Incidental Mutation 'R9359:Ipcef1'
ID |
708584 |
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 # |
R9359 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
6835779-6973185 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6840663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 349
(D349N)
|
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 damaging
Transcript: ENSMUST00000078070
AA Change: D349N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077215 Gene: ENSMUSG00000064065 AA Change: D349N
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: D345N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101242 Gene: ENSMUSG00000064065 AA Change: D345N
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Angpt4 |
C |
T |
2: 151,780,892 (GRCm39) |
T380M |
probably damaging |
Het |
Ankrd50 |
A |
T |
3: 38,537,172 (GRCm39) |
N60K |
probably damaging |
Het |
Atp6v0a4 |
G |
A |
6: 38,059,048 (GRCm39) |
T245I |
probably benign |
Het |
Calcoco2 |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
TCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC |
11: 95,990,862 (GRCm39) |
|
probably null |
Het |
Cyp2j13 |
T |
C |
4: 95,950,170 (GRCm39) |
D277G |
probably damaging |
Het |
Def8 |
A |
T |
8: 124,185,105 (GRCm39) |
I310F |
probably benign |
Het |
Dmtf1 |
A |
G |
5: 9,171,927 (GRCm39) |
L503S |
possibly damaging |
Het |
Dock1 |
T |
C |
7: 134,770,125 (GRCm39) |
V1795A |
probably benign |
Het |
Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
Gabbr1 |
A |
G |
17: 37,381,605 (GRCm39) |
T790A |
probably damaging |
Het |
Glg1 |
C |
T |
8: 111,914,425 (GRCm39) |
R453Q |
probably benign |
Het |
Gm10549 |
C |
T |
18: 33,597,375 (GRCm39) |
P54S |
unknown |
Het |
Gpld1 |
G |
A |
13: 25,163,712 (GRCm39) |
V502I |
probably benign |
Het |
Ifnar1 |
C |
T |
16: 91,292,367 (GRCm39) |
P207L |
probably benign |
Het |
Inhba |
A |
G |
13: 16,191,966 (GRCm39) |
H29R |
probably benign |
Het |
Insr |
G |
C |
8: 3,208,717 (GRCm39) |
P1248R |
probably damaging |
Het |
Itga4 |
T |
A |
2: 79,156,004 (GRCm39) |
I990N |
possibly damaging |
Het |
Malrd1 |
T |
C |
2: 15,618,988 (GRCm39) |
V284A |
|
Het |
Maml2 |
C |
T |
9: 13,532,969 (GRCm39) |
Q728* |
probably null |
Het |
Mex3d |
A |
T |
10: 80,217,581 (GRCm39) |
N545K |
|
Het |
Mios |
T |
A |
6: 8,214,894 (GRCm39) |
V30E |
probably benign |
Het |
Muc16 |
A |
G |
9: 18,449,060 (GRCm39) |
|
probably null |
Het |
Naxd |
A |
G |
8: 11,562,968 (GRCm39) |
K303E |
possibly damaging |
Het |
Or2w1 |
T |
C |
13: 21,317,865 (GRCm39) |
F307L |
probably benign |
Het |
Or4l1 |
T |
C |
14: 50,166,906 (GRCm39) |
T32A |
probably benign |
Het |
Or5a21 |
T |
A |
19: 12,310,803 (GRCm39) |
H139L |
possibly damaging |
Het |
Or9q2 |
C |
T |
19: 13,772,200 (GRCm39) |
M258I |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,883 (GRCm39) |
|
probably benign |
Het |
Pknox1 |
C |
T |
17: 31,822,229 (GRCm39) |
T332M |
possibly damaging |
Het |
Ptgdr |
A |
G |
14: 45,090,715 (GRCm39) |
S348P |
|
Het |
Ptpdc1 |
T |
A |
13: 48,740,030 (GRCm39) |
E467V |
probably benign |
Het |
Qsox1 |
A |
G |
1: 155,658,343 (GRCm39) |
S409P |
probably damaging |
Het |
Rfx4 |
A |
G |
10: 84,740,921 (GRCm39) |
T680A |
probably benign |
Het |
Slc30a5 |
T |
C |
13: 100,949,970 (GRCm39) |
T371A |
probably damaging |
Het |
Slc5a7 |
A |
T |
17: 54,583,669 (GRCm39) |
N540K |
probably benign |
Het |
Slco6c1 |
A |
T |
1: 96,990,248 (GRCm39) |
S664R |
possibly damaging |
Het |
Tbxa2r |
A |
G |
10: 81,168,958 (GRCm39) |
S216G |
probably damaging |
Het |
Tgm4 |
C |
A |
9: 122,881,837 (GRCm39) |
S344R |
probably damaging |
Het |
Thoc6 |
A |
G |
17: 23,887,823 (GRCm39) |
V328A |
possibly damaging |
Het |
Trim61 |
T |
A |
8: 65,467,228 (GRCm39) |
Q11L |
probably damaging |
Het |
Txndc2 |
G |
A |
17: 65,944,992 (GRCm39) |
T395I |
probably damaging |
Het |
Txndc9 |
T |
C |
1: 38,034,859 (GRCm39) |
E15G |
probably benign |
Het |
Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
Uspl1 |
G |
A |
5: 149,146,481 (GRCm39) |
V411M |
probably damaging |
Het |
Vcpip1 |
A |
G |
1: 9,816,049 (GRCm39) |
I778T |
possibly damaging |
Het |
Vps54 |
A |
G |
11: 21,242,108 (GRCm39) |
T408A |
probably benign |
Het |
Wscd1 |
T |
C |
11: 71,650,799 (GRCm39) |
L42P |
possibly 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 |
|
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 |
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'- GCATCTGCTCAAAGAGAATTTTCC -3'
(R):5'- GCTTCTTATGGCTCCCACAG -3'
Sequencing Primer
(F):5'- TTTTCCACACAATCAGAAGACGTGG -3'
(R):5'- TGACCTCAGGCGTGTTGC -3'
|
Posted On |
2022-04-18 |