Incidental Mutation 'R6600:Lrrfip1'
| ID |
525167 |
| 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 |
044724-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6600 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
90926459-91056666 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91043569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 658
(S658F)
|
| 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 damaging
Transcript: ENSMUST00000097649
AA Change: S658F
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: S658F
| 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: ENSMUST00000187375
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188094
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188708
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
ACGC |
ACGCGC |
5: 138,645,710 (GRCm39) |
|
probably null |
Het |
| Adam1b |
C |
T |
5: 121,639,530 (GRCm39) |
C505Y |
probably damaging |
Het |
| Adam24 |
C |
A |
8: 41,133,587 (GRCm39) |
H352N |
probably damaging |
Het |
| Bcl6b |
A |
T |
11: 70,119,954 (GRCm39) |
L11Q |
probably damaging |
Het |
| C2cd5 |
A |
T |
6: 143,025,702 (GRCm39) |
V165E |
probably damaging |
Het |
| Cacna1d |
T |
C |
14: 29,836,192 (GRCm39) |
N852S |
probably benign |
Het |
| Cd320 |
T |
C |
17: 34,066,591 (GRCm39) |
C110R |
probably damaging |
Het |
| Cdk2ap1rt |
A |
C |
11: 48,717,115 (GRCm39) |
V21G |
probably damaging |
Het |
| Clasrp |
T |
A |
7: 19,324,207 (GRCm39) |
K223* |
probably null |
Het |
| Col5a1 |
C |
A |
2: 27,887,583 (GRCm39) |
N951K |
unknown |
Het |
| Csn2 |
T |
C |
5: 87,842,491 (GRCm39) |
T171A |
probably benign |
Het |
| Dse |
A |
G |
10: 34,028,537 (GRCm39) |
I851T |
probably benign |
Het |
| Fam168b |
C |
A |
1: 34,875,822 (GRCm39) |
G21V |
probably damaging |
Het |
| Fbxo24 |
T |
A |
5: 137,611,135 (GRCm39) |
I413F |
probably damaging |
Het |
| Flywch2 |
C |
A |
17: 23,997,084 (GRCm39) |
G109V |
possibly damaging |
Het |
| Fnip1 |
A |
G |
11: 54,393,925 (GRCm39) |
D787G |
probably benign |
Het |
| Gramd1c |
T |
A |
16: 43,860,482 (GRCm39) |
R72* |
probably null |
Het |
| Hspd1 |
T |
C |
1: 55,117,777 (GRCm39) |
I494V |
probably benign |
Het |
| Limch1 |
T |
C |
5: 66,903,281 (GRCm39) |
V10A |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,559,578 (GRCm39) |
S1142F |
probably benign |
Het |
| Naip1 |
C |
T |
13: 100,559,666 (GRCm39) |
G1113S |
probably benign |
Het |
| Nlrc3 |
A |
G |
16: 3,782,938 (GRCm39) |
I157T |
probably benign |
Het |
| Or4a67 |
A |
G |
2: 88,598,101 (GRCm39) |
V186A |
probably benign |
Het |
| Pdlim5 |
T |
C |
3: 141,965,039 (GRCm39) |
R126G |
probably damaging |
Het |
| Pgm1 |
C |
T |
4: 99,824,259 (GRCm39) |
R311* |
probably null |
Het |
| Ptcd3 |
T |
C |
6: 71,860,530 (GRCm39) |
Y559C |
probably damaging |
Het |
| Robo1 |
T |
C |
16: 72,786,543 (GRCm39) |
S852P |
probably damaging |
Het |
| Rps6kb2 |
A |
T |
19: 4,208,850 (GRCm39) |
M259K |
probably damaging |
Het |
| Sema4b |
T |
C |
7: 79,862,676 (GRCm39) |
L84P |
probably benign |
Het |
| Slf1 |
A |
C |
13: 77,231,655 (GRCm39) |
S575A |
probably benign |
Het |
| Tjap1 |
T |
C |
17: 46,570,924 (GRCm39) |
N173S |
probably damaging |
Het |
| Trpm1 |
T |
A |
7: 63,803,781 (GRCm39) |
M1K |
probably null |
Het |
| Ubr1 |
C |
A |
2: 120,745,880 (GRCm39) |
K851N |
probably benign |
Het |
| Zfp568 |
C |
A |
7: 29,721,948 (GRCm39) |
R298S |
possibly 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 |
|
|
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 |
|
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'- ACTGTCAGGACCCAGATGTG -3'
(R):5'- ACATGGTGCAGTCCTCCTTAC -3'
Sequencing Primer
(F):5'- GGTCACTGACAAGAAACAGGCATC -3'
(R):5'- ATGGTGCAGTCCTCCTTACTCTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation