Incidental Mutation 'R7859:Ipcef1'
ID |
607368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ipcef1
|
Ensembl Gene |
ENSMUSG00000064065 |
Gene Name |
interaction protein for cytohesin exchange factors 1 |
Synonyms |
A130090K04Rik |
MMRRC Submission |
045912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.093)
|
Stock # |
R7859 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 6840569 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 376
(D376V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101242
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000105617]
[ENSMUST00000129221]
[ENSMUST00000144264]
[ENSMUST00000154941]
[ENSMUST00000135502]
[ENSMUST00000123861]
[ENSMUST00000147171]
[ENSMUST00000129954]
|
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: D380V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000077215 Gene: ENSMUSG00000064065 AA Change: D380V
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: D376V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101242 Gene: ENSMUSG00000064065 AA Change: D376V
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: 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: 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 |
|
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: 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: 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 |
|
Meta Mutation Damage Score |
0.2501 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca3 |
T |
C |
17: 24,603,500 (GRCm39) |
L564P |
probably damaging |
Het |
Arsb |
T |
A |
13: 93,998,615 (GRCm39) |
S308T |
probably benign |
Het |
Atxn10 |
A |
G |
15: 85,346,526 (GRCm39) |
D428G |
probably benign |
Het |
BB014433 |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTACACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
GCACACAGCTTTGGAGGTGTACACACCCGGGTTGGGGCCTCTGCACACAGCTTTGG |
8: 15,092,160 (GRCm39) |
|
probably benign |
Het |
Cd300a |
T |
C |
11: 114,784,165 (GRCm39) |
Y58H |
probably benign |
Het |
Cemip2 |
T |
A |
19: 21,809,539 (GRCm39) |
I973N |
possibly damaging |
Het |
Crkl |
T |
A |
16: 17,286,960 (GRCm39) |
M172K |
probably damaging |
Het |
Cyfip1 |
T |
C |
7: 55,549,774 (GRCm39) |
I647T |
probably damaging |
Het |
Dlgap1 |
A |
G |
17: 70,823,683 (GRCm39) |
T223A |
probably benign |
Het |
Dmtf1 |
T |
C |
5: 9,178,044 (GRCm39) |
S372G |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,160,934 (GRCm39) |
V1814M |
probably damaging |
Het |
Dusp22 |
A |
C |
13: 30,892,737 (GRCm39) |
K171N |
probably benign |
Het |
Evi2a |
T |
C |
11: 79,418,452 (GRCm39) |
S53G |
probably benign |
Het |
Kndc1 |
A |
T |
7: 139,500,880 (GRCm39) |
D723V |
possibly damaging |
Het |
Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
Mcur1 |
G |
A |
13: 43,713,485 (GRCm39) |
R40* |
probably null |
Het |
Mgam |
T |
A |
6: 40,717,113 (GRCm39) |
N265K |
possibly damaging |
Het |
Muc6 |
G |
A |
7: 141,231,687 (GRCm39) |
T1069I |
probably damaging |
Het |
Myh2 |
T |
C |
11: 67,077,526 (GRCm39) |
L887P |
probably damaging |
Het |
Myo1d |
T |
G |
11: 80,575,203 (GRCm39) |
D171A |
probably damaging |
Het |
Nat2 |
T |
A |
8: 67,954,002 (GRCm39) |
F37L |
probably damaging |
Het |
Nkx2-2 |
A |
G |
2: 147,019,730 (GRCm39) |
C236R |
unknown |
Het |
Nrl |
G |
A |
14: 55,759,582 (GRCm39) |
S115L |
probably benign |
Het |
Nrsn1 |
A |
C |
13: 25,446,254 (GRCm39) |
S41A |
probably damaging |
Het |
Or5b12 |
T |
A |
19: 12,897,346 (GRCm39) |
E109V |
probably damaging |
Het |
Pax8 |
T |
A |
2: 24,311,567 (GRCm39) |
H456L |
possibly damaging |
Het |
Pkd1 |
T |
A |
17: 24,790,254 (GRCm39) |
I979K |
probably damaging |
Het |
Prex2 |
A |
G |
1: 11,150,274 (GRCm39) |
N149D |
probably damaging |
Het |
Psg28 |
A |
T |
7: 18,160,149 (GRCm39) |
V349D |
probably damaging |
Het |
Ptpro |
G |
A |
6: 137,369,805 (GRCm39) |
|
probably null |
Het |
Sema4d |
T |
A |
13: 51,876,387 (GRCm39) |
K94N |
probably benign |
Het |
Slc22a22 |
A |
T |
15: 57,114,348 (GRCm39) |
D326E |
probably benign |
Het |
Slc25a29 |
G |
A |
12: 108,792,756 (GRCm39) |
T274I |
probably benign |
Het |
Slc43a1 |
T |
C |
2: 84,687,220 (GRCm39) |
F374L |
possibly damaging |
Het |
Syne1 |
G |
T |
10: 5,107,683 (GRCm39) |
Q520K |
possibly damaging |
Het |
Taar4 |
T |
C |
10: 23,837,032 (GRCm39) |
V214A |
probably benign |
Het |
Tex22 |
T |
A |
12: 113,052,103 (GRCm39) |
C54S |
possibly damaging |
Het |
Tpo |
T |
A |
12: 30,150,573 (GRCm39) |
I436F |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,743,415 (GRCm39) |
H507R |
possibly damaging |
Het |
Usp54 |
T |
C |
14: 20,638,204 (GRCm39) |
E255G |
probably benign |
Het |
Vmn2r109 |
G |
T |
17: 20,761,436 (GRCm39) |
F640L |
probably damaging |
Het |
Vmn2r124 |
A |
G |
17: 18,282,212 (GRCm39) |
Y80C |
probably damaging |
Het |
Vmn2r27 |
A |
T |
6: 124,201,201 (GRCm39) |
I252K |
probably benign |
Het |
Zfp457 |
A |
G |
13: 67,454,445 (GRCm39) |
|
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 |
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'- AGCAGAATGAATGCCCTTGG -3'
(R):5'- ATTGGTAGTGTTGCAGCCCATG -3'
Sequencing Primer
(F):5'- CCTTGGCAGCATCCTGTAGAATG -3'
(R):5'- TCCCCATGTCTGTGAAAGGG -3'
|
Posted On |
2019-12-20 |