Incidental Mutation 'R6828:Dennd5b'
| ID |
534248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN domain containing 5B |
| Synonyms |
D030011O10Rik, 9330160C06Rik |
| MMRRC Submission |
045020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R6828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148895244 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 1262
(I1262T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111557
AA Change: I1262T
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: I1262T
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
18 |
120 |
9.96e-39 |
SMART |
|
low complexity region
|
145 |
161 |
N/A |
INTRINSIC |
|
DENN
|
187 |
375 |
2.97e-78 |
SMART |
|
dDENN
|
498 |
574 |
5.92e-23 |
SMART |
|
RUN
|
866 |
929 |
2.13e-22 |
SMART |
|
Pfam:PLAT
|
938 |
1043 |
1.7e-12 |
PFAM |
|
low complexity region
|
1070 |
1081 |
N/A |
INTRINSIC |
|
RUN
|
1205 |
1265 |
8.42e-12 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,545,389 (GRCm39) |
M349K |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,304,606 (GRCm39) |
E472G |
probably damaging |
Het |
| Ap2s1 |
T |
C |
7: 16,482,626 (GRCm39) |
Y94H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 107,964,237 (GRCm39) |
F530L |
probably damaging |
Het |
| Aplnr |
G |
A |
2: 84,970,103 (GRCm39) |
|
probably benign |
Het |
| Arid3b |
A |
G |
9: 57,717,446 (GRCm39) |
|
probably null |
Het |
| Ash1l |
A |
C |
3: 88,983,420 (GRCm39) |
D2874A |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,199,172 (GRCm39) |
R277S |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 33,919,953 (GRCm39) |
F105L |
possibly damaging |
Het |
| Ccar1 |
C |
A |
10: 62,600,209 (GRCm39) |
W574L |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,311,100 (GRCm39) |
F207L |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,315,290 (GRCm39) |
R111G |
probably damaging |
Het |
| Clk3 |
G |
A |
9: 57,668,132 (GRCm39) |
T263I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,272,607 (GRCm39) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,709,748 (GRCm39) |
G604D |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,663,898 (GRCm39) |
T667A |
possibly damaging |
Het |
| Crb2 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
2: 37,666,421 (GRCm39) |
|
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,405,335 (GRCm39) |
V369D |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 50,054,091 (GRCm39) |
P2566S |
probably damaging |
Het |
| Fam170b |
A |
G |
14: 32,557,915 (GRCm39) |
D250G |
probably damaging |
Het |
| Foxs1 |
G |
A |
2: 152,775,048 (GRCm39) |
Q2* |
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,275,383 (GRCm39) |
V512A |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,389,911 (GRCm39) |
|
probably null |
Het |
| Gria1 |
A |
G |
11: 57,180,288 (GRCm39) |
Y677C |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,029,979 (GRCm39) |
I343T |
probably benign |
Het |
| Igkv1-132 |
T |
C |
6: 67,736,697 (GRCm39) |
V5A |
probably benign |
Het |
| Ikzf5 |
A |
T |
7: 130,993,401 (GRCm39) |
C256S |
probably damaging |
Het |
| Itk |
G |
A |
11: 46,232,045 (GRCm39) |
H297Y |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,017,756 (GRCm39) |
E879G |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,529,123 (GRCm39) |
V127A |
probably damaging |
Het |
| Man2b1 |
C |
A |
8: 85,813,548 (GRCm39) |
P247T |
possibly damaging |
Het |
| Meak7 |
G |
A |
8: 120,499,306 (GRCm39) |
T62I |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,473,967 (GRCm39) |
K122E |
probably benign |
Het |
| Npr1 |
C |
A |
3: 90,372,120 (GRCm39) |
V231L |
probably benign |
Het |
| Nsd2 |
C |
T |
5: 34,050,912 (GRCm39) |
A1263V |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,258,973 (GRCm39) |
D374G |
probably damaging |
Het |
| Optc |
A |
T |
1: 133,825,605 (GRCm39) |
I307N |
probably damaging |
Het |
| Or5p80 |
A |
C |
7: 108,229,500 (GRCm39) |
Q100H |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,527,863 (GRCm39) |
S16T |
probably damaging |
Het |
| Pecr |
C |
A |
1: 72,306,616 (GRCm39) |
E222* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,423,987 (GRCm39) |
N520S |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,355,653 (GRCm39) |
N19S |
probably benign |
Het |
| Rock2 |
G |
A |
12: 16,992,960 (GRCm39) |
|
probably null |
Het |
| Rpa1 |
G |
A |
11: 75,205,697 (GRCm39) |
T220I |
probably damaging |
Het |
| Sdf2l1 |
C |
G |
16: 16,950,158 (GRCm39) |
R6P |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,038,457 (GRCm39) |
H397Y |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,966,632 (GRCm39) |
I185T |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,295,230 (GRCm39) |
V300E |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,471,047 (GRCm39) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,843,724 (GRCm39) |
K1379R |
possibly damaging |
Het |
| Usp15 |
T |
C |
10: 122,963,894 (GRCm39) |
I543V |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 126,835,447 (GRCm39) |
E334G |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,680,688 (GRCm39) |
Y325C |
probably damaging |
Het |
|
| Other mutations in Dennd5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Dennd5b
|
APN |
6 |
148,928,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00590:Dennd5b
|
APN |
6 |
148,969,806 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL00727:Dennd5b
|
APN |
6 |
148,908,214 (GRCm39) |
splice site |
probably benign |
|
|
IGL00838:Dennd5b
|
APN |
6 |
148,906,861 (GRCm39) |
splice site |
probably benign |
|
|
IGL01115:Dennd5b
|
APN |
6 |
148,911,246 (GRCm39) |
splice site |
probably benign |
|
|
IGL01150:Dennd5b
|
APN |
6 |
148,969,583 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01873:Dennd5b
|
APN |
6 |
148,946,027 (GRCm39) |
missense |
probably benign |
|
|
IGL01991:Dennd5b
|
APN |
6 |
148,982,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02226:Dennd5b
|
APN |
6 |
148,934,799 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02820:Dennd5b
|
APN |
6 |
148,920,840 (GRCm39) |
missense |
probably null |
0.51 |
|
IGL03056:Dennd5b
|
APN |
6 |
148,956,570 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03085:Dennd5b
|
APN |
6 |
148,928,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03329:Dennd5b
|
APN |
6 |
148,899,758 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0081:Dennd5b
|
UTSW |
6 |
148,895,257 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0617:Dennd5b
|
UTSW |
6 |
148,934,760 (GRCm39) |
splice site |
probably benign |
|
|
R1241:Dennd5b
|
UTSW |
6 |
148,969,988 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1252:Dennd5b
|
UTSW |
6 |
148,945,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1255:Dennd5b
|
UTSW |
6 |
148,943,148 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1641:Dennd5b
|
UTSW |
6 |
148,969,703 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1674:Dennd5b
|
UTSW |
6 |
148,899,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1781:Dennd5b
|
UTSW |
6 |
148,928,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1861:Dennd5b
|
UTSW |
6 |
148,969,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1907:Dennd5b
|
UTSW |
6 |
148,943,074 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2412:Dennd5b
|
UTSW |
6 |
148,906,736 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R3794:Dennd5b
|
UTSW |
6 |
149,002,715 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R3825:Dennd5b
|
UTSW |
6 |
148,946,334 (GRCm39) |
missense |
probably benign |
|
|
R4581:Dennd5b
|
UTSW |
6 |
148,918,482 (GRCm39) |
splice site |
silent |
|
|
R4654:Dennd5b
|
UTSW |
6 |
148,908,335 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Dennd5b
|
UTSW |
6 |
148,946,277 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4981:Dennd5b
|
UTSW |
6 |
148,911,270 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4994:Dennd5b
|
UTSW |
6 |
148,942,998 (GRCm39) |
splice site |
probably null |
|
|
R5400:Dennd5b
|
UTSW |
6 |
148,901,514 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5452:Dennd5b
|
UTSW |
6 |
148,943,011 (GRCm39) |
splice site |
probably null |
|
|
R5548:Dennd5b
|
UTSW |
6 |
148,920,847 (GRCm39) |
splice site |
probably null |
|
|
R5841:Dennd5b
|
UTSW |
6 |
148,946,253 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5996:Dennd5b
|
UTSW |
6 |
148,969,593 (GRCm39) |
missense |
probably benign |
0.22 |
|
R6082:Dennd5b
|
UTSW |
6 |
148,970,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6556:Dennd5b
|
UTSW |
6 |
148,915,749 (GRCm39) |
splice site |
probably null |
|
|
R6812:Dennd5b
|
UTSW |
6 |
148,982,630 (GRCm39) |
start gained |
probably benign |
|
|
R7104:Dennd5b
|
UTSW |
6 |
148,946,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7231:Dennd5b
|
UTSW |
6 |
148,946,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7325:Dennd5b
|
UTSW |
6 |
148,922,068 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7399:Dennd5b
|
UTSW |
6 |
148,937,981 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7516:Dennd5b
|
UTSW |
6 |
148,969,878 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7751:Dennd5b
|
UTSW |
6 |
148,918,604 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7763:Dennd5b
|
UTSW |
6 |
148,970,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7770:Dennd5b
|
UTSW |
6 |
148,943,214 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7788:Dennd5b
|
UTSW |
6 |
148,970,064 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7854:Dennd5b
|
UTSW |
6 |
148,969,964 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7899:Dennd5b
|
UTSW |
6 |
148,943,159 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8226:Dennd5b
|
UTSW |
6 |
148,915,746 (GRCm39) |
splice site |
probably null |
|
|
R8328:Dennd5b
|
UTSW |
6 |
148,922,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8489:Dennd5b
|
UTSW |
6 |
148,986,389 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8517:Dennd5b
|
UTSW |
6 |
148,930,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8556:Dennd5b
|
UTSW |
6 |
148,895,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Dennd5b
|
UTSW |
6 |
148,911,272 (GRCm39) |
nonsense |
probably null |
|
|
R8946:Dennd5b
|
UTSW |
6 |
148,943,485 (GRCm39) |
intron |
probably benign |
|
|
R8966:Dennd5b
|
UTSW |
6 |
148,901,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9122:Dennd5b
|
UTSW |
6 |
148,908,240 (GRCm39) |
missense |
|
|
|
R9178:Dennd5b
|
UTSW |
6 |
148,934,844 (GRCm39) |
nonsense |
probably null |
|
|
R9208:Dennd5b
|
UTSW |
6 |
149,002,698 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9465:Dennd5b
|
UTSW |
6 |
148,908,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9535:Dennd5b
|
UTSW |
6 |
148,895,365 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9541:Dennd5b
|
UTSW |
6 |
148,899,872 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9731:Dennd5b
|
UTSW |
6 |
148,970,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9760:Dennd5b
|
UTSW |
6 |
148,969,997 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9783:Dennd5b
|
UTSW |
6 |
148,911,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCACTTTGCCTTGTCTGCAG -3'
(R):5'- GGGGAGCCAGTTACACTGTATC -3'
Sequencing Primer
(F):5'- TCTGCAGAGTGGAGACTGTTCAAAC -3'
(R):5'- GCCAGTTACACTGTATCTGTTAGAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation