Incidental Mutation 'R4246:Lrfn1'
ID |
320425 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrfn1
|
Ensembl Gene |
ENSMUSG00000030600 |
Gene Name |
leucine rich repeat and fibronectin type III domain containing 1 |
Synonyms |
SALM2 |
MMRRC Submission |
041062-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.342)
|
Stock # |
R4246 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
28151405-28167667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 28159367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 429
(V429L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000055110]
[ENSMUST00000108288]
[ENSMUST00000189877]
[ENSMUST00000190954]
|
AlphaFold |
Q2WF71 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
|
SMART Domains |
Protein: ENSMUSP00000040486 Gene: ENSMUSG00000109336
Domain | Start | End | E-Value | Type |
low complexity region
|
81 |
90 |
N/A |
INTRINSIC |
low complexity region
|
174 |
190 |
N/A |
INTRINSIC |
low complexity region
|
200 |
211 |
N/A |
INTRINSIC |
low complexity region
|
278 |
290 |
N/A |
INTRINSIC |
SAM
|
296 |
359 |
1.02e-9 |
SMART |
low complexity region
|
406 |
420 |
N/A |
INTRINSIC |
low complexity region
|
433 |
461 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055110
AA Change: V429L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000057645 Gene: ENSMUSG00000030600 AA Change: V429L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
LRR
|
88 |
111 |
8.67e-1 |
SMART |
LRR
|
112 |
135 |
4.57e0 |
SMART |
LRR_TYP
|
136 |
159 |
1.69e-3 |
SMART |
LRR
|
161 |
184 |
2.54e1 |
SMART |
LRR
|
185 |
208 |
2.32e-1 |
SMART |
LRR
|
209 |
233 |
3.75e0 |
SMART |
LRRCT
|
252 |
297 |
1.36e-3 |
SMART |
IGc2
|
312 |
377 |
1.51e-12 |
SMART |
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108288
AA Change: V429L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000103923 Gene: ENSMUSG00000030600 AA Change: V429L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
LRR
|
88 |
111 |
8.67e-1 |
SMART |
LRR
|
112 |
135 |
4.57e0 |
SMART |
LRR_TYP
|
136 |
159 |
1.69e-3 |
SMART |
LRR
|
161 |
184 |
2.54e1 |
SMART |
LRR
|
185 |
208 |
2.32e-1 |
SMART |
LRR
|
209 |
233 |
3.75e0 |
SMART |
LRRCT
|
252 |
297 |
1.36e-3 |
SMART |
IGc2
|
312 |
377 |
1.51e-12 |
SMART |
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
FN3
|
422 |
502 |
2.68e-2 |
SMART |
transmembrane domain
|
535 |
557 |
N/A |
INTRINSIC |
low complexity region
|
589 |
601 |
N/A |
INTRINSIC |
low complexity region
|
609 |
625 |
N/A |
INTRINSIC |
low complexity region
|
716 |
725 |
N/A |
INTRINSIC |
low complexity region
|
730 |
747 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000189877
AA Change: V429L
PolyPhen 2
Score 0.031 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000139609 Gene: ENSMUSG00000030600 AA Change: V429L
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
LRR
|
88 |
111 |
8.67e-1 |
SMART |
LRR
|
112 |
135 |
4.57e0 |
SMART |
LRR_TYP
|
136 |
159 |
1.69e-3 |
SMART |
LRR
|
161 |
184 |
2.54e1 |
SMART |
LRR
|
185 |
208 |
2.32e-1 |
SMART |
LRR
|
209 |
233 |
3.75e0 |
SMART |
LRRCT
|
252 |
297 |
1.36e-3 |
SMART |
IGc2
|
312 |
377 |
1.51e-12 |
SMART |
low complexity region
|
389 |
403 |
N/A |
INTRINSIC |
low complexity region
|
460 |
471 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000190954
|
SMART Domains |
Protein: ENSMUSP00000140537 Gene: ENSMUSG00000030600
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
31 |
N/A |
INTRINSIC |
Blast:LRRNT
|
33 |
69 |
2e-18 |
BLAST |
LRR
|
88 |
111 |
3.7e-3 |
SMART |
LRR
|
112 |
135 |
1.9e-2 |
SMART |
LRR_TYP
|
136 |
159 |
7.1e-6 |
SMART |
LRR
|
161 |
184 |
1.1e-1 |
SMART |
LRR
|
185 |
208 |
1e-3 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191267
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700062C07Rik |
A |
G |
18: 24,606,013 (GRCm39) |
N36S |
possibly damaging |
Het |
Ak1 |
A |
G |
2: 32,523,384 (GRCm39) |
T151A |
possibly damaging |
Het |
Asxl3 |
A |
G |
18: 22,658,557 (GRCm39) |
D2189G |
probably damaging |
Het |
Ccdc91 |
C |
T |
6: 147,493,646 (GRCm39) |
A346V |
unknown |
Het |
Dnah6 |
C |
T |
6: 73,106,431 (GRCm39) |
E1769K |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,750,786 (GRCm39) |
|
probably null |
Het |
Fhod3 |
A |
G |
18: 25,123,123 (GRCm39) |
K271R |
probably null |
Het |
Glyatl3 |
T |
A |
17: 41,220,989 (GRCm39) |
D126V |
probably benign |
Het |
Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
Igkv8-21 |
T |
A |
6: 70,292,436 (GRCm39) |
M1L |
possibly damaging |
Het |
Itih4 |
C |
A |
14: 30,613,359 (GRCm39) |
H261N |
probably damaging |
Het |
Jpt1 |
T |
C |
11: 115,405,119 (GRCm39) |
|
probably benign |
Het |
Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
Klhl32 |
A |
C |
4: 24,800,822 (GRCm39) |
S3A |
possibly damaging |
Het |
Kmt2d |
C |
T |
15: 98,737,970 (GRCm39) |
|
probably benign |
Het |
Lamtor5 |
T |
C |
3: 107,186,354 (GRCm39) |
V41A |
probably benign |
Het |
Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
Mapkbp1 |
T |
A |
2: 119,843,508 (GRCm39) |
I252N |
probably damaging |
Het |
Nelfa |
A |
G |
5: 34,056,373 (GRCm39) |
F464S |
probably damaging |
Het |
Nipbl |
G |
A |
15: 8,361,916 (GRCm39) |
L1454F |
probably damaging |
Het |
Nr4a3 |
C |
T |
4: 48,083,125 (GRCm39) |
P553S |
possibly damaging |
Het |
Nrg3 |
G |
A |
14: 39,194,198 (GRCm39) |
T187I |
possibly damaging |
Het |
Or5m5 |
T |
A |
2: 85,814,624 (GRCm39) |
C147S |
possibly damaging |
Het |
Or8g36 |
A |
G |
9: 39,422,899 (GRCm39) |
V39A |
probably benign |
Het |
Pcdha8 |
A |
G |
18: 37,125,950 (GRCm39) |
E144G |
probably damaging |
Het |
Pik3cb |
T |
C |
9: 98,983,229 (GRCm39) |
|
probably null |
Het |
Pira1 |
C |
T |
7: 3,740,348 (GRCm39) |
G291E |
probably damaging |
Het |
Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
Ppp1r3a |
T |
A |
6: 14,719,780 (GRCm39) |
E378V |
probably damaging |
Het |
Psd2 |
T |
C |
18: 36,139,172 (GRCm39) |
L540P |
probably damaging |
Het |
Rnf14 |
T |
A |
18: 38,434,701 (GRCm39) |
|
probably null |
Het |
Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
Sh3d19 |
G |
A |
3: 86,033,995 (GRCm39) |
V783I |
probably benign |
Het |
Snca |
T |
C |
6: 60,710,149 (GRCm39) |
E110G |
possibly damaging |
Het |
Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
Trhr |
A |
T |
15: 44,096,856 (GRCm39) |
|
probably null |
Het |
Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
Tuft1 |
C |
A |
3: 94,522,108 (GRCm39) |
M319I |
probably benign |
Het |
Vill |
C |
A |
9: 118,889,461 (GRCm39) |
N132K |
probably damaging |
Het |
Wars2 |
T |
A |
3: 99,123,904 (GRCm39) |
V255E |
probably damaging |
Het |
Zcchc14 |
CTGATGGTGGTGGTGATGGTGGTGG |
CTGATGGTGGTGG |
8: 122,331,031 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Lrfn1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00494:Lrfn1
|
APN |
7 |
28,159,442 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01565:Lrfn1
|
APN |
7 |
28,158,194 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01622:Lrfn1
|
APN |
7 |
28,166,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01623:Lrfn1
|
APN |
7 |
28,166,111 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02176:Lrfn1
|
APN |
7 |
28,158,111 (GRCm39) |
intron |
probably benign |
|
IGL02642:Lrfn1
|
APN |
7 |
28,158,113 (GRCm39) |
intron |
probably benign |
|
R1123:Lrfn1
|
UTSW |
7 |
28,166,544 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1838:Lrfn1
|
UTSW |
7 |
28,159,193 (GRCm39) |
missense |
probably damaging |
0.98 |
R3000:Lrfn1
|
UTSW |
7 |
28,166,832 (GRCm39) |
missense |
probably damaging |
1.00 |
R3551:Lrfn1
|
UTSW |
7 |
28,159,479 (GRCm39) |
missense |
possibly damaging |
0.90 |
R3905:Lrfn1
|
UTSW |
7 |
28,166,294 (GRCm39) |
missense |
possibly damaging |
0.49 |
R5621:Lrfn1
|
UTSW |
7 |
28,166,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R6267:Lrfn1
|
UTSW |
7 |
28,159,169 (GRCm39) |
missense |
probably benign |
0.01 |
R6902:Lrfn1
|
UTSW |
7 |
28,159,238 (GRCm39) |
missense |
probably benign |
0.10 |
R7059:Lrfn1
|
UTSW |
7 |
28,166,355 (GRCm39) |
missense |
possibly damaging |
0.65 |
R7073:Lrfn1
|
UTSW |
7 |
28,159,397 (GRCm39) |
missense |
possibly damaging |
0.94 |
R7208:Lrfn1
|
UTSW |
7 |
28,166,564 (GRCm39) |
missense |
probably benign |
|
R7402:Lrfn1
|
UTSW |
7 |
28,158,947 (GRCm39) |
missense |
probably damaging |
1.00 |
R8378:Lrfn1
|
UTSW |
7 |
28,159,157 (GRCm39) |
missense |
probably benign |
0.26 |
R8791:Lrfn1
|
UTSW |
7 |
28,159,344 (GRCm39) |
missense |
probably benign |
0.00 |
R8870:Lrfn1
|
UTSW |
7 |
28,158,918 (GRCm39) |
missense |
possibly damaging |
0.71 |
R9452:Lrfn1
|
UTSW |
7 |
28,159,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R9483:Lrfn1
|
UTSW |
7 |
28,158,183 (GRCm39) |
missense |
probably damaging |
1.00 |
R9579:Lrfn1
|
UTSW |
7 |
28,166,769 (GRCm39) |
missense |
probably damaging |
1.00 |
R9649:Lrfn1
|
UTSW |
7 |
28,166,255 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Lrfn1
|
UTSW |
7 |
28,158,540 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGCATAGCCTCCAATGCTGC -3'
(R):5'- AGCTGGAACTAAGCAAGGTC -3'
Sequencing Primer
(F):5'- TCCAATGCTGCGGGGGAAG -3'
(R):5'- CTGGAACTAAGCAAGGTCAAGGG -3'
|
Posted On |
2015-06-12 |