Incidental Mutation 'R0206:Ipcef1'
ID |
35471 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipcef1
|
Ensembl Gene |
ENSMUSG00000064065 |
Gene Name |
interaction protein for cytohesin exchange factors 1 |
Synonyms |
A130090K04Rik |
MMRRC Submission |
038459-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R0206 (G1)
|
Quality Score |
82 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 6870062 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 113
(S113P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128131
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000086896]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000105617]
[ENSMUST00000145156]
[ENSMUST00000170680]
[ENSMUST00000129954]
[ENSMUST00000147171]
[ENSMUST00000123861]
[ENSMUST00000129221]
[ENSMUST00000135502]
[ENSMUST00000144264]
[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 |
possibly damaging
Transcript: ENSMUST00000078070
AA Change: S164P
PolyPhen 2
Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000077215 Gene: ENSMUSG00000064065 AA Change: S164P
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: S113P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000084110 Gene: ENSMUSG00000064065 AA Change: S113P
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 |
noncoding transcript
Transcript: ENSMUST00000149708
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105617
AA Change: S160P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101242 Gene: ENSMUSG00000064065 AA Change: S160P
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 |
possibly damaging
Transcript: ENSMUST00000145156
AA Change: S183P
PolyPhen 2
Score 0.585 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000114267 Gene: ENSMUSG00000064065 AA Change: S183P
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: ENSMUST00000154998
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170680
AA Change: S113P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128131 Gene: ENSMUSG00000064065 AA Change: S113P
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: ENSMUST00000141897
|
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: 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: 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: 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: 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: 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 |
|
Meta Mutation Damage Score |
0.1099 |
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.6%
- 20x: 89.0%
|
Validation Efficiency |
99% (83/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
Aadacl2fm1 |
C |
T |
3: 59,840,110 (GRCm39) |
R61C |
probably damaging |
Het |
Acsl5 |
A |
G |
19: 55,269,001 (GRCm39) |
K221E |
probably benign |
Het |
Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
Adgrb2 |
T |
C |
4: 129,886,352 (GRCm39) |
L164P |
probably damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
Arhgef5 |
A |
G |
6: 43,250,275 (GRCm39) |
E342G |
probably damaging |
Het |
Btbd8 |
A |
G |
5: 107,652,906 (GRCm39) |
T304A |
probably benign |
Het |
Cacna1b |
A |
G |
2: 24,497,492 (GRCm39) |
S2140P |
probably damaging |
Het |
Camsap2 |
G |
C |
1: 136,208,738 (GRCm39) |
P918R |
probably damaging |
Het |
Cdca3 |
C |
T |
6: 124,809,514 (GRCm39) |
|
probably benign |
Het |
Cenpj |
G |
T |
14: 56,801,427 (GRCm39) |
A182E |
probably benign |
Het |
Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Csgalnact2 |
T |
G |
6: 118,091,347 (GRCm39) |
Q197P |
probably benign |
Het |
D630045J12Rik |
A |
G |
6: 38,116,385 (GRCm39) |
M1745T |
probably damaging |
Het |
Ddt |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
Dock3 |
G |
T |
9: 106,874,195 (GRCm39) |
Y425* |
probably null |
Het |
Eng |
A |
T |
2: 32,569,005 (GRCm39) |
T511S |
probably benign |
Het |
Gabra6 |
C |
T |
11: 42,207,906 (GRCm39) |
W188* |
probably null |
Het |
Gnptab |
A |
T |
10: 88,275,372 (GRCm39) |
H1111L |
probably damaging |
Het |
H2-M10.4 |
A |
G |
17: 36,771,375 (GRCm39) |
W268R |
probably damaging |
Het |
Hrct1 |
C |
A |
4: 43,727,384 (GRCm39) |
T8K |
possibly damaging |
Het |
Il2ra |
T |
C |
2: 11,686,828 (GRCm39) |
|
probably benign |
Het |
Inhca |
A |
G |
9: 103,159,861 (GRCm39) |
C5R |
probably damaging |
Het |
Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
Kctd8 |
A |
T |
5: 69,498,508 (GRCm39) |
V46E |
probably damaging |
Het |
Klk1b9 |
T |
A |
7: 43,628,854 (GRCm39) |
N119K |
possibly damaging |
Het |
Krtap9-3 |
C |
A |
11: 99,488,663 (GRCm39) |
C73F |
probably damaging |
Het |
Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Med13 |
A |
G |
11: 86,191,682 (GRCm39) |
|
probably benign |
Het |
Mvk |
C |
T |
5: 114,597,035 (GRCm39) |
T334M |
probably damaging |
Het |
Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
Nr2f2 |
G |
C |
7: 70,009,923 (GRCm39) |
P52R |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Or2ag12 |
A |
G |
7: 106,276,781 (GRCm39) |
V304A |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,623,240 (GRCm39) |
I190T |
possibly damaging |
Het |
Pgbd1 |
A |
C |
13: 21,618,651 (GRCm39) |
L2R |
probably damaging |
Het |
Pkp4 |
A |
G |
2: 59,096,780 (GRCm39) |
I61V |
probably damaging |
Het |
Pold4 |
T |
G |
19: 4,282,593 (GRCm39) |
Y58* |
probably null |
Het |
Pomgnt1 |
T |
C |
4: 116,015,757 (GRCm39) |
|
probably null |
Het |
Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
Psmd1 |
T |
C |
1: 86,061,463 (GRCm39) |
V891A |
possibly damaging |
Het |
Psme3ip1 |
A |
G |
8: 95,314,639 (GRCm39) |
F73S |
probably damaging |
Het |
Rlig1 |
T |
A |
10: 100,422,056 (GRCm39) |
K69* |
probably null |
Het |
Rmdn2 |
T |
A |
17: 79,957,716 (GRCm39) |
|
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,691,137 (GRCm39) |
|
probably benign |
Het |
Scgb2b27 |
C |
A |
7: 33,711,562 (GRCm39) |
E96* |
probably null |
Het |
Sec16b |
G |
T |
1: 157,380,505 (GRCm39) |
G359* |
probably null |
Het |
Slc1a3 |
A |
G |
15: 8,738,040 (GRCm39) |
|
probably benign |
Het |
Slc28a1 |
A |
T |
7: 80,767,454 (GRCm39) |
|
probably benign |
Het |
Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
Snx33 |
G |
A |
9: 56,833,508 (GRCm39) |
S187L |
probably damaging |
Het |
Spg11 |
C |
T |
2: 121,886,177 (GRCm39) |
|
probably null |
Het |
Spint1 |
T |
C |
2: 119,078,826 (GRCm39) |
|
probably benign |
Het |
Spta1 |
A |
G |
1: 174,020,526 (GRCm39) |
H545R |
probably damaging |
Het |
Tinag |
A |
G |
9: 76,907,134 (GRCm39) |
I367T |
probably damaging |
Het |
Tln1 |
C |
T |
4: 43,549,151 (GRCm39) |
V644M |
probably damaging |
Het |
Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
Ube4b |
T |
C |
4: 149,483,094 (GRCm39) |
H58R |
probably benign |
Het |
Ush2a |
A |
C |
1: 188,263,958 (GRCm39) |
I1612L |
probably damaging |
Het |
Usp28 |
A |
G |
9: 48,939,569 (GRCm39) |
Y275C |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,846,444 (GRCm39) |
|
probably benign |
Het |
Vwf |
T |
C |
6: 125,614,419 (GRCm39) |
F1100S |
probably damaging |
Het |
Zfp318 |
G |
T |
17: 46,709,945 (GRCm39) |
R556L |
probably benign |
Het |
Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
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 |
|
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTGGACCTGCTCAGCAAATG -3'
(R):5'- AGGCTCTTCGAGAATGGCCCTTAG -3'
Sequencing Primer
(F):5'- CCTGCTCAGCAAATGTGAGG -3'
(R):5'- GTTGCCATACAGAATTGAGTGCC -3'
|
Posted On |
2013-05-09 |