Incidental Mutation 'IGL03085:Dennd5b'
| ID |
418036 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN domain containing 5B |
| Synonyms |
D030011O10Rik, 9330160C06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
IGL03085
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 148928893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 760
(V760A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111557
AA Change: V760A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: V760A
| 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: ENSMUST00000150436
|
| Coding Region Coverage |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
A |
T |
14: 64,208,881 (GRCm39) |
H230Q |
probably benign |
Het |
| Aagab |
T |
A |
9: 63,546,316 (GRCm39) |
|
probably benign |
Het |
| Actl11 |
G |
T |
9: 107,806,749 (GRCm39) |
K357N |
probably damaging |
Het |
| Aktip |
A |
G |
8: 91,852,651 (GRCm39) |
|
probably null |
Het |
| Amtn |
A |
G |
5: 88,529,501 (GRCm39) |
|
probably benign |
Het |
| Arhgap21 |
T |
A |
2: 20,919,532 (GRCm39) |
M58L |
probably benign |
Het |
| Art2b |
T |
A |
7: 101,229,785 (GRCm39) |
Y38F |
probably damaging |
Het |
| Asb10 |
T |
C |
5: 24,744,601 (GRCm39) |
|
probably benign |
Het |
| Atm |
A |
T |
9: 53,395,471 (GRCm39) |
D1699E |
possibly damaging |
Het |
| Azi2 |
A |
C |
9: 117,888,214 (GRCm39) |
K259T |
probably damaging |
Het |
| Bcas3 |
A |
G |
11: 85,367,609 (GRCm39) |
D77G |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,903,945 (GRCm39) |
R1246H |
probably damaging |
Het |
| Cdh13 |
C |
A |
8: 120,015,463 (GRCm39) |
D559E |
probably damaging |
Het |
| Chrm3 |
C |
T |
13: 9,927,570 (GRCm39) |
A489T |
probably damaging |
Het |
| Ckap2l |
A |
T |
2: 129,126,967 (GRCm39) |
Y404N |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,895,015 (GRCm39) |
|
probably benign |
Het |
| Col4a1 |
T |
A |
8: 11,272,198 (GRCm39) |
K731* |
probably null |
Het |
| Corin |
A |
T |
5: 72,511,273 (GRCm39) |
C360S |
probably damaging |
Het |
| Cyp1a1 |
A |
C |
9: 57,608,995 (GRCm39) |
H292P |
possibly damaging |
Het |
| Dhx57 |
T |
C |
17: 80,565,526 (GRCm39) |
D842G |
possibly damaging |
Het |
| Emp2 |
C |
A |
16: 10,105,910 (GRCm39) |
|
probably benign |
Het |
| Eral1 |
G |
A |
11: 77,969,093 (GRCm39) |
R136C |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,174,072 (GRCm39) |
M2214L |
probably benign |
Het |
| Flnb |
G |
A |
14: 7,882,211 (GRCm38) |
R304H |
probably benign |
Het |
| G6pd2 |
A |
T |
5: 61,967,645 (GRCm39) |
E473D |
probably benign |
Het |
| Gpx8 |
A |
G |
13: 113,179,795 (GRCm39) |
Y169H |
probably damaging |
Het |
| Ighv1-64 |
A |
G |
12: 115,471,461 (GRCm39) |
S19P |
possibly damaging |
Het |
| Ikbkb |
G |
T |
8: 23,172,802 (GRCm39) |
N139K |
probably benign |
Het |
| Inpp5b |
A |
T |
4: 124,686,115 (GRCm39) |
T720S |
probably benign |
Het |
| Kmt2d |
C |
A |
15: 98,737,821 (GRCm39) |
|
probably benign |
Het |
| Lrig2 |
G |
A |
3: 104,374,575 (GRCm39) |
P169S |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,655 (GRCm39) |
K1354I |
possibly damaging |
Het |
| Mapk9 |
A |
T |
11: 49,757,865 (GRCm39) |
D103V |
probably damaging |
Het |
| Mrpl46 |
A |
T |
7: 78,431,333 (GRCm39) |
I75N |
probably damaging |
Het |
| Or3a1c |
T |
A |
11: 74,046,511 (GRCm39) |
I177N |
probably damaging |
Het |
| Or8b41 |
A |
G |
9: 38,054,479 (GRCm39) |
E16G |
probably damaging |
Het |
| Or8d2b |
G |
A |
9: 38,788,959 (GRCm39) |
M162I |
probably benign |
Het |
| Otog |
G |
T |
7: 45,955,346 (GRCm39) |
|
probably null |
Het |
| Pex11a |
A |
G |
7: 79,387,523 (GRCm39) |
L103P |
probably damaging |
Het |
| Pnpla8 |
A |
G |
12: 44,358,305 (GRCm39) |
T687A |
probably benign |
Het |
| Ppm1d |
A |
G |
11: 85,227,989 (GRCm39) |
I302V |
probably null |
Het |
| Prdm11 |
C |
A |
2: 92,805,304 (GRCm39) |
V549F |
possibly damaging |
Het |
| Prss54 |
G |
A |
8: 96,292,258 (GRCm39) |
P107L |
probably benign |
Het |
| Rasa3 |
T |
A |
8: 13,635,690 (GRCm39) |
N422I |
probably benign |
Het |
| Rbm27 |
T |
C |
18: 42,460,589 (GRCm39) |
|
probably benign |
Het |
| Rpl13-ps3 |
A |
T |
14: 59,131,156 (GRCm39) |
|
noncoding transcript |
Het |
| Rps6ka2 |
G |
A |
17: 7,562,679 (GRCm39) |
|
probably null |
Het |
| Sphkap |
T |
A |
1: 83,258,075 (GRCm39) |
I223F |
possibly damaging |
Het |
| Srm |
T |
C |
4: 148,677,838 (GRCm39) |
F159L |
probably damaging |
Het |
| Stt3a |
A |
G |
9: 36,644,266 (GRCm39) |
|
probably benign |
Het |
| Tacr3 |
T |
C |
3: 134,638,027 (GRCm39) |
S395P |
possibly damaging |
Het |
| Tecpr2 |
A |
G |
12: 110,921,260 (GRCm39) |
|
probably benign |
Het |
| Tmub1 |
C |
T |
5: 24,651,096 (GRCm39) |
G188S |
probably damaging |
Het |
| Trim66 |
T |
A |
7: 109,057,952 (GRCm39) |
I877F |
probably benign |
Het |
| Ubr5 |
T |
C |
15: 38,029,812 (GRCm39) |
E471G |
probably damaging |
Het |
| Vmn1r218 |
A |
T |
13: 23,321,481 (GRCm39) |
Y196F |
possibly damaging |
Het |
| Vmn2r89 |
T |
A |
14: 51,689,615 (GRCm39) |
D39E |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 109,723,805 (GRCm39) |
P240Q |
probably damaging |
Het |
| Zc3h12a |
A |
T |
4: 125,020,813 (GRCm39) |
V10D |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,746,350 (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 |
|
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 |
|
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation