Incidental Mutation 'R5989:Ipcef1'
ID |
481886 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipcef1
|
Ensembl Gene |
ENSMUSG00000064065 |
Gene Name |
interaction protein for cytohesin exchange factors 1 |
Synonyms |
A130090K04Rik |
MMRRC Submission |
044169-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R5989 (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 6929532 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 69
(Y69*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118510
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000086896]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000145156]
[ENSMUST00000105617]
[ENSMUST00000151960]
[ENSMUST00000135502]
[ENSMUST00000129954]
[ENSMUST00000154941]
[ENSMUST00000123861]
[ENSMUST00000144264]
[ENSMUST00000129221]
[ENSMUST00000147171]
[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: Y47*
|
SMART Domains |
Protein: ENSMUSP00000077215 Gene: ENSMUSG00000064065 AA Change: Y47*
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 null
Transcript: ENSMUST00000145156
AA Change: Y70*
|
SMART Domains |
Protein: ENSMUSP00000114267 Gene: ENSMUSG00000064065 AA Change: Y70*
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: ENSMUST00000105617
AA Change: Y47*
|
SMART Domains |
Protein: ENSMUSP00000101242 Gene: ENSMUSG00000064065 AA Change: Y47*
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: ENSMUST00000151960
AA Change: Y69*
|
SMART Domains |
Protein: ENSMUSP00000118510 Gene: ENSMUSG00000064065 AA Change: Y69*
Domain | Start | End | E-Value | Type |
Pfam:PH
|
36 |
98 |
4.1e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144622
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141897
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149708
|
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: 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: 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: 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: 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: 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: 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: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 26 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cartpt |
T |
A |
13: 100,035,492 (GRCm39) |
I109F |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,454,160 (GRCm39) |
P3562L |
possibly damaging |
Het |
Cyp2c40 |
T |
C |
19: 39,796,024 (GRCm39) |
D118G |
probably benign |
Het |
Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
Drgx |
A |
G |
14: 32,330,145 (GRCm39) |
N116S |
probably benign |
Het |
Ebf1 |
G |
T |
11: 44,886,998 (GRCm39) |
C565F |
probably damaging |
Het |
Ggnbp1 |
A |
G |
17: 27,248,721 (GRCm39) |
R97G |
probably benign |
Het |
Gm10271 |
A |
T |
10: 116,808,497 (GRCm39) |
F6L |
probably damaging |
Het |
Gm42417 |
A |
G |
1: 36,571,273 (GRCm39) |
F183L |
probably damaging |
Het |
Lcp1 |
A |
T |
14: 75,436,827 (GRCm39) |
M58L |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,480,098 (GRCm39) |
T55A |
probably damaging |
Het |
Nefm |
A |
G |
14: 68,361,778 (GRCm39) |
V162A |
probably benign |
Het |
Nmral1 |
G |
A |
16: 4,536,902 (GRCm39) |
|
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,697 (GRCm39) |
W50R |
probably benign |
Het |
Panx2 |
T |
C |
15: 88,944,455 (GRCm39) |
L60P |
probably damaging |
Het |
Prkag3 |
T |
C |
1: 74,780,433 (GRCm39) |
N411D |
probably benign |
Het |
Ramacl |
G |
A |
13: 67,056,050 (GRCm39) |
M14I |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rttn |
G |
A |
18: 88,991,750 (GRCm39) |
D110N |
probably damaging |
Het |
Sfta2 |
G |
T |
17: 35,960,672 (GRCm39) |
|
probably benign |
Het |
Slc17a3 |
A |
G |
13: 24,026,411 (GRCm39) |
|
probably benign |
Het |
Spem1 |
G |
A |
11: 69,711,951 (GRCm39) |
P238S |
possibly damaging |
Het |
Tmem200c |
G |
T |
17: 69,144,431 (GRCm39) |
|
probably benign |
Het |
Trpm2 |
A |
G |
10: 77,795,734 (GRCm39) |
F131S |
probably damaging |
Het |
Vps51 |
A |
G |
19: 6,126,402 (GRCm39) |
S117P |
probably damaging |
Het |
Zbtb21 |
G |
A |
16: 97,752,699 (GRCm39) |
P556L |
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 |
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 |
|
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'- AGATGGCTTCTCCCGAACAG -3'
(R):5'- ATTTTGTCACCTGAGTCCGG -3'
Sequencing Primer
(F):5'- GCACAGCTCATTAACCTACATGG -3'
(R):5'- GGGTCACACTCACCTGTCCATG -3'
|
Posted On |
2017-06-26 |