Incidental Mutation 'R6847:Lrrfip1'
| ID |
534789 |
| 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 |
045021-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6847 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91032850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 216
(D216V)
|
| 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: D140V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305
AA Change: D140V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
33 |
354 |
4.1e-133 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068167
AA Change: D278V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
AA Change: D278V
| 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: D106V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: D106V
| 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 |
possibly damaging
Transcript: ENSMUST00000097650
AA Change: D278V
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
AA Change: D278V
| 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: D323V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
AA Change: D323V
| 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 |
probably benign
Transcript: ENSMUST00000186762
|
| SMART Domains |
Protein: ENSMUSP00000139902
Gene: ENSMUSG00000026305
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
23 |
98 |
1.5e-16 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000189505
AA Change: D216V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000141024
Gene: ENSMUSG00000026305
AA Change: D216V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2051
|
33 |
306 |
7.2e-78 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189617
AA Change: D313V
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: D313V
| 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 |
0.2491 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
A |
G |
8: 44,021,465 (GRCm39) |
I675T |
probably benign |
Het |
| Adgrb3 |
A |
T |
1: 25,133,003 (GRCm39) |
M1121K |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,233,797 (GRCm39) |
|
probably null |
Het |
| Akr1c6 |
T |
A |
13: 4,488,497 (GRCm39) |
C34* |
probably null |
Het |
| Akt3 |
G |
A |
1: 176,859,225 (GRCm39) |
P449S |
probably damaging |
Het |
| Atg2b |
A |
T |
12: 105,602,047 (GRCm39) |
V1643E |
probably damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,295,778 (GRCm39) |
I819V |
probably damaging |
Het |
| Casp3 |
C |
T |
8: 47,089,301 (GRCm39) |
A183V |
probably benign |
Het |
| Cdk1 |
A |
T |
10: 69,174,358 (GRCm39) |
D288E |
probably benign |
Het |
| Cep131 |
G |
A |
11: 119,956,517 (GRCm39) |
R944W |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,399,281 (GRCm39) |
K2268E |
probably damaging |
Het |
| Crybg2 |
A |
G |
4: 133,792,857 (GRCm39) |
E164G |
probably benign |
Het |
| Cubn |
A |
C |
2: 13,449,064 (GRCm39) |
|
probably null |
Het |
| Dnajc14 |
A |
T |
10: 128,652,656 (GRCm39) |
E571D |
possibly damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Eef1b2 |
A |
G |
1: 63,217,648 (GRCm39) |
E44G |
probably benign |
Het |
| Eml6 |
C |
T |
11: 29,768,447 (GRCm39) |
V747I |
probably benign |
Het |
| Ext1 |
T |
G |
15: 53,208,550 (GRCm39) |
Q70H |
probably benign |
Het |
| Gbp2b |
T |
A |
3: 142,303,940 (GRCm39) |
C12S |
probably damaging |
Het |
| Gbp8 |
A |
C |
5: 105,179,093 (GRCm39) |
D135E |
probably benign |
Het |
| Gm12886 |
A |
T |
4: 121,273,916 (GRCm39) |
L100* |
probably null |
Het |
| Gpatch1 |
A |
T |
7: 34,992,983 (GRCm39) |
|
probably null |
Het |
| Ifit3b |
A |
T |
19: 34,588,925 (GRCm39) |
M34L |
probably benign |
Het |
| Il12a |
G |
T |
3: 68,602,899 (GRCm39) |
D160Y |
probably damaging |
Het |
| Klhl2 |
A |
G |
8: 65,212,816 (GRCm39) |
L241P |
probably damaging |
Het |
| Krt80 |
T |
C |
15: 101,256,610 (GRCm39) |
E195G |
probably benign |
Het |
| Lgi1 |
T |
C |
19: 38,289,738 (GRCm39) |
V268A |
probably damaging |
Het |
| Meis3 |
A |
G |
7: 15,917,789 (GRCm39) |
N314S |
probably damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
T |
16: 48,965,451 (GRCm39) |
I1119F |
possibly damaging |
Het |
| Nav2 |
A |
T |
7: 49,141,204 (GRCm39) |
Q916H |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,229,606 (GRCm39) |
Q22L |
probably damaging |
Het |
| Or5b118 |
A |
T |
19: 13,448,402 (GRCm39) |
I23F |
probably benign |
Het |
| P2rx4 |
G |
A |
5: 122,865,814 (GRCm39) |
V329M |
probably damaging |
Het |
| Peg10 |
A |
G |
6: 4,754,279 (GRCm39) |
|
probably benign |
Het |
| Pgp |
T |
C |
17: 24,690,375 (GRCm39) |
L267P |
probably damaging |
Het |
| Pou2af2 |
G |
A |
9: 51,201,504 (GRCm39) |
T184M |
probably damaging |
Het |
| Prdm2 |
A |
C |
4: 142,859,520 (GRCm39) |
S1257A |
probably benign |
Het |
| Prr12 |
T |
C |
7: 44,695,164 (GRCm39) |
N1434S |
unknown |
Het |
| Psmc3ip |
A |
T |
11: 100,985,999 (GRCm39) |
H40Q |
probably damaging |
Het |
| Ptprc |
A |
T |
1: 138,016,283 (GRCm39) |
N526K |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,667,249 (GRCm39) |
D138E |
probably damaging |
Het |
| Serpinb13 |
A |
G |
1: 106,926,663 (GRCm39) |
N220D |
probably benign |
Het |
| Siva1 |
G |
A |
12: 112,611,344 (GRCm39) |
|
probably benign |
Het |
| Slc39a12 |
A |
G |
2: 14,454,728 (GRCm39) |
H546R |
probably damaging |
Het |
| Slc7a1 |
G |
A |
5: 148,271,468 (GRCm39) |
A497V |
probably benign |
Het |
| Smg5 |
G |
T |
3: 88,249,859 (GRCm39) |
K95N |
probably damaging |
Het |
| Speer1a |
G |
A |
5: 11,394,134 (GRCm39) |
V78M |
probably damaging |
Het |
| Traj50 |
T |
A |
14: 54,405,101 (GRCm39) |
|
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,813,472 (GRCm39) |
V1261A |
probably damaging |
Het |
| Zc3h11a |
A |
T |
1: 133,566,700 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
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'- TGAATCAGTCGCTGGCTCTG -3'
(R):5'- ACATTCATGAGCACAGCAGG -3'
Sequencing Primer
(F):5'- GTTCAAAGATCCAGTCCATCGTGG -3'
(R):5'- AGCAGGCGGGTGATGCTTAC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation