Incidental Mutation 'IGL00494:Lrfn1'
| ID | 13591 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Lrfn1
|
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| Ensembl Gene |
ENSMUSG00000030600 |
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| Gene Name | leucine rich repeat and fibronectin type III domain containing 1 |
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| Synonyms | SALM2 |
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| Accession Numbers | |
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| Is this an essential gene? |
Possibly essential (E-score: 0.543)
|
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| Stock # | IGL00494
|
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| Quality Score | |
|---|
| Status |
|
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| Chromosome | 7 |
|---|
| Chromosomal Location | 28451980-28468242 bp(+) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 28460017 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Tyrosine to Histidine
at position 454
(Y454H)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000139609
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000055110]
[ENSMUST00000108288]
[ENSMUST00000189877]
[ENSMUST00000190954]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000040531
|
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| 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 damaging
Transcript: ENSMUST00000055110
AA Change: Y454H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
AA Change: Y454H
| 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 damaging
Transcript: ENSMUST00000108288
AA Change: Y454H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: Y454H
| 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 damaging
Transcript: ENSMUST00000189877
AA Change: Y454H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
AA Change: Y454H
| 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 |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191267
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,644,149 |
T271A |
possibly damaging |
Het |
| Amer3 |
A |
G |
1: 34,588,527 |
T616A |
probably benign |
Het |
| Cacna1d |
A |
T |
14: 30,096,950 |
M1216K |
probably damaging |
Het |
| Clec16a |
A |
T |
16: 10,595,896 |
K389M |
probably damaging |
Het |
| Grin2b |
T |
G |
6: 135,736,331 |
M851L |
possibly damaging |
Het |
| Hapln1 |
T |
C |
13: 89,605,471 |
V252A |
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,757,992 |
V402A |
possibly damaging |
Het |
| Map3k21 |
G |
A |
8: 125,944,673 |
S900N |
possibly damaging |
Het |
| Mdm1 |
C |
A |
10: 118,164,441 |
H615N |
probably damaging |
Het |
| Nabp1 |
A |
T |
1: 51,477,528 |
D60E |
probably damaging |
Het |
| Nmur1 |
T |
C |
1: 86,386,362 |
E361G |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,206,556 |
|
probably benign |
Het |
| Ralgapa1 |
T |
G |
12: 55,747,185 |
D555A |
probably damaging |
Het |
| Rbbp4 |
T |
C |
4: 129,310,153 |
E406G |
probably benign |
Het |
| Rp1l1 |
T |
A |
14: 64,028,725 |
C587S |
probably benign |
Het |
| Sez6l |
A |
T |
5: 112,463,003 |
N516K |
probably damaging |
Het |
| Taar7e |
T |
C |
10: 24,038,140 |
I176T |
probably benign |
Het |
| Tex14 |
G |
T |
11: 87,555,484 |
R1439S |
probably damaging |
Het |
| Tldc1 |
T |
C |
8: 119,772,595 |
K53E |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,408,757 |
|
probably benign |
Het |
| Xntrpc |
T |
A |
7: 102,087,547 |
L327Q |
probably damaging |
Het |
|
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| Other mutations in Lrfn1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01565:Lrfn1
|
APN |
7 |
28458769 |
missense |
probably damaging |
1.00 |
|
IGL01622:Lrfn1
|
APN |
7 |
28466686 |
missense |
probably damaging |
1.00 |
|
IGL01623:Lrfn1
|
APN |
7 |
28466686 |
missense |
probably damaging |
1.00 |
|
IGL02176:Lrfn1
|
APN |
7 |
28458686 |
intron |
probably benign |
|
|
IGL02642:Lrfn1
|
APN |
7 |
28458688 |
intron |
probably benign |
|
|
R1123:Lrfn1
|
UTSW |
7 |
28467119 |
missense |
possibly damaging |
0.71 |
|
R1838:Lrfn1
|
UTSW |
7 |
28459768 |
missense |
probably damaging |
0.98 |
|
R3000:Lrfn1
|
UTSW |
7 |
28467407 |
missense |
probably damaging |
1.00 |
|
R3551:Lrfn1
|
UTSW |
7 |
28460054 |
missense |
possibly damaging |
0.90 |
|
R3905:Lrfn1
|
UTSW |
7 |
28466869 |
missense |
possibly damaging |
0.49 |
|
R4246:Lrfn1
|
UTSW |
7 |
28459942 |
missense |
probably benign |
0.03 |
|
R5621:Lrfn1
|
UTSW |
7 |
28466836 |
missense |
probably damaging |
1.00 |
|
R6267:Lrfn1
|
UTSW |
7 |
28459744 |
missense |
probably benign |
0.01 |
|
R6902:Lrfn1
|
UTSW |
7 |
28459813 |
missense |
probably benign |
0.10 |
|
R7059:Lrfn1
|
UTSW |
7 |
28466930 |
missense |
possibly damaging |
0.65 |
|
R7073:Lrfn1
|
UTSW |
7 |
28459972 |
missense |
possibly damaging |
0.94 |
|
R7208:Lrfn1
|
UTSW |
7 |
28467139 |
missense |
probably benign |
|
|
R7402:Lrfn1
|
UTSW |
7 |
28459522 |
missense |
probably damaging |
1.00 |
|
R8378:Lrfn1
|
UTSW |
7 |
28459732 |
missense |
probably benign |
0.26 |
|
Z1176:Lrfn1
|
UTSW |
7 |
28459115 |
missense |
possibly damaging |
0.66 |
|
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| Posted On | 2012-12-06 |
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