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 |