Incidental Mutation 'R0891:Lrrfip1'
| ID |
83489 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrfip1
|
| Ensembl Gene |
ENSMUSG00000026305 |
| Gene Name |
leucine rich repeat (in FLII) interacting protein 1 |
| Synonyms |
FLAP (FLI LRR associated protein), Fliiap1 |
| MMRRC Submission |
039054-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0891 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 90996337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 50
(I50N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068116]
[ENSMUST00000068167]
[ENSMUST00000097649]
[ENSMUST00000097650]
[ENSMUST00000185531]
[ENSMUST00000186762]
[ENSMUST00000189505]
[ENSMUST00000189617]
|
| AlphaFold |
Q3UZ39 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068116
AA Change: I50N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305
AA Change: I50N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
33 |
354 |
4.1e-133 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068167
AA Change: I40N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
AA Change: I40N
| 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 damaging
Transcript: ENSMUST00000097649
AA Change: I40N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: I40N
| 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 damaging
Transcript: ENSMUST00000097650
AA Change: I40N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
AA Change: I40N
| 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 damaging
Transcript: ENSMUST00000185531
AA Change: I50N
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
AA Change: I50N
| 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 |
possibly damaging
Transcript: ENSMUST00000186762
AA Change: I40N
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139902
Gene: ENSMUSG00000026305
AA Change: I40N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
23 |
98 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189505
AA Change: I50N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141024
Gene: ENSMUSG00000026305
AA Change: I50N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
33 |
306 |
7.2e-78 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189617
AA Change: I40N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: I40N
| 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 |
|
| Meta Mutation Damage Score |
0.6058 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 96.7%
- 20x: 92.2%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,884,156 (GRCm39) |
N567K |
possibly damaging |
Het |
| Afap1 |
G |
A |
5: 36,119,196 (GRCm39) |
|
probably null |
Het |
| Angel2 |
G |
T |
1: 190,677,270 (GRCm39) |
K517N |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,637,316 (GRCm39) |
E1295G |
possibly damaging |
Het |
| Ankrd45 |
A |
G |
1: 160,982,906 (GRCm39) |
N139S |
possibly damaging |
Het |
| Ano3 |
T |
C |
2: 110,528,321 (GRCm39) |
T498A |
probably benign |
Het |
| Arhgap12 |
T |
C |
18: 6,026,699 (GRCm39) |
T720A |
probably damaging |
Het |
| Brd10 |
G |
A |
19: 29,695,053 (GRCm39) |
T1547I |
probably damaging |
Het |
| Brsk1 |
A |
G |
7: 4,707,226 (GRCm39) |
S260G |
possibly damaging |
Het |
| Calml3 |
A |
G |
13: 3,853,926 (GRCm39) |
F93S |
probably damaging |
Het |
| Ccnf |
G |
T |
17: 24,445,751 (GRCm39) |
H498Q |
possibly damaging |
Het |
| Col27a1 |
A |
C |
4: 63,223,420 (GRCm39) |
|
probably null |
Het |
| Cpne5 |
A |
G |
17: 29,421,893 (GRCm39) |
|
probably benign |
Het |
| Dcst1 |
G |
A |
3: 89,260,584 (GRCm39) |
T560I |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,777,904 (GRCm39) |
Y351H |
possibly damaging |
Het |
| Gen1 |
A |
G |
12: 11,298,355 (GRCm39) |
|
probably benign |
Het |
| Kcnh8 |
A |
T |
17: 53,212,242 (GRCm39) |
D680V |
probably damaging |
Het |
| Kmt2d |
A |
G |
15: 98,750,572 (GRCm39) |
|
probably benign |
Het |
| Mbip |
A |
T |
12: 56,387,242 (GRCm39) |
D132E |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,195,898 (GRCm39) |
I235N |
possibly damaging |
Het |
| Nup93 |
T |
A |
8: 95,007,891 (GRCm39) |
|
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,372 (GRCm39) |
Y104H |
probably damaging |
Het |
| Or6z6 |
T |
A |
7: 6,491,471 (GRCm39) |
Y134F |
probably damaging |
Het |
| Pgbd1 |
T |
C |
13: 21,606,970 (GRCm39) |
Y408C |
probably damaging |
Het |
| Pigo |
G |
A |
4: 43,020,519 (GRCm39) |
Q808* |
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,837,974 (GRCm39) |
N299K |
probably benign |
Het |
| Pip5k1a |
A |
G |
3: 94,972,831 (GRCm39) |
|
probably benign |
Het |
| Semp2l1 |
T |
A |
1: 32,585,442 (GRCm39) |
H156L |
possibly damaging |
Het |
| Septin5 |
G |
C |
16: 18,443,595 (GRCm39) |
T118R |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,638,015 (GRCm39) |
V483A |
probably damaging |
Het |
| Togaram1 |
A |
G |
12: 65,029,421 (GRCm39) |
D948G |
probably benign |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,476 (GRCm39) |
V442E |
possibly damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,068 (GRCm39) |
K46E |
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 |
|
IGL02401:Lrrfip1
|
APN |
1 |
91,042,650 (GRCm39) |
missense |
probably benign |
0.21 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACACAGTGTGCTTGTTAAGCCC -3'
(R):5'- AACCTGGAACAGATGTCCAGCATTC -3'
Sequencing Primer
(F):5'- CAGTGTGCTTGTTAAGCCCTAAAC -3'
(R):5'- TCTGGGGCTAATCTGGAACAAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation