Incidental Mutation 'R7516:Dennd5b'
| ID |
582455 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN/MADD domain containing 5B |
| Synonyms |
9330160C06Rik, D030011O10Rik |
| MMRRC Submission |
045589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R7516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148988071-149101680 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149068380 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 192
(I192V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
[ENSMUST00000127727]
[ENSMUST00000145555]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000111557
AA Change: I192V
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: I192V
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
A |
14: 68,630,676 (GRCm38) |
I407F |
probably damaging |
Het |
| Agbl1 |
A |
G |
7: 76,425,921 (GRCm38) |
Y437C |
probably damaging |
Het |
| Alkbh5 |
T |
C |
11: 60,539,153 (GRCm38) |
V244A |
probably damaging |
Het |
| Arap1 |
T |
C |
7: 101,409,331 (GRCm38) |
F1390L |
probably benign |
Het |
| Asph |
T |
C |
4: 9,630,940 (GRCm38) |
D136G |
possibly damaging |
Het |
| Atp8a2 |
A |
T |
14: 59,857,067 (GRCm38) |
Y841N |
probably damaging |
Het |
| Cald1 |
A |
T |
6: 34,709,557 (GRCm38) |
|
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,638,840 (GRCm38) |
I400T |
possibly damaging |
Het |
| Cdh18 |
T |
A |
15: 23,259,598 (GRCm38) |
|
probably null |
Het |
| Ces2h |
T |
A |
8: 105,016,826 (GRCm38) |
L204Q |
probably damaging |
Het |
| Chrna3 |
G |
A |
9: 55,015,369 (GRCm38) |
A385V |
probably benign |
Het |
| Clca4a |
A |
T |
3: 144,966,248 (GRCm38) |
L311Q |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,583,385 (GRCm38) |
V1149A |
probably benign |
Het |
| Clip3 |
T |
A |
7: 30,298,843 (GRCm38) |
V238D |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,612,910 (GRCm38) |
|
probably null |
Het |
| Coro2a |
A |
G |
4: 46,562,992 (GRCm38) |
V54A |
probably benign |
Het |
| Crem |
T |
C |
18: 3,299,141 (GRCm38) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,170,479 (GRCm38) |
N1209S |
probably benign |
Het |
| Ero1l |
T |
A |
14: 45,288,023 (GRCm38) |
M385L |
probably benign |
Het |
| Fam13a |
A |
T |
6: 58,955,263 (GRCm38) |
V375D |
probably damaging |
Het |
| Fgfbp3 |
T |
A |
19: 36,918,924 (GRCm38) |
Y98F |
possibly damaging |
Het |
| Frem3 |
T |
C |
8: 80,612,083 (GRCm38) |
V335A |
probably damaging |
Het |
| Gm19410 |
T |
A |
8: 35,796,279 (GRCm38) |
D951E |
probably benign |
Het |
| Gpatch1 |
T |
C |
7: 35,308,200 (GRCm38) |
D145G |
probably benign |
Het |
| H60c |
G |
T |
10: 3,259,746 (GRCm38) |
C180* |
probably null |
Het |
| Hmcn1 |
T |
C |
1: 150,622,967 (GRCm38) |
T4054A |
probably benign |
Het |
| Hrg |
A |
G |
16: 22,961,298 (GRCm38) |
Y442C |
unknown |
Het |
| Hspg2 |
C |
T |
4: 137,542,620 (GRCm38) |
R2327C |
possibly damaging |
Het |
| Klhl31 |
G |
T |
9: 77,651,147 (GRCm38) |
A382S |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 119,070,698 (GRCm38) |
V960A |
probably damaging |
Het |
| Lztr1 |
C |
T |
16: 17,509,661 (GRCm38) |
A76V |
possibly damaging |
Het |
| Me3 |
G |
T |
7: 89,847,975 (GRCm38) |
E395* |
probably null |
Het |
| Morc2b |
G |
A |
17: 33,137,461 (GRCm38) |
H446Y |
probably benign |
Het |
| Mroh7 |
A |
T |
4: 106,691,119 (GRCm38) |
M1054K |
probably benign |
Het |
| Ms4a6b |
T |
C |
19: 11,529,543 (GRCm38) |
V232A |
probably benign |
Het |
| Nmt2 |
C |
A |
2: 3,312,730 (GRCm38) |
D224E |
probably damaging |
Het |
| Nox4 |
C |
A |
7: 87,321,697 (GRCm38) |
R261S |
probably benign |
Het |
| Obscn |
T |
A |
11: 59,124,590 (GRCm38) |
K1019* |
probably null |
Het |
| Olfr1058 |
C |
T |
2: 86,385,984 (GRCm38) |
V145I |
probably benign |
Het |
| Olfr1234 |
T |
A |
2: 89,363,375 (GRCm38) |
N18I |
probably benign |
Het |
| Olfr1288 |
T |
A |
2: 111,478,937 (GRCm38) |
V51D |
probably benign |
Het |
| Olfr492 |
G |
A |
7: 108,323,016 (GRCm38) |
S220F |
probably damaging |
Het |
| Pcdha11 |
A |
T |
18: 37,011,618 (GRCm38) |
N254I |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,542,456 (GRCm38) |
I54N |
probably benign |
Het |
| Pkd1l3 |
T |
A |
8: 109,635,229 (GRCm38) |
W978R |
probably damaging |
Het |
| Plxna4 |
T |
C |
6: 32,237,768 (GRCm38) |
T593A |
probably benign |
Het |
| Podn |
G |
A |
4: 108,022,124 (GRCm38) |
R266W |
probably damaging |
Het |
| Ptpn22 |
A |
G |
3: 103,885,538 (GRCm38) |
D335G |
probably benign |
Het |
| Pxn |
A |
G |
5: 115,506,863 (GRCm38) |
D3G |
unknown |
Het |
| Rapgefl1 |
T |
G |
11: 98,846,134 (GRCm38) |
V320G |
probably benign |
Het |
| Rel |
A |
G |
11: 23,742,785 (GRCm38) |
I416T |
probably benign |
Het |
| Sema5b |
A |
G |
16: 35,651,170 (GRCm38) |
N378D |
probably benign |
Het |
| Sh3bp4 |
C |
A |
1: 89,145,646 (GRCm38) |
L739M |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,625,971 (GRCm38) |
D191V |
probably damaging |
Het |
| Slc3a1 |
T |
C |
17: 85,063,762 (GRCm38) |
Y581H |
probably damaging |
Het |
| Smcr8 |
G |
T |
11: 60,779,988 (GRCm38) |
C654F |
probably benign |
Het |
| Spta1 |
A |
C |
1: 174,197,783 (GRCm38) |
Q738P |
probably damaging |
Het |
| Sptlc3 |
C |
A |
2: 139,589,518 (GRCm38) |
A320D |
probably benign |
Het |
| Thnsl2 |
T |
A |
6: 71,132,006 (GRCm38) |
K274* |
probably null |
Het |
| Tmed2 |
T |
A |
5: 124,546,992 (GRCm38) |
I68K |
possibly damaging |
Het |
| Tmtc4 |
G |
A |
14: 122,943,323 (GRCm38) |
A326V |
possibly damaging |
Het |
| Tnks2 |
T |
A |
19: 36,871,664 (GRCm38) |
S179T |
possibly damaging |
Het |
| Trim34b |
G |
T |
7: 104,329,711 (GRCm38) |
C55F |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 45,305,020 (GRCm38) |
E1129V |
probably damaging |
Het |
| Tvp23b |
T |
C |
11: 62,892,041 (GRCm38) |
S188P |
possibly damaging |
Het |
| Usp1 |
A |
G |
4: 98,934,119 (GRCm38) |
T557A |
probably damaging |
Het |
| Vmn2r66 |
C |
T |
7: 85,011,968 (GRCm38) |
C18Y |
possibly damaging |
Het |
| Vmn2r85 |
T |
A |
10: 130,418,983 (GRCm38) |
T611S |
probably damaging |
Het |
| Vps13c |
T |
C |
9: 67,955,007 (GRCm38) |
S2969P |
possibly damaging |
Het |
| Wdr74 |
T |
A |
19: 8,736,190 (GRCm38) |
C62* |
probably null |
Het |
| Wfikkn1 |
A |
T |
17: 25,878,046 (GRCm38) |
C435S |
probably damaging |
Het |
| Zbtb45 |
A |
T |
7: 13,006,342 (GRCm38) |
F449I |
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 |
|
|
R6828:Dennd5b
|
UTSW |
6 |
148,993,746 (GRCm38) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- AAGAGGGAGTTCATTGGGCC -3'
(R):5'- ATGCAGACACTGTACCAGATG -3'
Sequencing Primer
(F):5'- TGGCAGATGACAGGTTCATAAACAC -3'
(R):5'- CTGTACCAGATGCATAATGCTGAGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation