Incidental Mutation 'R0031:Fip1l1'
| ID |
15354 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fip1l1
|
| Ensembl Gene |
ENSMUSG00000029227 |
| Gene Name |
factor interacting with PAPOLA and CPSF1 |
| Synonyms |
Rje, 1300019H17Rik |
| MMRRC Submission |
038325-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R0031 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
74696110-74759461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 74717770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 235
(S235P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000120618]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000080164
AA Change: S235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: S235P
| 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 damaging
Transcript: ENSMUST00000113534
AA Change: S258P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: S258P
| 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 damaging
Transcript: ENSMUST00000113535
AA Change: S235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: S235P
| 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 damaging
Transcript: ENSMUST00000113536
AA Change: S235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: S235P
| 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 damaging
Transcript: ENSMUST00000120618
AA Change: S243P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: S243P
| 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 |
|
| Meta Mutation Damage Score |
0.1350 |
| Coding Region Coverage |
- 1x: 81.0%
- 3x: 73.5%
- 10x: 52.2%
- 20x: 32.1%
|
| Validation Efficiency |
93% (95/102) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
G |
A |
2: 69,115,652 (GRCm39) |
R571C |
probably damaging |
Het |
| Agr3 |
T |
C |
12: 35,997,590 (GRCm39) |
M100T |
probably benign |
Het |
| Ankrd7 |
T |
A |
6: 18,870,007 (GRCm39) |
Y253* |
probably null |
Het |
| Atp2c2 |
A |
T |
8: 120,475,801 (GRCm39) |
T565S |
probably benign |
Het |
| Ccdc88b |
G |
T |
19: 6,831,151 (GRCm39) |
S597Y |
possibly damaging |
Het |
| Celsr2 |
T |
C |
3: 108,320,379 (GRCm39) |
N811S |
probably damaging |
Het |
| Cep170 |
A |
T |
1: 176,583,657 (GRCm39) |
D907E |
probably damaging |
Het |
| Cip2a |
C |
T |
16: 48,837,736 (GRCm39) |
S812F |
probably benign |
Het |
| Clstn1 |
G |
A |
4: 149,719,253 (GRCm39) |
V361M |
probably damaging |
Het |
| Cmss1 |
T |
G |
16: 57,131,612 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
C |
11: 12,204,945 (GRCm39) |
T579A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Csrp2 |
C |
T |
10: 110,774,601 (GRCm39) |
S172L |
probably benign |
Het |
| Gbgt1 |
T |
A |
2: 28,388,462 (GRCm39) |
|
probably benign |
Het |
| Gml2 |
T |
C |
15: 74,696,125 (GRCm39) |
I173T |
probably benign |
Het |
| Gucy2c |
T |
A |
6: 136,674,997 (GRCm39) |
I1005F |
probably damaging |
Het |
| Irak3 |
T |
A |
10: 120,012,225 (GRCm39) |
K88* |
probably null |
Het |
| Klc1 |
T |
C |
12: 111,743,467 (GRCm39) |
Y265H |
probably damaging |
Het |
| Lamb1 |
G |
A |
12: 31,351,155 (GRCm39) |
V754I |
probably benign |
Het |
| Lrguk |
A |
T |
6: 34,020,431 (GRCm39) |
Q58H |
probably damaging |
Het |
| Lyst |
A |
G |
13: 13,882,741 (GRCm39) |
D2902G |
probably benign |
Het |
| Mtpap |
T |
A |
18: 4,383,244 (GRCm39) |
I207N |
probably damaging |
Het |
| Ncdn |
A |
T |
4: 126,643,901 (GRCm39) |
|
probably null |
Het |
| Nup160 |
A |
G |
2: 90,547,931 (GRCm39) |
|
probably null |
Het |
| Ormdl1 |
A |
G |
1: 53,338,318 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
A |
G |
3: 122,596,704 (GRCm39) |
M432V |
probably benign |
Het |
| Pikfyve |
T |
A |
1: 65,255,088 (GRCm39) |
|
probably benign |
Het |
| Plcb2 |
A |
G |
2: 118,545,942 (GRCm39) |
V581A |
probably benign |
Het |
| Plpp6 |
T |
A |
19: 28,942,243 (GRCm39) |
N281K |
probably benign |
Het |
| Pwp1 |
T |
C |
10: 85,721,760 (GRCm39) |
I422T |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,367,103 (GRCm39) |
N1199S |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,726 (GRCm39) |
L406P |
probably damaging |
Het |
| Senp6 |
C |
T |
9: 80,033,525 (GRCm39) |
P84L |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,066,941 (GRCm39) |
I2361V |
probably benign |
Het |
| Slc25a12 |
C |
T |
2: 71,163,958 (GRCm39) |
V106M |
possibly damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,340,274 (GRCm39) |
Y232C |
probably damaging |
Het |
| Spata31g1 |
A |
T |
4: 42,973,712 (GRCm39) |
K1015M |
probably damaging |
Het |
| Taf1c |
A |
T |
8: 120,325,829 (GRCm39) |
C678S |
probably benign |
Het |
| Tcp11l2 |
G |
T |
10: 84,427,004 (GRCm39) |
C156F |
probably damaging |
Het |
| Tmem62 |
A |
G |
2: 120,829,594 (GRCm39) |
T316A |
probably benign |
Het |
| Ulk4 |
A |
G |
9: 121,102,048 (GRCm39) |
I10T |
probably damaging |
Het |
| Vps54 |
T |
C |
11: 21,262,899 (GRCm39) |
I824T |
probably damaging |
Het |
| Wdfy3 |
A |
T |
5: 102,037,161 (GRCm39) |
V2042E |
probably damaging |
Het |
| Wfdc6b |
A |
T |
2: 164,455,779 (GRCm39) |
E36V |
probably damaging |
Het |
| Xpc |
C |
T |
6: 91,468,208 (GRCm39) |
A860T |
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 |
|
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 |
|
R6556:Fip1l1
|
UTSW |
5 |
74,707,838 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
| Posted On |
2012-12-17 |
Incidental Mutation