Incidental Mutation 'R9407:Ipcef1'
| ID |
711599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipcef1
|
| Ensembl Gene |
ENSMUSG00000064065 |
| Gene Name |
interaction protein for cytohesin exchange factors 1 |
| Synonyms |
A130090K04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R9407 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 6870036 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 172
(C172*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000086896]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000105617]
[ENSMUST00000123861]
[ENSMUST00000129221]
[ENSMUST00000129954]
[ENSMUST00000135502]
[ENSMUST00000144264]
[ENSMUST00000145156]
[ENSMUST00000147171]
[ENSMUST00000154941]
[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
AA Change: C172*
|
| SMART Domains |
Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: C172*
| 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 null
Transcript: ENSMUST00000086896
AA Change: C121*
|
| SMART Domains |
Protein: ENSMUSP00000084110
Gene: ENSMUSG00000064065
AA Change: C121*
| 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 null
Transcript: ENSMUST00000105617
AA Change: C168*
|
| SMART Domains |
Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: C168*
| 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 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: 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: 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 null
Transcript: ENSMUST00000145156
AA Change: C191*
|
| SMART Domains |
Protein: ENSMUSP00000114267
Gene: ENSMUSG00000064065
AA Change: C191*
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
37 |
137 |
5.87e-20 |
SMART |
|
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
|
| 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: 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 null
Transcript: ENSMUST00000170680
AA Change: C121*
|
| SMART Domains |
Protein: ENSMUSP00000128131
Gene: ENSMUSG00000064065
AA Change: C121*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930578I06Rik |
T |
C |
14: 64,223,629 (GRCm39) |
Y49C |
probably damaging |
Het |
| Abca6 |
A |
T |
11: 110,093,210 (GRCm39) |
L1021* |
probably null |
Het |
| Abcc9 |
A |
G |
6: 142,574,229 (GRCm39) |
S1003P |
possibly damaging |
Het |
| Aldh4a1 |
A |
G |
4: 139,372,345 (GRCm39) |
I505V |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,803,693 (GRCm39) |
D2159G |
possibly damaging |
Het |
| C1s2 |
T |
C |
6: 124,602,454 (GRCm39) |
I586V |
probably benign |
Het |
| Cd300e |
C |
A |
11: 114,946,171 (GRCm39) |
D97Y |
probably damaging |
Het |
| Celsr3 |
A |
G |
9: 108,723,596 (GRCm39) |
D2877G |
probably damaging |
Het |
| Cep41 |
T |
C |
6: 30,655,841 (GRCm39) |
N328D |
probably benign |
Het |
| Cldn15 |
G |
A |
5: 137,003,765 (GRCm39) |
V227M |
probably damaging |
Het |
| Clec10a |
T |
G |
11: 70,060,155 (GRCm39) |
I98S |
probably damaging |
Het |
| Cpne4 |
A |
G |
9: 104,749,963 (GRCm39) |
Q89R |
probably damaging |
Het |
| Cryba2 |
C |
A |
1: 74,932,037 (GRCm39) |
A4S |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,442,613 (GRCm39) |
A3222T |
|
Het |
| Dapk1 |
C |
A |
13: 60,898,991 (GRCm39) |
Y820* |
probably null |
Het |
| Efcab5 |
G |
A |
11: 77,022,934 (GRCm39) |
T593I |
probably damaging |
Het |
| Entrep3 |
C |
A |
3: 89,094,645 (GRCm39) |
A416D |
possibly damaging |
Het |
| Gar1 |
A |
G |
3: 129,620,608 (GRCm39) |
Y160H |
probably damaging |
Het |
| Gm21834 |
T |
A |
17: 58,048,863 (GRCm39) |
I118L |
probably benign |
Het |
| Gtf2a1l |
G |
A |
17: 89,001,531 (GRCm39) |
G129D |
probably damaging |
Het |
| Gzmb |
T |
A |
14: 56,497,712 (GRCm39) |
Y176F |
probably benign |
Het |
| Helz2 |
T |
G |
2: 180,881,975 (GRCm39) |
K273Q |
probably benign |
Het |
| Ifi207 |
T |
A |
1: 173,555,234 (GRCm39) |
E816V |
probably damaging |
Het |
| Insr |
A |
C |
8: 3,235,106 (GRCm39) |
D694E |
probably benign |
Het |
| Insyn2b |
G |
A |
11: 34,352,072 (GRCm39) |
R38Q |
probably damaging |
Het |
| Itgal |
T |
G |
7: 126,921,796 (GRCm39) |
|
probably null |
Het |
| Laptm5 |
A |
T |
4: 130,655,990 (GRCm39) |
M103L |
|
Het |
| Lypd4 |
A |
T |
7: 24,566,160 (GRCm39) |
C55S |
probably null |
Het |
| Mccc1 |
A |
C |
3: 36,030,865 (GRCm39) |
H400Q |
possibly damaging |
Het |
| Myl4 |
C |
T |
11: 104,474,887 (GRCm39) |
R79W |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,709,596 (GRCm39) |
T569A |
probably benign |
Het |
| Or14a259 |
G |
C |
7: 86,013,194 (GRCm39) |
S117* |
probably null |
Het |
| Or4c117 |
T |
A |
2: 88,955,629 (GRCm39) |
T149S |
probably benign |
Het |
| Or5ak24 |
A |
G |
2: 85,261,060 (GRCm39) |
S38P |
probably damaging |
Het |
| Otof |
T |
A |
5: 30,538,265 (GRCm39) |
D1153V |
probably damaging |
Het |
| Pcdha12 |
A |
T |
18: 37,153,614 (GRCm39) |
D111V |
probably damaging |
Het |
| Pomt2 |
G |
T |
12: 87,157,146 (GRCm39) |
F724L |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 51,994,491 (GRCm39) |
Y1284F |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 113,034,224 (GRCm39) |
K301R |
possibly damaging |
Het |
| Slc30a5 |
T |
A |
13: 100,951,214 (GRCm39) |
R223* |
probably null |
Het |
| Slc35a1 |
A |
T |
4: 34,675,181 (GRCm39) |
V119E |
probably damaging |
Het |
| Slc6a11 |
A |
T |
6: 114,220,914 (GRCm39) |
I482F |
probably damaging |
Het |
| Tektl1 |
T |
C |
10: 78,583,128 (GRCm39) |
T419A |
probably damaging |
Het |
| Tgm1 |
A |
T |
14: 55,942,991 (GRCm39) |
C616* |
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,553,298 (GRCm39) |
I1125N |
probably damaging |
Het |
| Tln2 |
T |
C |
9: 67,136,732 (GRCm39) |
D1251G |
probably damaging |
Het |
| Tnfaip2 |
C |
G |
12: 111,412,161 (GRCm39) |
S187R |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,644,045 (GRCm39) |
Y4469C |
probably damaging |
Het |
| Vmn1r229 |
G |
C |
17: 21,035,259 (GRCm39) |
C168S |
probably damaging |
Het |
| Vmn2r53 |
A |
G |
7: 12,335,124 (GRCm39) |
S179P |
probably damaging |
Het |
| Zfp474 |
A |
C |
18: 52,771,502 (GRCm39) |
I52L |
probably benign |
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 |
|
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 |
|
R9526:Ipcef1
|
UTSW |
10 |
6,840,620 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTCTGAGAAGGCAAGTG -3'
(R):5'- ATACAGAATTGAGTGCCACACAG -3'
Sequencing Primer
(F):5'- GTGTGGACCTGCTCAGCAAATG -3'
(R):5'- GAATTGAGTGCCACACAGTTTTTCTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation