Incidental Mutation 'IGL01295:Ipcef1'
| ID |
73074 |
| 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: 0.077)
|
| Stock # |
IGL01295
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 6850642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 316
(F316L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101242
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000105617]
[ENSMUST00000129954]
[ENSMUST00000144264]
[ENSMUST00000123861]
[ENSMUST00000147171]
[ENSMUST00000154941]
[ENSMUST00000129221]
[ENSMUST00000135502]
|
| 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: F320L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: F320L
| 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: 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 damaging
Transcript: ENSMUST00000105617
AA Change: F316L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: F316L
| 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 |
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: 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: 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: 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 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
G |
T |
14: 32,383,893 (GRCm39) |
L691I |
possibly damaging |
Het |
| Ano7 |
A |
G |
1: 93,308,200 (GRCm39) |
D77G |
probably benign |
Het |
| Apol10b |
A |
T |
15: 77,469,796 (GRCm39) |
V127E |
probably damaging |
Het |
| Apol11b |
G |
A |
15: 77,522,219 (GRCm39) |
T26M |
probably damaging |
Het |
| Atn1 |
T |
C |
6: 124,726,239 (GRCm39) |
E80G |
probably damaging |
Het |
| Carmil2 |
T |
C |
8: 106,422,148 (GRCm39) |
M1139T |
probably benign |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Celf5 |
G |
T |
10: 81,302,914 (GRCm39) |
|
probably benign |
Het |
| Chd6 |
G |
A |
2: 160,830,290 (GRCm39) |
|
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,551,208 (GRCm39) |
V2136E |
probably damaging |
Het |
| Col4a1 |
G |
T |
8: 11,286,075 (GRCm39) |
|
probably benign |
Het |
| Dph1 |
A |
G |
11: 75,071,775 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
T |
11: 69,900,410 (GRCm39) |
V735F |
possibly damaging |
Het |
| Eif3b |
A |
G |
5: 140,427,495 (GRCm39) |
I709V |
possibly damaging |
Het |
| Elp5 |
C |
T |
11: 69,859,296 (GRCm39) |
|
probably benign |
Het |
| Exd1 |
A |
T |
2: 119,360,560 (GRCm39) |
|
probably benign |
Het |
| Fbxl4 |
C |
A |
4: 22,427,348 (GRCm39) |
R530S |
probably benign |
Het |
| Fmo4 |
A |
T |
1: 162,626,693 (GRCm39) |
D284E |
probably damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,380 (GRCm39) |
Y31C |
probably damaging |
Het |
| Galnt14 |
G |
T |
17: 73,811,914 (GRCm39) |
Q436K |
probably benign |
Het |
| Gm5114 |
A |
T |
7: 39,057,241 (GRCm39) |
W793R |
probably damaging |
Het |
| Gm9376 |
T |
G |
14: 118,505,059 (GRCm39) |
S164A |
possibly damaging |
Het |
| Gtf2ird2 |
G |
A |
5: 134,221,603 (GRCm39) |
D69N |
probably damaging |
Het |
| Hfm1 |
A |
C |
5: 107,065,472 (GRCm39) |
M69R |
possibly damaging |
Het |
| Ighv9-1 |
A |
C |
12: 114,057,619 (GRCm39) |
S94A |
probably damaging |
Het |
| Ikzf2 |
C |
T |
1: 69,617,146 (GRCm39) |
R67H |
probably benign |
Het |
| Kdsr |
A |
G |
1: 106,683,187 (GRCm39) |
V62A |
possibly damaging |
Het |
| Kif23 |
A |
T |
9: 61,839,411 (GRCm39) |
C279S |
possibly damaging |
Het |
| Klf5 |
C |
T |
14: 99,539,157 (GRCm39) |
T110I |
probably benign |
Het |
| Klhl25 |
T |
A |
7: 75,515,620 (GRCm39) |
H175Q |
probably benign |
Het |
| Malrd1 |
G |
A |
2: 16,106,768 (GRCm39) |
|
probably null |
Het |
| Nfatc4 |
T |
C |
14: 56,069,962 (GRCm39) |
V710A |
probably benign |
Het |
| Optn |
G |
A |
2: 5,037,967 (GRCm39) |
T409I |
possibly damaging |
Het |
| Or10j3b |
A |
T |
1: 173,043,440 (GRCm39) |
Y74F |
probably damaging |
Het |
| Or52a5 |
C |
T |
7: 103,427,448 (GRCm39) |
V35I |
probably benign |
Het |
| Pabpc2 |
T |
A |
18: 39,907,082 (GRCm39) |
Y116N |
probably damaging |
Het |
| Pafah1b1 |
G |
T |
11: 74,574,473 (GRCm39) |
R238S |
probably damaging |
Het |
| Pdzd9 |
C |
T |
7: 120,267,618 (GRCm39) |
G66R |
probably damaging |
Het |
| Pih1d1 |
T |
C |
7: 44,809,388 (GRCm39) |
L285P |
probably damaging |
Het |
| Pirb |
G |
A |
7: 3,720,405 (GRCm39) |
P323S |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,883,685 (GRCm39) |
F396L |
possibly damaging |
Het |
| Pla2g4d |
G |
A |
2: 120,112,207 (GRCm39) |
T108M |
probably damaging |
Het |
| Plin3 |
T |
C |
17: 56,586,814 (GRCm39) |
Y411C |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,346,746 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
T |
C |
1: 162,510,061 (GRCm39) |
S995G |
probably damaging |
Het |
| Ptf1a |
T |
C |
2: 19,451,429 (GRCm39) |
I253T |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,198,553 (GRCm39) |
I1684V |
probably benign |
Het |
| Ptprk |
G |
A |
10: 28,351,174 (GRCm39) |
V556I |
probably benign |
Het |
| Rffl |
A |
T |
11: 82,709,283 (GRCm39) |
C47S |
probably damaging |
Het |
| Rnf17 |
C |
T |
14: 56,700,521 (GRCm39) |
Q569* |
probably null |
Het |
| Shprh |
A |
G |
10: 11,059,612 (GRCm39) |
E1121G |
probably damaging |
Het |
| Slc1a5 |
A |
G |
7: 16,529,787 (GRCm39) |
D402G |
probably damaging |
Het |
| Slc24a3 |
G |
A |
2: 145,458,634 (GRCm39) |
|
probably null |
Het |
| Slc2a13 |
T |
A |
15: 91,234,335 (GRCm39) |
|
probably null |
Het |
| Slc30a8 |
A |
T |
15: 52,169,955 (GRCm39) |
N61Y |
possibly damaging |
Het |
| Slitrk6 |
A |
T |
14: 110,988,868 (GRCm39) |
S280T |
possibly damaging |
Het |
| Smad2 |
G |
A |
18: 76,435,501 (GRCm39) |
A365T |
probably benign |
Het |
| Tcp10b |
C |
T |
17: 13,299,047 (GRCm39) |
P367S |
probably damaging |
Het |
| Tdp1 |
A |
G |
12: 99,857,929 (GRCm39) |
N163D |
probably benign |
Het |
| Thbs1 |
A |
G |
2: 117,948,808 (GRCm39) |
D488G |
possibly damaging |
Het |
| Trappc12 |
C |
T |
12: 28,796,761 (GRCm39) |
S257N |
probably damaging |
Het |
| Treml1 |
T |
C |
17: 48,672,627 (GRCm39) |
|
probably benign |
Het |
| Ugt2b36 |
A |
G |
5: 87,228,744 (GRCm39) |
V234A |
probably damaging |
Het |
| Vmn2r86 |
T |
G |
10: 130,288,895 (GRCm39) |
H202P |
probably damaging |
Het |
| Vmn2r87 |
C |
A |
10: 130,307,878 (GRCm39) |
V787F |
probably damaging |
Het |
| Wbp2nl |
T |
A |
15: 82,190,619 (GRCm39) |
M129K |
probably damaging |
Het |
| Zdhhc15 |
T |
C |
X: 103,588,519 (GRCm39) |
|
probably null |
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 |
|
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 |
2013-10-07 |
Incidental Mutation