Incidental Mutation 'R4274:Dph7'
| ID |
324685 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dph7
|
| Ensembl Gene |
ENSMUSG00000026975 |
| Gene Name |
diphthamine biosynethesis 7 |
| Synonyms |
2810443J12Rik, Wdr85 |
| MMRRC Submission |
041077-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.084)
|
| Stock # |
R4274 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
24852412-24862175 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24853512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 109
(N109S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028351
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028350]
[ENSMUST00000028351]
[ENSMUST00000124383]
[ENSMUST00000126909]
[ENSMUST00000135339]
[ENSMUST00000143253]
[ENSMUST00000153375]
[ENSMUST00000148042]
|
| AlphaFold |
Q9CYU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028350
|
| SMART Domains |
Protein: ENSMUSP00000028350
Gene: ENSMUSG00000026974
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNH_3
|
66 |
105 |
1.9e-10 |
PFAM |
|
Pfam:zf-MYND
|
167 |
212 |
1.2e-10 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028351
AA Change: N109S
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000028351
Gene: ENSMUSG00000026975
AA Change: N109S
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
74 |
118 |
3e-10 |
BLAST |
|
Blast:WD40
|
128 |
175 |
3e-15 |
BLAST |
|
WD40
|
183 |
223 |
7.43e-1 |
SMART |
|
WD40
|
227 |
267 |
1.08e-4 |
SMART |
|
WD40
|
271 |
310 |
1.37e2 |
SMART |
|
WD40
|
420 |
455 |
1.97e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124383
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126909
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135339
|
| SMART Domains |
Protein: ENSMUSP00000142067
Gene: ENSMUSG00000026975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143253
|
| SMART Domains |
Protein: ENSMUSP00000142315
Gene: ENSMUSG00000026975
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
67 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146382
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153375
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148042
|
| SMART Domains |
Protein: ENSMUSP00000141788
Gene: ENSMUSG00000026974
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:HNH_3
|
27 |
66 |
1.4e-10 |
PFAM |
|
Pfam:zf-MYND
|
124 |
173 |
5e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Diphthamide is a post-translationally modified histidine residue present in elongation factor 2, and is the target of diphtheria toxin. This gene encodes a protein that contains a WD-40 domain, and is thought to be involved in diphthamide biosynthesis. A similar protein in yeast functions as a methylesterase, converting methylated diphthine to diphthine, which can then undergo amidation to produce diphthamide. [provided by RefSeq, Oct 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
| Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
| Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
| Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
| Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
| Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
| Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
| Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
| Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
| Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
| Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
| Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
| Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
| Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
| Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
| Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
| Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
| Hps4 |
G |
A |
5: 112,522,896 (GRCm39) |
|
probably benign |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
| Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
| Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
| Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
| Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
| Or8a1b |
A |
T |
9: 37,623,364 (GRCm39) |
D70E |
probably damaging |
Het |
| Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
| Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
| Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
| Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
| Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
| Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
| Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
| Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
| Tnpo1 |
GCACCTCTGCTTCCTC |
GCACCTCTGCTTCCTCACCTCTGCTTCCTC |
13: 99,003,637 (GRCm39) |
|
probably null |
Het |
| Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
| Tns1 |
T |
A |
1: 73,967,257 (GRCm39) |
Y1115F |
probably damaging |
Het |
| Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
| Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
| Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
| Zfp82 |
C |
T |
7: 29,755,792 (GRCm39) |
R430H |
probably damaging |
Het |
| Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
probably benign |
Het |
|
| Other mutations in Dph7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00828:Dph7
|
APN |
2 |
24,861,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01021:Dph7
|
APN |
2 |
24,861,935 (GRCm39) |
splice site |
probably null |
|
|
IGL01322:Dph7
|
APN |
2 |
24,855,629 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02393:Dph7
|
APN |
2 |
24,856,609 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03286:Dph7
|
APN |
2 |
24,856,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0614:Dph7
|
UTSW |
2 |
24,858,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1169:Dph7
|
UTSW |
2 |
24,856,583 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1696:Dph7
|
UTSW |
2 |
24,859,692 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2000:Dph7
|
UTSW |
2 |
24,861,653 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4738:Dph7
|
UTSW |
2 |
24,853,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4740:Dph7
|
UTSW |
2 |
24,853,143 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5475:Dph7
|
UTSW |
2 |
24,858,969 (GRCm39) |
splice site |
probably null |
|
|
R6019:Dph7
|
UTSW |
2 |
24,853,552 (GRCm39) |
nonsense |
probably null |
|
|
R6645:Dph7
|
UTSW |
2 |
24,855,663 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7443:Dph7
|
UTSW |
2 |
24,852,505 (GRCm39) |
missense |
probably benign |
|
|
R7570:Dph7
|
UTSW |
2 |
24,855,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Dph7
|
UTSW |
2 |
24,861,624 (GRCm39) |
missense |
probably benign |
|
|
R8135:Dph7
|
UTSW |
2 |
24,859,556 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9134:Dph7
|
UTSW |
2 |
24,861,720 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9448:Dph7
|
UTSW |
2 |
24,861,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9672:Dph7
|
UTSW |
2 |
24,855,606 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCTGAAAAGCCTTTGTTTGGAG -3'
(R):5'- GTGTCCTCATCTCACAAGAACC -3'
Sequencing Primer
(F):5'- GACAACAGTTGGCTCTAGTTTG -3'
(R):5'- AAAGAGATCTGCTTGCCTCTG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation