Incidental Mutation 'R1525:Dennd4b'
ID |
167767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dennd4b
|
Ensembl Gene |
ENSMUSG00000042404 |
Gene Name |
DENN domain containing 4B |
Synonyms |
|
MMRRC Submission |
040872-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.162)
|
Stock # |
R1525 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
90172492-90187976 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 90178177 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 456
(L456F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117354
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098914]
[ENSMUST00000129564]
|
AlphaFold |
Q3U1Y4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098914
AA Change: L467F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096514 Gene: ENSMUSG00000042404 AA Change: L467F
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: L456F
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000117354 Gene: ENSMUSG00000042404 AA Change: L456F
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 |
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
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc3 |
A |
T |
11: 94,252,062 (GRCm39) |
H840Q |
probably benign |
Het |
Amotl2 |
C |
T |
9: 102,605,767 (GRCm39) |
R540C |
probably damaging |
Het |
Brpf1 |
A |
G |
6: 113,294,115 (GRCm39) |
E605G |
probably damaging |
Het |
Cacna2d3 |
T |
C |
14: 28,694,199 (GRCm39) |
I865V |
probably benign |
Het |
Cdh24 |
A |
T |
14: 54,876,046 (GRCm39) |
F199I |
probably damaging |
Het |
Cdk9 |
A |
G |
2: 32,600,521 (GRCm39) |
V27A |
probably damaging |
Het |
Cfap69 |
G |
T |
5: 5,690,230 (GRCm39) |
|
probably null |
Het |
Cyp2d11 |
G |
T |
15: 82,273,498 (GRCm39) |
L458I |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,408,138 (GRCm39) |
E1898G |
probably damaging |
Het |
Dgat1 |
T |
C |
15: 76,395,786 (GRCm39) |
T66A |
probably benign |
Het |
Dock10 |
C |
A |
1: 80,583,881 (GRCm39) |
|
probably null |
Het |
Fam110b |
A |
G |
4: 5,799,578 (GRCm39) |
D332G |
possibly damaging |
Het |
Fem1al |
A |
C |
11: 29,773,994 (GRCm39) |
Y488D |
probably benign |
Het |
Frmd4b |
G |
A |
6: 97,273,347 (GRCm39) |
P628S |
probably damaging |
Het |
Ice1 |
A |
T |
13: 70,753,529 (GRCm39) |
H852Q |
probably benign |
Het |
Il17ra |
T |
C |
6: 120,450,751 (GRCm39) |
V116A |
probably damaging |
Het |
Ints9 |
T |
C |
14: 65,232,460 (GRCm39) |
I173T |
probably benign |
Het |
Kctd14 |
A |
T |
7: 97,107,074 (GRCm39) |
M110L |
probably benign |
Het |
Krt6a |
T |
G |
15: 101,602,637 (GRCm39) |
Y16S |
probably benign |
Het |
Lamc2 |
T |
C |
1: 153,006,502 (GRCm39) |
N883S |
probably benign |
Het |
Larp4b |
C |
T |
13: 9,195,486 (GRCm39) |
T195M |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,375,398 (GRCm39) |
L4432P |
probably damaging |
Het |
Mei4 |
T |
C |
9: 81,772,252 (GRCm39) |
S22P |
probably damaging |
Het |
Mep1a |
T |
C |
17: 43,802,527 (GRCm39) |
Q166R |
probably damaging |
Het |
Mroh2b |
C |
A |
15: 4,980,612 (GRCm39) |
|
probably null |
Het |
Myoc |
T |
G |
1: 162,476,220 (GRCm39) |
L308R |
probably damaging |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Or1j21 |
A |
T |
2: 36,684,155 (GRCm39) |
R302S |
probably null |
Het |
Or2t6 |
T |
A |
14: 14,175,725 (GRCm38) |
Y119F |
probably damaging |
Het |
Or4c101 |
C |
G |
2: 88,389,985 (GRCm39) |
S57R |
probably damaging |
Het |
Pdilt |
T |
A |
7: 119,087,217 (GRCm39) |
T478S |
probably damaging |
Het |
Pias1 |
T |
C |
9: 62,827,769 (GRCm39) |
K222E |
probably damaging |
Het |
Prss16 |
A |
C |
13: 22,193,613 (GRCm39) |
L61V |
possibly damaging |
Het |
Pttg1ip2 |
C |
A |
5: 5,502,019 (GRCm39) |
W144C |
probably benign |
Het |
Pvr |
G |
A |
7: 19,644,551 (GRCm39) |
Q328* |
probably null |
Het |
Ranbp3 |
A |
G |
17: 57,017,865 (GRCm39) |
D481G |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
G |
T |
2: 112,508,435 (GRCm39) |
D3419E |
probably damaging |
Het |
Scn1a |
C |
T |
2: 66,149,806 (GRCm39) |
W946* |
probably null |
Het |
Sh3pxd2a |
T |
C |
19: 47,266,864 (GRCm39) |
K242E |
probably damaging |
Het |
Slc34a2 |
A |
G |
5: 53,226,848 (GRCm39) |
D657G |
probably benign |
Het |
Stard9 |
T |
A |
2: 120,532,533 (GRCm39) |
I2930K |
probably benign |
Het |
Syna |
T |
C |
5: 134,588,112 (GRCm39) |
D279G |
probably benign |
Het |
Tfr2 |
T |
C |
5: 137,577,292 (GRCm39) |
F415L |
probably benign |
Het |
Tmem97 |
T |
A |
11: 78,433,586 (GRCm39) |
Y103F |
probably damaging |
Het |
Tmem97 |
A |
T |
11: 78,433,587 (GRCm39) |
Y103N |
probably damaging |
Het |
Txndc2 |
T |
A |
17: 65,945,310 (GRCm39) |
D289V |
probably damaging |
Het |
Zbtb1 |
T |
G |
12: 76,433,206 (GRCm39) |
D397E |
probably benign |
Het |
Zc3h18 |
T |
C |
8: 123,140,677 (GRCm39) |
S847P |
probably benign |
Het |
Zfp382 |
G |
A |
7: 29,833,144 (GRCm39) |
G265E |
probably damaging |
Het |
Zfp410 |
T |
C |
12: 84,369,740 (GRCm39) |
L39S |
probably damaging |
Het |
Zfp729a |
G |
T |
13: 67,767,440 (GRCm39) |
P930T |
probably benign |
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 |
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'- AGCACAAACTGCTGGTCCACTC -3'
(R):5'- AGCCCTCAGATGGTACTTAGCCTC -3'
Sequencing Primer
(F):5'- CTCAGTGAGTGTCACATTATCTAGTC -3'
(R):5'- GTACTTAGCCTCTTACTGGAAGAGC -3'
|
Posted On |
2014-04-13 |