Incidental Mutation 'PIT4696001:Lrfn5'
ID |
556809 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrfn5
|
Ensembl Gene |
ENSMUSG00000035653 |
Gene Name |
leucine rich repeat and fibronectin type III domain containing 5 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
PIT4696001 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 61890343 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 544
(F544S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000051546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
AlphaFold |
Q8BXA0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000055815
AA Change: F544S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000051546 Gene: ENSMUSG00000035653 AA Change: F544S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
LRRNT
|
19 |
55 |
1.11e1 |
SMART |
LRR
|
74 |
97 |
3.07e-1 |
SMART |
LRR_TYP
|
98 |
121 |
1.2e-3 |
SMART |
LRR_TYP
|
122 |
145 |
8.94e-3 |
SMART |
LRR
|
146 |
169 |
6.58e0 |
SMART |
LRR_TYP
|
170 |
193 |
8.34e-3 |
SMART |
LRR
|
194 |
218 |
2.47e1 |
SMART |
LRRCT
|
240 |
285 |
1.65e-2 |
SMART |
IGc2
|
299 |
364 |
3.53e-13 |
SMART |
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
Blast:FN3
|
414 |
495 |
2e-48 |
BLAST |
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000119481
AA Change: F544S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000113123 Gene: ENSMUSG00000035653 AA Change: F544S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
LRRNT
|
19 |
55 |
1.11e1 |
SMART |
LRR
|
74 |
97 |
3.07e-1 |
SMART |
LRR_TYP
|
98 |
121 |
1.2e-3 |
SMART |
LRR_TYP
|
122 |
145 |
8.94e-3 |
SMART |
LRR
|
146 |
169 |
6.58e0 |
SMART |
LRR_TYP
|
170 |
193 |
8.34e-3 |
SMART |
LRR
|
194 |
218 |
2.47e1 |
SMART |
LRRCT
|
240 |
285 |
1.65e-2 |
SMART |
IGc2
|
299 |
364 |
3.53e-13 |
SMART |
low complexity region
|
393 |
412 |
N/A |
INTRINSIC |
Blast:FN3
|
414 |
495 |
2e-48 |
BLAST |
transmembrane domain
|
528 |
550 |
N/A |
INTRINSIC |
low complexity region
|
613 |
627 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 93.5%
- 3x: 91.0%
- 10x: 86.2%
- 20x: 75.9%
|
Validation Efficiency |
100% (57/57) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
G |
A |
7: 119,384,209 (GRCm39) |
|
probably null |
Het |
Adam20 |
T |
A |
8: 41,247,985 (GRCm39) |
Y32N |
probably benign |
Het |
Adm |
T |
C |
7: 110,227,496 (GRCm39) |
V4A |
probably benign |
Het |
Anpep |
G |
A |
7: 79,489,212 (GRCm39) |
T320I |
possibly damaging |
Het |
Atp8b1 |
T |
C |
18: 64,672,341 (GRCm39) |
S1008G |
possibly damaging |
Het |
B9d1 |
T |
A |
11: 61,396,069 (GRCm39) |
M12K |
possibly damaging |
Het |
Cad |
T |
C |
5: 31,229,438 (GRCm39) |
L1435P |
probably damaging |
Het |
Cat |
T |
C |
2: 103,302,157 (GRCm39) |
D180G |
probably damaging |
Het |
Cntln |
C |
T |
4: 84,892,237 (GRCm39) |
T374M |
probably damaging |
Het |
Cyp2a5 |
G |
A |
7: 26,540,404 (GRCm39) |
R339Q |
probably benign |
Het |
Defa22 |
T |
C |
8: 21,652,352 (GRCm39) |
L6P |
probably damaging |
Het |
Dr1 |
T |
A |
5: 108,417,604 (GRCm39) |
I50K |
probably damaging |
Het |
Eln |
C |
T |
5: 134,766,032 (GRCm39) |
G57E |
unknown |
Het |
Fat4 |
T |
C |
3: 38,943,153 (GRCm39) |
I682T |
probably benign |
Het |
Fat4 |
C |
A |
3: 39,036,506 (GRCm39) |
A3386E |
probably damaging |
Het |
Fcgr3 |
T |
A |
1: 170,885,319 (GRCm39) |
Y102F |
probably damaging |
Het |
Gm5930 |
A |
T |
14: 44,573,993 (GRCm39) |
L115M |
probably damaging |
Het |
Herc1 |
T |
A |
9: 66,386,291 (GRCm39) |
V3748D |
probably damaging |
Het |
Ino80d |
A |
G |
1: 63,125,145 (GRCm39) |
S106P |
probably benign |
Het |
Kcns3 |
C |
T |
12: 11,142,749 (GRCm39) |
|
probably benign |
Het |
Kndc1 |
T |
A |
7: 139,512,830 (GRCm39) |
L1527Q |
probably damaging |
Het |
Lepr |
T |
G |
4: 101,637,180 (GRCm39) |
S690A |
probably benign |
Het |
Mapkap1 |
C |
A |
2: 34,509,861 (GRCm39) |
H450Q |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,994,445 (GRCm39) |
T485A |
probably benign |
Het |
Megf10 |
T |
C |
18: 57,410,760 (GRCm39) |
C690R |
probably damaging |
Het |
Myo7a |
A |
G |
7: 97,712,806 (GRCm39) |
M1723T |
probably benign |
Het |
Nrip3 |
A |
T |
7: 109,364,714 (GRCm39) |
C137* |
probably null |
Het |
Or5w22 |
T |
A |
2: 87,363,124 (GRCm39) |
I249N |
probably damaging |
Het |
Pde4a |
T |
A |
9: 21,122,297 (GRCm39) |
M731K |
probably benign |
Het |
Pebp1 |
A |
G |
5: 117,421,527 (GRCm39) |
L117P |
probably damaging |
Het |
Phc2 |
T |
C |
4: 128,598,995 (GRCm39) |
Y51H |
probably damaging |
Het |
Ppp2r5b |
A |
G |
19: 6,284,713 (GRCm39) |
F50S |
probably benign |
Het |
Prpf4b |
A |
G |
13: 35,083,825 (GRCm39) |
S865G |
probably benign |
Het |
Ptpn5 |
C |
T |
7: 46,738,354 (GRCm39) |
V243M |
probably benign |
Het |
Rora |
T |
C |
9: 69,271,841 (GRCm39) |
L273P |
possibly damaging |
Het |
Rtp4 |
T |
A |
16: 23,432,204 (GRCm39) |
S245R |
probably benign |
Het |
Scgb2b20 |
C |
T |
7: 33,063,985 (GRCm39) |
G95D |
probably benign |
Het |
Sec24b |
A |
G |
3: 129,788,040 (GRCm39) |
V820A |
probably benign |
Het |
Sim2 |
A |
G |
16: 93,895,168 (GRCm39) |
D62G |
possibly damaging |
Het |
Slc17a4 |
A |
T |
13: 24,084,497 (GRCm39) |
V429D |
probably benign |
Het |
Sp2 |
T |
C |
11: 96,852,799 (GRCm39) |
T42A |
probably damaging |
Het |
Spata3 |
G |
A |
1: 85,952,169 (GRCm39) |
R141Q |
unknown |
Het |
Sptbn2 |
A |
T |
19: 4,795,605 (GRCm39) |
E1658D |
probably benign |
Het |
Tcaf1 |
T |
C |
6: 42,655,473 (GRCm39) |
H501R |
probably benign |
Het |
Tec |
G |
A |
5: 72,931,178 (GRCm39) |
T262M |
possibly damaging |
Het |
Timm9 |
A |
T |
12: 71,172,305 (GRCm39) |
N22K |
possibly damaging |
Het |
Tln1 |
C |
T |
4: 43,542,701 (GRCm39) |
|
probably null |
Het |
Tmbim4 |
A |
G |
10: 120,053,529 (GRCm39) |
I109M |
probably benign |
Het |
Tmc7 |
T |
C |
7: 118,163,566 (GRCm39) |
K110E |
probably benign |
Het |
Tmem107 |
C |
T |
11: 68,963,399 (GRCm39) |
P136L |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,061,563 (GRCm39) |
|
probably null |
Het |
Ubd |
A |
C |
17: 37,506,335 (GRCm39) |
T74P |
probably damaging |
Het |
Vps11 |
A |
G |
9: 44,269,486 (GRCm39) |
V255A |
possibly damaging |
Het |
Vsnl1 |
T |
C |
12: 11,376,448 (GRCm39) |
T146A |
probably benign |
Het |
Wdr38 |
G |
T |
2: 38,889,984 (GRCm39) |
|
probably null |
Het |
Yes1 |
T |
A |
5: 32,841,969 (GRCm39) |
S498T |
possibly damaging |
Het |
Zc3h13 |
G |
A |
14: 75,569,323 (GRCm39) |
R1390H |
probably damaging |
Het |
Zscan4b |
A |
G |
7: 10,635,949 (GRCm39) |
V126A |
possibly damaging |
Het |
|
Other mutations in Lrfn5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00492:Lrfn5
|
APN |
12 |
61,890,912 (GRCm39) |
missense |
probably benign |
|
IGL02010:Lrfn5
|
APN |
12 |
61,886,469 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL03033:Lrfn5
|
APN |
12 |
61,886,833 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03094:Lrfn5
|
APN |
12 |
61,886,532 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03207:Lrfn5
|
APN |
12 |
61,890,112 (GRCm39) |
missense |
probably damaging |
1.00 |
falstaffian
|
UTSW |
12 |
61,890,348 (GRCm39) |
missense |
probably benign |
0.21 |
R0402:Lrfn5
|
UTSW |
12 |
61,886,803 (GRCm39) |
missense |
probably benign |
0.22 |
R0738:Lrfn5
|
UTSW |
12 |
61,887,378 (GRCm39) |
nonsense |
probably null |
|
R0744:Lrfn5
|
UTSW |
12 |
61,886,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0833:Lrfn5
|
UTSW |
12 |
61,886,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R0973:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R0974:Lrfn5
|
UTSW |
12 |
61,890,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R1073:Lrfn5
|
UTSW |
12 |
61,887,595 (GRCm39) |
missense |
probably damaging |
1.00 |
R1332:Lrfn5
|
UTSW |
12 |
61,904,314 (GRCm39) |
splice site |
probably benign |
|
R1500:Lrfn5
|
UTSW |
12 |
61,886,527 (GRCm39) |
missense |
probably damaging |
1.00 |
R2039:Lrfn5
|
UTSW |
12 |
61,887,109 (GRCm39) |
missense |
possibly damaging |
0.82 |
R3834:Lrfn5
|
UTSW |
12 |
61,886,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R4171:Lrfn5
|
UTSW |
12 |
61,890,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R4212:Lrfn5
|
UTSW |
12 |
61,890,606 (GRCm39) |
missense |
probably benign |
|
R4394:Lrfn5
|
UTSW |
12 |
61,890,276 (GRCm39) |
missense |
probably damaging |
1.00 |
R4578:Lrfn5
|
UTSW |
12 |
61,890,763 (GRCm39) |
missense |
probably benign |
|
R4661:Lrfn5
|
UTSW |
12 |
61,886,433 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Lrfn5
|
UTSW |
12 |
61,887,505 (GRCm39) |
missense |
probably benign |
0.03 |
R4955:Lrfn5
|
UTSW |
12 |
61,886,764 (GRCm39) |
missense |
probably benign |
0.29 |
R4968:Lrfn5
|
UTSW |
12 |
61,886,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R4970:Lrfn5
|
UTSW |
12 |
61,886,461 (GRCm39) |
missense |
probably damaging |
1.00 |
R5078:Lrfn5
|
UTSW |
12 |
61,890,660 (GRCm39) |
missense |
possibly damaging |
0.47 |
R5165:Lrfn5
|
UTSW |
12 |
61,886,410 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5768:Lrfn5
|
UTSW |
12 |
61,886,509 (GRCm39) |
missense |
probably benign |
0.44 |
R5892:Lrfn5
|
UTSW |
12 |
61,890,204 (GRCm39) |
missense |
probably damaging |
1.00 |
R6133:Lrfn5
|
UTSW |
12 |
61,890,574 (GRCm39) |
missense |
probably benign |
0.22 |
R6211:Lrfn5
|
UTSW |
12 |
61,886,256 (GRCm39) |
missense |
probably benign |
0.00 |
R6297:Lrfn5
|
UTSW |
12 |
61,890,348 (GRCm39) |
missense |
probably benign |
0.21 |
R6341:Lrfn5
|
UTSW |
12 |
61,890,368 (GRCm39) |
nonsense |
probably null |
|
R6861:Lrfn5
|
UTSW |
12 |
61,886,476 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Lrfn5
|
UTSW |
12 |
61,890,768 (GRCm39) |
missense |
probably benign |
|
R7392:Lrfn5
|
UTSW |
12 |
61,887,090 (GRCm39) |
missense |
probably benign |
0.00 |
R8224:Lrfn5
|
UTSW |
12 |
61,890,192 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8261:Lrfn5
|
UTSW |
12 |
61,886,323 (GRCm39) |
missense |
probably damaging |
1.00 |
R9528:Lrfn5
|
UTSW |
12 |
61,886,408 (GRCm39) |
missense |
probably benign |
0.28 |
R9641:Lrfn5
|
UTSW |
12 |
61,886,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R9652:Lrfn5
|
UTSW |
12 |
61,890,418 (GRCm39) |
missense |
probably damaging |
0.99 |
R9653:Lrfn5
|
UTSW |
12 |
61,890,418 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Lrfn5
|
UTSW |
12 |
61,886,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGTCAATAATCTGGCATCTG -3'
(R):5'- GCAACTTTACAGCACTGGGC -3'
Sequencing Primer
(F):5'- CTGGCATCTGGAACTATGTATGAC -3'
(R):5'- GCACTGGGCATTCTCTTCATGG -3'
|
Posted On |
2019-06-07 |