Incidental Mutation 'R3000:Lrfn1'
| ID |
257250 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3000 (G1)
|
| Quality Score |
144 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28151405-28167667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28166832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 742
(G742E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040531]
[ENSMUST00000108288]
|
| 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: ENSMUST00000108288
AA Change: G742E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: G742E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ank1 |
A |
G |
8: 23,609,447 (GRCm39) |
K1364E |
probably damaging |
Het |
| Ankrd27 |
T |
A |
7: 35,307,755 (GRCm39) |
N331K |
probably damaging |
Het |
| Bco2 |
C |
A |
9: 50,450,229 (GRCm39) |
D324Y |
probably damaging |
Het |
| Cpne1 |
A |
G |
2: 155,915,342 (GRCm39) |
*211R |
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Khdrbs1 |
A |
T |
4: 129,619,456 (GRCm39) |
H228Q |
probably damaging |
Het |
| Lrrc45 |
T |
A |
11: 120,609,273 (GRCm39) |
D377E |
probably benign |
Het |
| Marf1 |
T |
A |
16: 13,960,505 (GRCm39) |
Y513F |
possibly damaging |
Het |
| Mcoln3 |
T |
A |
3: 145,839,662 (GRCm39) |
I338N |
possibly damaging |
Het |
| Mep1b |
G |
A |
18: 21,226,361 (GRCm39) |
G408S |
probably damaging |
Het |
| Pdlim5 |
C |
A |
3: 142,017,892 (GRCm39) |
Q125H |
probably damaging |
Het |
| Peg10 |
CCAACAACAACAACAACAACAACA |
CCAACAACAACAACAACAACA |
6: 4,754,276 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
G |
A |
17: 24,813,460 (GRCm39) |
R4000H |
probably damaging |
Het |
| Ripor3 |
A |
T |
2: 167,833,100 (GRCm39) |
Y357N |
probably damaging |
Het |
| Smchd1 |
A |
T |
17: 71,670,033 (GRCm39) |
D1679E |
probably benign |
Het |
| Stac3 |
C |
T |
10: 127,344,016 (GRCm39) |
R305C |
probably benign |
Het |
| Tex10 |
A |
T |
4: 48,459,393 (GRCm39) |
|
probably null |
Het |
| Ttc21a |
T |
C |
9: 119,781,320 (GRCm39) |
Y498H |
probably benign |
Het |
| Txnrd2 |
T |
C |
16: 18,273,263 (GRCm39) |
F239S |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,360,949 (GRCm39) |
L173Q |
probably damaging |
Het |
| Zfhx4 |
T |
A |
3: 5,468,714 (GRCm39) |
N2982K |
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 |
|
|
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 |
|
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'- AACGCTAGCTCTGGTTCCTG -3'
(R):5'- CCAGATACAAGGAATGGGCC -3'
Sequencing Primer
(F):5'- CTCTGGTTCCTGGGGGAGC -3'
(R):5'- ATACAAGGAATGGGCCCCTCG -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation