Incidental Mutation 'IGL01018:Ipcef1'
ID |
53819 |
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: 0.093)
|
Stock # |
IGL01018
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6869968 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 144
(R144Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000086896]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105617]
[ENSMUST00000145156]
[ENSMUST00000123861]
[ENSMUST00000129954]
[ENSMUST00000135502]
[ENSMUST00000105615]
[ENSMUST00000147171]
[ENSMUST00000144264]
[ENSMUST00000129221]
[ENSMUST00000170680]
[ENSMUST00000154941]
|
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 |
probably damaging
Transcript: ENSMUST00000078070
AA Change: R195Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000077215 Gene: ENSMUSG00000064065 AA Change: R195Q
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: R144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084110 Gene: ENSMUSG00000064065 AA Change: R144Q
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 damaging
Transcript: ENSMUST00000105617
AA Change: R191Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101242 Gene: ENSMUSG00000064065 AA Change: R191Q
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: ENSMUST00000145156
AA Change: R214Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114267 Gene: ENSMUSG00000064065 AA Change: R214Q
Domain | Start | End | E-Value | Type |
PH
|
37 |
137 |
5.87e-20 |
SMART |
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149708
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144622
|
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: 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: 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: 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 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: 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 damaging
Transcript: ENSMUST00000170680
AA Change: R144Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128131 Gene: ENSMUSG00000064065 AA Change: R144Q
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: ENSMUST00000154998
|
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
5530400C23Rik |
G |
T |
6: 133,271,460 (GRCm39) |
R168I |
probably benign |
Het |
5530400C23Rik |
A |
T |
6: 133,271,461 (GRCm39) |
R168S |
probably benign |
Het |
Armt1 |
T |
A |
10: 4,400,732 (GRCm39) |
S160T |
probably benign |
Het |
Armt1 |
C |
T |
10: 4,404,237 (GRCm39) |
|
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,462,788 (GRCm39) |
W35R |
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,464,114 (GRCm39) |
V31A |
probably benign |
Het |
Ccdc170 |
G |
T |
10: 4,464,155 (GRCm39) |
A99S |
probably benign |
Het |
Glp2r |
C |
A |
11: 67,600,470 (GRCm39) |
V460F |
probably benign |
Het |
Gm21411 |
C |
T |
4: 146,977,067 (GRCm39) |
S69N |
possibly damaging |
Het |
Gm21411 |
T |
C |
4: 146,977,034 (GRCm39) |
Q80R |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,418,856 (GRCm38) |
P24L |
probably benign |
Het |
H2-M10.6 |
C |
T |
17: 37,123,112 (GRCm39) |
A15V |
probably benign |
Het |
H60c |
T |
C |
10: 3,209,766 (GRCm39) |
M174V |
probably benign |
Het |
H60c |
A |
C |
10: 3,210,343 (GRCm39) |
F69V |
probably benign |
Het |
Mapk8ip3 |
T |
G |
17: 25,118,693 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,982,345 (GRCm39) |
|
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,928,708 (GRCm39) |
V100A |
probably benign |
Het |
Mthfd1l |
T |
C |
10: 3,957,800 (GRCm39) |
V279A |
probably benign |
Het |
Mtrf1l |
A |
G |
10: 5,764,180 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
C |
5: 112,957,613 (GRCm39) |
E1450G |
probably damaging |
Het |
Obscn |
C |
T |
11: 59,018,895 (GRCm39) |
V973M |
probably damaging |
Het |
Oprm1 |
T |
C |
10: 6,987,170 (GRCm39) |
|
probably benign |
Het |
Or6p1 |
G |
A |
1: 174,258,908 (GRCm39) |
V305I |
probably benign |
Het |
Pou5f2 |
A |
G |
13: 78,174,057 (GRCm39) |
|
probably benign |
Het |
Ralgapa2 |
G |
A |
2: 146,252,113 (GRCm39) |
H891Y |
probably benign |
Het |
Ralgapa2 |
T |
G |
2: 146,252,112 (GRCm39) |
H806P |
probably benign |
Het |
Rmnd1 |
A |
G |
10: 4,377,392 (GRCm39) |
W96R |
probably benign |
Het |
Rmnd1 |
A |
T |
10: 4,377,290 (GRCm39) |
S130T |
probably benign |
Het |
Spata31e2 |
T |
C |
1: 26,721,991 (GRCm39) |
E1063G |
probably damaging |
Het |
Speer4a3 |
G |
T |
5: 26,155,721 (GRCm39) |
H208N |
probably benign |
Het |
Trappc12 |
A |
C |
12: 28,741,853 (GRCm39) |
|
probably benign |
Het |
Ulbp3 |
G |
A |
10: 3,075,031 (GRCm39) |
|
noncoding transcript |
Het |
Ulbp3 |
C |
T |
10: 3,075,193 (GRCm39) |
|
noncoding transcript |
Het |
Ulbp3 |
A |
G |
10: 3,070,231 (GRCm39) |
|
noncoding transcript |
Het |
Ulbp3 |
A |
G |
10: 3,070,209 (GRCm39) |
|
noncoding transcript |
Het |
Vip |
A |
G |
10: 5,592,480 (GRCm39) |
D40G |
probably benign |
Het |
Vmn2r125 |
C |
A |
4: 156,703,194 (GRCm39) |
Q191K |
probably benign |
Het |
Vmn2r125 |
A |
C |
4: 156,703,195 (GRCm39) |
Q191P |
probably benign |
Het |
Vmn2r125 |
A |
T |
4: 156,703,332 (GRCm39) |
T237S |
probably benign |
Het |
Vmn2r125 |
A |
G |
4: 156,703,140 (GRCm39) |
N173D |
probably damaging |
Het |
Vmn2r125 |
T |
C |
4: 156,702,907 (GRCm39) |
|
probably benign |
Het |
Vmn2r125 |
T |
A |
4: 156,703,521 (GRCm39) |
L300M |
probably benign |
Het |
Vmn2r125 |
C |
T |
4: 156,703,333 (GRCm39) |
T237I |
probably benign |
Het |
Vmn2r129 |
C |
A |
4: 156,690,730 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
A |
T |
4: 156,690,441 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
G |
A |
4: 156,686,900 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
C |
4: 156,687,885 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r129 |
T |
C |
4: 156,686,558 (GRCm39) |
|
noncoding transcript |
Het |
Vmn2r40 |
G |
A |
7: 8,911,175 (GRCm39) |
S706F |
probably damaging |
Het |
Zfp14 |
T |
A |
7: 29,737,526 (GRCm39) |
R486S |
probably damaging |
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 |
|
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 |
IGL03095:Ipcef1
|
APN |
10 |
6,869,732 (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 |
2013-06-28 |