Incidental Mutation 'R6556:Dennd5b'
| ID |
522160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN/MADD domain containing 5B |
| Synonyms |
9330160C06Rik, D030011O10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.141)
|
| Stock # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148988071-149101680 bp(-) (GRCm38) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to C
at 149014251 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107182
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000111557]
|
| AlphaFold |
A2RSQ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000111557
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
| 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: ENSMUST00000129539
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150436
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029P11Rik |
A |
G |
15: 81,980,738 (GRCm38) |
D60G |
probably damaging |
Het |
| 2310035C23Rik |
T |
A |
1: 105,726,440 (GRCm38) |
F845I |
probably damaging |
Het |
| 4930539E08Rik |
T |
A |
17: 28,904,611 (GRCm38) |
D114V |
probably damaging |
Het |
| AF366264 |
G |
A |
8: 13,837,690 (GRCm38) |
Q134* |
probably null |
Het |
| Atp2a1 |
G |
T |
7: 126,450,262 (GRCm38) |
P536Q |
probably benign |
Het |
| Cabyr |
T |
A |
18: 12,751,016 (GRCm38) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 73,033,870 (GRCm38) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 118,968,187 (GRCm38) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 53,930,282 (GRCm38) |
D255G |
possibly damaging |
Het |
| Dnajc14 |
A |
G |
10: 128,814,631 (GRCm38) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,854,357 (GRCm38) |
F593S |
probably benign |
Het |
| Erbb2 |
G |
A |
11: 98,436,082 (GRCm38) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,612,921 (GRCm38) |
M794V |
possibly damaging |
Het |
| Fam208a |
T |
G |
14: 27,429,258 (GRCm38) |
Y64D |
probably benign |
Het |
| Fam214b |
C |
T |
4: 43,033,896 (GRCm38) |
R460H |
probably damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,547,177 (GRCm38) |
|
probably null |
Het |
| Gm11639 |
A |
G |
11: 105,008,251 (GRCm38) |
N4343S |
probably null |
Het |
| Gm20730 |
C |
T |
6: 43,081,542 (GRCm38) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,808,665 (GRCm38) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,523,554 (GRCm38) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,742,472 (GRCm38) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,329,555 (GRCm38) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,602,378 (GRCm38) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,271,856 (GRCm38) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,817,763 (GRCm38) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,730,383 (GRCm38) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,776,421 (GRCm38) |
V524D |
probably benign |
Het |
| Olfr1156 |
T |
C |
2: 87,949,976 (GRCm38) |
I86V |
probably benign |
Het |
| Olfr1261 |
T |
A |
2: 89,994,173 (GRCm38) |
F260Y |
probably benign |
Het |
| Olfr1263 |
T |
C |
2: 90,015,094 (GRCm38) |
Y55H |
probably damaging |
Het |
| Pde6b |
T |
A |
5: 108,421,501 (GRCm38) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,158,314 (GRCm38) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 34,896,032 (GRCm38) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,647,338 (GRCm38) |
N524K |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,141,648 (GRCm38) |
D74G |
probably damaging |
Het |
| Serinc2 |
T |
A |
4: 130,258,271 (GRCm38) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,321,253 (GRCm38) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,407 (GRCm38) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,213,692 (GRCm38) |
D367V |
possibly damaging |
Het |
| Tnnt1 |
T |
C |
7: 4,509,577 (GRCm38) |
E110G |
probably damaging |
Het |
| Tpm1 |
T |
A |
9: 67,028,169 (GRCm38) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,944,105 (GRCm38) |
V412A |
probably benign |
Het |
| Uox |
G |
C |
3: 146,624,648 (GRCm38) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,846,008 (GRCm38) |
Y107H |
probably benign |
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 |
|
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 |
|
R7516:Dennd5b
|
UTSW |
6 |
149,068,380 (GRCm38) |
missense |
probably benign |
0.02 |
|
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'- GTGCCTGCTCATCTGAAAAC -3'
(R):5'- TGAACCAACTCACTAGTTCAAGAGG -3'
Sequencing Primer
(F):5'- GCCTGCTCATCTGAAAACTGTTTAC -3'
(R):5'- TACAGATCGTTGTGAGCCAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation