Incidental Mutation 'IGL01565:Lrfn1'
ID |
90971 |
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: 0.342)
|
Stock # |
IGL01565
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
28151405-28167667 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28158194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 38
(C38R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140537
(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 damaging
Transcript: ENSMUST00000055110
AA Change: C38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000057645 Gene: ENSMUSG00000030600 AA Change: C38R
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: C38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103923 Gene: ENSMUSG00000030600 AA Change: C38R
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: C38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000139609 Gene: ENSMUSG00000030600 AA Change: C38R
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: ENSMUST00000190954
AA Change: C38R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000140537 Gene: ENSMUSG00000030600 AA Change: C38R
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
A |
G |
10: 100,439,222 (GRCm39) |
T36A |
probably damaging |
Het |
Ankrd35 |
A |
G |
3: 96,592,101 (GRCm39) |
M796V |
probably damaging |
Het |
Brpf1 |
A |
T |
6: 113,293,611 (GRCm39) |
Q560L |
probably damaging |
Het |
Dbil5 |
T |
G |
11: 76,109,091 (GRCm39) |
|
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,924,655 (GRCm39) |
K2200E |
possibly damaging |
Het |
Gtf2i |
T |
C |
5: 134,284,767 (GRCm39) |
I471V |
probably damaging |
Het |
Has3 |
T |
A |
8: 107,601,077 (GRCm39) |
W180R |
probably benign |
Het |
Lrsam1 |
C |
T |
2: 32,826,507 (GRCm39) |
A455T |
probably damaging |
Het |
Mettl2 |
C |
A |
11: 105,017,364 (GRCm39) |
D14E |
probably benign |
Het |
Mocs1 |
G |
A |
17: 49,759,348 (GRCm39) |
R364Q |
probably benign |
Het |
Ndst2 |
A |
T |
14: 20,778,274 (GRCm39) |
V435E |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,207,306 (GRCm39) |
|
probably benign |
Het |
Pigr |
A |
C |
1: 130,772,211 (GRCm39) |
D143A |
possibly damaging |
Het |
Polq |
A |
C |
16: 36,833,475 (GRCm39) |
N56T |
probably benign |
Het |
Prmt7 |
T |
G |
8: 106,977,041 (GRCm39) |
D584E |
probably damaging |
Het |
R3hdm1 |
A |
T |
1: 128,114,553 (GRCm39) |
Q511H |
probably damaging |
Het |
Rbm33 |
T |
C |
5: 28,596,077 (GRCm39) |
|
probably benign |
Het |
Rdh19 |
T |
G |
10: 127,695,464 (GRCm39) |
M226R |
probably benign |
Het |
Rock2 |
G |
A |
12: 17,003,318 (GRCm39) |
D386N |
possibly damaging |
Het |
Slc7a2 |
A |
G |
8: 41,352,275 (GRCm39) |
T96A |
possibly damaging |
Het |
Spata2 |
A |
G |
2: 167,326,214 (GRCm39) |
S202P |
probably damaging |
Het |
Swsap1 |
T |
A |
9: 21,868,524 (GRCm39) |
D265E |
possibly damaging |
Het |
Tdrd3 |
A |
T |
14: 87,709,668 (GRCm39) |
I117L |
probably benign |
Het |
Ticrr |
A |
G |
7: 79,344,296 (GRCm39) |
D1387G |
probably benign |
Het |
Tnfaip6 |
A |
G |
2: 51,945,846 (GRCm39) |
S231G |
probably damaging |
Het |
Trim50 |
T |
A |
5: 135,396,355 (GRCm39) |
D434E |
probably benign |
Het |
Tyw5 |
T |
C |
1: 57,433,240 (GRCm39) |
Y105C |
probably damaging |
Het |
Usp50 |
G |
T |
2: 126,619,888 (GRCm39) |
C141* |
probably null |
Het |
Zfp647 |
A |
T |
15: 76,795,870 (GRCm39) |
C263* |
probably null |
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 |
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 |
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 |
2013-12-09 |