Incidental Mutation 'R6828:Dennd5b'
| ID |
534248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN/MADD domain containing 5B |
| Synonyms |
9330160C06Rik, D030011O10Rik |
| MMRRC Submission |
045020-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6828 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148988071-149101680 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148993746 bp (GRCm38)
|
| 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: 24,326,415 (GRCm38) |
M349K |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,354,606 (GRCm38) |
E472G |
probably damaging |
Het |
| Ap2s1 |
T |
C |
7: 16,748,701 (GRCm38) |
Y94H |
probably damaging |
Het |
| Apeh |
A |
G |
9: 108,087,038 (GRCm38) |
F530L |
probably damaging |
Het |
| Aplnr |
G |
A |
2: 85,139,759 (GRCm38) |
|
probably benign |
Het |
| Arid3b |
A |
G |
9: 57,810,163 (GRCm38) |
|
probably null |
Het |
| Ash1l |
A |
C |
3: 89,076,113 (GRCm38) |
D2874A |
probably benign |
Het |
| Aurka |
T |
A |
2: 172,357,252 (GRCm38) |
R277S |
probably damaging |
Het |
| Calhm4 |
A |
G |
10: 34,043,957 (GRCm38) |
F105L |
possibly damaging |
Het |
| Ccar1 |
C |
A |
10: 62,764,430 (GRCm38) |
W574L |
probably damaging |
Het |
| Cd8b1 |
T |
C |
6: 71,334,116 (GRCm38) |
F207L |
probably benign |
Het |
| Clec14a |
T |
C |
12: 58,268,504 (GRCm38) |
R111G |
probably damaging |
Het |
| Clk3 |
G |
A |
9: 57,760,849 (GRCm38) |
T263I |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,053,633 (GRCm38) |
|
probably null |
Het |
| Col5a3 |
C |
T |
9: 20,798,452 (GRCm38) |
G604D |
unknown |
Het |
| Cracdl |
T |
C |
1: 37,624,817 (GRCm38) |
T667A |
possibly damaging |
Het |
| Crb2 |
ACTGCTGCTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
2: 37,776,409 (GRCm38) |
|
probably benign |
Het |
| Ctps1 |
A |
T |
4: 120,548,138 (GRCm38) |
V369D |
probably damaging |
Het |
| Dmxl1 |
C |
T |
18: 49,921,024 (GRCm38) |
P2566S |
probably damaging |
Het |
| Fam170b |
A |
G |
14: 32,835,958 (GRCm38) |
D250G |
probably damaging |
Het |
| Foxs1 |
G |
A |
2: 152,933,128 (GRCm38) |
Q2* |
probably null |
Het |
| Frmpd1 |
T |
C |
4: 45,275,383 (GRCm38) |
V512A |
probably damaging |
Het |
| Fry |
G |
A |
5: 150,466,446 (GRCm38) |
|
probably null |
Het |
| Gria1 |
A |
G |
11: 57,289,462 (GRCm38) |
Y677C |
probably damaging |
Het |
| Igdcc4 |
T |
C |
9: 65,122,697 (GRCm38) |
I343T |
probably benign |
Het |
| Igkv1-132 |
T |
C |
6: 67,759,713 (GRCm38) |
V5A |
probably benign |
Het |
| Ikzf5 |
A |
T |
7: 131,391,672 (GRCm38) |
C256S |
probably damaging |
Het |
| Itk |
G |
A |
11: 46,341,218 (GRCm38) |
H297Y |
probably damaging |
Het |
| Lamb3 |
A |
G |
1: 193,335,448 (GRCm38) |
E879G |
probably benign |
Het |
| Lpin2 |
T |
C |
17: 71,222,128 (GRCm38) |
V127A |
probably damaging |
Het |
| Man2b1 |
C |
A |
8: 85,086,919 (GRCm38) |
P247T |
possibly damaging |
Het |
| Meak7 |
G |
A |
8: 119,772,567 (GRCm38) |
T62I |
possibly damaging |
Het |
| Mxd3 |
T |
C |
13: 55,326,154 (GRCm38) |
K122E |
probably benign |
Het |
| Npr1 |
C |
A |
3: 90,464,813 (GRCm38) |
V231L |
probably benign |
Het |
| Nsd2 |
C |
T |
5: 33,893,568 (GRCm38) |
A1263V |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,021,533 (GRCm38) |
D374G |
probably damaging |
Het |
| Optc |
A |
T |
1: 133,897,867 (GRCm38) |
I307N |
probably damaging |
Het |
| Or5p80 |
A |
C |
7: 108,630,293 (GRCm38) |
Q100H |
possibly damaging |
Het |
| Or6c3b |
A |
T |
10: 129,691,994 (GRCm38) |
S16T |
probably damaging |
Het |
| Pecr |
C |
A |
1: 72,267,457 (GRCm38) |
E222* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,186,551 (GRCm38) |
N520S |
probably benign |
Het |
| Rhoj |
A |
G |
12: 75,308,879 (GRCm38) |
N19S |
probably benign |
Het |
| Rock2 |
G |
A |
12: 16,942,959 (GRCm38) |
|
probably null |
Het |
| Rpa1 |
G |
A |
11: 75,314,871 (GRCm38) |
T220I |
probably damaging |
Het |
| Sdf2l1 |
C |
G |
16: 17,132,294 (GRCm38) |
R6P |
probably benign |
Het |
| Sipa1l3 |
G |
A |
7: 29,339,032 (GRCm38) |
H397Y |
probably benign |
Het |
| Snrk |
T |
C |
9: 122,137,566 (GRCm38) |
I185T |
probably damaging |
Het |
| Srrt |
A |
T |
5: 137,296,968 (GRCm38) |
V300E |
probably damaging |
Het |
| Taok2 |
A |
T |
7: 126,871,875 (GRCm38) |
|
probably null |
Het |
| Tmem131 |
T |
C |
1: 36,804,643 (GRCm38) |
K1379R |
possibly damaging |
Het |
| Usp15 |
T |
C |
10: 123,127,989 (GRCm38) |
I543V |
probably damaging |
Het |
| Zfp553 |
A |
G |
7: 127,236,275 (GRCm38) |
E334G |
probably damaging |
Het |
| Zim1 |
T |
C |
7: 6,677,689 (GRCm38) |
Y325C |
probably damaging |
Het |
|
| Other mutations in Dennd5b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00518:Dennd5b
|
APN |
6 |
149,027,330 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00590:Dennd5b
|
APN |
6 |
149,068,308 (GRCm38) |
missense |
probably benign |
0.03 |
|
IGL00727:Dennd5b
|
APN |
6 |
149,006,716 (GRCm38) |
splice site |
probably benign |
|
|
IGL00838:Dennd5b
|
APN |
6 |
149,005,363 (GRCm38) |
splice site |
probably benign |
|
|
IGL01115:Dennd5b
|
APN |
6 |
149,009,748 (GRCm38) |
splice site |
probably benign |
|
|
IGL01150:Dennd5b
|
APN |
6 |
149,068,085 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01873:Dennd5b
|
APN |
6 |
149,044,529 (GRCm38) |
missense |
probably benign |
|
|
IGL01991:Dennd5b
|
APN |
6 |
149,080,824 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Dennd5b
|
APN |
6 |
149,033,301 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02820:Dennd5b
|
APN |
6 |
149,019,342 (GRCm38) |
missense |
probably null |
0.51 |
|
IGL03056:Dennd5b
|
APN |
6 |
149,055,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03085:Dennd5b
|
APN |
6 |
149,027,395 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03329:Dennd5b
|
APN |
6 |
148,998,260 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R0081:Dennd5b
|
UTSW |
6 |
148,993,759 (GRCm38) |
missense |
probably benign |
0.13 |
|
R0617:Dennd5b
|
UTSW |
6 |
149,033,262 (GRCm38) |
splice site |
probably benign |
|
|
R1241:Dennd5b
|
UTSW |
6 |
149,068,490 (GRCm38) |
missense |
probably benign |
0.06 |
|
R1252:Dennd5b
|
UTSW |
6 |
149,044,487 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1255:Dennd5b
|
UTSW |
6 |
149,041,650 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R1641:Dennd5b
|
UTSW |
6 |
149,068,205 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1674:Dennd5b
|
UTSW |
6 |
148,998,284 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1781:Dennd5b
|
UTSW |
6 |
149,027,398 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1861:Dennd5b
|
UTSW |
6 |
149,068,262 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1907:Dennd5b
|
UTSW |
6 |
149,041,576 (GRCm38) |
missense |
probably benign |
0.00 |
|
R2412:Dennd5b
|
UTSW |
6 |
149,005,238 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3794:Dennd5b
|
UTSW |
6 |
149,101,217 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R3825:Dennd5b
|
UTSW |
6 |
149,044,836 (GRCm38) |
missense |
probably benign |
|
|
R4581:Dennd5b
|
UTSW |
6 |
149,016,984 (GRCm38) |
splice site |
silent |
|
|
R4654:Dennd5b
|
UTSW |
6 |
149,006,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4725:Dennd5b
|
UTSW |
6 |
149,044,779 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R4981:Dennd5b
|
UTSW |
6 |
149,009,772 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4994:Dennd5b
|
UTSW |
6 |
149,041,500 (GRCm38) |
splice site |
probably null |
|
|
R5400:Dennd5b
|
UTSW |
6 |
149,000,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5452:Dennd5b
|
UTSW |
6 |
149,041,513 (GRCm38) |
splice site |
probably null |
|
|
R5548:Dennd5b
|
UTSW |
6 |
149,019,349 (GRCm38) |
splice site |
probably null |
|
|
R5841:Dennd5b
|
UTSW |
6 |
149,044,755 (GRCm38) |
missense |
probably benign |
0.11 |
|
R5996:Dennd5b
|
UTSW |
6 |
149,068,095 (GRCm38) |
missense |
probably benign |
0.22 |
|
R6082:Dennd5b
|
UTSW |
6 |
149,068,695 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6556:Dennd5b
|
UTSW |
6 |
149,014,251 (GRCm38) |
splice site |
probably null |
|
|
R6812:Dennd5b
|
UTSW |
6 |
149,081,132 (GRCm38) |
start gained |
probably benign |
|
|
R7104:Dennd5b
|
UTSW |
6 |
149,044,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7231:Dennd5b
|
UTSW |
6 |
149,044,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7325:Dennd5b
|
UTSW |
6 |
149,020,570 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7399:Dennd5b
|
UTSW |
6 |
149,036,483 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7516:Dennd5b
|
UTSW |
6 |
149,068,380 (GRCm38) |
missense |
probably benign |
0.02 |
|
R7751:Dennd5b
|
UTSW |
6 |
149,017,106 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7763:Dennd5b
|
UTSW |
6 |
149,068,658 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7770:Dennd5b
|
UTSW |
6 |
149,041,716 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7788:Dennd5b
|
UTSW |
6 |
149,068,566 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7854:Dennd5b
|
UTSW |
6 |
149,068,466 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7899:Dennd5b
|
UTSW |
6 |
149,041,661 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8226:Dennd5b
|
UTSW |
6 |
149,014,248 (GRCm38) |
splice site |
probably null |
|
|
R8328:Dennd5b
|
UTSW |
6 |
149,020,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8489:Dennd5b
|
UTSW |
6 |
149,084,891 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8517:Dennd5b
|
UTSW |
6 |
149,029,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8556:Dennd5b
|
UTSW |
6 |
148,993,770 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8693:Dennd5b
|
UTSW |
6 |
149,009,774 (GRCm38) |
nonsense |
probably null |
|
|
R8946:Dennd5b
|
UTSW |
6 |
149,041,987 (GRCm38) |
intron |
probably benign |
|
|
R8966:Dennd5b
|
UTSW |
6 |
148,999,976 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9122:Dennd5b
|
UTSW |
6 |
149,006,742 (GRCm38) |
missense |
|
|
|
R9178:Dennd5b
|
UTSW |
6 |
149,033,346 (GRCm38) |
nonsense |
probably null |
|
|
R9208:Dennd5b
|
UTSW |
6 |
149,101,200 (GRCm38) |
missense |
probably benign |
0.09 |
|
R9465:Dennd5b
|
UTSW |
6 |
149,006,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9535:Dennd5b
|
UTSW |
6 |
148,993,867 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9541:Dennd5b
|
UTSW |
6 |
148,998,374 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9731:Dennd5b
|
UTSW |
6 |
149,068,640 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9760:Dennd5b
|
UTSW |
6 |
149,068,499 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9783:Dennd5b
|
UTSW |
6 |
149,009,844 (GRCm38) |
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