Incidental Mutation 'R1161:Ipcef1'
| ID |
100417 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipcef1
|
| Ensembl Gene |
ENSMUSG00000064065 |
| Gene Name |
interaction protein for cytohesin exchange factors 1 |
| Synonyms |
A130090K04Rik |
| MMRRC Submission |
039234-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R1161 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to A
at 6930288 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000086896]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000151960]
[ENSMUST00000105617]
[ENSMUST00000145156]
[ENSMUST00000145156]
[ENSMUST00000145156]
[ENSMUST00000147171]
[ENSMUST00000123861]
[ENSMUST00000154941]
[ENSMUST00000135502]
[ENSMUST00000144264]
[ENSMUST00000129954]
[ENSMUST00000129221]
[ENSMUST00000170680]
|
| 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 null
Transcript: ENSMUST00000078070
|
| SMART Domains |
Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
| 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 benign
Transcript: ENSMUST00000086896
|
| SMART Domains |
Protein: ENSMUSP00000084110
Gene: ENSMUSG00000064065
| 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 benign
Transcript: ENSMUST00000151960
|
| SMART Domains |
Protein: ENSMUSP00000118510
Gene: ENSMUSG00000064065
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
36 |
98 |
4.1e-11 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105617
|
| SMART Domains |
Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
| 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 null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
probably null
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141897
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144622
|
| 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: 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: 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: 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: 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: ENSMUST00000170680
|
| SMART Domains |
Protein: ENSMUSP00000128131
Gene: ENSMUSG00000064065
| 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 |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.7%
- 20x: 89.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl10 |
T |
G |
3: 145,636,180 (GRCm39) |
V26G |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,948,567 (GRCm39) |
V1581A |
probably damaging |
Het |
| Camk1g |
T |
C |
1: 193,030,662 (GRCm39) |
D349G |
probably benign |
Het |
| Ccdc106 |
G |
A |
7: 5,062,539 (GRCm39) |
D11N |
possibly damaging |
Het |
| Ckap5 |
T |
G |
2: 91,429,720 (GRCm39) |
L1464R |
probably null |
Het |
| Def6 |
G |
A |
17: 28,436,593 (GRCm39) |
V86I |
probably benign |
Het |
| Dnm3 |
T |
A |
1: 162,181,143 (GRCm39) |
T179S |
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
| Eme1 |
G |
A |
11: 94,536,368 (GRCm39) |
R534C |
probably damaging |
Het |
| Fhip1a |
A |
G |
3: 85,579,775 (GRCm39) |
I810T |
probably damaging |
Het |
| Fzd3 |
G |
A |
14: 65,449,537 (GRCm39) |
R514C |
probably damaging |
Het |
| H2-T24 |
G |
T |
17: 36,325,888 (GRCm39) |
Y234* |
probably null |
Het |
| Ifit1bl1 |
A |
G |
19: 34,571,096 (GRCm39) |
S454P |
possibly damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,671 (GRCm39) |
R764C |
probably damaging |
Het |
| Or7e166 |
A |
G |
9: 19,624,476 (GRCm39) |
M118V |
probably damaging |
Het |
| Pde4c |
A |
G |
8: 71,202,572 (GRCm39) |
D592G |
possibly damaging |
Het |
| Prx |
T |
C |
7: 27,219,102 (GRCm39) |
F1340S |
probably damaging |
Het |
| Rgs7 |
T |
C |
1: 174,907,021 (GRCm39) |
T90A |
probably damaging |
Het |
| Scn11a |
C |
T |
9: 119,584,123 (GRCm39) |
W1497* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Srrm3 |
CAAGAAGAAGAAGAA |
CAAGAAGAAGAA |
5: 135,883,246 (GRCm39) |
|
probably benign |
Het |
| Svep1 |
T |
A |
4: 58,069,416 (GRCm39) |
Y2790F |
possibly damaging |
Het |
| Tmeff2 |
T |
C |
1: 51,220,946 (GRCm39) |
V307A |
probably damaging |
Het |
| Tmem38a |
T |
A |
8: 73,333,814 (GRCm39) |
F98I |
probably damaging |
Het |
| Trp73 |
A |
G |
4: 154,165,780 (GRCm39) |
|
probably null |
Het |
| Usp29 |
A |
G |
7: 6,964,529 (GRCm39) |
E124G |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation