Incidental Mutation 'R3415:Dph6'
| ID |
266754 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dph6
|
| Ensembl Gene |
ENSMUSG00000057147 |
| Gene Name |
diphthamine biosynthesis 6 |
| Synonyms |
5730421E18Rik, Atpbd4, Diphthine ammonia ligase |
| MMRRC Submission |
040633-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
114346897-114485445 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 114348768 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 267
(V267I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028640]
[ENSMUST00000055144]
[ENSMUST00000102542]
|
| AlphaFold |
Q9CQ28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028640
AA Change: V221I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028640
Gene: ENSMUSG00000057147
AA Change: V221I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_4
|
1 |
189 |
3.7e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055144
AA Change: V267I
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000060730
Gene: ENSMUSG00000057147
AA Change: V267I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Diphthami_syn_2
|
1 |
242 |
2e-48 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000102542
|
| SMART Domains |
Protein: ENSMUSP00000099601
Gene: ENSMUSG00000057147
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ATP_bind_4
|
1 |
242 |
1.1e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150447
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc39 |
C |
G |
3: 33,868,646 (GRCm39) |
L813F |
probably benign |
Het |
| Cdh13 |
A |
T |
8: 119,401,946 (GRCm39) |
D116V |
probably benign |
Het |
| Cep170 |
G |
T |
1: 176,583,610 (GRCm39) |
P923Q |
probably damaging |
Het |
| Chga |
A |
G |
12: 102,529,043 (GRCm39) |
E340G |
probably benign |
Het |
| Cmip |
T |
A |
8: 118,076,116 (GRCm39) |
|
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,056,325 (GRCm39) |
Y309C |
probably damaging |
Het |
| Crocc |
G |
A |
4: 140,773,758 (GRCm39) |
T103I |
possibly damaging |
Het |
| Ero1a |
T |
C |
14: 45,525,323 (GRCm39) |
T401A |
possibly damaging |
Het |
| Exoc6b |
C |
G |
6: 84,867,547 (GRCm39) |
L288F |
possibly damaging |
Het |
| Ifi203 |
G |
A |
1: 173,756,326 (GRCm39) |
R486* |
probably null |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Klhl42 |
G |
A |
6: 147,009,378 (GRCm39) |
V406M |
probably damaging |
Het |
| Lims2 |
A |
T |
18: 32,077,208 (GRCm39) |
Y58F |
probably damaging |
Het |
| Lrp12 |
A |
G |
15: 39,741,678 (GRCm39) |
F365L |
probably damaging |
Het |
| Lrrc37 |
A |
T |
11: 103,505,435 (GRCm39) |
S2178T |
possibly damaging |
Het |
| Mark4 |
T |
C |
7: 19,185,650 (GRCm39) |
D28G |
probably benign |
Het |
| Mfsd13a |
C |
T |
19: 46,360,431 (GRCm39) |
R328C |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,464,869 (GRCm39) |
K34N |
possibly damaging |
Het |
| Or4k2 |
T |
A |
14: 50,424,069 (GRCm39) |
T202S |
possibly damaging |
Het |
| P2rx5 |
G |
T |
11: 73,051,486 (GRCm39) |
V22L |
possibly damaging |
Het |
| Pnma8a |
A |
G |
7: 16,694,879 (GRCm39) |
R245G |
possibly damaging |
Het |
| Prpsap1 |
T |
C |
11: 116,369,410 (GRCm39) |
S179G |
probably benign |
Het |
| Specc1 |
A |
G |
11: 62,009,245 (GRCm39) |
T334A |
probably benign |
Het |
| Tas2r124 |
A |
T |
6: 132,732,601 (GRCm39) |
R303S |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,113,629 (GRCm39) |
Y301H |
probably damaging |
Het |
| Unc13c |
G |
T |
9: 73,839,868 (GRCm39) |
H328N |
probably benign |
Het |
| Zfp641 |
T |
C |
15: 98,188,421 (GRCm39) |
D153G |
probably benign |
Het |
| Zp3 |
A |
G |
5: 136,014,514 (GRCm39) |
T278A |
probably benign |
Het |
| Zscan2 |
T |
A |
7: 80,525,150 (GRCm39) |
S290R |
probably damaging |
Het |
|
| Other mutations in Dph6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01067:Dph6
|
APN |
2 |
114,478,290 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01687:Dph6
|
APN |
2 |
114,475,259 (GRCm39) |
nonsense |
probably null |
|
|
IGL01775:Dph6
|
APN |
2 |
114,348,776 (GRCm39) |
splice site |
probably benign |
|
|
IGL02251:Dph6
|
APN |
2 |
114,366,004 (GRCm39) |
critical splice donor site |
probably null |
|
|
grower
|
UTSW |
2 |
114,475,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0049:Dph6
|
UTSW |
2 |
114,353,525 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0049:Dph6
|
UTSW |
2 |
114,353,525 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1142:Dph6
|
UTSW |
2 |
114,478,260 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1240:Dph6
|
UTSW |
2 |
114,475,199 (GRCm39) |
splice site |
probably null |
|
|
R5679:Dph6
|
UTSW |
2 |
114,398,422 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7623:Dph6
|
UTSW |
2 |
114,485,379 (GRCm39) |
start gained |
probably benign |
|
|
R7723:Dph6
|
UTSW |
2 |
114,475,236 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8545:Dph6
|
UTSW |
2 |
114,478,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9179:Dph6
|
UTSW |
2 |
114,353,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9205:Dph6
|
UTSW |
2 |
114,399,995 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGAGGAAAGTACGGGTGGT -3'
(R):5'- TGCACGAATCTCTTGCTGATTCA -3'
Sequencing Primer
(F):5'- TGAGGAAAGTACGGGTGGTATAATAG -3'
(R):5'- GATTCATTCCTCCATTCCAAATGCAG -3'
|
| Posted On |
2015-02-18 |
Incidental Mutation