Incidental Mutation 'IGL03095:Ipcef1'
| ID |
418542 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ipcef1
|
| Ensembl Gene |
ENSMUSG00000064065 |
| Gene Name |
interaction protein for cytohesin exchange factors 1 |
| Synonyms |
A130090K04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
IGL03095
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 6869732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 223
(S223P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000086896]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000105617]
[ENSMUST00000170680]
[ENSMUST00000147171]
[ENSMUST00000129954]
[ENSMUST00000144264]
[ENSMUST00000129221]
[ENSMUST00000135502]
[ENSMUST00000123861]
[ENSMUST00000154941]
[ENSMUST00000145156]
|
| AlphaFold |
Q5DU31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052751
|
| SMART Domains |
Protein: ENSMUSP00000060329
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
76 |
325 |
1.1e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
79 |
351 |
1e-10 |
PFAM |
|
Pfam:7tm_1
|
85 |
336 |
3.2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000063036
|
| SMART Domains |
Protein: ENSMUSP00000053498
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
268 |
8.7e-64 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078070
AA Change: S274P
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: S274P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
14 |
114 |
5.87e-20 |
SMART |
|
low complexity region
|
132 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
246 |
261 |
N/A |
INTRINSIC |
|
Blast:PH
|
286 |
343 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086896
AA Change: S223P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084110
Gene: ENSMUSG00000064065
AA Change: S223P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
3 |
65 |
7.4e-8 |
PFAM |
|
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105601
|
| SMART Domains |
Protein: ENSMUSP00000101226
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
46 |
100 |
3e-9 |
SMART |
|
PDB:4DKL|A
|
52 |
100 |
3e-21 |
PDB |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105611
|
| SMART Domains |
Protein: ENSMUSP00000101236
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
76 |
338 |
1.7e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
79 |
351 |
1.4e-10 |
PFAM |
|
Pfam:7tm_1
|
85 |
336 |
4.4e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105615
|
| SMART Domains |
Protein: ENSMUSP00000101240
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
268 |
1.3e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105617
AA Change: S270P
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: S270P
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
14 |
114 |
5.87e-20 |
SMART |
|
low complexity region
|
132 |
153 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
257 |
N/A |
INTRINSIC |
|
Blast:PH
|
282 |
339 |
1e-10 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170680
AA Change: S223P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128131
Gene: ENSMUSG00000064065
AA Change: S223P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
3 |
65 |
7.4e-8 |
PFAM |
|
low complexity region
|
85 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
195 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144622
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154998
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147171
|
| SMART Domains |
Protein: ENSMUSP00000117950
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
268 |
9.2e-64 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129954
|
| SMART Domains |
Protein: ENSMUSP00000122385
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
76 |
338 |
6.9e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
79 |
351 |
1.5e-10 |
PFAM |
|
Pfam:7tm_1
|
85 |
336 |
5.4e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144264
|
| SMART Domains |
Protein: ENSMUSP00000115836
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
76 |
325 |
1.7e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
79 |
351 |
1e-10 |
PFAM |
|
Pfam:7tm_1
|
85 |
336 |
3.4e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129221
|
| SMART Domains |
Protein: ENSMUSP00000123117
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
12 |
261 |
1.1e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
15 |
287 |
7.3e-11 |
PFAM |
|
Pfam:7tm_1
|
21 |
272 |
2.4e-67 |
PFAM |
|
low complexity region
|
340 |
351 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135502
|
| SMART Domains |
Protein: ENSMUSP00000135143
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
76 |
339 |
2.2e-7 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
79 |
351 |
1.9e-10 |
PFAM |
|
Pfam:7tm_1
|
85 |
336 |
7.5e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123861
|
| SMART Domains |
Protein: ENSMUSP00000120187
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
46 |
100 |
3e-9 |
SMART |
|
PDB:4DKL|A
|
52 |
100 |
3e-21 |
PDB |
|
low complexity region
|
119 |
131 |
N/A |
INTRINSIC |
|
low complexity region
|
173 |
184 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154941
|
| SMART Domains |
Protein: ENSMUSP00000115413
Gene: ENSMUSG00000000766
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srx
|
12 |
261 |
9.6e-8 |
PFAM |
|
Pfam:7TM_GPCR_Srsx
|
15 |
287 |
6.1e-11 |
PFAM |
|
Pfam:7tm_1
|
21 |
272 |
2e-67 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145156
|
| SMART Domains |
Protein: ENSMUSP00000114267
Gene: ENSMUSG00000064065
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
37 |
137 |
5.87e-20 |
SMART |
|
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bche |
A |
G |
3: 73,609,216 (GRCm39) |
L70P |
probably damaging |
Het |
| Cacna1h |
C |
A |
17: 25,602,752 (GRCm39) |
|
probably benign |
Het |
| Ccdc60 |
A |
T |
5: 116,284,274 (GRCm39) |
|
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,460,371 (GRCm39) |
N194D |
probably benign |
Het |
| Chodl |
T |
A |
16: 78,738,321 (GRCm39) |
D96E |
probably damaging |
Het |
| Clca3b |
C |
A |
3: 144,552,671 (GRCm39) |
G122* |
probably null |
Het |
| Crybg1 |
T |
C |
10: 43,865,245 (GRCm39) |
I1411V |
probably damaging |
Het |
| Dock9 |
A |
C |
14: 121,876,940 (GRCm39) |
V477G |
probably damaging |
Het |
| Fam149a |
T |
A |
8: 45,794,265 (GRCm39) |
E632D |
probably damaging |
Het |
| Gabra4 |
A |
G |
5: 71,781,358 (GRCm39) |
V351A |
probably damaging |
Het |
| Gen1 |
T |
A |
12: 11,298,265 (GRCm39) |
I319L |
probably benign |
Het |
| Gne |
C |
A |
4: 44,055,211 (GRCm39) |
D255Y |
probably damaging |
Het |
| Gpr146 |
A |
G |
5: 139,378,705 (GRCm39) |
H169R |
probably benign |
Het |
| Htatip2 |
A |
G |
7: 49,409,522 (GRCm39) |
E92G |
probably benign |
Het |
| Kcnmb2 |
T |
A |
3: 32,252,276 (GRCm39) |
*37R |
probably null |
Het |
| Lin54 |
A |
T |
5: 100,602,337 (GRCm39) |
V400E |
probably damaging |
Het |
| Ltbp1 |
C |
A |
17: 75,589,413 (GRCm39) |
Q511K |
possibly damaging |
Het |
| Lyg1 |
A |
G |
1: 37,989,849 (GRCm39) |
|
probably benign |
Het |
| Nampt |
T |
A |
12: 32,892,685 (GRCm39) |
V324D |
possibly damaging |
Het |
| Nat8b-ps |
T |
G |
6: 85,909,950 (GRCm39) |
|
probably benign |
Het |
| Neb |
G |
A |
2: 52,059,100 (GRCm39) |
H213Y |
probably damaging |
Het |
| Nfkb1 |
T |
C |
3: 135,324,591 (GRCm39) |
E179G |
possibly damaging |
Het |
| Nlrc5 |
T |
A |
8: 95,248,536 (GRCm39) |
|
probably benign |
Het |
| Or12d2 |
T |
A |
17: 37,624,664 (GRCm39) |
I204F |
probably benign |
Het |
| Or8k38 |
A |
T |
2: 86,488,775 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Pcdh15 |
G |
A |
10: 74,191,706 (GRCm39) |
V601M |
probably damaging |
Het |
| Pigc |
G |
A |
1: 161,798,345 (GRCm39) |
R109Q |
possibly damaging |
Het |
| Plxna2 |
A |
G |
1: 194,483,435 (GRCm39) |
N1582S |
probably damaging |
Het |
| Pros1 |
C |
T |
16: 62,728,132 (GRCm39) |
Q279* |
probably null |
Het |
| Psmb5 |
A |
G |
14: 54,854,014 (GRCm39) |
S155P |
probably damaging |
Het |
| Rock2 |
T |
A |
12: 17,003,341 (GRCm39) |
D393E |
probably benign |
Het |
| Slc25a21 |
T |
C |
12: 56,785,410 (GRCm39) |
T156A |
probably benign |
Het |
| Slc44a1 |
T |
A |
4: 53,536,374 (GRCm39) |
Y183* |
probably null |
Het |
| Sytl2 |
C |
T |
7: 90,041,642 (GRCm39) |
P580L |
probably damaging |
Het |
| Tktl2 |
G |
T |
8: 66,964,936 (GRCm39) |
V165F |
probably damaging |
Het |
| Trim55 |
A |
G |
3: 19,728,629 (GRCm39) |
E480G |
probably benign |
Het |
| Vmn2r92 |
T |
A |
17: 18,386,972 (GRCm39) |
S104T |
possibly damaging |
Het |
| Vps51 |
C |
T |
19: 6,120,078 (GRCm39) |
R490H |
probably damaging |
Het |
| Wdr43 |
G |
A |
17: 71,948,282 (GRCm39) |
V391I |
probably benign |
Het |
| Zranb1 |
T |
G |
7: 132,551,635 (GRCm39) |
Y121* |
probably null |
Het |
|
| Other mutations in Ipcef1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01018:Ipcef1
|
APN |
10 |
6,840,551 (GRCm39) |
missense |
probably benign |
|
|
IGL01018:Ipcef1
|
APN |
10 |
6,869,968 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01295:Ipcef1
|
APN |
10 |
6,850,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01738:Ipcef1
|
APN |
10 |
6,840,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0001:Ipcef1
|
UTSW |
10 |
6,850,600 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0206:Ipcef1
|
UTSW |
10 |
6,870,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Ipcef1
|
UTSW |
10 |
6,870,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Ipcef1
|
UTSW |
10 |
6,930,288 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1496:Ipcef1
|
UTSW |
10 |
6,885,173 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1592:Ipcef1
|
UTSW |
10 |
6,885,182 (GRCm39) |
splice site |
probably null |
|
|
R1829:Ipcef1
|
UTSW |
10 |
6,869,900 (GRCm39) |
missense |
probably benign |
0.27 |
|
R1893:Ipcef1
|
UTSW |
10 |
6,850,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2107:Ipcef1
|
UTSW |
10 |
6,840,501 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2160:Ipcef1
|
UTSW |
10 |
6,840,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2413:Ipcef1
|
UTSW |
10 |
6,885,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2655:Ipcef1
|
UTSW |
10 |
6,929,657 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2886:Ipcef1
|
UTSW |
10 |
6,850,641 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4752:Ipcef1
|
UTSW |
10 |
6,929,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5134:Ipcef1
|
UTSW |
10 |
6,869,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5800:Ipcef1
|
UTSW |
10 |
6,840,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5938:Ipcef1
|
UTSW |
10 |
6,858,029 (GRCm39) |
unclassified |
probably benign |
|
|
R5989:Ipcef1
|
UTSW |
10 |
6,929,532 (GRCm39) |
nonsense |
probably null |
|
|
R7397:Ipcef1
|
UTSW |
10 |
6,922,244 (GRCm39) |
makesense |
probably null |
|
|
R7414:Ipcef1
|
UTSW |
10 |
6,840,673 (GRCm39) |
nonsense |
probably null |
|
|
R7425:Ipcef1
|
UTSW |
10 |
6,906,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7859:Ipcef1
|
UTSW |
10 |
6,840,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7966:Ipcef1
|
UTSW |
10 |
6,850,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Ipcef1
|
UTSW |
10 |
6,870,007 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8964:Ipcef1
|
UTSW |
10 |
6,869,789 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9276:Ipcef1
|
UTSW |
10 |
6,857,936 (GRCm39) |
unclassified |
probably benign |
|
|
R9280:Ipcef1
|
UTSW |
10 |
6,850,736 (GRCm39) |
missense |
probably benign |
0.42 |
|
R9359:Ipcef1
|
UTSW |
10 |
6,840,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9407:Ipcef1
|
UTSW |
10 |
6,870,036 (GRCm39) |
nonsense |
probably null |
|
|
R9526:Ipcef1
|
UTSW |
10 |
6,840,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2016-08-02 |
Incidental Mutation