Incidental Mutation 'R6801:Dennd4b'
| ID |
533330 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd4b
|
| Ensembl Gene |
ENSMUSG00000042404 |
| Gene Name |
DENN domain containing 4B |
| Synonyms |
|
| MMRRC Submission |
044914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.162)
|
| Stock # |
R6801 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
90172492-90187976 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90176086 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 201
(V201E)
|
| 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 damaging
Transcript: ENSMUST00000098914
AA Change: V212E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000096514
Gene: ENSMUSG00000042404
AA Change: V212E
| 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 |
probably damaging
Transcript: ENSMUST00000129564
AA Change: V201E
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117354
Gene: ENSMUSG00000042404
AA Change: V201E
| 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 |
probably benign
Transcript: ENSMUST00000151648
|
| SMART Domains |
Protein: ENSMUSP00000121350
Gene: ENSMUSG00000042404
| Domain | Start | End | E-Value | Type |
|---|
|
uDENN
|
2 |
57 |
3.71e-6 |
SMART |
|
Pfam:DENN
|
91 |
157 |
2.9e-13 |
PFAM |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118483
Gene: ENSMUSG00000042404
AA Change: V192E
| 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,174,680 (GRCm39) |
Y695F |
possibly damaging |
Het |
| Arhgap20 |
A |
G |
9: 51,759,892 (GRCm39) |
D545G |
probably damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,643,159 (GRCm39) |
E1457G |
possibly damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,655,524 (GRCm39) |
I747F |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,609,133 (GRCm39) |
I98L |
probably benign |
Het |
| C2cd6 |
TC |
T |
1: 59,133,742 (GRCm39) |
|
probably null |
Het |
| Ccdc90b |
A |
G |
7: 92,216,943 (GRCm39) |
T72A |
probably benign |
Het |
| Chrd |
A |
G |
16: 20,554,497 (GRCm39) |
E352G |
possibly damaging |
Het |
| Csmd2 |
A |
G |
4: 128,277,743 (GRCm39) |
E953G |
probably benign |
Het |
| Dchs2 |
T |
A |
3: 83,035,841 (GRCm39) |
M196K |
probably benign |
Het |
| Ddx10 |
G |
A |
9: 53,159,207 (GRCm39) |
Q33* |
probably null |
Het |
| Fbn2 |
T |
A |
18: 58,246,420 (GRCm39) |
H494L |
probably benign |
Het |
| Fbxw13 |
G |
A |
9: 109,023,795 (GRCm39) |
A83V |
probably null |
Het |
| Fxr1 |
A |
G |
3: 34,108,452 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galm |
A |
G |
17: 80,489,053 (GRCm39) |
H233R |
probably benign |
Het |
| Gm7298 |
A |
G |
6: 121,752,768 (GRCm39) |
T837A |
probably benign |
Het |
| Gmppa |
C |
G |
1: 75,418,391 (GRCm39) |
S258C |
possibly damaging |
Het |
| Hk1 |
T |
G |
10: 62,116,910 (GRCm39) |
E645A |
probably damaging |
Het |
| Igkv1-132 |
A |
G |
6: 67,737,324 (GRCm39) |
T97A |
probably damaging |
Het |
| Kcnc1 |
T |
C |
7: 46,084,716 (GRCm39) |
F547L |
probably damaging |
Het |
| Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
| Lingo2 |
T |
A |
4: 35,709,566 (GRCm39) |
E138V |
probably damaging |
Het |
| Myb |
T |
C |
10: 21,020,865 (GRCm39) |
|
probably null |
Het |
| Mybl1 |
A |
G |
1: 9,753,353 (GRCm39) |
V243A |
probably benign |
Het |
| Mylk4 |
C |
T |
13: 32,912,393 (GRCm39) |
S189N |
probably benign |
Het |
| Or13c7 |
T |
A |
4: 43,855,206 (GRCm39) |
L299* |
probably null |
Het |
| Or2y16 |
A |
G |
11: 49,335,169 (GRCm39) |
M164V |
probably benign |
Het |
| Or4k77 |
A |
T |
2: 111,199,394 (GRCm39) |
Q139L |
probably benign |
Het |
| Or4x12-ps1 |
A |
T |
2: 89,915,953 (GRCm39) |
I284N |
probably damaging |
Het |
| Or5w1b |
A |
G |
2: 87,475,667 (GRCm39) |
Y267H |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,055,506 (GRCm39) |
I37F |
probably benign |
Het |
| Oxld1 |
A |
T |
11: 120,347,650 (GRCm39) |
D182E |
probably damaging |
Het |
| Phf13 |
A |
T |
4: 152,076,017 (GRCm39) |
L295Q |
probably damaging |
Het |
| Prrc2c |
TTGCTGCTGCTGCTGCTGCTGCTGCTGC |
TTGCTGCTGCTGCTGCTGCTGCTGC |
1: 162,536,630 (GRCm39) |
|
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,813 (GRCm39) |
L88P |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,438,448 (GRCm39) |
Y596C |
probably damaging |
Het |
| Rftn2 |
A |
G |
1: 55,233,418 (GRCm39) |
I379T |
possibly damaging |
Het |
| Rnf214 |
C |
T |
9: 45,807,403 (GRCm39) |
E267K |
probably damaging |
Het |
| Rpp14 |
T |
C |
14: 8,083,717 (GRCm38) |
|
probably benign |
Het |
| Rpusd2 |
A |
G |
2: 118,865,876 (GRCm39) |
Y191C |
probably damaging |
Het |
| Serpinb9c |
T |
A |
13: 33,341,807 (GRCm39) |
M1L |
probably benign |
Het |
| Shroom3 |
A |
G |
5: 93,088,795 (GRCm39) |
D434G |
probably damaging |
Het |
| Smc5 |
G |
A |
19: 23,192,010 (GRCm39) |
S888L |
probably benign |
Het |
| Suv39h2 |
C |
T |
2: 3,465,458 (GRCm39) |
R299K |
probably benign |
Het |
| Trappc4 |
A |
T |
9: 44,315,685 (GRCm39) |
I176N |
probably damaging |
Het |
| Trim12c |
A |
T |
7: 103,997,337 (GRCm39) |
V73E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly 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 |
|
|
IGL01124:Dennd4b
|
APN |
3 |
90,176,381 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATTGACACCAGGCCAGATC -3'
(R):5'- CTCTATACCCCAGCAGGATTAAGAG -3'
Sequencing Primer
(F):5'- CCAGATCAGAAGTGACTTGGTG -3'
(R):5'- GCAGGATTAAGAGTACATATTAGAGC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation