Incidental Mutation 'R4725:Dennd5b'
| ID |
358403 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN domain containing 5B |
| Synonyms |
D030011O10Rik, 9330160C06Rik |
| MMRRC Submission |
041960-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R4725 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148946277 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 445
(Y445H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111557
AA Change: Y445H
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: Y445H
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120216
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150436
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204583
|
| Meta Mutation Damage Score |
0.1023 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
96% (64/67) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5830454E08Rik |
T |
C |
9: 120,406,769 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
T |
C |
15: 94,249,643 (GRCm39) |
E458G |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,914,052 (GRCm39) |
I1220T |
possibly damaging |
Het |
| Aldh1a1 |
T |
A |
19: 20,617,445 (GRCm39) |
M459K |
probably benign |
Het |
| Bmal1 |
C |
A |
7: 112,903,566 (GRCm39) |
P454Q |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,232,953 (GRCm39) |
V240A |
probably benign |
Het |
| Ccdc88b |
C |
T |
19: 6,834,481 (GRCm39) |
G149R |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,494,602 (GRCm39) |
V870A |
probably benign |
Het |
| Cep192 |
A |
C |
18: 67,949,837 (GRCm39) |
Q307P |
probably benign |
Het |
| Cep63 |
T |
C |
9: 102,467,755 (GRCm39) |
|
probably benign |
Het |
| Cldn12 |
A |
G |
5: 5,558,385 (GRCm39) |
F14S |
probably damaging |
Het |
| Ctdsp1 |
G |
A |
1: 74,433,823 (GRCm39) |
V135I |
possibly damaging |
Het |
| Dcaf10 |
G |
A |
4: 45,372,769 (GRCm39) |
R394Q |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,404,460 (GRCm39) |
D2694G |
probably damaging |
Het |
| Dchs1 |
C |
G |
7: 105,414,759 (GRCm39) |
G761A |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,346,743 (GRCm39) |
L225* |
probably null |
Het |
| Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
| Dysf |
A |
T |
6: 84,074,738 (GRCm39) |
N527I |
probably damaging |
Het |
| Erbb2 |
A |
G |
11: 98,315,970 (GRCm39) |
T358A |
possibly damaging |
Het |
| Fhad1 |
A |
T |
4: 141,655,689 (GRCm39) |
|
probably null |
Het |
| Ganc |
T |
C |
2: 120,265,754 (GRCm39) |
I434T |
probably damaging |
Het |
| Gm5830 |
T |
A |
1: 78,945,549 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6096 |
G |
T |
7: 33,950,484 (GRCm39) |
E8* |
probably null |
Het |
| Gne |
A |
G |
4: 44,066,806 (GRCm39) |
F63S |
probably benign |
Het |
| Gpat2 |
T |
C |
2: 127,273,902 (GRCm39) |
V315A |
possibly damaging |
Het |
| Gpr33 |
A |
G |
12: 52,070,892 (GRCm39) |
L49P |
probably damaging |
Het |
| Heatr1 |
C |
T |
13: 12,439,543 (GRCm39) |
Q1374* |
probably null |
Het |
| Hivep1 |
A |
G |
13: 42,316,887 (GRCm39) |
I2032V |
probably benign |
Het |
| Igkv2-112 |
A |
C |
6: 68,197,450 (GRCm39) |
I40L |
probably benign |
Het |
| Kcnab3 |
A |
G |
11: 69,221,294 (GRCm39) |
N204D |
probably benign |
Het |
| Kcnj10 |
T |
A |
1: 172,196,726 (GRCm39) |
F80Y |
probably damaging |
Het |
| Lcmt2 |
C |
G |
2: 120,969,911 (GRCm39) |
V171L |
probably benign |
Het |
| Loxhd1 |
T |
A |
18: 77,483,153 (GRCm39) |
Y1245N |
probably damaging |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,655,635 (GRCm39) |
S170P |
possibly damaging |
Het |
| Mroh4 |
A |
G |
15: 74,487,956 (GRCm39) |
L322P |
probably damaging |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Nudcd3 |
A |
T |
11: 6,143,475 (GRCm39) |
V1D |
probably damaging |
Het |
| Pah |
T |
A |
10: 87,390,238 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pik3cg |
A |
T |
12: 32,243,596 (GRCm39) |
|
probably null |
Het |
| Pira13 |
A |
C |
7: 3,824,547 (GRCm39) |
S611A |
probably benign |
Het |
| Plekha6 |
C |
A |
1: 133,211,058 (GRCm39) |
S625Y |
probably damaging |
Het |
| Rtn4 |
T |
A |
11: 29,658,362 (GRCm39) |
S839T |
probably damaging |
Het |
| Rusc1 |
A |
G |
3: 88,998,736 (GRCm39) |
S349P |
possibly damaging |
Het |
| Samsn1 |
A |
T |
16: 75,742,217 (GRCm39) |
|
noncoding transcript |
Het |
| Scimp |
A |
G |
11: 70,691,539 (GRCm39) |
V30A |
probably damaging |
Het |
| Serpinb13 |
C |
T |
1: 106,910,574 (GRCm39) |
S66L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,419 (GRCm39) |
D680G |
probably damaging |
Het |
| Slc44a2 |
G |
A |
9: 21,259,691 (GRCm39) |
V613M |
probably damaging |
Het |
| Smpdl3b |
T |
C |
4: 132,472,489 (GRCm39) |
T95A |
probably damaging |
Het |
| Spag6l |
A |
T |
16: 16,610,395 (GRCm39) |
L85H |
probably damaging |
Het |
| Sucla2 |
T |
A |
14: 73,806,429 (GRCm39) |
Y167N |
possibly damaging |
Het |
| Svop |
G |
T |
5: 114,203,546 (GRCm39) |
|
probably benign |
Het |
| Tnxb |
A |
T |
17: 34,918,041 (GRCm39) |
D2318V |
probably damaging |
Het |
| Trbv14 |
A |
G |
6: 41,112,332 (GRCm39) |
D43G |
probably benign |
Het |
| Ubn2 |
A |
G |
6: 38,499,240 (GRCm39) |
|
probably benign |
Het |
| Ufsp1 |
T |
C |
5: 137,293,569 (GRCm39) |
I173T |
probably damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,746,072 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
|
R6828:Dennd5b
|
UTSW |
6 |
148,895,244 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- CATCTGTGTAAAGCGGTTGGC -3'
(R):5'- TGAAGAATTTCCACAGTTCCCC -3'
Sequencing Primer
(F):5'- AAGACCTCTCGCAGCTGTACATTG -3'
(R):5'- TTTCCACAGTTCCCCAATAAAGTGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation