Incidental Mutation 'IGL02795:Lrrc9'
ID |
359936 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc9
|
Ensembl Gene |
ENSMUSG00000021090 |
Gene Name |
leucine rich repeat containing 9 |
Synonyms |
4921529O18Rik, 4930432K16Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
IGL02795
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72525542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 830
(T830M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152125
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161284]
[ENSMUST00000162159]
[ENSMUST00000221360]
|
AlphaFold |
Q8CDN9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161195
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161284
AA Change: T830M
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124602 Gene: ENSMUSG00000021090 AA Change: T830M
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: ENSMUST00000161547
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161957
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162159
AA Change: T829M
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124394 Gene: ENSMUSG00000021090 AA Change: T829M
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: ENSMUST00000196758
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000221360
AA Change: T830M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
G |
1: 71,327,907 (GRCm39) |
L1391P |
probably damaging |
Het |
Abcc3 |
G |
A |
11: 94,252,468 (GRCm39) |
|
probably benign |
Het |
Acvr1 |
A |
G |
2: 58,352,964 (GRCm39) |
I332T |
probably damaging |
Het |
Atp8a2 |
C |
T |
14: 60,271,191 (GRCm39) |
V247M |
probably damaging |
Het |
Btn1a1 |
T |
C |
13: 23,644,786 (GRCm39) |
|
probably null |
Het |
Btnl9 |
A |
T |
11: 49,065,694 (GRCm39) |
|
probably benign |
Het |
Dbx1 |
T |
A |
7: 49,286,325 (GRCm39) |
I47F |
probably benign |
Het |
Dennd2b |
T |
C |
7: 109,155,571 (GRCm39) |
Y393C |
probably damaging |
Het |
Dnaja3 |
A |
G |
16: 4,507,937 (GRCm39) |
|
probably benign |
Het |
Dnmt1 |
T |
C |
9: 20,838,407 (GRCm39) |
S220G |
probably benign |
Het |
Dock9 |
A |
T |
14: 121,877,390 (GRCm39) |
M451K |
probably benign |
Het |
Eml3 |
A |
G |
19: 8,911,142 (GRCm39) |
Y257C |
probably benign |
Het |
Fam3d |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
Fbxw19 |
C |
A |
9: 109,324,886 (GRCm39) |
M10I |
possibly damaging |
Het |
Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
Galnt5 |
C |
A |
2: 57,917,883 (GRCm39) |
P707H |
probably damaging |
Het |
Gba2 |
G |
T |
4: 43,578,331 (GRCm39) |
P6Q |
probably damaging |
Het |
Gm13199 |
A |
G |
2: 5,867,484 (GRCm39) |
|
probably benign |
Het |
Gpr45 |
C |
T |
1: 43,071,653 (GRCm39) |
R99C |
possibly damaging |
Het |
Hecw1 |
G |
A |
13: 14,497,102 (GRCm39) |
S302L |
probably damaging |
Het |
Hrg |
T |
C |
16: 22,776,303 (GRCm39) |
|
probably benign |
Het |
Lama1 |
A |
G |
17: 68,045,889 (GRCm39) |
|
probably null |
Het |
Lgr4 |
T |
C |
2: 109,838,555 (GRCm39) |
|
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
Mms19 |
C |
T |
19: 41,940,845 (GRCm39) |
|
probably null |
Het |
Nectin1 |
A |
G |
9: 43,714,849 (GRCm39) |
S362G |
probably benign |
Het |
Nlrc3 |
G |
T |
16: 3,783,149 (GRCm39) |
H87N |
probably damaging |
Het |
Or1e17 |
G |
A |
11: 73,831,755 (GRCm39) |
V228I |
probably benign |
Het |
Or2ah1 |
T |
A |
2: 85,653,856 (GRCm39) |
C180* |
probably null |
Het |
Or4b13 |
A |
G |
2: 90,082,906 (GRCm39) |
L142P |
probably damaging |
Het |
Or52a20 |
T |
A |
7: 103,366,090 (GRCm39) |
F96L |
probably benign |
Het |
Or5h17 |
G |
T |
16: 58,820,640 (GRCm39) |
L197F |
possibly damaging |
Het |
Pcsk1 |
G |
T |
13: 75,260,739 (GRCm39) |
G321C |
probably damaging |
Het |
Poglut3 |
A |
G |
9: 53,303,405 (GRCm39) |
D99G |
probably damaging |
Het |
Prrc2c |
G |
T |
1: 162,541,868 (GRCm39) |
P374T |
probably benign |
Het |
Rusc1 |
A |
T |
3: 88,999,257 (GRCm39) |
L175Q |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,610,076 (GRCm39) |
N4250S |
probably benign |
Het |
Scara5 |
A |
C |
14: 65,968,129 (GRCm39) |
N134T |
possibly damaging |
Het |
Sema4d |
T |
C |
13: 51,857,447 (GRCm39) |
K595R |
probably benign |
Het |
Serpinb6a |
A |
C |
13: 34,115,576 (GRCm39) |
L15R |
probably damaging |
Het |
Setdb1 |
A |
T |
3: 95,234,684 (GRCm39) |
N1006K |
probably damaging |
Het |
Slc18a2 |
G |
A |
19: 59,262,922 (GRCm39) |
|
probably benign |
Het |
Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
Slc25a27 |
T |
A |
17: 43,958,003 (GRCm39) |
Y269F |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,395,782 (GRCm39) |
D611V |
probably benign |
Het |
Spag6 |
G |
T |
2: 18,737,894 (GRCm39) |
V255F |
probably benign |
Het |
Svep1 |
C |
A |
4: 58,123,223 (GRCm39) |
G698W |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,013,323 (GRCm39) |
L2839P |
probably damaging |
Het |
Tfb2m |
T |
C |
1: 179,373,524 (GRCm39) |
E58G |
possibly damaging |
Het |
Trim24 |
A |
T |
6: 37,896,324 (GRCm39) |
E260D |
probably damaging |
Het |
Ugt2b1 |
T |
A |
5: 87,065,560 (GRCm39) |
D493V |
probably damaging |
Het |
Vmn1r27 |
A |
G |
6: 58,192,287 (GRCm39) |
V189A |
possibly damaging |
Het |
Vmn2r91 |
A |
G |
17: 18,305,539 (GRCm39) |
Q74R |
probably benign |
Het |
Vps25 |
A |
G |
11: 101,146,916 (GRCm39) |
Y64C |
probably damaging |
Het |
Xirp2 |
G |
A |
2: 67,339,480 (GRCm39) |
G574S |
probably damaging |
Het |
Ythdc2 |
A |
G |
18: 44,970,505 (GRCm39) |
E273G |
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 |
|
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 |
R8192:Lrrc9
|
UTSW |
12 |
72,496,163 (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 |
|
Posted On |
2015-12-18 |