Incidental Mutation 'R6646:Dennd6b'
| ID |
527987 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6b
|
| Ensembl Gene |
ENSMUSG00000015377 |
| Gene Name |
DENN domain containing 6B |
| Synonyms |
Fam116b, 1700027J05Rik |
| MMRRC Submission |
044767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.142)
|
| Stock # |
R6646 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
89066416-89080699 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 89070387 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 427
(F427L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077978
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078953]
[ENSMUST00000229755]
|
| AlphaFold |
Q9D9V7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000078953
AA Change: F427L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077978
Gene: ENSMUSG00000015377
AA Change: F427L
| 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 |
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
|
| Meta Mutation Damage Score |
0.8822 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.4%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
G |
T |
2: 163,577,343 (GRCm39) |
N48K |
probably benign |
Het |
| Aldh1a7 |
C |
T |
19: 20,677,275 (GRCm39) |
A449T |
possibly damaging |
Het |
| Arhgef28 |
A |
G |
13: 98,076,002 (GRCm39) |
V1344A |
probably benign |
Het |
| Carmil3 |
A |
T |
14: 55,745,387 (GRCm39) |
E1371D |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,937,670 (GRCm39) |
A698T |
possibly damaging |
Het |
| Dedd2 |
T |
C |
7: 24,903,038 (GRCm39) |
D307G |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Doc2a |
G |
A |
7: 126,450,791 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,307,888 (GRCm39) |
T6503A |
possibly damaging |
Het |
| Ehmt1 |
A |
T |
2: 24,696,322 (GRCm39) |
I922K |
probably damaging |
Het |
| Gbp9 |
A |
G |
5: 105,230,769 (GRCm39) |
I385T |
probably benign |
Het |
| Gipc2 |
A |
T |
3: 151,799,838 (GRCm39) |
D297E |
possibly damaging |
Het |
| Krt6b |
T |
A |
15: 101,585,649 (GRCm39) |
Q428L |
probably damaging |
Het |
| Loxl4 |
T |
C |
19: 42,587,220 (GRCm39) |
D625G |
probably damaging |
Het |
| Lrrn2 |
C |
T |
1: 132,866,794 (GRCm39) |
P620S |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,293,870 (GRCm39) |
V875A |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,381,496 (GRCm39) |
T727A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,973,544 (GRCm39) |
D1929G |
possibly damaging |
Het |
| Pard3b |
T |
C |
1: 62,200,280 (GRCm39) |
V273A |
probably benign |
Het |
| Pcdhb7 |
T |
A |
18: 37,477,027 (GRCm39) |
V721E |
possibly damaging |
Het |
| Plaa |
A |
T |
4: 94,478,215 (GRCm39) |
H82Q |
probably benign |
Het |
| Plcd1 |
T |
A |
9: 118,904,100 (GRCm39) |
Y278F |
probably damaging |
Het |
| Plxnb1 |
C |
A |
9: 108,937,895 (GRCm39) |
H1214N |
probably benign |
Het |
| Ptprg |
C |
A |
14: 11,962,714 (GRCm38) |
P171T |
probably damaging |
Het |
| Rela |
T |
G |
19: 5,697,132 (GRCm39) |
D446E |
probably damaging |
Het |
| Rpap1 |
T |
C |
2: 119,610,612 (GRCm39) |
I156V |
probably benign |
Het |
| Rpl15 |
T |
C |
14: 18,270,040 (GRCm38) |
Y59C |
probably damaging |
Het |
| Scx |
C |
A |
15: 76,342,121 (GRCm39) |
T107N |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,797,974 (GRCm39) |
K203I |
possibly damaging |
Het |
| Slc16a6 |
C |
T |
11: 109,343,988 (GRCm39) |
M518I |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,313,993 (GRCm39) |
G940R |
probably damaging |
Het |
| Spata31h1 |
T |
A |
10: 82,132,664 (GRCm39) |
E115D |
unknown |
Het |
| Synm |
A |
T |
7: 67,384,875 (GRCm39) |
I487K |
probably damaging |
Het |
| Tcerg1l |
A |
T |
7: 137,996,912 (GRCm39) |
|
probably null |
Het |
| Vmn2r99 |
T |
G |
17: 19,600,293 (GRCm39) |
L439R |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,838,247 (GRCm39) |
L52Q |
probably damaging |
Het |
| Zswim2 |
T |
A |
2: 83,746,128 (GRCm39) |
R437* |
probably null |
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 |
|
|
IGL03109:Dennd6b
|
APN |
15 |
89,069,188 (GRCm39) |
utr 3 prime |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGACTAAATTGACACCCC -3'
(R):5'- ACGACTGCTCAAGGTACAGC -3'
Sequencing Primer
(F):5'- TGGACTCCACCTTCCAGG -3'
(R):5'- CAGTCGATGTTGAGTCAG -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation