Incidental Mutation 'R8693:Dennd5b'
ID |
668500 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd5b
|
Ensembl Gene |
ENSMUSG00000030313 |
Gene Name |
DENN domain containing 5B |
Synonyms |
D030011O10Rik, 9330160C06Rik |
MMRRC Submission |
068547-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.148)
|
Stock # |
R8693 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 148911272 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 977
(L977*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
AlphaFold |
A2RSQ0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000111557
AA Change: L977*
|
SMART Domains |
Protein: ENSMUSP00000107182 Gene: ENSMUSG00000030313 AA Change: L977*
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: 99.6%
- 20x: 98.8%
|
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 |
Abcc2 |
T |
C |
19: 43,810,474 (GRCm39) |
S924P |
probably benign |
Het |
Acacb |
A |
G |
5: 114,364,844 (GRCm39) |
H1508R |
probably damaging |
Het |
Adam34 |
T |
C |
8: 44,104,641 (GRCm39) |
M335V |
probably benign |
Het |
Akap8 |
A |
T |
17: 32,529,625 (GRCm39) |
N438K |
probably damaging |
Het |
Alpi |
C |
A |
1: 87,026,405 (GRCm39) |
G529C |
unknown |
Het |
Arhgap30 |
T |
C |
1: 171,225,094 (GRCm39) |
V50A |
probably damaging |
Het |
Armh1 |
T |
C |
4: 117,088,960 (GRCm39) |
E145G |
probably damaging |
Het |
Ccdc177 |
A |
G |
12: 80,804,582 (GRCm39) |
L564P |
unknown |
Het |
Cdk12 |
C |
T |
11: 98,141,133 (GRCm39) |
P1458L |
unknown |
Het |
Chek1 |
A |
G |
9: 36,625,140 (GRCm39) |
F314L |
probably benign |
Het |
Cndp1 |
T |
C |
18: 84,646,938 (GRCm39) |
D250G |
probably damaging |
Het |
Cnot3 |
T |
C |
7: 3,656,522 (GRCm39) |
V239A |
probably benign |
Het |
Cplane1 |
T |
C |
15: 8,258,492 (GRCm39) |
M2246T |
probably benign |
Het |
Crhr2 |
A |
G |
6: 55,079,779 (GRCm39) |
F187S |
possibly damaging |
Het |
Dchs2 |
T |
A |
3: 83,192,631 (GRCm39) |
V1692D |
probably damaging |
Het |
Dctd |
T |
A |
8: 48,565,046 (GRCm39) |
I57N |
probably damaging |
Het |
Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
Dysf |
T |
C |
6: 84,088,952 (GRCm39) |
S865P |
probably damaging |
Het |
Eif2ak3 |
A |
T |
6: 70,858,535 (GRCm39) |
I275F |
possibly damaging |
Het |
Eif2ak4 |
T |
A |
2: 118,262,718 (GRCm39) |
I757N |
probably damaging |
Het |
Exog |
A |
G |
9: 119,276,108 (GRCm39) |
Q110R |
possibly damaging |
Het |
Fbxl4 |
T |
C |
4: 22,403,704 (GRCm39) |
C426R |
probably benign |
Het |
Fndc11 |
A |
C |
2: 180,863,864 (GRCm39) |
H223P |
probably damaging |
Het |
Frmd3 |
T |
A |
4: 74,080,286 (GRCm39) |
S334R |
probably damaging |
Het |
Galnt14 |
A |
T |
17: 73,833,257 (GRCm39) |
I239N |
probably damaging |
Het |
Gm5930 |
C |
T |
14: 44,576,015 (GRCm39) |
M1I |
probably null |
Het |
Igkv4-63 |
A |
G |
6: 69,355,051 (GRCm39) |
S77P |
probably benign |
Het |
Igkv5-48 |
G |
A |
6: 69,703,779 (GRCm39) |
S42F |
probably damaging |
Het |
Kalrn |
T |
A |
16: 33,854,884 (GRCm39) |
Y1992F |
probably damaging |
Het |
Kmt2a |
T |
C |
9: 44,721,981 (GRCm39) |
Y3788C |
unknown |
Het |
Lgals4 |
C |
T |
7: 28,540,921 (GRCm39) |
R282C |
probably damaging |
Het |
Lpo |
T |
C |
11: 87,700,066 (GRCm39) |
N525S |
probably benign |
Het |
Med1 |
T |
C |
11: 98,046,599 (GRCm39) |
H1399R |
unknown |
Het |
Mga |
T |
A |
2: 119,794,407 (GRCm39) |
V2697E |
possibly damaging |
Het |
Msto1 |
T |
C |
3: 88,819,184 (GRCm39) |
T188A |
probably benign |
Het |
Nrap |
T |
C |
19: 56,310,384 (GRCm39) |
H1456R |
probably damaging |
Het |
Or10d1 |
G |
T |
9: 39,483,800 (GRCm39) |
P252T |
probably damaging |
Het |
Pbld1 |
A |
T |
10: 62,910,890 (GRCm39) |
K248* |
probably null |
Het |
Pcdhb12 |
G |
A |
18: 37,570,474 (GRCm39) |
R540H |
probably benign |
Het |
Pcx |
G |
T |
19: 4,652,039 (GRCm39) |
A96S |
probably damaging |
Het |
Plcb1 |
A |
G |
2: 135,094,696 (GRCm39) |
I174V |
probably benign |
Het |
Psme3 |
T |
C |
11: 101,211,422 (GRCm39) |
I193T |
probably damaging |
Het |
Pygl |
A |
T |
12: 70,244,180 (GRCm39) |
M587K |
probably benign |
Het |
Rph3a |
A |
T |
5: 121,100,501 (GRCm39) |
H132Q |
probably damaging |
Het |
Scrib |
C |
A |
15: 75,936,354 (GRCm39) |
D501Y |
probably damaging |
Het |
Sdad1 |
C |
A |
5: 92,452,857 (GRCm39) |
R127L |
probably benign |
Het |
Setdb1 |
T |
C |
3: 95,249,041 (GRCm39) |
T356A |
probably damaging |
Het |
Sh3bgrl3 |
T |
C |
4: 133,855,116 (GRCm39) |
D73G |
probably benign |
Het |
Sipa1l1 |
G |
T |
12: 82,216,517 (GRCm39) |
|
probably benign |
Het |
Slc17a8 |
G |
A |
10: 89,428,758 (GRCm39) |
A261V |
probably benign |
Het |
Sox6 |
T |
A |
7: 115,261,632 (GRCm39) |
I195F |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,090,928 (GRCm39) |
K809E |
possibly damaging |
Het |
Tmem30c |
G |
A |
16: 57,086,855 (GRCm39) |
T316M |
probably damaging |
Het |
Tnfrsf19 |
T |
C |
14: 61,208,451 (GRCm39) |
T357A |
probably benign |
Het |
Top2a |
T |
A |
11: 98,900,868 (GRCm39) |
T574S |
probably damaging |
Het |
Trappc3l |
G |
A |
10: 33,974,917 (GRCm39) |
C133Y |
probably damaging |
Het |
Unk |
C |
T |
11: 115,938,640 (GRCm39) |
T81I |
probably damaging |
Het |
Vamp1 |
G |
A |
6: 125,217,388 (GRCm39) |
R144K |
unknown |
Het |
Wnt9b |
T |
C |
11: 103,624,487 (GRCm39) |
N101S |
probably damaging |
Het |
Wwtr1 |
T |
A |
3: 57,369,945 (GRCm39) |
D390V |
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 |
|
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 |
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'- ATGTCAGGTCTCTGGTCCTAAGG -3'
(R):5'- CATCGAGTTCTAGATCCTGTGATG -3'
Sequencing Primer
(F):5'- TAGGACCTGGTGAAGCCTACTAC -3'
(R):5'- GATCCTGTGATGTTTTAATTCACTTC -3'
|
Posted On |
2021-04-30 |