Incidental Mutation 'R6079:Lrrc19'
| ID |
482849 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc19
|
| Ensembl Gene |
ENSMUSG00000049799 |
| Gene Name |
leucine rich repeat containing 19 |
| Synonyms |
9130022A01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R6079 (G1)
|
| Quality Score |
102.008 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
94524890-94538381 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 94531580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 11
(F11I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030311]
[ENSMUST00000053419]
[ENSMUST00000107101]
[ENSMUST00000107104]
|
| AlphaFold |
Q8BZT5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030311
|
| SMART Domains |
Protein: ENSMUSP00000030311
Gene: ENSMUSG00000028576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
382 |
N/A |
INTRINSIC |
|
coiled coil region
|
430 |
490 |
N/A |
INTRINSIC |
|
coiled coil region
|
512 |
546 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000053419
AA Change: F11I
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000056094
Gene: ENSMUSG00000049799
AA Change: F11I
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
69 |
93 |
3.36e2 |
SMART |
|
LRR
|
94 |
117 |
4.32e0 |
SMART |
|
LRR
|
118 |
141 |
1.71e1 |
SMART |
|
LRR
|
142 |
166 |
1.09e2 |
SMART |
|
LRRCT
|
174 |
225 |
1.24e-6 |
SMART |
|
Pfam:LRR19-TM
|
250 |
364 |
8.1e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107101
AA Change: F11I
PolyPhen 2
Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000102718
Gene: ENSMUSG00000049799
AA Change: F11I
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
69 |
93 |
3.36e2 |
SMART |
|
LRR
|
94 |
117 |
4.32e0 |
SMART |
|
LRR
|
118 |
141 |
1.71e1 |
SMART |
|
LRR
|
142 |
166 |
1.09e2 |
SMART |
|
LRRCT
|
174 |
225 |
1.24e-6 |
SMART |
|
Pfam:LRR19-TM
|
245 |
364 |
9.3e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107104
|
| SMART Domains |
Protein: ENSMUSP00000102721
Gene: ENSMUSG00000028576
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
22 |
33 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
62 |
N/A |
INTRINSIC |
|
coiled coil region
|
98 |
271 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
352 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
| Abcc8 |
T |
C |
7: 45,755,268 (GRCm39) |
M1511V |
probably benign |
Het |
| Adamts2 |
T |
A |
11: 50,647,533 (GRCm39) |
I302N |
probably damaging |
Het |
| Adgra2 |
G |
A |
8: 27,604,457 (GRCm39) |
A511T |
probably damaging |
Het |
| Anxa10 |
C |
A |
8: 62,530,960 (GRCm39) |
M83I |
probably benign |
Het |
| Atp2b4 |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT |
1: 133,629,440 (GRCm39) |
|
probably benign |
Het |
| Cdc20b |
T |
C |
13: 113,220,576 (GRCm39) |
F485S |
probably damaging |
Het |
| Edc4 |
C |
T |
8: 106,614,180 (GRCm39) |
R19C |
probably benign |
Het |
| Fam90a1b |
T |
C |
X: 93,400,191 (GRCm39) |
N213S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,006,400 (GRCm39) |
E356G |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Msl1 |
G |
T |
11: 98,689,519 (GRCm39) |
G9C |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,621 (GRCm39) |
|
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,714,997 (GRCm39) |
W1558* |
probably null |
Het |
| Or5p81 |
T |
A |
7: 108,267,412 (GRCm39) |
V263E |
probably damaging |
Het |
| Pgk1 |
C |
A |
X: 105,238,098 (GRCm39) |
L85I |
possibly damaging |
Het |
| Ppp4r1 |
G |
A |
17: 66,121,343 (GRCm39) |
V268I |
possibly damaging |
Het |
| Rad23b |
C |
T |
4: 55,370,400 (GRCm39) |
A142V |
probably damaging |
Het |
| Satl1 |
T |
C |
X: 111,315,613 (GRCm39) |
T281A |
probably benign |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Synrg |
A |
G |
11: 83,915,126 (GRCm39) |
E1044G |
probably damaging |
Het |
| Syt12 |
T |
C |
19: 4,506,896 (GRCm39) |
D83G |
probably benign |
Het |
| Taf4b |
T |
C |
18: 14,955,255 (GRCm39) |
C603R |
possibly damaging |
Het |
| Tbx5 |
T |
C |
5: 120,021,211 (GRCm39) |
S406P |
probably benign |
Het |
| Tfe3 |
T |
C |
X: 7,637,288 (GRCm39) |
L231P |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,653,319 (GRCm39) |
V528D |
possibly damaging |
Het |
|
| Other mutations in Lrrc19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01640:Lrrc19
|
APN |
4 |
94,526,745 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02585:Lrrc19
|
APN |
4 |
94,531,562 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0087:Lrrc19
|
UTSW |
4 |
94,529,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0629:Lrrc19
|
UTSW |
4 |
94,526,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1172:Lrrc19
|
UTSW |
4 |
94,526,626 (GRCm39) |
nonsense |
probably null |
|
|
R1572:Lrrc19
|
UTSW |
4 |
94,526,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1576:Lrrc19
|
UTSW |
4 |
94,527,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1589:Lrrc19
|
UTSW |
4 |
94,529,187 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2107:Lrrc19
|
UTSW |
4 |
94,527,531 (GRCm39) |
missense |
probably benign |
|
|
R4734:Lrrc19
|
UTSW |
4 |
94,526,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4932:Lrrc19
|
UTSW |
4 |
94,529,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6969:Lrrc19
|
UTSW |
4 |
94,527,610 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7293:Lrrc19
|
UTSW |
4 |
94,526,627 (GRCm39) |
missense |
probably benign |
0.07 |
|
R7596:Lrrc19
|
UTSW |
4 |
94,531,592 (GRCm39) |
missense |
probably benign |
|
|
R7914:Lrrc19
|
UTSW |
4 |
94,526,537 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8333:Lrrc19
|
UTSW |
4 |
94,527,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9468:Lrrc19
|
UTSW |
4 |
94,526,521 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9484:Lrrc19
|
UTSW |
4 |
94,531,573 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCAGAGGTTACAGAATTTTAG -3'
(R):5'- AAACCCTGAACCTCAGTGTC -3'
Sequencing Primer
(F):5'- TAGCTGCTAAGACATCTCACTGG -3'
(R):5'- TGAACCTCAGTGTCCACAGG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation