Incidental Mutation 'IGL02176:Lrfn1'
| ID |
283101 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lrfn1
|
| Ensembl Gene |
ENSMUSG00000030600 |
| Gene Name |
leucine rich repeat and fibronectin type III domain containing 1 |
| Synonyms |
SALM2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
IGL02176
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
28151405-28167667 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to C
at 28158111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040486
(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 |
unknown
Transcript: ENSMUST00000055110
AA Change: L10P
|
| SMART Domains |
Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
AA Change: L10P
| 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 |
unknown
Transcript: ENSMUST00000108288
AA Change: L10P
|
| SMART Domains |
Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: L10P
| 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 |
unknown
Transcript: ENSMUST00000189877
AA Change: L10P
|
| SMART Domains |
Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
AA Change: L10P
| 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 |
unknown
Transcript: ENSMUST00000190954
AA Change: L10P
|
| SMART Domains |
Protein: ENSMUSP00000140537
Gene: ENSMUSG00000030600
AA Change: L10P
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
G |
T |
10: 20,846,815 (GRCm39) |
R415L |
probably benign |
Het |
| Ankle1 |
C |
A |
8: 71,858,903 (GRCm39) |
H45Q |
probably damaging |
Het |
| Anks1b |
A |
T |
10: 89,878,530 (GRCm39) |
H113L |
probably damaging |
Het |
| Arhgap33 |
T |
A |
7: 30,223,476 (GRCm39) |
H851L |
possibly damaging |
Het |
| Atp12a |
C |
T |
14: 56,624,636 (GRCm39) |
S972L |
probably damaging |
Het |
| Atrip |
T |
C |
9: 108,896,114 (GRCm39) |
D301G |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,505,545 (GRCm39) |
T223A |
probably benign |
Het |
| C3 |
C |
A |
17: 57,533,337 (GRCm39) |
|
probably benign |
Het |
| C8g |
A |
G |
2: 25,389,122 (GRCm39) |
S154P |
probably damaging |
Het |
| Casz1 |
A |
G |
4: 149,019,076 (GRCm39) |
D459G |
probably damaging |
Het |
| Cdca7 |
A |
G |
2: 72,314,988 (GRCm39) |
T293A |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,226,658 (GRCm39) |
D2810V |
probably damaging |
Het |
| CN725425 |
G |
A |
15: 91,130,024 (GRCm39) |
V296I |
probably benign |
Het |
| Col17a1 |
A |
G |
19: 47,639,658 (GRCm39) |
M1077T |
probably benign |
Het |
| Ddhd1 |
A |
T |
14: 45,854,057 (GRCm39) |
H426Q |
probably damaging |
Het |
| Dpp6 |
C |
T |
5: 27,928,575 (GRCm39) |
T799M |
probably damaging |
Het |
| Efs |
C |
T |
14: 55,158,499 (GRCm39) |
G53D |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,890,371 (GRCm39) |
V221A |
probably benign |
Het |
| Gabre |
G |
A |
X: 71,318,259 (GRCm39) |
Q17* |
probably null |
Het |
| Gpld1 |
T |
C |
13: 25,168,192 (GRCm39) |
|
probably null |
Het |
| Gpr107 |
T |
A |
2: 31,058,858 (GRCm39) |
V116D |
probably benign |
Het |
| Huwe1 |
T |
C |
X: 150,686,964 (GRCm39) |
S2283P |
possibly damaging |
Het |
| Ksr1 |
A |
G |
11: 78,911,617 (GRCm39) |
S722P |
probably benign |
Het |
| Lmbrd2 |
A |
G |
15: 9,182,661 (GRCm39) |
E532G |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,598 (GRCm39) |
D408G |
probably damaging |
Het |
| Mbp |
A |
G |
18: 82,572,670 (GRCm39) |
E122G |
probably damaging |
Het |
| Myo9a |
T |
A |
9: 59,777,836 (GRCm39) |
D1197E |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,220,485 (GRCm39) |
|
probably benign |
Het |
| Or2y17 |
A |
G |
11: 49,232,133 (GRCm39) |
Y258C |
probably benign |
Het |
| Pdcd1lg2 |
A |
G |
19: 29,414,732 (GRCm39) |
E53G |
probably benign |
Het |
| Phex |
G |
T |
X: 156,051,489 (GRCm39) |
A469E |
probably damaging |
Het |
| Pigo |
A |
G |
4: 43,019,352 (GRCm39) |
S957P |
probably benign |
Het |
| Ppargc1b |
T |
A |
18: 61,443,946 (GRCm39) |
R406* |
probably null |
Het |
| Ppargc1b |
C |
A |
18: 61,443,945 (GRCm39) |
R422I |
probably damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Thnsl1 |
G |
T |
2: 21,216,665 (GRCm39) |
A140S |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,235,076 (GRCm39) |
|
probably benign |
Het |
| Tma7 |
T |
A |
9: 108,911,153 (GRCm39) |
|
probably benign |
Het |
| Tmtc2 |
T |
G |
10: 105,184,354 (GRCm39) |
S514R |
probably benign |
Het |
| Unc79 |
G |
A |
12: 102,965,006 (GRCm39) |
|
probably null |
Het |
| Wdr89 |
A |
T |
12: 75,679,897 (GRCm39) |
I119N |
probably damaging |
Het |
| Wiz |
C |
A |
17: 32,575,876 (GRCm39) |
R843S |
probably damaging |
Het |
| Zfp275 |
T |
A |
X: 72,396,889 (GRCm39) |
S12T |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation