Incidental Mutation 'IGL01124:Dennd4b'
| ID |
50769 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dennd4b
|
| Ensembl Gene |
ENSMUSG00000042404 |
| Gene Name |
DENN domain containing 4B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
IGL01124
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
90172492-90187976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 90176381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 243
(T243S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117354
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029545]
[ENSMUST00000098914]
[ENSMUST00000129564]
[ENSMUST00000184882]
|
| AlphaFold |
Q3U1Y4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029545
|
| SMART Domains |
Protein: ENSMUSP00000029545
Gene: ENSMUSG00000027936
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TORC_N
|
18 |
72 |
1.8e-20 |
PFAM |
|
low complexity region
|
127 |
141 |
N/A |
INTRINSIC |
|
Pfam:TORC_M
|
168 |
323 |
3.7e-71 |
PFAM |
|
low complexity region
|
335 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
391 |
416 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
439 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
494 |
N/A |
INTRINSIC |
|
low complexity region
|
517 |
528 |
N/A |
INTRINSIC |
|
Pfam:TORC_C
|
614 |
691 |
4.3e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098914
AA Change: T254S
PolyPhen 2
Score 0.288 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: T254S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
43 |
57 |
N/A |
INTRINSIC |
|
uDENN
|
183 |
290 |
1.15e-29 |
SMART |
|
DENN
|
324 |
508 |
5.26e-70 |
SMART |
|
dDENN
|
573 |
647 |
1.75e-25 |
SMART |
|
low complexity region
|
672 |
690 |
N/A |
INTRINSIC |
|
low complexity region
|
740 |
752 |
N/A |
INTRINSIC |
|
coiled coil region
|
902 |
928 |
N/A |
INTRINSIC |
|
low complexity region
|
1022 |
1038 |
N/A |
INTRINSIC |
|
low complexity region
|
1086 |
1096 |
N/A |
INTRINSIC |
|
low complexity region
|
1114 |
1127 |
N/A |
INTRINSIC |
|
low complexity region
|
1131 |
1148 |
N/A |
INTRINSIC |
|
low complexity region
|
1338 |
1350 |
N/A |
INTRINSIC |
|
low complexity region
|
1424 |
1439 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129564
AA Change: T243S
PolyPhen 2
Score 0.606 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: T243S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
46 |
N/A |
INTRINSIC |
|
uDENN
|
172 |
279 |
1.15e-29 |
SMART |
|
DENN
|
313 |
497 |
5.26e-70 |
SMART |
|
dDENN
|
562 |
636 |
1.75e-25 |
SMART |
|
low complexity region
|
661 |
679 |
N/A |
INTRINSIC |
|
low complexity region
|
729 |
741 |
N/A |
INTRINSIC |
|
coiled coil region
|
891 |
917 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1027 |
N/A |
INTRINSIC |
|
low complexity region
|
1075 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1103 |
1116 |
N/A |
INTRINSIC |
|
low complexity region
|
1120 |
1137 |
N/A |
INTRINSIC |
|
low complexity region
|
1327 |
1339 |
N/A |
INTRINSIC |
|
low complexity region
|
1413 |
1428 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130002
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136970
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149422
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000151648
AA Change: T20S
|
| SMART Domains |
Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404
AA Change: T20S
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
2 |
57 |
3.71e-6 |
SMART |
|
Pfam:DENN
|
91 |
157 |
2.9e-13 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183900
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000184882
|
| SMART Domains |
Protein: ENSMUSP00000139194
Gene: ENSMUSG00000027936
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:TORC_M
|
83 |
239 |
6.5e-65 |
PFAM |
|
low complexity region
|
250 |
299 |
N/A |
INTRINSIC |
|
low complexity region
|
306 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
409 |
N/A |
INTRINSIC |
|
low complexity region
|
432 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156358
|
| SMART Domains |
Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
24 |
38 |
N/A |
INTRINSIC |
|
Blast:uDENN
|
39 |
97 |
9e-6 |
BLAST |
|
Blast:uDENN
|
164 |
207 |
1e-22 |
BLAST |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ascc3 |
T |
C |
10: 50,608,569 (GRCm39) |
I1477T |
probably damaging |
Het |
| Baat |
A |
G |
4: 49,490,391 (GRCm39) |
I231T |
possibly damaging |
Het |
| Cactin |
T |
C |
10: 81,160,184 (GRCm39) |
S426P |
possibly damaging |
Het |
| Cfh |
A |
T |
1: 140,110,999 (GRCm39) |
F6I |
probably benign |
Het |
| Clec4a2 |
C |
T |
6: 123,116,037 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
G |
9: 79,611,129 (GRCm39) |
S148P |
probably damaging |
Het |
| Cubn |
G |
T |
2: 13,482,904 (GRCm39) |
Q281K |
possibly damaging |
Het |
| Cyp2c65 |
T |
A |
19: 39,081,954 (GRCm39) |
|
probably benign |
Het |
| Epha8 |
C |
T |
4: 136,663,394 (GRCm39) |
G518D |
probably damaging |
Het |
| Fmo3 |
G |
A |
1: 162,785,830 (GRCm39) |
R387C |
probably damaging |
Het |
| Foxo6 |
T |
C |
4: 120,126,349 (GRCm39) |
T149A |
probably benign |
Het |
| Fthl17d |
T |
C |
X: 8,852,827 (GRCm39) |
E3G |
probably benign |
Het |
| Gm10521 |
A |
G |
1: 171,724,010 (GRCm39) |
Y107C |
unknown |
Het |
| Ipo8 |
T |
A |
6: 148,678,874 (GRCm39) |
E908V |
probably benign |
Het |
| Kcnd2 |
T |
C |
6: 21,217,216 (GRCm39) |
S307P |
probably damaging |
Het |
| Klf3 |
A |
G |
5: 64,974,123 (GRCm39) |
M3V |
possibly damaging |
Het |
| Ldb3 |
T |
A |
14: 34,266,157 (GRCm39) |
E417D |
probably damaging |
Het |
| Lrch1 |
A |
T |
14: 74,994,503 (GRCm39) |
D673E |
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,474,087 (GRCm39) |
K865E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,589,104 (GRCm39) |
V754I |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,692,219 (GRCm39) |
N223D |
probably benign |
Het |
| Nell2 |
G |
A |
15: 95,194,060 (GRCm39) |
T551M |
probably damaging |
Het |
| Nup155 |
T |
A |
15: 8,183,163 (GRCm39) |
M1241K |
probably damaging |
Het |
| Or2t49 |
A |
T |
11: 58,393,020 (GRCm39) |
S121T |
possibly damaging |
Het |
| Or5i1 |
T |
C |
2: 87,613,720 (GRCm39) |
F279L |
probably benign |
Het |
| Orc1 |
T |
C |
4: 108,445,984 (GRCm39) |
|
probably benign |
Het |
| Pclo |
T |
C |
5: 14,764,343 (GRCm39) |
I4272T |
unknown |
Het |
| Ppp1r12c |
A |
G |
7: 4,500,344 (GRCm39) |
|
probably benign |
Het |
| Prcp |
A |
G |
7: 92,559,416 (GRCm39) |
E160G |
probably benign |
Het |
| Prl3d3 |
G |
A |
13: 27,343,090 (GRCm39) |
R92Q |
possibly damaging |
Het |
| Prl6a1 |
T |
A |
13: 27,500,347 (GRCm39) |
M106K |
possibly damaging |
Het |
| Slc22a1 |
T |
A |
17: 12,869,749 (GRCm39) |
|
probably benign |
Het |
| Slco3a1 |
A |
G |
7: 73,934,295 (GRCm39) |
Y626H |
probably damaging |
Het |
| Smtn |
A |
G |
11: 3,476,326 (GRCm39) |
|
probably null |
Het |
| Snx30 |
T |
C |
4: 59,886,404 (GRCm39) |
|
probably benign |
Het |
| Spock2 |
A |
G |
10: 59,967,209 (GRCm39) |
D393G |
unknown |
Het |
| Trem3 |
T |
G |
17: 48,556,829 (GRCm39) |
L100R |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,781,659 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,745,386 (GRCm39) |
M901V |
probably benign |
Het |
| Usp28 |
T |
A |
9: 48,948,513 (GRCm39) |
S873T |
probably damaging |
Het |
| Vmn1r86 |
T |
C |
7: 12,836,856 (GRCm39) |
I7V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,338,959 (GRCm39) |
L400P |
probably damaging |
Het |
|
| Other mutations in Dennd4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Dennd4b
|
APN |
3 |
90,178,514 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL00834:Dennd4b
|
APN |
3 |
90,186,993 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01792:Dennd4b
|
APN |
3 |
90,187,152 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL01895:Dennd4b
|
APN |
3 |
90,182,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02533:Dennd4b
|
APN |
3 |
90,179,617 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02630:Dennd4b
|
APN |
3 |
90,180,284 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0107:Dennd4b
|
UTSW |
3 |
90,180,043 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0143:Dennd4b
|
UTSW |
3 |
90,179,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1079:Dennd4b
|
UTSW |
3 |
90,178,485 (GRCm39) |
missense |
probably benign |
|
|
R1306:Dennd4b
|
UTSW |
3 |
90,178,472 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1525:Dennd4b
|
UTSW |
3 |
90,178,177 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1756:Dennd4b
|
UTSW |
3 |
90,178,912 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1959:Dennd4b
|
UTSW |
3 |
90,176,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1976:Dennd4b
|
UTSW |
3 |
90,180,362 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2184:Dennd4b
|
UTSW |
3 |
90,182,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2296:Dennd4b
|
UTSW |
3 |
90,182,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2406:Dennd4b
|
UTSW |
3 |
90,182,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2408:Dennd4b
|
UTSW |
3 |
90,178,882 (GRCm39) |
nonsense |
probably null |
|
|
R4691:Dennd4b
|
UTSW |
3 |
90,179,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5376:Dennd4b
|
UTSW |
3 |
90,185,363 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5466:Dennd4b
|
UTSW |
3 |
90,175,807 (GRCm39) |
splice site |
probably null |
|
|
R5555:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5556:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5557:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5605:Dennd4b
|
UTSW |
3 |
90,175,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5617:Dennd4b
|
UTSW |
3 |
90,182,933 (GRCm39) |
missense |
probably benign |
|
|
R5692:Dennd4b
|
UTSW |
3 |
90,185,090 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Dennd4b
|
UTSW |
3 |
90,184,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5957:Dennd4b
|
UTSW |
3 |
90,178,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6130:Dennd4b
|
UTSW |
3 |
90,183,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Dennd4b
|
UTSW |
3 |
90,182,875 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R6505:Dennd4b
|
UTSW |
3 |
90,174,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6631:Dennd4b
|
UTSW |
3 |
90,185,039 (GRCm39) |
splice site |
probably null |
|
|
R6801:Dennd4b
|
UTSW |
3 |
90,176,086 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7409:Dennd4b
|
UTSW |
3 |
90,181,259 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7457:Dennd4b
|
UTSW |
3 |
90,176,622 (GRCm39) |
missense |
probably benign |
|
|
R7650:Dennd4b
|
UTSW |
3 |
90,176,056 (GRCm39) |
nonsense |
probably null |
|
|
R8196:Dennd4b
|
UTSW |
3 |
90,178,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8208:Dennd4b
|
UTSW |
3 |
90,178,278 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8444:Dennd4b
|
UTSW |
3 |
90,181,259 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8502:Dennd4b
|
UTSW |
3 |
90,181,165 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8735:Dennd4b
|
UTSW |
3 |
90,185,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8933:Dennd4b
|
UTSW |
3 |
90,186,523 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9031:Dennd4b
|
UTSW |
3 |
90,178,188 (GRCm39) |
missense |
probably benign |
|
|
R9335:Dennd4b
|
UTSW |
3 |
90,175,611 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9456:Dennd4b
|
UTSW |
3 |
90,178,515 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Dennd4b
|
UTSW |
3 |
90,177,828 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
X0024:Dennd4b
|
UTSW |
3 |
90,178,278 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
Z1176:Dennd4b
|
UTSW |
3 |
90,186,802 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-06-21 |
Incidental Mutation