Incidental Mutation 'R9760:Dennd5b'
| ID |
732945 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd5b
|
| Ensembl Gene |
ENSMUSG00000030313 |
| Gene Name |
DENN domain containing 5B |
| Synonyms |
D030011O10Rik, 9330160C06Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.148)
|
| Stock # |
R9760 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
148889569-149003178 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 148969997 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 152
(S152F)
|
| 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: S152F
PolyPhen 2
Score 0.137 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107182
Gene: ENSMUSG00000030313
AA Change: S152F
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.1%
- 20x: 97.7%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abat |
T |
C |
16: 8,399,794 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
A |
1: 171,086,334 (GRCm39) |
D709N |
probably benign |
Het |
| Arhgef12 |
G |
T |
9: 42,903,318 (GRCm39) |
D745E |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,818,473 (GRCm39) |
K883E |
probably benign |
Het |
| Cfdp1 |
T |
C |
8: 112,495,415 (GRCm39) |
I268V |
probably benign |
Het |
| Cgnl1 |
G |
T |
9: 71,552,853 (GRCm39) |
S1037* |
probably null |
Het |
| Clca3b |
T |
C |
3: 144,552,610 (GRCm39) |
N142S |
probably benign |
Het |
| Col6a6 |
A |
T |
9: 105,659,253 (GRCm39) |
I564N |
probably damaging |
Het |
| Coq4 |
G |
T |
2: 29,678,482 (GRCm39) |
R36L |
probably benign |
Het |
| Dact3 |
G |
A |
7: 16,620,131 (GRCm39) |
S542N |
unknown |
Het |
| Dcaf1 |
A |
G |
9: 106,751,466 (GRCm39) |
D1480G |
unknown |
Het |
| Dcdc2a |
C |
T |
13: 25,389,443 (GRCm39) |
T457I |
probably damaging |
Het |
| Ddi2 |
A |
G |
4: 141,411,196 (GRCm39) |
V572A |
probably damaging |
Het |
| Ddx54 |
C |
T |
5: 120,761,672 (GRCm39) |
R483C |
probably benign |
Het |
| Efcab14 |
C |
T |
4: 115,616,072 (GRCm39) |
H252Y |
probably benign |
Het |
| Efhb |
A |
T |
17: 53,770,298 (GRCm39) |
F4I |
probably damaging |
Het |
| Esrrg |
A |
G |
1: 187,775,569 (GRCm39) |
D32G |
probably benign |
Het |
| Far2 |
C |
A |
6: 148,060,448 (GRCm39) |
A267E |
probably damaging |
Het |
| Fhip2b |
A |
C |
14: 70,827,621 (GRCm39) |
V158G |
possibly damaging |
Het |
| Flnb |
T |
C |
14: 7,929,846 (GRCm38) |
I1992T |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,944,527 (GRCm39) |
S169G |
|
Het |
| Galnt10 |
G |
A |
11: 57,656,514 (GRCm39) |
V233I |
probably benign |
Het |
| Gbf1 |
C |
A |
19: 46,244,137 (GRCm39) |
N210K |
probably benign |
Het |
| Gbp3 |
T |
G |
3: 142,276,283 (GRCm39) |
S460A |
probably benign |
Het |
| Gm12185 |
T |
A |
11: 48,806,168 (GRCm39) |
H341L |
probably benign |
Het |
| Gm5592 |
A |
T |
7: 40,939,234 (GRCm39) |
I839F |
possibly damaging |
Het |
| Gnptab |
A |
G |
10: 88,267,310 (GRCm39) |
D467G |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,714,213 (GRCm39) |
M844K |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,020 (GRCm39) |
D368G |
probably benign |
Het |
| Herc2 |
G |
C |
7: 55,813,659 (GRCm39) |
|
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,184,572 (GRCm39) |
Q302R |
possibly damaging |
Het |
| Ins2 |
T |
A |
7: 142,233,185 (GRCm39) |
H29L |
probably damaging |
Het |
| Ipo13 |
T |
A |
4: 117,762,778 (GRCm39) |
Y275F |
probably benign |
Het |
| Kcnj15 |
T |
A |
16: 95,096,483 (GRCm39) |
M35K |
probably benign |
Het |
| Kif21b |
G |
A |
1: 136,076,421 (GRCm39) |
V321M |
probably damaging |
Het |
| Lcmt1 |
T |
A |
7: 123,029,375 (GRCm39) |
Y332* |
probably null |
Het |
| Malt1 |
A |
G |
18: 65,581,283 (GRCm39) |
Q237R |
probably benign |
Het |
| Micall1 |
G |
A |
15: 79,005,032 (GRCm39) |
C168Y |
unknown |
Het |
| Muc5ac |
A |
G |
7: 141,360,985 (GRCm39) |
K1432R |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,551,662 (GRCm39) |
S510P |
probably benign |
Het |
| Nub1 |
T |
C |
5: 24,897,965 (GRCm39) |
L117P |
possibly damaging |
Het |
| Or10al3 |
T |
C |
17: 38,012,434 (GRCm39) |
L291P |
probably damaging |
Het |
| Or5af1 |
A |
G |
11: 58,722,852 (GRCm39) |
R291G |
probably damaging |
Het |
| Or8g24 |
A |
T |
9: 38,989,271 (GRCm39) |
F257I |
possibly damaging |
Het |
| Pkdrej |
T |
C |
15: 85,705,268 (GRCm39) |
K223E |
probably benign |
Het |
| Prkdc |
T |
A |
16: 15,657,044 (GRCm39) |
Y4046* |
probably null |
Het |
| Prpf8 |
A |
G |
11: 75,394,257 (GRCm39) |
N1767D |
probably benign |
Het |
| Prr27 |
C |
A |
5: 87,990,994 (GRCm39) |
P202Q |
probably benign |
Het |
| R3hdm2 |
G |
T |
10: 127,280,182 (GRCm39) |
M18I |
unknown |
Het |
| Rab35 |
C |
A |
5: 115,778,224 (GRCm39) |
D63E |
probably damaging |
Het |
| Ribc2 |
T |
A |
15: 85,027,568 (GRCm39) |
Y350N |
probably benign |
Het |
| Sec63 |
A |
G |
10: 42,704,944 (GRCm39) |
I733V |
probably benign |
Het |
| Slc23a3 |
ATT |
ATTT |
1: 75,109,925 (GRCm39) |
|
probably null |
Het |
| Slc38a4 |
T |
C |
15: 96,896,332 (GRCm39) |
K512E |
probably damaging |
Het |
| Stk35 |
G |
A |
2: 129,642,605 (GRCm39) |
V49I |
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,576,911 (GRCm39) |
E1055G |
probably damaging |
Het |
| Tas2r140 |
A |
G |
6: 40,469,036 (GRCm39) |
I289V |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,101 (GRCm39) |
V541A |
probably benign |
Het |
| Tll2 |
C |
T |
19: 41,119,084 (GRCm39) |
V215M |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,687,874 (GRCm39) |
N98K |
probably benign |
Het |
| Trav9n-4 |
C |
A |
14: 53,532,290 (GRCm39) |
A48E |
probably benign |
Het |
| Vinac1 |
A |
T |
2: 128,880,499 (GRCm39) |
S476T |
|
Het |
| Vmn1r192 |
A |
G |
13: 22,372,010 (GRCm39) |
F70S |
probably damaging |
Het |
| Wdr89 |
A |
G |
12: 75,680,026 (GRCm39) |
V76A |
probably damaging |
Het |
| Zfp229 |
A |
T |
17: 21,965,275 (GRCm39) |
T502S |
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 |
|
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 |
|
R9783:Dennd5b
|
UTSW |
6 |
148,911,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGAGGAATTTCTTGCAGGCTTG -3'
(R):5'- CATTTCTCCACAGCTGTGCATG -3'
Sequencing Primer
(F):5'- CTTGCATGAAAGGCAGAGGTGTG -3'
(R):5'- AGGGCTGTCTTTCAGAACAC -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation