Incidental Mutation 'IGL03109:Dennd6b'
ID |
419137 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Dennd6b
|
Ensembl Gene |
ENSMUSG00000015377 |
Gene Name |
DENN domain containing 6B |
Synonyms |
Fam116b, 1700027J05Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.142)
|
Stock # |
IGL03109
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
89066416-89080699 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
T to C
at 89069188 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155612
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078953]
[ENSMUST00000109331]
[ENSMUST00000229755]
|
AlphaFold |
Q9D9V7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000078953
|
SMART Domains |
Protein: ENSMUSP00000077978 Gene: ENSMUSG00000015377
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
31 |
N/A |
INTRINSIC |
Pfam:Avl9
|
42 |
181 |
1.1e-8 |
PFAM |
Pfam:DENN
|
148 |
344 |
1.2e-8 |
PFAM |
Pfam:SPA
|
248 |
358 |
6.7e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109331
|
SMART Domains |
Protein: ENSMUSP00000104955 Gene: ENSMUSG00000036606
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
Sema
|
34 |
452 |
8.87e-92 |
SMART |
PSI
|
470 |
521 |
1.94e-10 |
SMART |
PSI
|
616 |
669 |
4.09e-1 |
SMART |
PSI
|
761 |
804 |
7.02e-8 |
SMART |
IPT
|
805 |
896 |
8.14e-19 |
SMART |
IPT
|
897 |
983 |
1.1e-15 |
SMART |
IPT
|
985 |
1096 |
5.06e-6 |
SMART |
Pfam:Plexin_cytopl
|
1274 |
1809 |
4.4e-251 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184207
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229416
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229755
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229935
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230111
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230823
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
A |
T |
17: 48,473,628 (GRCm39) |
S96R |
probably benign |
Het |
Abca6 |
T |
A |
11: 110,071,173 (GRCm39) |
H1506L |
probably damaging |
Het |
Adgrg1 |
T |
A |
8: 95,734,304 (GRCm39) |
|
probably benign |
Het |
Ahi1 |
A |
G |
10: 20,846,841 (GRCm39) |
T424A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,886,329 (GRCm39) |
S552R |
possibly damaging |
Het |
Bptf |
T |
C |
11: 106,952,527 (GRCm39) |
T2172A |
possibly damaging |
Het |
Commd9 |
T |
C |
2: 101,727,515 (GRCm39) |
V103A |
probably benign |
Het |
Ctnnal1 |
T |
A |
4: 56,839,045 (GRCm39) |
D216V |
probably damaging |
Het |
Dcbld2 |
A |
G |
16: 58,276,765 (GRCm39) |
T519A |
probably benign |
Het |
Dnah10 |
A |
G |
5: 124,841,950 (GRCm39) |
T1369A |
probably benign |
Het |
Ect2 |
T |
C |
3: 27,199,121 (GRCm39) |
T222A |
possibly damaging |
Het |
Eef2k |
G |
A |
7: 120,490,949 (GRCm39) |
G523E |
probably damaging |
Het |
Ephb2 |
T |
G |
4: 136,498,855 (GRCm39) |
T75P |
probably damaging |
Het |
Exo1 |
A |
T |
1: 175,727,126 (GRCm39) |
N479I |
probably damaging |
Het |
Fign |
A |
G |
2: 63,811,006 (GRCm39) |
L88P |
possibly damaging |
Het |
Golgb1 |
T |
A |
16: 36,735,973 (GRCm39) |
V1740E |
possibly damaging |
Het |
Icos |
A |
G |
1: 61,036,856 (GRCm39) |
|
probably benign |
Het |
Il6ra |
C |
A |
3: 89,784,165 (GRCm39) |
G369* |
probably null |
Het |
Itpr1 |
A |
G |
6: 108,394,942 (GRCm39) |
D83G |
probably damaging |
Het |
Kdm2a |
A |
G |
19: 4,379,135 (GRCm39) |
I560T |
probably benign |
Het |
Lrp1 |
C |
T |
10: 127,402,514 (GRCm39) |
R2219H |
probably benign |
Het |
Mical3 |
A |
T |
6: 120,986,085 (GRCm39) |
C119S |
probably damaging |
Het |
Mipol1 |
G |
A |
12: 57,411,010 (GRCm39) |
R267H |
probably benign |
Het |
Myrip |
A |
T |
9: 120,282,790 (GRCm39) |
|
probably null |
Het |
Nelfb |
G |
A |
2: 25,091,073 (GRCm39) |
L542F |
possibly damaging |
Het |
Nlrp4b |
T |
C |
7: 10,448,873 (GRCm39) |
C359R |
probably damaging |
Het |
Noxred1 |
T |
A |
12: 87,280,212 (GRCm39) |
H40L |
probably damaging |
Het |
Nphp1 |
A |
T |
2: 127,610,089 (GRCm39) |
|
probably benign |
Het |
Or14j8 |
C |
T |
17: 38,263,378 (GRCm39) |
C179Y |
probably damaging |
Het |
Pank3 |
T |
A |
11: 35,668,501 (GRCm39) |
F163L |
probably benign |
Het |
Pde10a |
T |
C |
17: 9,148,046 (GRCm39) |
|
probably null |
Het |
Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
Rfc3 |
A |
G |
5: 151,566,559 (GRCm39) |
S297P |
probably benign |
Het |
Serinc1 |
A |
T |
10: 57,399,165 (GRCm39) |
M246K |
probably benign |
Het |
Slc5a8 |
C |
T |
10: 88,742,278 (GRCm39) |
|
probably benign |
Het |
Tecrl |
A |
G |
5: 83,457,156 (GRCm39) |
|
probably benign |
Het |
Tex14 |
A |
T |
11: 87,434,191 (GRCm39) |
E119V |
probably damaging |
Het |
Tmem94 |
A |
G |
11: 115,683,224 (GRCm39) |
K669R |
probably damaging |
Het |
Tnfrsf4 |
C |
A |
4: 156,099,868 (GRCm39) |
H130Q |
probably damaging |
Het |
Trav18 |
G |
A |
14: 54,069,008 (GRCm39) |
A18T |
probably benign |
Het |
|
Other mutations in Dennd6b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02709:Dennd6b
|
APN |
15 |
89,075,125 (GRCm39) |
splice site |
probably benign |
|
IGL03133:Dennd6b
|
APN |
15 |
89,072,726 (GRCm39) |
critical splice acceptor site |
probably null |
|
P0016:Dennd6b
|
UTSW |
15 |
89,071,180 (GRCm39) |
missense |
probably benign |
|
PIT4791001:Dennd6b
|
UTSW |
15 |
89,070,955 (GRCm39) |
critical splice donor site |
probably null |
|
R0025:Dennd6b
|
UTSW |
15 |
89,070,386 (GRCm39) |
missense |
probably benign |
0.11 |
R0025:Dennd6b
|
UTSW |
15 |
89,070,386 (GRCm39) |
missense |
probably benign |
0.11 |
R0268:Dennd6b
|
UTSW |
15 |
89,080,432 (GRCm39) |
missense |
probably benign |
0.01 |
R0344:Dennd6b
|
UTSW |
15 |
89,080,432 (GRCm39) |
missense |
probably benign |
0.01 |
R0391:Dennd6b
|
UTSW |
15 |
89,071,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R1453:Dennd6b
|
UTSW |
15 |
89,073,075 (GRCm39) |
missense |
probably damaging |
0.99 |
R1655:Dennd6b
|
UTSW |
15 |
89,080,543 (GRCm39) |
missense |
unknown |
|
R1670:Dennd6b
|
UTSW |
15 |
89,069,540 (GRCm39) |
intron |
probably benign |
|
R1765:Dennd6b
|
UTSW |
15 |
89,074,506 (GRCm39) |
nonsense |
probably null |
|
R1968:Dennd6b
|
UTSW |
15 |
89,074,544 (GRCm39) |
missense |
possibly damaging |
0.63 |
R3692:Dennd6b
|
UTSW |
15 |
89,071,030 (GRCm39) |
splice site |
probably benign |
|
R4344:Dennd6b
|
UTSW |
15 |
89,072,866 (GRCm39) |
missense |
probably benign |
0.00 |
R4736:Dennd6b
|
UTSW |
15 |
89,069,795 (GRCm39) |
missense |
probably benign |
0.00 |
R5030:Dennd6b
|
UTSW |
15 |
89,080,454 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5058:Dennd6b
|
UTSW |
15 |
89,071,553 (GRCm39) |
missense |
possibly damaging |
0.69 |
R5509:Dennd6b
|
UTSW |
15 |
89,069,225 (GRCm39) |
missense |
probably damaging |
1.00 |
R6005:Dennd6b
|
UTSW |
15 |
89,072,371 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6160:Dennd6b
|
UTSW |
15 |
89,073,024 (GRCm39) |
missense |
probably damaging |
0.97 |
R6535:Dennd6b
|
UTSW |
15 |
89,070,570 (GRCm39) |
missense |
probably damaging |
1.00 |
R6646:Dennd6b
|
UTSW |
15 |
89,070,387 (GRCm39) |
missense |
probably damaging |
0.99 |
R7098:Dennd6b
|
UTSW |
15 |
89,072,890 (GRCm39) |
missense |
probably damaging |
1.00 |
R7169:Dennd6b
|
UTSW |
15 |
89,073,055 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7381:Dennd6b
|
UTSW |
15 |
89,070,376 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7706:Dennd6b
|
UTSW |
15 |
89,069,447 (GRCm39) |
missense |
probably benign |
0.19 |
R8070:Dennd6b
|
UTSW |
15 |
89,069,576 (GRCm39) |
missense |
probably benign |
0.29 |
R8803:Dennd6b
|
UTSW |
15 |
89,070,383 (GRCm39) |
missense |
probably benign |
0.01 |
R8927:Dennd6b
|
UTSW |
15 |
89,069,780 (GRCm39) |
frame shift |
probably null |
|
R9291:Dennd6b
|
UTSW |
15 |
89,071,590 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0063:Dennd6b
|
UTSW |
15 |
89,069,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |