Incidental Mutation 'R9280:Ipcef1'
| ID |
703572 |
| 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: 0.077)
|
| Stock # |
R9280 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 6850736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 289
(E289G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000077215
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052751]
[ENSMUST00000063036]
[ENSMUST00000078070]
[ENSMUST00000105601]
[ENSMUST00000105611]
[ENSMUST00000105615]
[ENSMUST00000105617]
[ENSMUST00000123861]
[ENSMUST00000129221]
[ENSMUST00000129954]
[ENSMUST00000135502]
[ENSMUST00000144264]
[ENSMUST00000147171]
[ENSMUST00000154941]
|
| 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 benign
Transcript: ENSMUST00000078070
AA Change: E289G
PolyPhen 2
Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: E289G
| 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: E285G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: E285G
| 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 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 |
|
| Meta Mutation Damage Score |
0.1456 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (63/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
G |
T |
6: 125,039,938 (GRCm39) |
V514L |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,573 (GRCm39) |
I965M |
probably damaging |
Het |
| Ank3 |
A |
T |
10: 69,818,021 (GRCm39) |
S1468C |
possibly damaging |
Het |
| Aoc1l1 |
A |
G |
6: 48,955,116 (GRCm39) |
D652G |
possibly damaging |
Het |
| Apobec3 |
A |
C |
15: 79,791,082 (GRCm39) |
N392T |
|
Het |
| Ccdc33 |
A |
T |
9: 57,965,549 (GRCm39) |
M591K |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,870,153 (GRCm39) |
E689G |
probably damaging |
Het |
| Cnot1 |
A |
T |
8: 96,497,227 (GRCm39) |
M250K |
probably benign |
Het |
| Crppa |
T |
A |
12: 36,571,975 (GRCm39) |
S344R |
probably benign |
Het |
| Ctbs |
A |
T |
3: 146,160,142 (GRCm39) |
Y57F |
probably damaging |
Het |
| Dchs2 |
A |
G |
3: 83,189,255 (GRCm39) |
I1540V |
possibly damaging |
Het |
| Dnah8 |
A |
T |
17: 31,004,071 (GRCm39) |
Q3651H |
possibly damaging |
Het |
| Eif2a |
A |
G |
3: 58,447,009 (GRCm39) |
|
probably benign |
Het |
| Entpd2 |
A |
G |
2: 25,289,511 (GRCm39) |
N331S |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,314,774 (GRCm39) |
P168S |
probably damaging |
Het |
| Fam76b |
A |
T |
9: 13,751,012 (GRCm39) |
H302L |
possibly damaging |
Het |
| Fancm |
A |
G |
12: 65,153,612 (GRCm39) |
E1356G |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,201,523 (GRCm39) |
T517I |
probably benign |
Het |
| Glul |
T |
C |
1: 153,783,611 (GRCm39) |
C269R |
probably benign |
Het |
| Gm3404 |
C |
T |
5: 146,462,756 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Grb7 |
T |
C |
11: 98,345,248 (GRCm39) |
F435S |
probably damaging |
Het |
| Ide |
A |
T |
19: 37,295,490 (GRCm39) |
Y191N |
|
Het |
| Ide |
T |
C |
19: 37,307,801 (GRCm39) |
|
probably benign |
Het |
| Ighv6-3 |
T |
A |
12: 114,355,420 (GRCm39) |
T90S |
probably damaging |
Het |
| Il23r |
A |
G |
6: 67,429,410 (GRCm39) |
C311R |
probably damaging |
Het |
| Ilf2 |
A |
G |
3: 90,394,922 (GRCm39) |
E390G |
unknown |
Het |
| Ints1 |
C |
T |
5: 139,750,469 (GRCm39) |
C896Y |
probably damaging |
Het |
| Kbtbd2 |
G |
A |
6: 56,755,997 (GRCm39) |
R580W |
probably damaging |
Het |
| Kif21b |
T |
C |
1: 136,099,445 (GRCm39) |
|
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mmp27 |
A |
T |
9: 7,579,812 (GRCm39) |
I429L |
probably benign |
Het |
| Mmp8 |
A |
G |
9: 7,567,292 (GRCm39) |
D431G |
possibly damaging |
Het |
| Mpeg1 |
A |
G |
19: 12,439,828 (GRCm39) |
T429A |
probably benign |
Het |
| Mterf1a |
A |
T |
5: 3,941,539 (GRCm39) |
Y110N |
probably damaging |
Het |
| Myh4 |
G |
A |
11: 67,146,135 (GRCm39) |
A1398T |
probably damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,635,973 (GRCm39) |
M358K |
probably benign |
Het |
| Nup50l |
A |
C |
6: 96,141,982 (GRCm39) |
L354R |
probably damaging |
Het |
| Or5d14 |
A |
T |
2: 87,880,458 (GRCm39) |
F170Y |
probably damaging |
Het |
| Or5g25 |
G |
A |
2: 85,478,504 (GRCm39) |
R54* |
probably null |
Het |
| Or7e173 |
A |
C |
9: 19,938,639 (GRCm39) |
S198R |
probably benign |
Het |
| Otof |
A |
G |
5: 30,528,894 (GRCm39) |
F1838S |
probably damaging |
Het |
| Pappa2 |
G |
A |
1: 158,675,533 (GRCm39) |
T1071I |
possibly damaging |
Het |
| Pcdhb15 |
A |
G |
18: 37,607,794 (GRCm39) |
D342G |
probably damaging |
Het |
| Pcdhgb7 |
T |
C |
18: 37,886,585 (GRCm39) |
L585P |
probably damaging |
Het |
| Pde1c |
A |
T |
6: 56,114,505 (GRCm39) |
S469R |
probably benign |
Het |
| Pla2g6 |
A |
G |
15: 79,197,314 (GRCm39) |
F87L |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,460,145 (GRCm39) |
M152L |
probably benign |
Het |
| Rasa1 |
C |
T |
13: 85,436,732 (GRCm39) |
A99T |
unknown |
Het |
| Rasgrp1 |
T |
C |
2: 117,113,132 (GRCm39) |
N760S |
probably benign |
Het |
| Rgsl1 |
A |
T |
1: 153,669,898 (GRCm39) |
M232K |
probably benign |
Het |
| Ryr1 |
G |
A |
7: 28,802,389 (GRCm39) |
H744Y |
probably damaging |
Het |
| Slc1a4 |
A |
G |
11: 20,282,325 (GRCm39) |
S50P |
probably damaging |
Het |
| Slc25a36 |
A |
C |
9: 96,982,233 (GRCm39) |
L34R |
probably damaging |
Het |
| Slc39a12 |
A |
T |
2: 14,401,003 (GRCm39) |
I127F |
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,939,978 (GRCm39) |
L175P |
possibly damaging |
Het |
| Sntb1 |
T |
C |
15: 55,769,771 (GRCm39) |
T73A |
probably benign |
Het |
| Tbc1d14 |
T |
C |
5: 36,680,268 (GRCm39) |
|
probably benign |
Het |
| Tll2 |
T |
A |
19: 41,077,309 (GRCm39) |
E819V |
possibly damaging |
Het |
| Trappc13 |
C |
T |
13: 104,290,809 (GRCm39) |
A181T |
probably benign |
Het |
| Trbj1-1 |
A |
G |
6: 41,510,830 (GRCm39) |
R11G |
|
Het |
| Ubash3b |
A |
C |
9: 41,072,877 (GRCm39) |
I12S |
unknown |
Het |
| Usp37 |
T |
C |
1: 74,489,699 (GRCm39) |
K828E |
probably damaging |
Het |
| Usp8 |
G |
C |
2: 126,561,944 (GRCm39) |
S46T |
unknown |
Het |
| Zfp418 |
A |
G |
7: 7,184,408 (GRCm39) |
T124A |
possibly damaging |
Het |
| Zfp87 |
T |
C |
13: 74,520,803 (GRCm39) |
T92A |
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 |
|
|
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'- GTTTACAAGCTAAGCCCACCTC -3'
(R):5'- TAGCCTCCTGAGTAGCATCATG -3'
Sequencing Primer
(F):5'- CACCTTTAATGTGCTGTTCAGG -3'
(R):5'- GCCTCCTGAGTAGCATCATGATATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation