Incidental Mutation 'R1123:Lrfn1'
| ID |
95852 |
| 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 |
039196-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R1123 (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 28166544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Phenylalanine
at position 646
(C646F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000108288]
[ENSMUST00000189877]
|
| 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 |
possibly damaging
Transcript: ENSMUST00000108288
AA Change: C646F
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: C646F
| 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
|
| SMART Domains |
Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
| 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 |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,154,906 (GRCm39) |
M987K |
probably benign |
Het |
| Akap3 |
A |
G |
6: 126,842,929 (GRCm39) |
D516G |
probably benign |
Het |
| Arhgap12 |
A |
C |
18: 6,031,822 (GRCm39) |
V573G |
probably damaging |
Het |
| Ccdc122 |
T |
C |
14: 77,305,351 (GRCm39) |
S2P |
probably damaging |
Het |
| Cel |
T |
C |
2: 28,446,752 (GRCm39) |
Y473C |
probably damaging |
Het |
| Cfap157 |
C |
T |
2: 32,667,935 (GRCm39) |
V469M |
possibly damaging |
Het |
| Cyp2c40 |
C |
G |
19: 39,801,121 (GRCm39) |
V45L |
probably benign |
Het |
| Dtx3l |
C |
T |
16: 35,753,638 (GRCm39) |
A323T |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,821,762 (GRCm39) |
T706A |
probably benign |
Het |
| Esyt1 |
A |
T |
10: 128,352,427 (GRCm39) |
V728E |
probably benign |
Het |
| Etnk2 |
A |
G |
1: 133,301,010 (GRCm39) |
D259G |
probably benign |
Het |
| Evi5 |
T |
G |
5: 107,968,444 (GRCm39) |
I184L |
probably benign |
Het |
| Fem1a |
G |
C |
17: 56,564,791 (GRCm39) |
D295H |
probably damaging |
Het |
| Hectd4 |
T |
C |
5: 121,424,799 (GRCm39) |
F83S |
probably damaging |
Het |
| Hephl1 |
T |
C |
9: 14,991,436 (GRCm39) |
T601A |
probably benign |
Het |
| Isoc1 |
T |
C |
18: 58,804,695 (GRCm39) |
V201A |
probably benign |
Het |
| Kcnt2 |
A |
T |
1: 140,501,346 (GRCm39) |
D830V |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,299,428 (GRCm39) |
Y1255H |
probably benign |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,212 (GRCm39) |
S115P |
possibly damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,697 (GRCm39) |
Y102* |
probably null |
Het |
| Or9m1 |
A |
C |
2: 87,733,248 (GRCm39) |
I257M |
probably damaging |
Het |
| Pik3r4 |
G |
A |
9: 105,540,328 (GRCm39) |
A739T |
probably benign |
Het |
| Prpf8 |
T |
C |
11: 75,386,111 (GRCm39) |
V920A |
probably damaging |
Het |
| Slc16a7 |
A |
C |
10: 125,067,016 (GRCm39) |
S208A |
probably benign |
Het |
| Slc35e1 |
T |
C |
8: 73,246,415 (GRCm39) |
|
probably benign |
Het |
| Slc35g2 |
A |
T |
9: 100,435,047 (GRCm39) |
I208N |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,233,210 (GRCm39) |
I51V |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,666,336 (GRCm39) |
L286P |
probably damaging |
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 |
|
|
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 |
|
R4246:Lrfn1
|
UTSW |
7 |
28,159,367 (GRCm39) |
missense |
probably benign |
0.03 |
|
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'- AGCCAGACCTTCCTAGTGAATGACC -3'
(R):5'- TAACTGTGACTCTGGAACAGCGCC -3'
Sequencing Primer
(F):5'- GCTCATGATTCGCTACAAGG -3'
(R):5'- AACAGCGCCCCGTAGTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation