Incidental Mutation 'IGL01406:Spdye4b'
| ID |
79807 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Spdye4b
|
| Ensembl Gene |
ENSMUSG00000029586 |
| Gene Name |
speedy/RINGO cell cycle regulator family, member E4B |
| Synonyms |
4933411G11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01406
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
143166772-143190830 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 143188166 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 220
(P220S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125524
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031574]
[ENSMUST00000159781]
|
| AlphaFold |
Q8CDE8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031574
AA Change: P220S
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031574
Gene: ENSMUSG00000029586
AA Change: P220S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
48 |
N/A |
INTRINSIC |
|
Pfam:Spy1
|
84 |
213 |
1e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159781
AA Change: P220S
PolyPhen 2
Score 0.413 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125524
Gene: ENSMUSG00000029586
AA Change: P220S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
48 |
N/A |
INTRINSIC |
|
Pfam:Spy1
|
84 |
213 |
1.3e-62 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198090
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
G |
A |
5: 8,180,212 (GRCm39) |
Q558* |
probably null |
Het |
| Adam29 |
A |
T |
8: 56,324,874 (GRCm39) |
Y527N |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,351,046 (GRCm39) |
*3067W |
probably null |
Het |
| B3galt2 |
A |
T |
1: 143,522,844 (GRCm39) |
I327L |
possibly damaging |
Het |
| Cadm2 |
C |
A |
16: 66,612,192 (GRCm39) |
|
probably null |
Het |
| Cd6 |
G |
T |
19: 10,768,501 (GRCm39) |
A496E |
possibly damaging |
Het |
| Cdh16 |
A |
T |
8: 105,345,044 (GRCm39) |
I415N |
possibly damaging |
Het |
| Ces1b |
T |
C |
8: 93,798,622 (GRCm39) |
N188S |
probably damaging |
Het |
| Col4a1 |
T |
C |
8: 11,268,898 (GRCm39) |
D980G |
probably damaging |
Het |
| Dmgdh |
G |
A |
13: 93,823,539 (GRCm39) |
|
probably benign |
Het |
| Emb |
A |
T |
13: 117,405,466 (GRCm39) |
D296V |
probably damaging |
Het |
| Fbln2 |
T |
C |
6: 91,243,374 (GRCm39) |
S917P |
probably damaging |
Het |
| Fmnl1 |
T |
C |
11: 103,085,516 (GRCm39) |
|
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,433,317 (GRCm39) |
Y2669C |
probably damaging |
Het |
| Gm3115 |
T |
A |
14: 4,087,137 (GRCm38) |
|
probably benign |
Het |
| Hnf1b |
C |
T |
11: 83,779,950 (GRCm39) |
P402S |
probably benign |
Het |
| Il7r |
T |
A |
15: 9,508,300 (GRCm39) |
R341* |
probably null |
Het |
| Krt75 |
T |
C |
15: 101,476,460 (GRCm39) |
Y435C |
probably damaging |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Musk |
T |
C |
4: 58,367,539 (GRCm39) |
Y578H |
probably damaging |
Het |
| Naa20 |
A |
G |
2: 145,757,726 (GRCm39) |
|
probably null |
Het |
| Ncoa7 |
T |
C |
10: 30,566,836 (GRCm39) |
D565G |
probably damaging |
Het |
| Pgap1 |
C |
T |
1: 54,572,573 (GRCm39) |
|
probably null |
Het |
| Plekha5 |
G |
A |
6: 140,518,676 (GRCm39) |
R172H |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,353,338 (GRCm39) |
Y77C |
probably damaging |
Het |
| Tbx18 |
T |
A |
9: 87,595,596 (GRCm39) |
D326V |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,510,132 (GRCm39) |
L706* |
probably null |
Het |
| Tnfrsf21 |
T |
A |
17: 43,348,837 (GRCm39) |
C150S |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,042,352 (GRCm39) |
D1187G |
possibly damaging |
Het |
| Trav5-1 |
T |
C |
14: 52,860,444 (GRCm39) |
L83P |
probably damaging |
Het |
| Vmn2r75 |
T |
A |
7: 85,812,500 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Spdye4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0080:Spdye4b
|
UTSW |
5 |
143,181,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:Spdye4b
|
UTSW |
5 |
143,181,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0904:Spdye4b
|
UTSW |
5 |
143,181,423 (GRCm39) |
splice site |
probably benign |
|
|
R1474:Spdye4b
|
UTSW |
5 |
143,181,472 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2484:Spdye4b
|
UTSW |
5 |
143,187,848 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3838:Spdye4b
|
UTSW |
5 |
143,178,084 (GRCm39) |
missense |
probably benign |
|
|
R4766:Spdye4b
|
UTSW |
5 |
143,182,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5303:Spdye4b
|
UTSW |
5 |
143,188,158 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5569:Spdye4b
|
UTSW |
5 |
143,188,176 (GRCm39) |
missense |
probably benign |
0.15 |
|
R5778:Spdye4b
|
UTSW |
5 |
143,188,142 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Spdye4b
|
UTSW |
5 |
143,188,103 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7347:Spdye4b
|
UTSW |
5 |
143,188,145 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7532:Spdye4b
|
UTSW |
5 |
143,180,652 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7860:Spdye4b
|
UTSW |
5 |
143,180,609 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R8135:Spdye4b
|
UTSW |
5 |
143,180,777 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8872:Spdye4b
|
UTSW |
5 |
143,187,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9577:Spdye4b
|
UTSW |
5 |
143,182,055 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2013-11-05 |
Incidental Mutation