Incidental Mutation 'R2434:Fip1l1'
| ID |
250521 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fip1l1
|
| Ensembl Gene |
ENSMUSG00000029227 |
| Gene Name |
factor interacting with PAPOLA and CPSF1 |
| Synonyms |
Rje, 1300019H17Rik |
| MMRRC Submission |
040395-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R2434 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
74696110-74759461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 74707485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 196
(T196K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000080164]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000120618]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000080164
AA Change: T211K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: T211K
| 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 |
possibly damaging
Transcript: ENSMUST00000113534
AA Change: T211K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: T211K
| 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 |
possibly damaging
Transcript: ENSMUST00000113535
AA Change: T211K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: T211K
| 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 |
possibly damaging
Transcript: ENSMUST00000113536
AA Change: T211K
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: T211K
| 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 |
possibly damaging
Transcript: ENSMUST00000120618
AA Change: T196K
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113995
Gene: ENSMUSG00000029227
AA Change: T196K
| 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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl5 |
A |
G |
5: 31,051,357 (GRCm39) |
Q493R |
probably damaging |
Het |
| Ank3 |
T |
C |
10: 69,837,948 (GRCm39) |
V785A |
probably damaging |
Het |
| Capsl |
A |
T |
15: 9,462,795 (GRCm39) |
H145L |
probably damaging |
Het |
| Carns1 |
A |
C |
19: 4,215,448 (GRCm39) |
C911W |
probably damaging |
Het |
| Celsr2 |
A |
C |
3: 108,311,795 (GRCm39) |
F1351V |
probably damaging |
Het |
| Cpne8 |
T |
C |
15: 90,393,714 (GRCm39) |
I432V |
probably benign |
Het |
| Cpxm1 |
A |
T |
2: 130,236,004 (GRCm39) |
I386N |
probably damaging |
Het |
| E2f5 |
T |
A |
3: 14,644,074 (GRCm39) |
D65E |
probably damaging |
Het |
| Eif3a |
T |
C |
19: 60,752,488 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
A |
G |
3: 87,164,005 (GRCm39) |
Y375H |
probably damaging |
Het |
| Fmo6 |
A |
T |
1: 162,744,439 (GRCm39) |
N484K |
probably benign |
Het |
| Foxred1 |
G |
T |
9: 35,116,954 (GRCm39) |
D345E |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,238,100 (GRCm39) |
N295K |
probably damaging |
Het |
| Gipc2 |
T |
A |
3: 151,843,317 (GRCm39) |
I107L |
probably benign |
Het |
| Kcnn1 |
GTCCTCCTCCTCCTCCTCCTC |
GTCCTCCTCCTCCTCCTC |
8: 71,307,810 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
T |
A |
10: 115,423,311 (GRCm39) |
I30L |
probably benign |
Het |
| Nbea |
A |
T |
3: 55,554,881 (GRCm39) |
V2589E |
possibly damaging |
Het |
| Ncam2 |
A |
T |
16: 81,392,113 (GRCm39) |
N699I |
probably benign |
Het |
| Nlrp1b |
T |
C |
11: 71,047,552 (GRCm39) |
|
probably null |
Het |
| Or11l3 |
A |
G |
11: 58,515,937 (GRCm39) |
Y312H |
possibly damaging |
Het |
| Rnasel |
T |
C |
1: 153,630,396 (GRCm39) |
V304A |
probably damaging |
Het |
| Serinc4 |
C |
T |
2: 121,286,186 (GRCm39) |
R134H |
probably benign |
Het |
| Sim1 |
T |
A |
10: 50,784,054 (GRCm39) |
Y103N |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,258,548 (GRCm39) |
|
probably null |
Het |
| Slc6a6 |
T |
A |
6: 91,712,193 (GRCm39) |
S241T |
probably benign |
Het |
| Son |
G |
T |
16: 91,451,575 (GRCm39) |
K107N |
probably damaging |
Het |
| St3gal6 |
T |
C |
16: 58,291,015 (GRCm39) |
T329A |
probably damaging |
Het |
| Stab2 |
G |
A |
10: 86,805,183 (GRCm39) |
P265L |
possibly damaging |
Het |
| Tmem199 |
G |
A |
11: 78,400,570 (GRCm39) |
T119I |
probably damaging |
Het |
| Ttc14 |
A |
G |
3: 33,855,227 (GRCm39) |
D125G |
probably benign |
Het |
| Vmn1r205 |
T |
A |
13: 22,776,524 (GRCm39) |
M193L |
probably benign |
Het |
| Vmn2r-ps158 |
A |
G |
7: 42,696,881 (GRCm39) |
Y646C |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCTATAATTTTGATGCTGCC -3'
(R):5'- GCCTACAGCTAGCTGATTACATACAG -3'
Sequencing Primer
(F):5'- AATTTTGATGCTGCCACAGAG -3'
(R):5'- CTGCTGTGCAGCATTTATC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation