Incidental Mutation 'IGL02401:Lrrfip1'
| ID |
291891 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrrfip1
|
| Ensembl Gene |
ENSMUSG00000026305 |
| Gene Name |
leucine rich repeat (in FLII) interacting protein 1 |
| Synonyms |
FLAP (FLI LRR associated protein), Fliiap1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02401
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91042650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 352
(S352P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095254
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068116]
[ENSMUST00000068167]
[ENSMUST00000097649]
[ENSMUST00000097650]
[ENSMUST00000185531]
[ENSMUST00000189617]
|
| AlphaFold |
Q3UZ39 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068116
|
| SMART Domains |
Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
33 |
354 |
4.1e-133 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000068167
|
| SMART Domains |
Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
23 |
123 |
2.2e-18 |
PFAM |
|
Pfam:DUF2051
|
193 |
387 |
2.5e-49 |
PFAM |
|
Pfam:DUF2051
|
366 |
553 |
8.1e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097649
AA Change: S352P
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: S352P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
23 |
327 |
1.3e-87 |
PFAM |
|
internal_repeat_2
|
439 |
528 |
6e-5 |
PROSPERO |
|
low complexity region
|
550 |
566 |
N/A |
INTRINSIC |
|
internal_repeat_2
|
575 |
683 |
6e-5 |
PROSPERO |
|
internal_repeat_1
|
647 |
715 |
1.05e-5 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000097650
|
| SMART Domains |
Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
23 |
120 |
2.3e-16 |
PFAM |
|
Pfam:DUF2051
|
195 |
368 |
1.2e-63 |
PFAM |
|
Pfam:DUF2051
|
379 |
554 |
1.8e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185531
|
| SMART Domains |
Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
33 |
118 |
1.2e-12 |
PFAM |
|
low complexity region
|
138 |
158 |
N/A |
INTRINSIC |
|
Pfam:DUF2051
|
231 |
413 |
3.7e-60 |
PFAM |
|
Pfam:DUF2051
|
424 |
575 |
1.3e-32 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189617
|
| SMART Domains |
Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
23 |
108 |
1.4e-12 |
PFAM |
|
low complexity region
|
128 |
148 |
N/A |
INTRINSIC |
|
Pfam:DUF2051
|
229 |
403 |
1.2e-60 |
PFAM |
|
Pfam:DUF2051
|
414 |
589 |
1.8e-44 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef18 |
C |
T |
8: 3,487,078 (GRCm39) |
R266C |
probably damaging |
Het |
| Asb11 |
A |
T |
X: 163,241,753 (GRCm39) |
|
probably benign |
Het |
| Cnot1 |
G |
A |
8: 96,482,761 (GRCm39) |
T764M |
possibly damaging |
Het |
| Galns |
A |
G |
8: 123,331,938 (GRCm39) |
M59T |
probably damaging |
Het |
| Gm5884 |
A |
G |
6: 128,622,377 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9312 |
A |
C |
12: 24,302,106 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
T |
C |
18: 12,690,784 (GRCm39) |
F1268S |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,643,585 (GRCm39) |
C1347R |
probably damaging |
Het |
| Mcfd2 |
T |
C |
17: 87,564,592 (GRCm39) |
T97A |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,929,983 (GRCm39) |
N23S |
possibly damaging |
Het |
| Nr1i3 |
A |
T |
1: 171,043,942 (GRCm39) |
|
probably benign |
Het |
| Or4c10b |
T |
C |
2: 89,711,797 (GRCm39) |
F209S |
probably damaging |
Het |
| Or8b48 |
C |
T |
9: 38,492,651 (GRCm39) |
P26L |
probably damaging |
Het |
| Orm2 |
A |
C |
4: 63,281,568 (GRCm39) |
I100L |
probably benign |
Het |
| Pbsn |
A |
G |
X: 76,886,129 (GRCm39) |
M126T |
probably benign |
Het |
| Rpgr |
G |
T |
X: 10,024,956 (GRCm39) |
T1026K |
possibly damaging |
Het |
| Sdhaf3 |
C |
T |
6: 7,038,855 (GRCm39) |
T59M |
probably benign |
Het |
| Shq1 |
T |
C |
6: 100,625,208 (GRCm39) |
Y217C |
probably damaging |
Het |
| Slc17a8 |
A |
T |
10: 89,412,522 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
A |
G |
13: 73,848,709 (GRCm39) |
I15T |
probably damaging |
Het |
| Smarcd3 |
A |
T |
5: 24,798,717 (GRCm39) |
V335E |
probably damaging |
Het |
| Sugp2 |
A |
G |
8: 70,695,821 (GRCm39) |
T265A |
possibly damaging |
Het |
| Tfrc |
T |
G |
16: 32,435,999 (GRCm39) |
S225R |
probably damaging |
Het |
| Vsig10l |
T |
A |
7: 43,113,468 (GRCm39) |
L140Q |
probably damaging |
Het |
| Zbtb46 |
T |
A |
2: 181,065,245 (GRCm39) |
T302S |
probably benign |
Het |
| Znhit1 |
T |
C |
5: 137,011,513 (GRCm39) |
Y105C |
probably damaging |
Het |
|
| Other mutations in Lrrfip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00331:Lrrfip1
|
APN |
1 |
90,996,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00835:Lrrfip1
|
APN |
1 |
91,043,140 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL01603:Lrrfip1
|
APN |
1 |
91,043,635 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02261:Lrrfip1
|
APN |
1 |
91,039,890 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02690:Lrrfip1
|
APN |
1 |
90,981,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0048:Lrrfip1
|
UTSW |
1 |
91,021,369 (GRCm39) |
splice site |
probably benign |
|
|
R0048:Lrrfip1
|
UTSW |
1 |
91,021,369 (GRCm39) |
splice site |
probably benign |
|
|
R0891:Lrrfip1
|
UTSW |
1 |
90,996,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1210:Lrrfip1
|
UTSW |
1 |
91,042,915 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1352:Lrrfip1
|
UTSW |
1 |
91,043,089 (GRCm39) |
missense |
probably benign |
|
|
R1488:Lrrfip1
|
UTSW |
1 |
91,042,354 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1600:Lrrfip1
|
UTSW |
1 |
91,042,389 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1718:Lrrfip1
|
UTSW |
1 |
91,043,277 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2056:Lrrfip1
|
UTSW |
1 |
91,043,539 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2993:Lrrfip1
|
UTSW |
1 |
91,032,956 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3782:Lrrfip1
|
UTSW |
1 |
91,039,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4191:Lrrfip1
|
UTSW |
1 |
91,038,121 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4675:Lrrfip1
|
UTSW |
1 |
91,031,042 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4732:Lrrfip1
|
UTSW |
1 |
91,043,369 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4733:Lrrfip1
|
UTSW |
1 |
91,043,369 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5196:Lrrfip1
|
UTSW |
1 |
91,042,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5250:Lrrfip1
|
UTSW |
1 |
91,043,618 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5433:Lrrfip1
|
UTSW |
1 |
91,014,848 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6005:Lrrfip1
|
UTSW |
1 |
91,042,333 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6218:Lrrfip1
|
UTSW |
1 |
91,009,881 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6600:Lrrfip1
|
UTSW |
1 |
91,043,569 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6847:Lrrfip1
|
UTSW |
1 |
91,032,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6911:Lrrfip1
|
UTSW |
1 |
91,042,529 (GRCm39) |
nonsense |
probably null |
|
|
R6940:Lrrfip1
|
UTSW |
1 |
91,050,135 (GRCm39) |
splice site |
probably null |
|
|
R6976:Lrrfip1
|
UTSW |
1 |
91,042,737 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7002:Lrrfip1
|
UTSW |
1 |
91,043,180 (GRCm39) |
missense |
probably benign |
0.31 |
|
R7205:Lrrfip1
|
UTSW |
1 |
91,019,338 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Lrrfip1
|
UTSW |
1 |
91,050,842 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7552:Lrrfip1
|
UTSW |
1 |
91,033,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7910:Lrrfip1
|
UTSW |
1 |
91,047,874 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8006:Lrrfip1
|
UTSW |
1 |
91,004,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8068:Lrrfip1
|
UTSW |
1 |
91,055,824 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8086:Lrrfip1
|
UTSW |
1 |
91,043,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8221:Lrrfip1
|
UTSW |
1 |
91,042,878 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8352:Lrrfip1
|
UTSW |
1 |
90,926,541 (GRCm39) |
missense |
probably benign |
|
|
R8362:Lrrfip1
|
UTSW |
1 |
90,981,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8903:Lrrfip1
|
UTSW |
1 |
91,012,781 (GRCm39) |
intron |
probably benign |
|
|
R9138:Lrrfip1
|
UTSW |
1 |
91,038,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0057:Lrrfip1
|
UTSW |
1 |
91,043,125 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
Z1088:Lrrfip1
|
UTSW |
1 |
91,043,252 (GRCm39) |
intron |
probably benign |
|
|
Z1176:Lrrfip1
|
UTSW |
1 |
91,028,921 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Z1177:Lrrfip1
|
UTSW |
1 |
91,050,216 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
| Posted On |
2015-04-16 |
Incidental Mutation