Incidental Mutation 'R7966:Ipcef1'
| ID |
650380 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ipcef1
|
| Ensembl Gene |
ENSMUSG00000064065 |
| Gene Name |
interaction protein for cytohesin exchange factors 1 |
| Synonyms |
A130090K04Rik |
| MMRRC Submission |
046009-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.077)
|
| Stock # |
R7966 (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 6850668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 312
(T312A)
|
| 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: T312A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000077215
Gene: ENSMUSG00000064065
AA Change: T312A
| 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: T308A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101242
Gene: ENSMUSG00000064065
AA Change: T308A
| 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: 99.2%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
T |
12: 71,219,903 (GRCm39) |
I817L |
probably benign |
Het |
| Adcy8 |
A |
T |
15: 64,573,939 (GRCm39) |
W1055R |
probably damaging |
Het |
| Anks4b |
A |
G |
7: 119,781,923 (GRCm39) |
E318G |
probably benign |
Het |
| Arid3a |
A |
G |
10: 79,767,889 (GRCm39) |
T229A |
probably benign |
Het |
| Cckar |
T |
C |
5: 53,858,580 (GRCm39) |
K247E |
possibly damaging |
Het |
| Cfap52 |
A |
T |
11: 67,844,571 (GRCm39) |
|
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,363,449 (GRCm39) |
V538A |
probably damaging |
Het |
| Cped1 |
T |
C |
6: 22,059,953 (GRCm39) |
|
probably null |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Cyp4v3 |
G |
T |
8: 45,785,954 (GRCm39) |
A21E |
probably benign |
Het |
| Cytip |
T |
C |
2: 58,037,944 (GRCm39) |
E140G |
probably damaging |
Het |
| D130043K22Rik |
A |
C |
13: 25,077,406 (GRCm39) |
Q1013P |
probably damaging |
Het |
| Dpp6 |
A |
G |
5: 27,928,370 (GRCm39) |
M763V |
probably benign |
Het |
| Eps15 |
T |
A |
4: 109,178,340 (GRCm39) |
Y193N |
probably damaging |
Het |
| Ghrhr |
T |
C |
6: 55,356,083 (GRCm39) |
W59R |
probably damaging |
Het |
| Hdac4 |
A |
G |
1: 91,861,402 (GRCm39) |
V1056A |
possibly damaging |
Het |
| Itpr3 |
T |
C |
17: 27,331,002 (GRCm39) |
|
probably null |
Het |
| Kif6 |
A |
G |
17: 49,993,453 (GRCm39) |
I182V |
probably damaging |
Het |
| Lcn3 |
A |
G |
2: 25,656,389 (GRCm39) |
K90E |
probably damaging |
Het |
| Lig3 |
T |
C |
11: 82,681,342 (GRCm39) |
S446P |
probably damaging |
Het |
| Ncln |
G |
A |
10: 81,326,103 (GRCm39) |
Q283* |
probably null |
Het |
| Nlrp4c |
A |
G |
7: 6,069,322 (GRCm39) |
T408A |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,962 (GRCm39) |
F346L |
probably damaging |
Het |
| Olig2 |
AGCCGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
AGCCGCCGCCGCCGCAGCCGCCGCCGCCGC |
16: 91,023,962 (GRCm39) |
|
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,356 (GRCm39) |
Y290* |
probably null |
Het |
| Or52b4 |
T |
C |
7: 102,184,623 (GRCm39) |
I223T |
probably damaging |
Het |
| Or52s1b |
A |
T |
7: 102,822,062 (GRCm39) |
F261I |
probably damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,536 (GRCm39) |
I246V |
probably benign |
Het |
| Pdcd1 |
A |
T |
1: 93,969,186 (GRCm39) |
V44E |
probably damaging |
Het |
| Prdm13 |
A |
T |
4: 21,679,932 (GRCm39) |
I186N |
unknown |
Het |
| Prpf4b |
A |
G |
13: 35,085,428 (GRCm39) |
D958G |
probably damaging |
Het |
| Prss59 |
A |
T |
6: 40,903,022 (GRCm39) |
Y117N |
probably benign |
Het |
| Prune2 |
A |
G |
19: 17,156,223 (GRCm39) |
N2792S |
probably damaging |
Het |
| Robo1 |
T |
A |
16: 72,780,760 (GRCm39) |
I830N |
possibly damaging |
Het |
| Scaper |
A |
G |
9: 55,669,611 (GRCm39) |
V355A |
probably damaging |
Het |
| Scn3b |
C |
T |
9: 40,193,846 (GRCm39) |
A191V |
probably benign |
Het |
| Slc13a3 |
G |
C |
2: 165,272,155 (GRCm39) |
S296C |
probably benign |
Het |
| Slc6a16 |
T |
A |
7: 44,917,477 (GRCm39) |
I445N |
possibly damaging |
Het |
| Snrnp35 |
A |
G |
5: 124,628,565 (GRCm39) |
Y126C |
possibly damaging |
Het |
| Spock2 |
A |
G |
10: 59,957,554 (GRCm39) |
H98R |
possibly damaging |
Het |
| Sptssb |
A |
T |
3: 69,728,286 (GRCm39) |
Y50* |
probably null |
Het |
| Syne1 |
A |
G |
10: 5,066,965 (GRCm39) |
|
probably null |
Het |
| Tcf21 |
T |
C |
10: 22,695,706 (GRCm39) |
T33A |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,306,258 (GRCm39) |
F57L |
probably damaging |
Het |
| Tgs1 |
C |
A |
4: 3,586,215 (GRCm39) |
P364H |
probably benign |
Het |
| Tmem242 |
A |
G |
17: 5,461,711 (GRCm39) |
I119T |
probably benign |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Vmn2r3 |
T |
A |
3: 64,186,235 (GRCm39) |
N150I |
probably damaging |
Het |
| Vmn2r69 |
A |
G |
7: 85,060,762 (GRCm39) |
I274T |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,616,304 (GRCm39) |
L1206* |
probably null |
Het |
| Zfp157 |
T |
A |
5: 138,445,833 (GRCm39) |
W63R |
probably benign |
Het |
| Zfp455 |
T |
C |
13: 67,347,302 (GRCm39) |
Y10H |
probably benign |
Het |
| Zfp654 |
T |
C |
16: 64,605,239 (GRCm39) |
T447A |
probably damaging |
Het |
| Zhx2 |
T |
C |
15: 57,685,063 (GRCm39) |
I144T |
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 |
|
|
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 |
|
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'- AGGTCACAGGCATCATGATG -3'
(R):5'- GGACCACAGTGTCTGATGTTC -3'
Sequencing Primer
(F):5'- AGCACTCTAAGATGGCCTTG -3'
(R):5'- ATGTTCACTCTTTGGTTGTAATCAGC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation