Incidental Mutation 'R0107:Dennd4b'
ID |
33311 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd4b
|
Ensembl Gene |
ENSMUSG00000042404 |
Gene Name |
DENN domain containing 4B |
Synonyms |
|
MMRRC Submission |
038393-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R0107 (G1)
|
Quality Score |
211 |
Status
|
Validated
(trace)
|
Chromosome |
3 |
Chromosomal Location |
90172492-90187976 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 90180043 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Threonine
at position 663
(P663T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098914]
[ENSMUST00000129564]
|
AlphaFold |
Q3U1Y4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098914
AA Change: P674T
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096514 Gene: ENSMUSG00000042404 AA Change: P674T
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: P663T
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000117354 Gene: ENSMUSG00000042404 AA Change: P663T
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: ENSMUST00000138376
|
SMART Domains |
Protein: ENSMUSP00000116003 Gene: ENSMUSG00000042404
Domain | Start | End | E-Value | Type |
coiled coil region
|
29 |
55 |
N/A |
INTRINSIC |
low complexity region
|
148 |
164 |
N/A |
INTRINSIC |
low complexity region
|
212 |
222 |
N/A |
INTRINSIC |
low complexity region
|
240 |
253 |
N/A |
INTRINSIC |
low complexity region
|
257 |
264 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143803
|
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 |
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183900
|
Meta Mutation Damage Score |
0.1031 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 90.6%
|
Validation Efficiency |
99% (71/72) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
A |
3: 59,659,737 (GRCm39) |
L397I |
possibly damaging |
Het |
Abca1 |
A |
G |
4: 53,080,834 (GRCm39) |
V825A |
probably benign |
Het |
Adamts7 |
T |
C |
9: 90,062,773 (GRCm39) |
I409T |
possibly damaging |
Het |
Adck1 |
T |
C |
12: 88,413,426 (GRCm39) |
W253R |
possibly damaging |
Het |
Afg3l2 |
A |
G |
18: 67,564,836 (GRCm39) |
F213L |
probably damaging |
Het |
Ankle2 |
T |
C |
5: 110,400,893 (GRCm39) |
V743A |
probably benign |
Het |
Ankrd34c |
C |
T |
9: 89,611,537 (GRCm39) |
R268H |
probably benign |
Het |
Arb2a |
A |
G |
13: 78,050,933 (GRCm39) |
D145G |
probably damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Ccdc7b |
T |
G |
8: 129,904,678 (GRCm39) |
|
probably benign |
Het |
Cd320 |
A |
T |
17: 34,067,059 (GRCm39) |
M169L |
probably benign |
Het |
Chn1 |
A |
G |
2: 73,445,028 (GRCm39) |
Y338H |
probably damaging |
Het |
Chuk |
T |
A |
19: 44,085,358 (GRCm39) |
S263C |
probably damaging |
Het |
Dnajc24 |
T |
G |
2: 105,832,259 (GRCm39) |
|
probably benign |
Het |
Fbn2 |
A |
G |
18: 58,189,275 (GRCm39) |
V1617A |
probably benign |
Het |
Fermt2 |
T |
C |
14: 45,702,279 (GRCm39) |
N502D |
probably damaging |
Het |
Frrs1 |
A |
T |
3: 116,690,365 (GRCm39) |
I3F |
probably damaging |
Het |
Fut1 |
C |
A |
7: 45,268,270 (GRCm39) |
Q20K |
possibly damaging |
Het |
Gbf1 |
T |
C |
19: 46,273,267 (GRCm39) |
V1709A |
probably benign |
Het |
Gfra3 |
G |
T |
18: 34,844,359 (GRCm39) |
H60Q |
probably benign |
Het |
Gm10750 |
T |
A |
2: 148,857,973 (GRCm39) |
M93L |
unknown |
Het |
Hmcn1 |
T |
A |
1: 150,462,766 (GRCm39) |
I5124L |
probably benign |
Het |
Hps3 |
A |
C |
3: 20,084,960 (GRCm39) |
L76R |
probably damaging |
Het |
Ifrd1 |
T |
A |
12: 40,264,080 (GRCm39) |
Q105L |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,054,691 (GRCm39) |
V1247E |
probably damaging |
Het |
Itgal |
T |
C |
7: 126,927,731 (GRCm39) |
|
probably benign |
Het |
Ivns1abp |
A |
T |
1: 151,237,321 (GRCm39) |
N495I |
probably damaging |
Het |
Kank1 |
T |
A |
19: 25,407,730 (GRCm39) |
|
probably benign |
Het |
Mroh8 |
T |
C |
2: 157,067,388 (GRCm39) |
Q657R |
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,991,838 (GRCm39) |
Y597H |
probably benign |
Het |
Myom1 |
G |
A |
17: 71,384,360 (GRCm39) |
V692I |
probably damaging |
Het |
Or13a17 |
A |
T |
7: 140,271,258 (GRCm39) |
M147L |
probably benign |
Het |
Or1j18 |
T |
G |
2: 36,624,730 (GRCm39) |
Y132* |
probably null |
Het |
Or7g20 |
A |
G |
9: 18,946,629 (GRCm39) |
D70G |
probably damaging |
Het |
Palmd |
A |
T |
3: 116,717,725 (GRCm39) |
H257Q |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,480,325 (GRCm39) |
V1994D |
probably benign |
Het |
Phkb |
G |
A |
8: 86,743,560 (GRCm39) |
G553S |
probably benign |
Het |
Plekha5 |
G |
A |
6: 140,537,473 (GRCm39) |
R646K |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,232,356 (GRCm39) |
L453M |
probably damaging |
Het |
Ptprz1 |
T |
A |
6: 23,000,569 (GRCm39) |
D886E |
probably damaging |
Het |
Rcn1 |
T |
A |
2: 105,225,126 (GRCm39) |
I110F |
possibly damaging |
Het |
Scn1a |
T |
A |
2: 66,154,977 (GRCm39) |
T661S |
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,832,176 (GRCm39) |
Y467H |
possibly damaging |
Het |
Slc9c1 |
T |
A |
16: 45,395,783 (GRCm39) |
D611E |
probably benign |
Het |
Slitrk6 |
T |
C |
14: 110,989,395 (GRCm39) |
E104G |
possibly damaging |
Het |
Spag17 |
A |
T |
3: 99,958,103 (GRCm39) |
K920N |
possibly damaging |
Het |
St3gal5 |
A |
G |
6: 72,119,133 (GRCm39) |
S82G |
probably benign |
Het |
Tlk1 |
T |
C |
2: 70,544,333 (GRCm39) |
*767W |
probably null |
Het |
Tln2 |
A |
G |
9: 67,277,988 (GRCm39) |
V342A |
probably damaging |
Het |
Tmem104 |
T |
A |
11: 115,093,006 (GRCm39) |
M132K |
probably damaging |
Het |
Tmem184c |
A |
G |
8: 78,323,702 (GRCm39) |
S387P |
possibly damaging |
Het |
Tmtc1 |
A |
G |
6: 148,327,411 (GRCm39) |
V34A |
possibly damaging |
Het |
Trim46 |
A |
G |
3: 89,143,640 (GRCm39) |
F596S |
probably damaging |
Het |
Unc79 |
T |
A |
12: 103,100,784 (GRCm39) |
D1870E |
possibly damaging |
Het |
Utp20 |
T |
C |
10: 88,614,253 (GRCm39) |
T1234A |
probably benign |
Het |
Vmn1r31 |
T |
A |
6: 58,449,728 (GRCm39) |
T46S |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,669,188 (GRCm39) |
L1341Q |
probably benign |
Het |
Wdr72 |
A |
T |
9: 74,117,715 (GRCm39) |
D821V |
probably damaging |
Het |
Zfhx4 |
T |
C |
3: 5,464,042 (GRCm39) |
L1400P |
probably damaging |
Het |
Zfp217 |
T |
A |
2: 169,956,794 (GRCm39) |
K735* |
probably null |
Het |
Zfp235 |
A |
G |
7: 23,836,541 (GRCm39) |
Q29R |
probably damaging |
Het |
Zfp628 |
A |
G |
7: 4,923,167 (GRCm39) |
Y463C |
probably damaging |
Het |
Zkscan4 |
A |
G |
13: 21,668,751 (GRCm39) |
T401A |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGACAGCATTGGCTGGAATCAGG -3'
(R):5'- AGCTAAGCGTTGGACATTGGGG -3'
Sequencing Primer
(F):5'- GTGCAGCCATACATGGTTC -3'
(R):5'- GCAGGATGATAGAAGACCCTCTTAC -3'
|
Posted On |
2013-05-09 |