |
| Enox1 |
A |
C |
14: 77,815,220 (GRCm39) |
N126T |
probably damaging |
Het |
| Fgfr1 |
T |
A |
8: 26,048,201 (GRCm39) |
L99Q |
probably damaging |
Het |
| Fscn3 |
G |
A |
6: 28,434,445 (GRCm39) |
R340Q |
probably benign |
Het |
| Glrb |
C |
T |
3: 80,767,491 (GRCm39) |
C243Y |
probably damaging |
Het |
| Gpld1 |
A |
T |
13: 25,146,305 (GRCm39) |
Y183F |
probably damaging |
Het |
| Has2 |
T |
C |
15: 56,531,108 (GRCm39) |
K536E |
possibly damaging |
Het |
| Igtp |
A |
G |
11: 58,097,906 (GRCm39) |
E359G |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,236,162 (GRCm39) |
D509G |
probably damaging |
Het |
| Kbtbd2 |
C |
A |
6: 56,756,722 (GRCm39) |
S338I |
possibly damaging |
Het |
| Mpdz |
A |
G |
4: 81,253,986 (GRCm39) |
S1049P |
probably benign |
Het |
| Ncoa3 |
C |
T |
2: 165,891,987 (GRCm39) |
A121V |
probably damaging |
Het |
| Nfatc4 |
A |
G |
14: 56,069,414 (GRCm39) |
T647A |
possibly damaging |
Het |
| Nip7 |
T |
C |
8: 107,783,997 (GRCm39) |
F79S |
probably damaging |
Het |
| Nrxn3 |
A |
C |
12: 88,817,074 (GRCm39) |
E251D |
possibly damaging |
Het |
| Olig2 |
T |
C |
16: 91,024,048 (GRCm39) |
I254T |
unknown |
Het |
| Or55b4 |
C |
A |
7: 102,133,818 (GRCm39) |
V170F |
probably damaging |
Het |
| Or5ac16 |
G |
A |
16: 59,022,318 (GRCm39) |
A157V |
probably benign |
Het |
| Ostf1 |
A |
T |
19: 18,562,065 (GRCm39) |
L177* |
probably null |
Het |
| Pabpc2 |
A |
T |
18: 39,907,319 (GRCm39) |
I195F |
possibly damaging |
Het |
| Pacs1 |
A |
T |
19: 5,202,378 (GRCm39) |
M404K |
probably benign |
Het |
| Pcdh1 |
A |
G |
18: 38,330,529 (GRCm39) |
S964P |
probably benign |
Het |
| Pcdhb3 |
T |
A |
18: 37,436,012 (GRCm39) |
N659K |
probably benign |
Het |
| Pla2g6 |
A |
T |
15: 79,181,633 (GRCm39) |
Y537* |
probably null |
Het |
| Plekhn1 |
G |
A |
4: 156,316,691 (GRCm39) |
T330M |
probably damaging |
Het |
| Proc |
G |
A |
18: 32,260,532 (GRCm39) |
R198* |
probably null |
Het |
| Rfx8 |
G |
T |
1: 39,722,091 (GRCm39) |
T298K |
probably damaging |
Het |
| S1pr4 |
A |
C |
10: 81,334,341 (GRCm39) |
S378A |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,533,525 (GRCm39) |
F277S |
probably damaging |
Het |
| Slfn2 |
T |
A |
11: 82,960,799 (GRCm39) |
F259L |
probably damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,527 (GRCm39) |
T242A |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,774,153 (GRCm39) |
N68S |
probably damaging |
Het |
| Tmem44 |
A |
T |
16: 30,362,228 (GRCm39) |
S201T |
probably benign |
Het |
| Ttc3 |
A |
T |
16: 94,188,241 (GRCm39) |
I177L |
probably benign |
Het |
| Vmn1r177 |
T |
C |
7: 23,565,559 (GRCm39) |
T106A |
probably damaging |
Het |
| Vmn1r28 |
T |
C |
6: 58,243,039 (GRCm39) |
M294T |
probably benign |
Het |
| Zfp518b |
G |
A |
5: 38,829,530 (GRCm39) |
T825I |
probably benign |
Het |
| Zfp729b |
A |
T |
13: 67,740,194 (GRCm39) |
N690K |
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 |
|
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 |
|
R9201:Dcbld1
|
UTSW |
10 |
52,138,000 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9217:Dcbld1
|
UTSW |
10 |
52,138,028 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGCTCAGAAATCCGCC -3'
(R):5'- ATCCATCCAAGTCGAGAATGG -3'
Sequencing Primer
(F):5'- AGAAATCCGCCTGCCTCTG -3'
(R):5'- TGTGATGTGAGCAGCTACATCAC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation