Incidental Mutation 'R6556:Fip1l1'
| ID |
522148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fip1l1
|
| Ensembl Gene |
ENSMUSG00000029227 |
| Gene Name |
factor interacting with PAPOLA and CPSF1 |
| Synonyms |
Rje, 1300019H17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R6556 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
74696110-74759461 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 74707838 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000120618]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080164
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
1.2e-28 |
PFAM |
|
low complexity region
|
296 |
357 |
N/A |
INTRINSIC |
|
low complexity region
|
405 |
441 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
507 |
N/A |
INTRINSIC |
|
low complexity region
|
510 |
523 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000113534
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
1.1e-28 |
PFAM |
|
low complexity region
|
270 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113535
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
6.4e-29 |
PFAM |
|
low complexity region
|
296 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
396 |
432 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
501 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113536
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
152 |
196 |
1.3e-28 |
PFAM |
|
low complexity region
|
247 |
267 |
N/A |
INTRINSIC |
|
low complexity region
|
332 |
393 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
489 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
559 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000120618
|
| SMART Domains |
Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
29 |
38 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
79 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
137 |
181 |
2e-29 |
PFAM |
|
low complexity region
|
255 |
275 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
401 |
N/A |
INTRINSIC |
|
low complexity region
|
449 |
485 |
N/A |
INTRINSIC |
|
low complexity region
|
497 |
551 |
N/A |
INTRINSIC |
|
low complexity region
|
554 |
567 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121950
|
| SMART Domains |
Protein: ENSMUSP00000113611
Gene: ENSMUSG00000029227
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
78 |
94 |
N/A |
INTRINSIC |
|
Pfam:Fip1
|
153 |
195 |
6.6e-29 |
PFAM |
|
low complexity region
|
270 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
355 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
455 |
491 |
N/A |
INTRINSIC |
|
low complexity region
|
503 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
560 |
573 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200979
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atosb |
C |
T |
4: 43,033,896 (GRCm39) |
R460H |
probably damaging |
Het |
| Atp2a1 |
G |
T |
7: 126,049,434 (GRCm39) |
P536Q |
probably benign |
Het |
| Bnip5 |
T |
A |
17: 29,123,585 (GRCm39) |
D114V |
probably damaging |
Het |
| Cabyr |
T |
A |
18: 12,884,073 (GRCm39) |
S187T |
probably benign |
Het |
| Camkk1 |
A |
T |
11: 72,924,696 (GRCm39) |
N303I |
probably benign |
Het |
| Cdh13 |
C |
T |
8: 119,694,926 (GRCm39) |
P259S |
probably damaging |
Het |
| Csnk1g3 |
A |
G |
18: 54,063,354 (GRCm39) |
D255G |
possibly damaging |
Het |
| Dennd5b |
A |
C |
6: 148,915,749 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
G |
10: 128,650,500 (GRCm39) |
D528G |
probably benign |
Het |
| Edem1 |
T |
C |
6: 108,831,318 (GRCm39) |
F593S |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,899,077 (GRCm39) |
N4343S |
probably null |
Het |
| Erbb2 |
G |
A |
11: 98,326,908 (GRCm39) |
D1106N |
possibly damaging |
Het |
| Ermp1 |
T |
C |
19: 29,590,321 (GRCm39) |
M794V |
possibly damaging |
Het |
| Gm20730 |
C |
T |
6: 43,058,476 (GRCm39) |
C112Y |
probably damaging |
Het |
| Gtf2h1 |
T |
A |
7: 46,458,089 (GRCm39) |
C245S |
probably damaging |
Het |
| Hdhd5 |
T |
C |
6: 120,500,515 (GRCm39) |
H61R |
probably benign |
Het |
| Ighv1-71 |
A |
T |
12: 115,706,092 (GRCm39) |
V31E |
probably damaging |
Het |
| Igsf9b |
T |
C |
9: 27,240,851 (GRCm39) |
F688S |
probably damaging |
Het |
| Iqcd |
T |
C |
5: 120,740,443 (GRCm39) |
V258A |
probably damaging |
Het |
| Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
| Lpo |
G |
T |
11: 87,708,589 (GRCm39) |
Y136* |
probably null |
Het |
| Med30 |
A |
G |
15: 52,593,779 (GRCm39) |
|
probably benign |
Het |
| Mertk |
T |
A |
2: 128,618,341 (GRCm39) |
V524D |
probably benign |
Het |
| Ndufb11b |
A |
G |
15: 81,864,939 (GRCm39) |
D60G |
probably damaging |
Het |
| Or4c126 |
T |
A |
2: 89,824,517 (GRCm39) |
F260Y |
probably benign |
Het |
| Or4c52 |
T |
C |
2: 89,845,438 (GRCm39) |
Y55H |
probably damaging |
Het |
| Or5l13 |
T |
C |
2: 87,780,320 (GRCm39) |
I86V |
probably benign |
Het |
| Pde6b |
T |
A |
5: 108,569,367 (GRCm39) |
M358K |
possibly damaging |
Het |
| Prep |
GA |
G |
10: 45,034,410 (GRCm39) |
|
probably null |
Het |
| Prpf4b |
G |
A |
13: 35,080,015 (GRCm39) |
R793Q |
probably damaging |
Het |
| Rela |
T |
A |
19: 5,697,366 (GRCm39) |
N524K |
probably damaging |
Het |
| Relch |
T |
A |
1: 105,654,165 (GRCm39) |
F845I |
probably damaging |
Het |
| Rnaset2a |
T |
C |
17: 8,360,480 (GRCm39) |
D74G |
probably damaging |
Het |
| Semp2l2a |
G |
A |
8: 13,887,690 (GRCm39) |
Q134* |
probably null |
Het |
| Serinc2 |
T |
A |
4: 130,152,064 (GRCm39) |
I267F |
probably damaging |
Het |
| Sesn3 |
T |
C |
9: 14,232,549 (GRCm39) |
F274S |
possibly damaging |
Het |
| Spag1 |
T |
C |
15: 36,195,553 (GRCm39) |
Y249H |
probably damaging |
Het |
| Sstr1 |
A |
T |
12: 58,260,478 (GRCm39) |
D367V |
possibly damaging |
Het |
| Tasor |
T |
G |
14: 27,151,215 (GRCm39) |
Y64D |
probably benign |
Het |
| Tnnt1 |
T |
C |
7: 4,512,576 (GRCm39) |
E110G |
probably damaging |
Het |
| Tpm1 |
T |
A |
9: 66,935,451 (GRCm39) |
|
probably null |
Het |
| Unc93b1 |
T |
C |
19: 3,994,105 (GRCm39) |
V412A |
probably benign |
Het |
| Uox |
G |
C |
3: 146,330,403 (GRCm39) |
|
probably null |
Het |
| Usp44 |
T |
C |
10: 93,681,870 (GRCm39) |
Y107H |
probably benign |
Het |
|
| Other mutations in Fip1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Fip1l1
|
APN |
5 |
74,747,726 (GRCm39) |
splice site |
probably benign |
|
|
IGL02008:Fip1l1
|
APN |
5 |
74,706,084 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL02069:Fip1l1
|
APN |
5 |
74,752,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02406:Fip1l1
|
APN |
5 |
74,725,205 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02514:Fip1l1
|
APN |
5 |
74,731,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03139:Fip1l1
|
APN |
5 |
74,731,776 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0031:Fip1l1
|
UTSW |
5 |
74,717,770 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0325:Fip1l1
|
UTSW |
5 |
74,756,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Fip1l1
|
UTSW |
5 |
74,756,503 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0834:Fip1l1
|
UTSW |
5 |
74,755,721 (GRCm39) |
unclassified |
probably benign |
|
|
R1183:Fip1l1
|
UTSW |
5 |
74,755,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1328:Fip1l1
|
UTSW |
5 |
74,706,796 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2434:Fip1l1
|
UTSW |
5 |
74,707,485 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4120:Fip1l1
|
UTSW |
5 |
74,748,852 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4197:Fip1l1
|
UTSW |
5 |
74,696,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4440:Fip1l1
|
UTSW |
5 |
74,697,446 (GRCm39) |
intron |
probably benign |
|
|
R4825:Fip1l1
|
UTSW |
5 |
74,748,866 (GRCm39) |
splice site |
probably null |
|
|
R4838:Fip1l1
|
UTSW |
5 |
74,752,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5800:Fip1l1
|
UTSW |
5 |
74,706,742 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R6159:Fip1l1
|
UTSW |
5 |
74,752,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6724:Fip1l1
|
UTSW |
5 |
74,752,435 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6984:Fip1l1
|
UTSW |
5 |
74,702,734 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7092:Fip1l1
|
UTSW |
5 |
74,697,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7205:Fip1l1
|
UTSW |
5 |
74,748,736 (GRCm39) |
splice site |
probably null |
|
|
R7325:Fip1l1
|
UTSW |
5 |
74,697,460 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7590:Fip1l1
|
UTSW |
5 |
74,752,435 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8182:Fip1l1
|
UTSW |
5 |
74,748,813 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8826:Fip1l1
|
UTSW |
5 |
74,725,188 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8905:Fip1l1
|
UTSW |
5 |
74,756,624 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8950:Fip1l1
|
UTSW |
5 |
74,756,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9154:Fip1l1
|
UTSW |
5 |
74,747,703 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9372:Fip1l1
|
UTSW |
5 |
74,707,463 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R9473:Fip1l1
|
UTSW |
5 |
74,745,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGCTAGCTGTAGGCCAC -3'
(R):5'- GTGCCACCTATAATCACAGCAGAG -3'
Sequencing Primer
(F):5'- CACAGCTAGTTACTATTAATGTGGCC -3'
(R):5'- GCAGACAACAGCTTTACTTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation