Incidental Mutation 'R4032:D17H6S53E'
| ID |
313559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
D17H6S53E
|
| Ensembl Gene |
ENSMUSG00000043311 |
| Gene Name |
DNA segment, Chr 17, human D6S53E |
| Synonyms |
NG34 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4032 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
35345378-35347831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35346355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 89
(S89P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061264
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025249]
[ENSMUST00000052167]
[ENSMUST00000061859]
[ENSMUST00000165306]
[ENSMUST00000173043]
[ENSMUST00000173380]
|
| AlphaFold |
Q9Z1R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025249
|
| SMART Domains |
Protein: ENSMUSP00000025249
Gene: ENSMUSG00000024391
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ApoM
|
1 |
189 |
9.2e-99 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052167
|
| SMART Domains |
Protein: ENSMUSP00000056646
Gene: ENSMUSG00000092417
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
|
low complexity region
|
82 |
99 |
N/A |
INTRINSIC |
|
ANK
|
156 |
186 |
4.36e-1 |
SMART |
|
G_patch
|
269 |
315 |
1.45e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061859
AA Change: S89P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000061264
Gene: ENSMUSG00000043311
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4661
|
16 |
264 |
8.3e-141 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165306
|
| SMART Domains |
Protein: ENSMUSP00000133240
Gene: ENSMUSG00000092417
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
ANK
|
133 |
163 |
4.36e-1 |
SMART |
|
G_patch
|
246 |
292 |
1.45e-14 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173043
|
| SMART Domains |
Protein: ENSMUSP00000135684
Gene: ENSMUSG00000092417
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
ANK
|
133 |
163 |
2.7e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173380
|
| SMART Domains |
Protein: ENSMUSP00000134694
Gene: ENSMUSG00000092417
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
59 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173576
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173873
AA Change: S89P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000133854
Gene: ENSMUSG00000043311
AA Change: S89P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4661
|
16 |
264 |
3.5e-141 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174311
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Arhgap17 |
G |
T |
7: 122,879,289 (GRCm39) |
|
probably benign |
Het |
| Atp13a4 |
T |
A |
16: 29,237,389 (GRCm39) |
M846L |
probably damaging |
Het |
| Capn5 |
G |
T |
7: 97,778,453 (GRCm39) |
Q389K |
probably damaging |
Het |
| Cdkl3 |
T |
A |
11: 51,902,118 (GRCm39) |
I109N |
probably damaging |
Het |
| Cry2 |
T |
C |
2: 92,244,172 (GRCm39) |
I334V |
probably benign |
Het |
| Cs |
T |
C |
10: 128,196,913 (GRCm39) |
L436P |
probably damaging |
Het |
| Dync1h1 |
C |
T |
12: 110,584,483 (GRCm39) |
Q629* |
probably null |
Het |
| H4c12 |
T |
C |
13: 21,934,588 (GRCm39) |
I30V |
possibly damaging |
Het |
| Itpka |
C |
T |
2: 119,573,082 (GRCm39) |
P75S |
probably benign |
Het |
| Lyst |
C |
T |
13: 13,791,250 (GRCm39) |
H38Y |
probably damaging |
Het |
| Mansc4 |
T |
C |
6: 146,976,678 (GRCm39) |
K313E |
probably benign |
Het |
| Megf6 |
T |
A |
4: 154,261,550 (GRCm39) |
C58* |
probably null |
Het |
| Mtor |
T |
C |
4: 148,621,209 (GRCm39) |
V1869A |
probably benign |
Het |
| Mybpc1 |
T |
C |
10: 88,365,426 (GRCm39) |
D899G |
probably benign |
Het |
| Nek10 |
C |
A |
14: 14,853,877 (GRCm38) |
|
probably null |
Het |
| Nfkb1 |
T |
C |
3: 135,300,110 (GRCm39) |
S657G |
possibly damaging |
Het |
| Or10d5j |
T |
C |
9: 39,867,629 (GRCm39) |
T213A |
probably benign |
Het |
| Or2a25 |
A |
T |
6: 42,888,559 (GRCm39) |
Y34F |
probably benign |
Het |
| Or4m1 |
T |
A |
14: 50,557,767 (GRCm39) |
D175V |
possibly damaging |
Het |
| Or4n5 |
G |
T |
14: 50,132,433 (GRCm39) |
H275Q |
probably benign |
Het |
| Or51f23 |
A |
G |
7: 102,453,396 (GRCm39) |
K237R |
probably benign |
Het |
| Pabir1 |
C |
T |
19: 24,454,106 (GRCm39) |
M205I |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,429,753 (GRCm39) |
D82G |
probably damaging |
Het |
| Pdzrn4 |
C |
T |
15: 92,667,414 (GRCm39) |
T522M |
probably damaging |
Het |
| Ptpro |
C |
A |
6: 137,438,740 (GRCm39) |
N373K |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,720,386 (GRCm39) |
Y1478C |
probably damaging |
Het |
| Sdc2 |
A |
T |
15: 33,017,323 (GRCm39) |
I46F |
probably damaging |
Het |
| Sergef |
C |
A |
7: 46,092,726 (GRCm39) |
E428* |
probably null |
Het |
| Stk36 |
A |
G |
1: 74,665,207 (GRCm39) |
S651G |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,025,081 (GRCm39) |
V559A |
|
Het |
| Ugt8a |
C |
A |
3: 125,667,807 (GRCm39) |
D345Y |
probably damaging |
Het |
| Usp44 |
A |
G |
10: 93,683,127 (GRCm39) |
|
probably benign |
Het |
| Vps13a |
A |
T |
19: 16,594,263 (GRCm39) |
L3156Q |
probably damaging |
Het |
| Zfp655 |
A |
G |
5: 145,180,858 (GRCm39) |
T239A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,449 (GRCm39) |
T210A |
possibly damaging |
Het |
|
| Other mutations in D17H6S53E |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01065:D17H6S53E
|
APN |
17 |
35,346,259 (GRCm39) |
nonsense |
probably null |
0.00 |
|
R0833:D17H6S53E
|
UTSW |
17 |
35,346,385 (GRCm39) |
splice site |
probably null |
|
|
R0836:D17H6S53E
|
UTSW |
17 |
35,346,385 (GRCm39) |
splice site |
probably null |
|
|
R1690:D17H6S53E
|
UTSW |
17 |
35,346,188 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3623:D17H6S53E
|
UTSW |
17 |
35,346,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3624:D17H6S53E
|
UTSW |
17 |
35,346,512 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6919:D17H6S53E
|
UTSW |
17 |
35,346,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8467:D17H6S53E
|
UTSW |
17 |
35,346,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9242:D17H6S53E
|
UTSW |
17 |
35,346,536 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9532:D17H6S53E
|
UTSW |
17 |
35,346,145 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGGGGTCGAAAGAAATC -3'
(R):5'- GGTTTCTCCAACAGGGCTTCTG -3'
Sequencing Primer
(F):5'- GATTTGCCTGCCCCAGAAC -3'
(R):5'- TTCTGGCCCAATGGTGCCTAG -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation