Incidental Mutation 'R9178:Dennd5b'
| ID |
696813 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN domain containing 5B |
| Synonyms |
D030011O10Rik, 9330160C06Rik |
| MMRRC Submission |
068978-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9178 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 148934844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 676
(R676*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111557
AA Change: R676*
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: R676*
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,880,992 (GRCm39) |
T146S |
unknown |
Het |
| Abca8b |
A |
T |
11: 109,840,937 (GRCm39) |
F1079I |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,403,218 (GRCm39) |
Q1572L |
possibly damaging |
Het |
| Akna |
T |
C |
4: 63,312,846 (GRCm39) |
T426A |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,338,448 (GRCm39) |
|
probably benign |
Het |
| Apc2 |
G |
A |
10: 80,150,235 (GRCm39) |
G1763E |
probably benign |
Het |
| Bmp1 |
G |
T |
14: 70,727,613 (GRCm39) |
R657S |
possibly damaging |
Het |
| Calm1 |
G |
A |
12: 100,171,979 (GRCm39) |
|
probably null |
Het |
| Ccdc150 |
C |
A |
1: 54,311,644 (GRCm39) |
A210E |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,958,401 (GRCm39) |
I275T |
|
Het |
| Cfap54 |
G |
T |
10: 92,830,579 (GRCm39) |
Q1186K |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,659,169 (GRCm39) |
V592A |
probably benign |
Het |
| Colec11 |
A |
T |
12: 28,644,854 (GRCm39) |
N213K |
possibly damaging |
Het |
| Dennd2b |
C |
T |
7: 109,156,291 (GRCm39) |
G153D |
probably benign |
Het |
| Dnaaf5 |
T |
G |
5: 139,138,652 (GRCm39) |
Y278D |
probably damaging |
Het |
| Dop1a |
T |
A |
9: 86,371,796 (GRCm39) |
Y162* |
probably null |
Het |
| Dync1li2 |
A |
G |
8: 105,150,255 (GRCm39) |
L369P |
possibly damaging |
Het |
| Ebf1 |
A |
G |
11: 44,883,276 (GRCm39) |
T505A |
probably benign |
Het |
| Ebf1 |
A |
G |
11: 44,895,548 (GRCm39) |
I584M |
probably benign |
Het |
| Eif1ad17 |
A |
G |
12: 87,978,786 (GRCm39) |
R57G |
probably damaging |
Het |
| Frmpd1 |
T |
C |
4: 45,285,367 (GRCm39) |
L1396P |
probably damaging |
Het |
| Gart |
A |
T |
16: 91,430,904 (GRCm39) |
V386D |
possibly damaging |
Het |
| Gprin1 |
C |
T |
13: 54,885,601 (GRCm39) |
R891H |
probably damaging |
Het |
| Gsap |
G |
A |
5: 21,422,471 (GRCm39) |
V147I |
probably damaging |
Het |
| Gsc |
G |
T |
12: 104,439,120 (GRCm39) |
Y85* |
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 88,976,152 (GRCm39) |
N5S |
|
Het |
| Hmcn2 |
T |
C |
2: 31,281,521 (GRCm39) |
V1912A |
possibly damaging |
Het |
| Icos |
G |
T |
1: 61,034,714 (GRCm39) |
S179I |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,464,969 (GRCm39) |
L33P |
probably damaging |
Het |
| Igsf10 |
A |
G |
3: 59,233,480 (GRCm39) |
I1751T |
possibly damaging |
Het |
| Il31ra |
T |
C |
13: 112,677,780 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ints6 |
A |
T |
14: 62,947,036 (GRCm39) |
S310T |
probably damaging |
Het |
| Kcng1 |
A |
T |
2: 168,111,105 (GRCm39) |
S20T |
possibly damaging |
Het |
| Klf15 |
T |
C |
6: 90,444,091 (GRCm39) |
I222T |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,044,906 (GRCm39) |
K53* |
probably null |
Het |
| Map10 |
C |
A |
8: 126,397,649 (GRCm39) |
N347K |
probably damaging |
Het |
| Mrps11 |
C |
A |
7: 78,440,444 (GRCm39) |
T111K |
probably damaging |
Het |
| Myom3 |
T |
G |
4: 135,506,710 (GRCm39) |
D494E |
probably benign |
Het |
| Naalad2 |
T |
A |
9: 18,242,152 (GRCm39) |
Y584F |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,826,050 (GRCm39) |
V9A |
probably benign |
Het |
| Nrcam |
G |
T |
12: 44,615,329 (GRCm39) |
V640F |
possibly damaging |
Het |
| Or10x4 |
C |
T |
1: 174,219,229 (GRCm39) |
T198I |
probably benign |
Het |
| Or2t48 |
C |
A |
11: 58,420,473 (GRCm39) |
G113V |
probably damaging |
Het |
| Or52d1 |
T |
C |
7: 103,755,720 (GRCm39) |
M78T |
probably benign |
Het |
| Or5ak23 |
G |
A |
2: 85,244,848 (GRCm39) |
A125V |
probably damaging |
Het |
| Pcdhga8 |
T |
A |
18: 37,860,892 (GRCm39) |
H649Q |
probably benign |
Het |
| Pdk1 |
C |
A |
2: 71,730,402 (GRCm39) |
H413Q |
probably benign |
Het |
| Pfkm |
T |
A |
15: 98,027,161 (GRCm39) |
H611Q |
probably damaging |
Het |
| Polr3g |
T |
C |
13: 81,842,535 (GRCm39) |
Y160C |
unknown |
Het |
| Ppargc1b |
A |
T |
18: 61,443,993 (GRCm39) |
M406K |
probably benign |
Het |
| Ptf1a |
C |
T |
2: 19,450,536 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
T |
2: 37,295,264 (GRCm39) |
C251S |
possibly damaging |
Het |
| Rnf32 |
A |
G |
5: 29,411,211 (GRCm39) |
T166A |
possibly damaging |
Het |
| Sav1 |
A |
T |
12: 70,022,790 (GRCm39) |
V254E |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,797,526 (GRCm39) |
N234D |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,590 (GRCm39) |
P766S |
possibly damaging |
Het |
| Skida1 |
T |
A |
2: 18,050,489 (GRCm39) |
K801* |
probably null |
Het |
| Slc22a5 |
G |
A |
11: 53,774,547 (GRCm39) |
T146I |
probably benign |
Het |
| Slc25a24 |
G |
T |
3: 109,064,268 (GRCm39) |
A206S |
possibly damaging |
Het |
| Slc39a6 |
G |
A |
18: 24,733,970 (GRCm39) |
R240W |
probably damaging |
Het |
| Ssc5d |
T |
A |
7: 4,930,058 (GRCm39) |
D46E |
probably damaging |
Het |
| Tekt4 |
C |
T |
17: 25,690,901 (GRCm39) |
A69V |
possibly damaging |
Het |
| Tmigd1 |
T |
A |
11: 76,804,878 (GRCm39) |
F239Y |
probably benign |
Het |
| Tpp1 |
T |
A |
7: 105,400,846 (GRCm39) |
R60S |
probably benign |
Het |
| Trank1 |
A |
T |
9: 111,196,268 (GRCm39) |
I1431F |
probably damaging |
Het |
| Trav15-1-dv6-1 |
G |
T |
14: 53,797,519 (GRCm39) |
W56L |
probably damaging |
Het |
| Ugt2b38 |
A |
G |
5: 87,568,396 (GRCm39) |
S300P |
probably damaging |
Het |
| Urah |
T |
A |
7: 140,417,587 (GRCm39) |
L119Q |
unknown |
Het |
| Uspl1 |
T |
A |
5: 149,141,148 (GRCm39) |
F382L |
probably damaging |
Het |
| Vps9d1 |
T |
A |
8: 123,975,574 (GRCm39) |
Q157L |
probably damaging |
Het |
| Wbp1l |
G |
A |
19: 46,640,933 (GRCm39) |
V88I |
probably benign |
Het |
| Zfp444 |
T |
C |
7: 6,191,157 (GRCm39) |
S113P |
probably damaging |
Het |
| Zfp580 |
T |
G |
7: 5,056,152 (GRCm39) |
S171A |
possibly damaging |
Het |
| Zfp607a |
A |
G |
7: 27,577,382 (GRCm39) |
I151V |
probably benign |
Het |
| Zfp827 |
T |
C |
8: 79,818,564 (GRCm39) |
F614S |
probably damaging |
Het |
| Zic4 |
A |
T |
9: 91,260,913 (GRCm39) |
Q56L |
possibly 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 |
|
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 |
|
|
|
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'- TACCTTCAGGAGACCTAATGAAC -3'
(R):5'- TTGAAAGACTAGGTATAGTGGCAC -3'
Sequencing Primer
(F):5'- AGCTGGAAAAGTGTTTTCTGCTATAC -3'
(R):5'- CAGGAGGATCATGATTTCAAGTCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation