Incidental Mutation 'IGL02069:Fip1l1'
| ID |
185735 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02069
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
74696110-74759461 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 74752534 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 402
(D402G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109163
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039744]
[ENSMUST00000080164]
[ENSMUST00000087161]
[ENSMUST00000113531]
[ENSMUST00000113534]
[ENSMUST00000113535]
[ENSMUST00000113536]
[ENSMUST00000120618]
[ENSMUST00000127396]
|
| AlphaFold |
Q9D824 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039744
|
| SMART Domains |
Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
57 |
164 |
1e-33 |
BLAST |
|
PDZ
|
188 |
263 |
5.33e-19 |
SMART |
|
PDZ
|
295 |
368 |
2.27e-13 |
SMART |
|
PDZ
|
417 |
494 |
8.27e-16 |
SMART |
|
PDZ
|
547 |
624 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080164
AA Change: D411G
PolyPhen 2
Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000079059
Gene: ENSMUSG00000029227
AA Change: D411G
| 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 benign
Transcript: ENSMUST00000087161
|
| SMART Domains |
Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
45 |
82 |
5.82e-6 |
SMART |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
157 |
264 |
3e-33 |
BLAST |
|
PDZ
|
288 |
363 |
5.33e-19 |
SMART |
|
PDZ
|
395 |
468 |
2.27e-13 |
SMART |
|
PDZ
|
517 |
594 |
8.27e-16 |
SMART |
|
PDZ
|
647 |
724 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113531
|
| SMART Domains |
Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
2 |
105 |
2e-32 |
BLAST |
|
PDZ
|
129 |
204 |
5.33e-19 |
SMART |
|
PDZ
|
236 |
309 |
2.27e-13 |
SMART |
|
PDZ
|
358 |
435 |
8.27e-16 |
SMART |
|
PDZ
|
488 |
565 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000113534
AA Change: D461G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109162
Gene: ENSMUSG00000029227
AA Change: D461G
| 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: D402G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109163
Gene: ENSMUSG00000029227
AA Change: D402G
| 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
AA Change: D447G
PolyPhen 2
Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000109164
Gene: ENSMUSG00000029227
AA Change: D447G
| 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 benign
Transcript: ENSMUST00000121950
AA Change: D461G
PolyPhen 2
Score 0.140 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113611
Gene: ENSMUSG00000029227
AA Change: D461G
| 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: ENSMUST00000202499
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139697
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125129
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201310
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200787
|
| Predicted Effect |
probably benign
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 |
probably benign
Transcript: ENSMUST00000127396
|
| SMART Domains |
Protein: ENSMUSP00000120886
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
G |
A |
7: 78,742,500 (GRCm39) |
V569M |
possibly damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,805 (GRCm39) |
V2016A |
probably benign |
Het |
| Apcdd1 |
T |
A |
18: 63,083,054 (GRCm39) |
W295R |
probably damaging |
Het |
| Arid5b |
T |
A |
10: 67,933,229 (GRCm39) |
D648V |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,091,700 (GRCm39) |
|
probably benign |
Het |
| Cst12 |
A |
T |
2: 148,634,368 (GRCm39) |
D101V |
probably damaging |
Het |
| Cyp46a1 |
T |
A |
12: 108,312,394 (GRCm39) |
Y135N |
probably benign |
Het |
| D630045J12Rik |
T |
C |
6: 38,161,007 (GRCm39) |
S1046G |
probably damaging |
Het |
| Dhtkd1 |
A |
T |
2: 5,935,745 (GRCm39) |
Y122* |
probably null |
Het |
| Disp2 |
T |
A |
2: 118,621,161 (GRCm39) |
I631N |
possibly damaging |
Het |
| Dna2 |
A |
G |
10: 62,794,773 (GRCm39) |
I387V |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,601,053 (GRCm39) |
|
probably benign |
Het |
| Eif2ak3 |
T |
C |
6: 70,873,949 (GRCm39) |
F954S |
probably damaging |
Het |
| Elp1 |
C |
T |
4: 56,779,731 (GRCm39) |
G560D |
probably benign |
Het |
| Fancm |
C |
A |
12: 65,122,685 (GRCm39) |
A69D |
probably benign |
Het |
| Fbxo34 |
T |
A |
14: 47,767,070 (GRCm39) |
D143E |
probably damaging |
Het |
| Fchsd1 |
G |
A |
18: 38,100,667 (GRCm39) |
R144* |
probably null |
Het |
| Frem1 |
A |
G |
4: 82,821,788 (GRCm39) |
S2107P |
probably damaging |
Het |
| Gm1527 |
A |
G |
3: 28,980,763 (GRCm39) |
N621S |
possibly damaging |
Het |
| Hddc2 |
G |
A |
10: 31,192,314 (GRCm39) |
D54N |
probably damaging |
Het |
| Ighm |
T |
A |
12: 113,384,768 (GRCm39) |
|
probably benign |
Het |
| Il17d |
G |
T |
14: 57,779,972 (GRCm39) |
E165* |
probably null |
Het |
| Kmt5b |
A |
T |
19: 3,857,335 (GRCm39) |
K364M |
probably damaging |
Het |
| Ldb1 |
C |
A |
19: 46,021,617 (GRCm39) |
W390L |
possibly damaging |
Het |
| Lgmn |
T |
C |
12: 102,370,558 (GRCm39) |
E124G |
possibly damaging |
Het |
| Mroh2b |
A |
G |
15: 4,933,806 (GRCm39) |
|
probably benign |
Het |
| Pga5 |
C |
T |
19: 10,646,763 (GRCm39) |
G323S |
possibly damaging |
Het |
| Pkd1l3 |
A |
T |
8: 110,362,012 (GRCm39) |
N1018I |
probably damaging |
Het |
| Polr2b |
A |
G |
5: 77,491,044 (GRCm39) |
T962A |
probably benign |
Het |
| Ptger1 |
A |
G |
8: 84,396,086 (GRCm39) |
E381G |
probably benign |
Het |
| Sec24a |
A |
T |
11: 51,624,761 (GRCm39) |
|
probably benign |
Het |
| Serpine2 |
T |
A |
1: 79,799,129 (GRCm39) |
I42F |
possibly damaging |
Het |
| Sh3tc1 |
C |
T |
5: 35,876,339 (GRCm39) |
R122Q |
probably benign |
Het |
| Slc15a2 |
T |
C |
16: 36,579,613 (GRCm39) |
I347V |
probably benign |
Het |
| Snx4 |
T |
C |
16: 33,084,725 (GRCm39) |
Y80H |
probably damaging |
Het |
| Spata16 |
C |
A |
3: 26,786,944 (GRCm39) |
C207* |
probably null |
Het |
| Syne2 |
A |
G |
12: 75,974,186 (GRCm39) |
Q1128R |
probably benign |
Het |
| Tamalin |
A |
G |
15: 101,122,346 (GRCm39) |
Y55C |
probably damaging |
Het |
| Trpm4 |
T |
A |
7: 44,968,718 (GRCm39) |
N405I |
probably damaging |
Het |
| Upp2 |
A |
G |
2: 58,661,429 (GRCm39) |
|
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 |
|
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 |
|
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 |
2014-05-07 |
Incidental Mutation