Incidental Mutation 'R3551:Lrfn1'
| ID |
268339 |
| 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 |
040668-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.342)
|
| Stock # |
R3551 (G1)
|
| Quality Score |
115 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
28151405-28167667 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 28159479 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 466
(L466P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139609
(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 |
possibly damaging
Transcript: ENSMUST00000055110
AA Change: L466P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000057645
Gene: ENSMUSG00000030600
AA Change: L466P
| 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 |
possibly damaging
Transcript: ENSMUST00000108288
AA Change: L466P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103923
Gene: ENSMUSG00000030600
AA Change: L466P
| 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 |
possibly damaging
Transcript: ENSMUST00000189877
AA Change: L466P
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139609
Gene: ENSMUSG00000030600
AA Change: L466P
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191267
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
T |
A |
11: 84,152,450 (GRCm39) |
Y866N |
probably damaging |
Het |
| Adam24 |
G |
C |
8: 41,132,632 (GRCm39) |
W33C |
probably benign |
Het |
| Adgrl2 |
A |
T |
3: 148,564,599 (GRCm39) |
V327E |
probably damaging |
Het |
| Aqp7 |
T |
A |
4: 41,045,329 (GRCm39) |
N17I |
probably benign |
Het |
| Bicra |
T |
A |
7: 15,713,658 (GRCm39) |
Q848L |
probably benign |
Het |
| C4b |
T |
C |
17: 34,960,846 (GRCm39) |
E240G |
possibly damaging |
Het |
| Ccni |
T |
C |
5: 93,335,620 (GRCm39) |
S173G |
probably benign |
Het |
| Clca3a2 |
T |
A |
3: 144,508,842 (GRCm39) |
N50I |
probably damaging |
Het |
| Dcaf7 |
A |
G |
11: 105,945,622 (GRCm39) |
T324A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,492,929 (GRCm39) |
R1230H |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,584,813 (GRCm39) |
V176M |
probably damaging |
Het |
| Ect2l |
A |
G |
10: 18,039,141 (GRCm39) |
I339T |
probably damaging |
Het |
| Edc4 |
A |
T |
8: 106,612,126 (GRCm39) |
I138F |
probably damaging |
Het |
| Ercc6l2 |
T |
A |
13: 63,992,409 (GRCm39) |
V401E |
probably damaging |
Het |
| Gm3269 |
T |
A |
14: 16,033,003 (GRCm39) |
V260D |
possibly damaging |
Het |
| Gm4076 |
C |
T |
13: 85,275,269 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4922 |
A |
T |
10: 18,660,244 (GRCm39) |
N159K |
probably benign |
Het |
| Gm5134 |
G |
T |
10: 75,836,281 (GRCm39) |
A421S |
probably benign |
Het |
| Hrc |
G |
C |
7: 44,985,757 (GRCm39) |
E303Q |
possibly damaging |
Het |
| Ipo4 |
A |
G |
14: 55,870,560 (GRCm39) |
V288A |
probably benign |
Het |
| Kng2 |
A |
G |
16: 22,830,745 (GRCm39) |
|
probably null |
Het |
| Magi1 |
T |
A |
6: 93,676,610 (GRCm39) |
K916N |
probably damaging |
Het |
| Mms19 |
T |
C |
19: 41,938,237 (GRCm39) |
T720A |
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,415,072 (GRCm39) |
T2673A |
possibly damaging |
Het |
| Myo15a |
C |
T |
11: 60,400,489 (GRCm39) |
A1767V |
possibly damaging |
Het |
| Npas2 |
A |
T |
1: 39,326,643 (GRCm39) |
M43L |
probably benign |
Het |
| Nup43 |
A |
G |
10: 7,550,778 (GRCm39) |
D216G |
possibly damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,678 (GRCm39) |
I44V |
probably benign |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pcdhga6 |
G |
T |
18: 37,841,270 (GRCm39) |
R330L |
probably benign |
Het |
| Pear1 |
A |
G |
3: 87,665,439 (GRCm39) |
F145L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,569,302 (GRCm39) |
S355P |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 32,985,963 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
T |
C |
5: 21,194,047 (GRCm39) |
K742E |
possibly damaging |
Het |
| Ryr1 |
T |
A |
7: 28,756,422 (GRCm39) |
Q3464L |
probably damaging |
Het |
| Sema4c |
G |
C |
1: 36,592,804 (GRCm39) |
T138S |
probably benign |
Het |
| Slc4a2 |
C |
T |
5: 24,635,099 (GRCm39) |
T168M |
probably benign |
Het |
| Slco1a7 |
T |
C |
6: 141,654,322 (GRCm39) |
K647E |
probably benign |
Het |
| Spice1 |
G |
T |
16: 44,178,232 (GRCm39) |
S85I |
probably damaging |
Het |
| Thrb |
T |
A |
14: 17,963,214 (GRCm38) |
I59N |
probably damaging |
Het |
| Trav7-1 |
A |
G |
14: 52,892,756 (GRCm39) |
D103G |
probably damaging |
Het |
| Ubap2l |
G |
T |
3: 89,922,758 (GRCm39) |
T766N |
unknown |
Het |
| Zfp692 |
C |
T |
11: 58,200,254 (GRCm39) |
T170I |
possibly damaging |
Het |
| Zfp704 |
A |
G |
3: 9,539,585 (GRCm39) |
V255A |
probably damaging |
Het |
| Zfp759 |
T |
C |
13: 67,287,031 (GRCm39) |
V194A |
probably benign |
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 |
|
R3000:Lrfn1
|
UTSW |
7 |
28,166,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CACTGAACCTGGTTCTTCTGACATC -3'
(R):5'- CTGCACTGGCTCATGCTAAG -3'
Sequencing Primer
(F):5'- TTCTGACATCGCCACACCAGG -3'
(R):5'- CTGGAACTAAGCAAGGTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation