Incidental Mutation 'R5760:Dennd6a'
| ID |
445261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dennd6a
|
| Ensembl Gene |
ENSMUSG00000040818 |
| Gene Name |
DENN domain containing 6A |
| Synonyms |
A630054L15Rik, Fam116a |
| MMRRC Submission |
043362-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.243)
|
| Stock # |
R5760 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
26295013-26355477 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 26333195 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 144
(I144L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152966
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037585]
[ENSMUST00000203874]
[ENSMUST00000224111]
[ENSMUST00000224248]
[ENSMUST00000224378]
|
| AlphaFold |
Q8BH65 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037585
AA Change: I368L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039361
Gene: ENSMUSG00000040818
AA Change: I368L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
51 |
N/A |
INTRINSIC |
|
Pfam:Avl9
|
59 |
200 |
2.9e-11 |
PFAM |
|
Pfam:DENN
|
165 |
371 |
1.1e-7 |
PFAM |
|
Pfam:SPA
|
265 |
373 |
4.2e-18 |
PFAM |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
563 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203874
AA Change: I368L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144906
Gene: ENSMUSG00000040818
AA Change: I368L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
51 |
N/A |
INTRINSIC |
|
Pfam:Avl9
|
59 |
200 |
2.6e-11 |
PFAM |
|
Pfam:DENN
|
165 |
371 |
9.7e-8 |
PFAM |
|
Pfam:SPA
|
265 |
373 |
3.7e-18 |
PFAM |
|
low complexity region
|
379 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
412 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
526 |
537 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224111
AA Change: I144L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000224248
AA Change: I144L
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224378
AA Change: I144L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225206
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
T |
C |
15: 37,439,835 (GRCm39) |
|
probably benign |
Het |
| Abl2 |
C |
T |
1: 156,469,427 (GRCm39) |
T793M |
probably benign |
Het |
| Accs |
A |
C |
2: 93,676,105 (GRCm39) |
L90R |
probably damaging |
Het |
| Ahnak |
A |
T |
19: 8,990,926 (GRCm39) |
D4070V |
probably damaging |
Het |
| Apbb2 |
A |
G |
5: 66,520,100 (GRCm39) |
V475A |
probably benign |
Het |
| Atp10d |
T |
A |
5: 72,418,280 (GRCm39) |
V602E |
probably benign |
Het |
| Cdh23 |
C |
T |
10: 60,242,171 (GRCm39) |
V1088M |
probably damaging |
Het |
| Dnajc6 |
G |
A |
4: 101,475,839 (GRCm39) |
A571T |
probably benign |
Het |
| Drap1 |
A |
G |
19: 5,474,391 (GRCm39) |
I18T |
probably damaging |
Het |
| En2 |
C |
A |
5: 28,371,997 (GRCm39) |
A158D |
probably benign |
Het |
| Fbn1 |
C |
T |
2: 125,203,167 (GRCm39) |
G1219R |
probably damaging |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Gm7535 |
C |
T |
17: 18,132,080 (GRCm39) |
|
probably benign |
Het |
| Hao2 |
A |
T |
3: 98,787,748 (GRCm39) |
L227* |
probably null |
Het |
| Hdlbp |
C |
T |
1: 93,368,499 (GRCm39) |
|
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,952,208 (GRCm39) |
K175E |
possibly damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,304,580 (GRCm39) |
A3075T |
possibly damaging |
Het |
| Igkv6-15 |
A |
T |
6: 70,383,516 (GRCm39) |
I95N |
probably damaging |
Het |
| Itgad |
A |
T |
7: 127,802,537 (GRCm39) |
Q1001L |
probably benign |
Het |
| Jaml |
T |
A |
9: 45,009,052 (GRCm39) |
M151K |
probably benign |
Het |
| Lix1 |
T |
A |
17: 17,647,499 (GRCm39) |
V55D |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,407,677 (GRCm39) |
S179P |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
| Mcm3 |
CT |
CTT |
1: 20,878,972 (GRCm39) |
|
probably null |
Het |
| Mroh5 |
A |
C |
15: 73,693,356 (GRCm39) |
I28S |
probably damaging |
Het |
| Naip5 |
T |
G |
13: 100,379,346 (GRCm39) |
K231N |
probably damaging |
Het |
| Neb |
A |
C |
2: 52,073,830 (GRCm39) |
Y5683D |
probably damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,179,031 (GRCm39) |
H126Q |
probably benign |
Het |
| Npm2 |
A |
G |
14: 70,886,935 (GRCm39) |
F110L |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 26,149,772 (GRCm39) |
H319L |
probably damaging |
Het |
| Nup205 |
G |
A |
6: 35,224,278 (GRCm39) |
R2039Q |
probably damaging |
Het |
| Or10j7 |
C |
A |
1: 173,011,318 (GRCm39) |
A228S |
probably benign |
Het |
| Or6b2b |
A |
G |
1: 92,418,922 (GRCm39) |
L185P |
possibly damaging |
Het |
| Or7d10 |
A |
C |
9: 19,832,050 (GRCm39) |
T182P |
probably benign |
Het |
| Pcdhac2 |
G |
A |
18: 37,279,453 (GRCm39) |
G811E |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,143,778 (GRCm39) |
R3849S |
probably benign |
Het |
| Pmfbp1 |
A |
T |
8: 110,247,655 (GRCm39) |
D317V |
probably damaging |
Het |
| Sall1 |
T |
C |
8: 89,755,278 (GRCm39) |
N1234D |
possibly damaging |
Het |
| Slc12a7 |
T |
A |
13: 73,961,741 (GRCm39) |
V1037D |
probably damaging |
Het |
| Slc12a8 |
G |
T |
16: 33,445,155 (GRCm39) |
E404* |
probably null |
Het |
| Tchhl1 |
C |
G |
3: 93,378,863 (GRCm39) |
S522R |
probably damaging |
Het |
| Tgif1 |
A |
G |
17: 71,151,996 (GRCm39) |
V152A |
probably damaging |
Het |
| Tshz3 |
C |
A |
7: 36,470,994 (GRCm39) |
H994Q |
probably damaging |
Het |
| Ubash3b |
T |
G |
9: 40,988,719 (GRCm39) |
K62T |
probably benign |
Het |
| Ushbp1 |
G |
T |
8: 71,840,012 (GRCm39) |
D546E |
probably damaging |
Het |
| Zfp458 |
A |
C |
13: 67,405,853 (GRCm39) |
C192W |
probably damaging |
Het |
| Zfp808 |
A |
T |
13: 62,319,740 (GRCm39) |
H323L |
probably damaging |
Het |
|
| Other mutations in Dennd6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00427:Dennd6a
|
APN |
14 |
26,329,768 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01011:Dennd6a
|
APN |
14 |
26,324,209 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01395:Dennd6a
|
APN |
14 |
26,338,056 (GRCm39) |
nonsense |
probably null |
|
|
IGL01559:Dennd6a
|
APN |
14 |
26,329,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01590:Dennd6a
|
APN |
14 |
26,340,507 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL02187:Dennd6a
|
APN |
14 |
26,328,081 (GRCm39) |
missense |
probably benign |
|
|
IGL03296:Dennd6a
|
APN |
14 |
26,338,115 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1831:Dennd6a
|
UTSW |
14 |
26,328,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1833:Dennd6a
|
UTSW |
14 |
26,328,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2020:Dennd6a
|
UTSW |
14 |
26,333,158 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2032:Dennd6a
|
UTSW |
14 |
26,325,904 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2036:Dennd6a
|
UTSW |
14 |
26,329,274 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3707:Dennd6a
|
UTSW |
14 |
26,313,546 (GRCm39) |
splice site |
probably benign |
|
|
R4112:Dennd6a
|
UTSW |
14 |
26,349,673 (GRCm39) |
intron |
probably benign |
|
|
R4728:Dennd6a
|
UTSW |
14 |
26,348,575 (GRCm39) |
missense |
probably null |
1.00 |
|
R5053:Dennd6a
|
UTSW |
14 |
26,329,738 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5774:Dennd6a
|
UTSW |
14 |
26,300,974 (GRCm39) |
missense |
probably benign |
|
|
R5775:Dennd6a
|
UTSW |
14 |
26,340,528 (GRCm39) |
nonsense |
probably null |
|
|
R6238:Dennd6a
|
UTSW |
14 |
26,337,813 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6446:Dennd6a
|
UTSW |
14 |
26,350,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6734:Dennd6a
|
UTSW |
14 |
26,329,774 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7289:Dennd6a
|
UTSW |
14 |
26,333,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7436:Dennd6a
|
UTSW |
14 |
26,300,865 (GRCm39) |
nonsense |
probably null |
|
|
R7887:Dennd6a
|
UTSW |
14 |
26,320,812 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R8348:Dennd6a
|
UTSW |
14 |
26,328,098 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8448:Dennd6a
|
UTSW |
14 |
26,328,098 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8847:Dennd6a
|
UTSW |
14 |
26,327,086 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9102:Dennd6a
|
UTSW |
14 |
26,350,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9536:Dennd6a
|
UTSW |
14 |
26,329,758 (GRCm39) |
nonsense |
probably null |
|
|
R9745:Dennd6a
|
UTSW |
14 |
26,320,818 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF003:Dennd6a
|
UTSW |
14 |
26,350,689 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGTGTCTAGTACTGAATATGTTGCC -3'
(R):5'- CTTTTGGGGTAGGACATAGGCC -3'
Sequencing Primer
(F):5'- ACTGAATATGTTGCCTGTCATTTATG -3'
(R):5'- CATAGGCCCATTTTAGTGAGAAGC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation