Incidental Mutation 'R8192:Lrrc9'
| ID |
635246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
067615-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.209)
|
| Stock # |
R8192 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 72496163 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 13
(I13F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
| AlphaFold |
Q8CDN9 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160394
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161195
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161284
AA Change: I13F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: I13F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:LRR_4
|
77 |
118 |
2.8e-11 |
PFAM |
|
LRR
|
119 |
140 |
8.49e1 |
SMART |
|
LRR
|
141 |
164 |
2.27e1 |
SMART |
|
LRR
|
165 |
187 |
2.09e2 |
SMART |
|
LRRcap
|
210 |
228 |
6.12e1 |
SMART |
|
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
436 |
N/A |
INTRINSIC |
|
LRR
|
706 |
727 |
1.41e2 |
SMART |
|
LRR
|
728 |
749 |
6.78e1 |
SMART |
|
LRR
|
750 |
773 |
7.17e1 |
SMART |
|
LRRcap
|
793 |
811 |
2.26e2 |
SMART |
|
LRR
|
943 |
966 |
2.67e-1 |
SMART |
|
LRR
|
967 |
992 |
1.22e1 |
SMART |
|
LRRcap
|
1031 |
1049 |
4.37e0 |
SMART |
|
low complexity region
|
1109 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161957
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162159
AA Change: I13F
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: I13F
| Domain | Start | End | E-Value | Type |
|---|
|
LRR
|
53 |
74 |
5.39e2 |
SMART |
|
LRR
|
75 |
96 |
1.14e2 |
SMART |
|
LRR
|
97 |
118 |
7.9e-4 |
SMART |
|
LRR
|
119 |
140 |
2.75e-3 |
SMART |
|
LRR
|
141 |
164 |
2.27e1 |
SMART |
|
LRR
|
164 |
185 |
1.87e1 |
SMART |
|
LRRcap
|
210 |
228 |
6.12e1 |
SMART |
|
low complexity region
|
373 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
424 |
436 |
N/A |
INTRINSIC |
|
LRR
|
705 |
726 |
1.41e2 |
SMART |
|
LRR
|
727 |
748 |
6.78e1 |
SMART |
|
LRR
|
749 |
771 |
1.37e1 |
SMART |
|
LRRcap
|
792 |
810 |
2.26e2 |
SMART |
|
LRR
|
898 |
919 |
2.62e1 |
SMART |
|
LRR
|
920 |
941 |
5.17e1 |
SMART |
|
LRR
|
942 |
965 |
2.67e-1 |
SMART |
|
LRR
|
966 |
991 |
1.22e1 |
SMART |
|
LRR
|
1013 |
1032 |
4.42e2 |
SMART |
|
LRRcap
|
1030 |
1048 |
4.37e0 |
SMART |
|
low complexity region
|
1108 |
1119 |
N/A |
INTRINSIC |
|
LRR
|
1128 |
1150 |
2.4e1 |
SMART |
|
LRR
|
1191 |
1209 |
5.7e2 |
SMART |
|
LRR
|
1215 |
1236 |
1.03e-2 |
SMART |
|
LRR
|
1237 |
1260 |
8.48e0 |
SMART |
|
LRR
|
1283 |
1304 |
2.67e-1 |
SMART |
|
Blast:LRR
|
1308 |
1333 |
4e-6 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162179
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000221360
AA Change: I13F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (64/64) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34 |
A |
T |
8: 44,103,970 (GRCm39) |
D558E |
probably damaging |
Het |
| Alox15 |
T |
A |
11: 70,241,736 (GRCm39) |
E48D |
probably benign |
Het |
| Alyref |
T |
C |
11: 120,488,522 (GRCm39) |
E102G |
probably benign |
Het |
| Bach2 |
A |
G |
4: 32,562,294 (GRCm39) |
S254G |
probably benign |
Het |
| Bcl2l13 |
A |
G |
6: 120,853,267 (GRCm39) |
E184G |
possibly damaging |
Het |
| Best1 |
T |
A |
19: 9,963,664 (GRCm39) |
I506F |
possibly damaging |
Het |
| Cd177 |
T |
A |
7: 24,453,727 (GRCm39) |
D388V |
probably benign |
Het |
| Cep350 |
T |
C |
1: 155,816,529 (GRCm39) |
K329E |
possibly damaging |
Het |
| Clasrp |
T |
C |
7: 19,329,387 (GRCm39) |
N65S |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,199,745 (GRCm39) |
R1301G |
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,273 (GRCm39) |
E624G |
probably benign |
Het |
| Cyp21a1 |
A |
T |
17: 35,022,633 (GRCm39) |
Y109N |
probably damaging |
Het |
| Dbf4 |
A |
G |
5: 8,448,134 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,431,002 (GRCm39) |
T846A |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 117,976,181 (GRCm39) |
V2746A |
probably benign |
Het |
| Dnah12 |
G |
A |
14: 26,428,036 (GRCm39) |
A221T |
probably benign |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,623,166 (GRCm39) |
|
probably null |
Het |
| Dpy19l1 |
T |
C |
9: 24,362,023 (GRCm39) |
I119V |
possibly damaging |
Het |
| Dsg1c |
A |
G |
18: 20,399,255 (GRCm39) |
T120A |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,332,145 (GRCm39) |
H397R |
probably benign |
Het |
| Gaa |
G |
T |
11: 119,161,235 (GRCm39) |
A93S |
possibly damaging |
Het |
| Galnt4 |
G |
A |
10: 98,945,118 (GRCm39) |
R281H |
probably benign |
Het |
| Gm3250 |
T |
C |
10: 77,618,291 (GRCm39) |
E29G |
unknown |
Het |
| H13 |
T |
G |
2: 152,511,522 (GRCm39) |
D7E |
probably benign |
Het |
| H60c |
T |
A |
10: 3,209,781 (GRCm39) |
I140F |
probably benign |
Het |
| Hsd3b2 |
T |
C |
3: 98,620,908 (GRCm39) |
N49S |
probably benign |
Het |
| Klhl11 |
G |
T |
11: 100,354,922 (GRCm39) |
P300T |
probably benign |
Het |
| Knop1 |
C |
A |
7: 118,452,369 (GRCm39) |
V117L |
|
Het |
| Lgalsl2 |
T |
A |
7: 5,362,595 (GRCm39) |
D75E |
possibly damaging |
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Macf1 |
A |
G |
4: 123,334,390 (GRCm39) |
S4456P |
probably damaging |
Het |
| Mkrn1 |
A |
T |
6: 39,376,289 (GRCm39) |
V439D |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,305,215 (GRCm39) |
V612D |
|
Het |
| Nrxn3 |
A |
G |
12: 90,171,569 (GRCm39) |
N967D |
probably benign |
Het |
| Oprm1 |
C |
T |
10: 6,788,417 (GRCm39) |
P391S |
probably benign |
Het |
| Or10g7 |
T |
A |
9: 39,905,467 (GRCm39) |
D120E |
probably damaging |
Het |
| Or5d43 |
A |
C |
2: 88,105,288 (GRCm39) |
V35G |
probably damaging |
Het |
| Parp14 |
T |
A |
16: 35,691,584 (GRCm39) |
E47V |
probably benign |
Het |
| Pikfyve |
A |
G |
1: 65,285,554 (GRCm39) |
E931G |
possibly damaging |
Het |
| Plcz1 |
A |
T |
6: 139,968,986 (GRCm39) |
C151S |
probably damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Pramel27 |
G |
A |
4: 143,578,109 (GRCm39) |
W123* |
probably null |
Het |
| Rbm26 |
A |
G |
14: 105,380,125 (GRCm39) |
|
probably null |
Het |
| Rffl |
G |
T |
11: 82,703,549 (GRCm39) |
|
probably null |
Het |
| Sc5d |
T |
C |
9: 42,171,094 (GRCm39) |
I32V |
probably benign |
Het |
| Scube1 |
A |
G |
15: 83,513,583 (GRCm39) |
|
probably null |
Het |
| Shld2 |
A |
T |
14: 33,967,173 (GRCm39) |
S680T |
probably benign |
Het |
| Slc12a6 |
A |
G |
2: 112,181,722 (GRCm39) |
Y714C |
probably damaging |
Het |
| Slc26a3 |
A |
G |
12: 31,518,541 (GRCm39) |
I670V |
probably benign |
Het |
| Slc8a3 |
A |
T |
12: 81,246,455 (GRCm39) |
V866D |
probably damaging |
Het |
| Slco3a1 |
A |
T |
7: 73,970,338 (GRCm39) |
M423K |
probably benign |
Het |
| Smc6 |
A |
G |
12: 11,349,336 (GRCm39) |
E773G |
probably benign |
Het |
| Son |
A |
G |
16: 91,452,437 (GRCm39) |
T395A |
possibly damaging |
Het |
| Ss18l1 |
T |
C |
2: 179,701,155 (GRCm39) |
S290P |
probably damaging |
Het |
| Tcof1 |
A |
C |
18: 60,976,375 (GRCm39) |
V78G |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,733,918 (GRCm39) |
V322M |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,253,811 (GRCm39) |
C753* |
probably null |
Het |
| Trav6n-6 |
T |
A |
14: 53,370,497 (GRCm39) |
F83I |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,524,007 (GRCm39) |
H222R |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Upf1 |
A |
G |
8: 70,793,294 (GRCm39) |
L288P |
probably benign |
Het |
| Zfp442 |
T |
C |
2: 150,250,629 (GRCm39) |
I424M |
unknown |
Het |
| Zfp580 |
T |
C |
7: 5,056,114 (GRCm39) |
V100A |
probably benign |
Het |
| Zfpm1 |
C |
A |
8: 123,058,833 (GRCm39) |
P151Q |
probably damaging |
Het |
| Zfr2 |
C |
T |
10: 81,078,649 (GRCm39) |
P294S |
possibly damaging |
Het |
|
| Other mutations in Lrrc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Lrrc9
|
APN |
12 |
72,533,017 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL00843:Lrrc9
|
APN |
12 |
72,510,191 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01923:Lrrc9
|
APN |
12 |
72,557,186 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02027:Lrrc9
|
APN |
12 |
72,517,108 (GRCm39) |
splice site |
probably benign |
|
|
IGL02271:Lrrc9
|
APN |
12 |
72,557,155 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02398:Lrrc9
|
APN |
12 |
72,513,677 (GRCm39) |
missense |
probably benign |
|
|
IGL02795:Lrrc9
|
APN |
12 |
72,525,542 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02931:Lrrc9
|
APN |
12 |
72,500,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03257:Lrrc9
|
APN |
12 |
72,496,542 (GRCm39) |
missense |
probably benign |
|
|
BB006:Lrrc9
|
UTSW |
12 |
72,533,071 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
BB016:Lrrc9
|
UTSW |
12 |
72,533,071 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02799:Lrrc9
|
UTSW |
12 |
72,553,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0172:Lrrc9
|
UTSW |
12 |
72,510,260 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R0315:Lrrc9
|
UTSW |
12 |
72,502,802 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0492:Lrrc9
|
UTSW |
12 |
72,525,537 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0617:Lrrc9
|
UTSW |
12 |
72,529,788 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0639:Lrrc9
|
UTSW |
12 |
72,533,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0987:Lrrc9
|
UTSW |
12 |
72,557,156 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1325:Lrrc9
|
UTSW |
12 |
72,543,878 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1465:Lrrc9
|
UTSW |
12 |
72,547,533 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1465:Lrrc9
|
UTSW |
12 |
72,547,533 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1479:Lrrc9
|
UTSW |
12 |
72,507,599 (GRCm39) |
nonsense |
probably null |
|
|
R1564:Lrrc9
|
UTSW |
12 |
72,533,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1626:Lrrc9
|
UTSW |
12 |
72,542,435 (GRCm39) |
splice site |
probably null |
|
|
R1632:Lrrc9
|
UTSW |
12 |
72,506,794 (GRCm39) |
splice site |
probably null |
|
|
R1715:Lrrc9
|
UTSW |
12 |
72,524,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Lrrc9
|
UTSW |
12 |
72,502,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1779:Lrrc9
|
UTSW |
12 |
72,502,772 (GRCm39) |
nonsense |
probably null |
|
|
R1866:Lrrc9
|
UTSW |
12 |
72,543,912 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1878:Lrrc9
|
UTSW |
12 |
72,522,938 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1990:Lrrc9
|
UTSW |
12 |
72,544,635 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2361:Lrrc9
|
UTSW |
12 |
72,510,244 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R3752:Lrrc9
|
UTSW |
12 |
72,507,580 (GRCm39) |
nonsense |
probably null |
|
|
R3833:Lrrc9
|
UTSW |
12 |
72,529,765 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Lrrc9
|
UTSW |
12 |
72,513,740 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4651:Lrrc9
|
UTSW |
12 |
72,524,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Lrrc9
|
UTSW |
12 |
72,524,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4659:Lrrc9
|
UTSW |
12 |
72,517,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Lrrc9
|
UTSW |
12 |
72,546,453 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4857:Lrrc9
|
UTSW |
12 |
72,546,466 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5017:Lrrc9
|
UTSW |
12 |
72,553,099 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5163:Lrrc9
|
UTSW |
12 |
72,496,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5279:Lrrc9
|
UTSW |
12 |
72,542,368 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5434:Lrrc9
|
UTSW |
12 |
72,500,862 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5783:Lrrc9
|
UTSW |
12 |
72,502,827 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6021:Lrrc9
|
UTSW |
12 |
72,516,005 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6214:Lrrc9
|
UTSW |
12 |
72,506,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6255:Lrrc9
|
UTSW |
12 |
72,533,797 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6538:Lrrc9
|
UTSW |
12 |
72,547,703 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6563:Lrrc9
|
UTSW |
12 |
72,533,169 (GRCm39) |
splice site |
probably null |
|
|
R6672:Lrrc9
|
UTSW |
12 |
72,520,710 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6919:Lrrc9
|
UTSW |
12 |
72,553,167 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6929:Lrrc9
|
UTSW |
12 |
72,497,546 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7092:Lrrc9
|
UTSW |
12 |
72,510,238 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7150:Lrrc9
|
UTSW |
12 |
72,513,726 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7338:Lrrc9
|
UTSW |
12 |
72,510,305 (GRCm39) |
splice site |
probably null |
|
|
R7398:Lrrc9
|
UTSW |
12 |
72,547,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7477:Lrrc9
|
UTSW |
12 |
72,550,301 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7501:Lrrc9
|
UTSW |
12 |
72,496,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7542:Lrrc9
|
UTSW |
12 |
72,553,094 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7816:Lrrc9
|
UTSW |
12 |
72,542,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7870:Lrrc9
|
UTSW |
12 |
72,532,964 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7929:Lrrc9
|
UTSW |
12 |
72,533,071 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8042:Lrrc9
|
UTSW |
12 |
72,507,680 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8108:Lrrc9
|
UTSW |
12 |
72,500,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8244:Lrrc9
|
UTSW |
12 |
72,546,384 (GRCm39) |
missense |
probably benign |
0.22 |
|
R8333:Lrrc9
|
UTSW |
12 |
72,528,317 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9288:Lrrc9
|
UTSW |
12 |
72,522,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9324:Lrrc9
|
UTSW |
12 |
72,496,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9342:Lrrc9
|
UTSW |
12 |
72,506,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9557:Lrrc9
|
UTSW |
12 |
72,532,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9624:Lrrc9
|
UTSW |
12 |
72,497,586 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9677:Lrrc9
|
UTSW |
12 |
72,497,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Lrrc9
|
UTSW |
12 |
72,543,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrrc9
|
UTSW |
12 |
72,524,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATCAGGGGCCTGTCAATG -3'
(R):5'- CCATTGCACAGACACTGTTTG -3'
Sequencing Primer
(F):5'- GCCACTGTTGCTAGCACGTTAAG -3'
(R):5'- CCATTGCACAGACACTGTTTGAAAAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation