Incidental Mutation 'R0738:Lrfn5'
| ID |
70586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrfn5
|
| Ensembl Gene |
ENSMUSG00000035653 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 5 |
| Synonyms |
|
| MMRRC Submission |
038919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
61569936-61905128 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 61887378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 389
(E389*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113123
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055815]
[ENSMUST00000119481]
|
| AlphaFold |
Q8BXA0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000055815
AA Change: E389*
|
| SMART Domains |
Protein: ENSMUSP00000051546
Gene: ENSMUSG00000035653
AA Change: E389*
| 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 null
Transcript: ENSMUST00000119481
AA Change: E389*
|
| SMART Domains |
Protein: ENSMUSP00000113123
Gene: ENSMUSG00000035653
AA Change: E389*
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,388,812 (GRCm39) |
M189K |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,604,130 (GRCm39) |
E964D |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,778,302 (GRCm39) |
|
probably benign |
Het |
| Cd9 |
G |
T |
6: 125,439,103 (GRCm39) |
Q169K |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,827,027 (GRCm39) |
|
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,787 (GRCm39) |
N247S |
possibly damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,089 (GRCm39) |
|
probably null |
Het |
| Defa22 |
C |
T |
8: 21,652,391 (GRCm39) |
T19I |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,620,981 (GRCm39) |
N576D |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,415,975 (GRCm39) |
M675V |
probably damaging |
Het |
| Fam241a |
C |
A |
3: 127,664,442 (GRCm39) |
A120S |
possibly damaging |
Het |
| Fkbp8 |
T |
A |
8: 70,982,320 (GRCm39) |
I86N |
probably damaging |
Het |
| Herc4 |
C |
T |
10: 63,124,928 (GRCm39) |
P514L |
possibly damaging |
Het |
| Ide |
A |
T |
19: 37,255,364 (GRCm39) |
L813* |
probably null |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,675 (GRCm39) |
Q26* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,685,681 (GRCm39) |
V483A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,490,438 (GRCm39) |
I1002N |
probably benign |
Het |
| Lrp6 |
G |
T |
6: 134,519,008 (GRCm39) |
A19E |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,286,315 (GRCm39) |
L228P |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,464,348 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
A |
5: 118,889,698 (GRCm39) |
Y1820N |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,731,869 (GRCm39) |
N735S |
probably benign |
Het |
| Mid2 |
A |
G |
X: 139,664,425 (GRCm39) |
Y618C |
probably damaging |
Het |
| Mllt11 |
G |
A |
3: 95,127,597 (GRCm39) |
Q58* |
probably null |
Het |
| Mttp |
A |
G |
3: 137,809,074 (GRCm39) |
V678A |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,098 (GRCm39) |
|
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,168,725 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,102 (GRCm39) |
E109V |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,421 (GRCm39) |
V204A |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,764 (GRCm39) |
N358S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,609,974 (GRCm39) |
|
probably benign |
Het |
| Popdc3 |
T |
C |
10: 45,191,354 (GRCm39) |
L155P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,414,218 (GRCm39) |
I24N |
unknown |
Het |
| Rc3h2 |
T |
A |
2: 37,295,386 (GRCm39) |
D210V |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Spopl |
T |
C |
2: 23,427,533 (GRCm39) |
T200A |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,165,540 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,218,173 (GRCm39) |
H121Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,984 (GRCm39) |
D233G |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,200,661 (GRCm39) |
V432E |
possibly damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,424 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,342,308 (GRCm39) |
I46N |
probably 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 |
|
PIT4696001:Lrfn5
|
UTSW |
12 |
61,890,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:Lrfn5
|
UTSW |
12 |
61,886,803 (GRCm39) |
missense |
probably benign |
0.22 |
|
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'- ACCCTGAACCTGCGATTCATTGG -3'
(R):5'- CCCTGCACTGTATTGGTCAGCAAAG -3'
Sequencing Primer
(F):5'- ATTTCCCCTGAAGGGAAGCTG -3'
(R):5'- GCAAAGATCCATTATGGCTGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation