Incidental Mutation 'R1641:Dennd5b'
| ID |
173530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN domain containing 5B |
| Synonyms |
D030011O10Rik, 9330160C06Rik |
| MMRRC Submission |
039677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R1641 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 148969703 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 250
(V250G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
[ENSMUST00000127727]
[ENSMUST00000145555]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111557
AA Change: V250G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: V250G
| 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: ENSMUST00000121283
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127727
|
| SMART Domains |
Protein: ENSMUSP00000123568
Gene: ENSMUSG00000030313
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
18 |
142 |
5.45e-45 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145555
|
| SMART Domains |
Protein: ENSMUSP00000127731
Gene: ENSMUSG00000030313
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
1 |
42 |
3.03e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150436
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
T |
A |
5: 77,039,626 (GRCm39) |
T228S |
probably benign |
Het |
| Adamts2 |
C |
T |
11: 50,683,612 (GRCm39) |
P965S |
probably damaging |
Het |
| Ankrd11 |
A |
G |
8: 123,618,485 (GRCm39) |
I1768T |
probably benign |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Baz2b |
A |
T |
2: 59,743,234 (GRCm39) |
L1579Q |
probably damaging |
Het |
| Btbd7 |
A |
G |
12: 102,757,034 (GRCm39) |
V684A |
probably damaging |
Het |
| Camk1g |
T |
A |
1: 193,038,665 (GRCm39) |
I86F |
probably benign |
Het |
| Capn13 |
A |
T |
17: 73,689,889 (GRCm39) |
S41T |
possibly damaging |
Het |
| Cep192 |
C |
A |
18: 67,980,504 (GRCm39) |
L1422I |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,354,380 (GRCm39) |
F217L |
unknown |
Het |
| Clca3b |
A |
T |
3: 144,529,274 (GRCm39) |
M800K |
possibly damaging |
Het |
| Cplane1 |
A |
G |
15: 8,258,443 (GRCm39) |
T2230A |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,388 (GRCm39) |
V1836A |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,377,188 (GRCm39) |
V2023M |
possibly damaging |
Het |
| Cul9 |
A |
G |
17: 46,854,486 (GRCm39) |
V72A |
possibly damaging |
Het |
| Ddx52 |
T |
C |
11: 83,834,269 (GRCm39) |
|
probably null |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gtpbp4 |
A |
T |
13: 9,023,285 (GRCm39) |
M593K |
probably benign |
Het |
| Il21 |
A |
G |
3: 37,286,681 (GRCm39) |
F12L |
probably benign |
Het |
| Lrit2 |
T |
A |
14: 36,791,105 (GRCm39) |
N261K |
probably benign |
Het |
| Lrrc39 |
G |
T |
3: 116,364,562 (GRCm39) |
C151F |
probably damaging |
Het |
| Lsm14a |
C |
A |
7: 34,050,799 (GRCm39) |
R426L |
probably damaging |
Het |
| Maml1 |
G |
A |
11: 50,157,774 (GRCm39) |
P134S |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,542 (GRCm39) |
C235R |
probably damaging |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nsmaf |
T |
C |
4: 6,409,884 (GRCm39) |
E663G |
probably benign |
Het |
| Ntrk3 |
T |
C |
7: 78,005,822 (GRCm39) |
N513S |
probably damaging |
Het |
| Nufip1 |
T |
G |
14: 76,363,692 (GRCm39) |
N305K |
possibly damaging |
Het |
| Or10al5 |
C |
T |
17: 38,062,916 (GRCm39) |
T57I |
possibly damaging |
Het |
| Or2ag1b |
T |
A |
7: 106,288,918 (GRCm39) |
T7S |
probably benign |
Het |
| Or4c10b |
A |
T |
2: 89,711,745 (GRCm39) |
T192S |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,175 (GRCm39) |
D218V |
probably benign |
Het |
| Or9r3 |
A |
T |
10: 129,947,872 (GRCm39) |
Y262* |
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,194,894 (GRCm39) |
V168A |
probably benign |
Het |
| Prex2 |
T |
C |
1: 11,301,996 (GRCm39) |
V1433A |
probably damaging |
Het |
| Prl7a1 |
A |
T |
13: 27,817,612 (GRCm39) |
D217E |
probably damaging |
Het |
| Prr3 |
G |
A |
17: 36,285,484 (GRCm39) |
R86* |
probably null |
Het |
| Ptprz1 |
T |
C |
6: 23,049,605 (GRCm39) |
F1350L |
probably damaging |
Het |
| R3hcc1l |
T |
C |
19: 42,552,046 (GRCm39) |
S348P |
possibly damaging |
Het |
| Rag2 |
A |
T |
2: 101,459,960 (GRCm39) |
Q90L |
probably benign |
Het |
| Scel |
T |
C |
14: 103,770,752 (GRCm39) |
L62P |
probably damaging |
Het |
| Serpini1 |
A |
T |
3: 75,521,977 (GRCm39) |
E156V |
possibly damaging |
Het |
| Skint4 |
T |
A |
4: 111,993,240 (GRCm39) |
I321K |
possibly damaging |
Het |
| Slc28a2 |
A |
G |
2: 122,286,098 (GRCm39) |
D478G |
probably damaging |
Het |
| Sppl2b |
G |
T |
10: 80,700,965 (GRCm39) |
V164F |
probably damaging |
Het |
| Traf5 |
T |
A |
1: 191,729,470 (GRCm39) |
N527I |
probably benign |
Het |
| Ttc3 |
T |
A |
16: 94,244,176 (GRCm39) |
D17E |
probably benign |
Het |
| Txlnb |
G |
A |
10: 17,682,521 (GRCm39) |
A148T |
possibly damaging |
Het |
| Ubtf |
A |
G |
11: 102,201,757 (GRCm39) |
Y256H |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,868,559 (GRCm39) |
F320S |
possibly damaging |
Het |
| Utp14b |
T |
C |
1: 78,643,656 (GRCm39) |
V518A |
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,593,834 (GRCm39) |
V2192A |
possibly damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,533 (GRCm39) |
M256K |
probably benign |
Het |
| Vmn2r114 |
T |
A |
17: 23,515,962 (GRCm39) |
M510L |
probably benign |
Het |
| Xdh |
T |
A |
17: 74,233,547 (GRCm39) |
Q189L |
probably benign |
Het |
| Zfat |
C |
T |
15: 68,051,959 (GRCm39) |
A605T |
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 |
|
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 |
|
|
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'- CCTTGCTGTGTATGTCTGTAGCCAC -3'
(R):5'- TTCATGCAAGCCTGCAAGAAATTCC -3'
Sequencing Primer
(F):5'- CTGTAGCCACTGATACTTCAAAGG -3'
(R):5'- AGCCTGCAAGAAATTCCTCTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation