Incidental Mutation 'IGL02799:Lrrc9'
ID |
392297 |
Institutional Source |
Beutler Lab
|
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 # |
IGL02799 (G1)
|
Quality Score |
82 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72553178 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 1360
(E1360G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124394
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000162159]
[ENSMUST00000220791]
[ENSMUST00000221360]
|
AlphaFold |
Q8CDN9 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161195
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162159
AA Change: E1360G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124394 Gene: ENSMUSG00000021090 AA Change: E1360G
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 |
probably damaging
Transcript: ENSMUST00000220791
AA Change: E274G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000221360
|
Meta Mutation Damage Score |
0.1610 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
99% (67/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
A |
G |
6: 86,083,234 (GRCm39) |
N444S |
possibly damaging |
Het |
Atp2b2 |
A |
T |
6: 113,739,813 (GRCm39) |
Y823* |
probably null |
Het |
Atp2c1 |
A |
C |
9: 105,290,242 (GRCm39) |
|
probably benign |
Het |
Capns1 |
A |
T |
7: 29,891,644 (GRCm39) |
D133E |
probably benign |
Het |
Cast |
A |
G |
13: 74,884,871 (GRCm39) |
V361A |
probably damaging |
Het |
Cd69 |
G |
A |
6: 129,245,223 (GRCm39) |
|
probably benign |
Het |
Celsr2 |
T |
A |
3: 108,321,378 (GRCm39) |
D478V |
probably damaging |
Het |
Cenpf |
T |
C |
1: 189,391,849 (GRCm39) |
E661G |
probably damaging |
Het |
Chrna1 |
A |
G |
2: 73,404,985 (GRCm39) |
|
probably benign |
Het |
Clec5a |
C |
A |
6: 40,554,983 (GRCm39) |
V138F |
probably damaging |
Het |
Ctsj |
T |
A |
13: 61,151,634 (GRCm39) |
I95F |
probably benign |
Het |
Dcaf1 |
T |
A |
9: 106,735,139 (GRCm39) |
S696T |
probably benign |
Het |
Dcp1a |
T |
C |
14: 30,241,636 (GRCm39) |
|
probably null |
Het |
Dnajc14 |
C |
T |
10: 128,642,725 (GRCm39) |
P216S |
possibly damaging |
Het |
Dst |
T |
C |
1: 34,218,930 (GRCm39) |
I1790T |
possibly damaging |
Het |
Ehmt1 |
A |
T |
2: 24,705,818 (GRCm39) |
H789Q |
probably damaging |
Het |
Exoc7 |
A |
T |
11: 116,192,007 (GRCm39) |
L188Q |
probably damaging |
Het |
Faap100 |
A |
G |
11: 120,261,561 (GRCm39) |
L823P |
probably damaging |
Het |
Fdxacb1 |
T |
A |
9: 50,683,896 (GRCm39) |
S620T |
probably benign |
Het |
Fhl2 |
C |
T |
1: 43,167,562 (GRCm39) |
R177Q |
probably benign |
Het |
Gars1 |
C |
A |
6: 55,040,084 (GRCm39) |
T337K |
probably damaging |
Het |
Ggta1 |
A |
T |
2: 35,312,211 (GRCm39) |
F56I |
probably damaging |
Het |
Gm10715 |
A |
C |
9: 3,038,062 (GRCm39) |
|
probably benign |
Het |
Gpr108 |
T |
A |
17: 57,544,482 (GRCm39) |
I343F |
probably damaging |
Het |
Gpr12 |
T |
A |
5: 146,520,629 (GRCm39) |
I98F |
possibly damaging |
Het |
Hk2 |
A |
G |
6: 82,737,219 (GRCm39) |
L3P |
probably damaging |
Het |
Imp4 |
C |
A |
1: 34,479,258 (GRCm39) |
|
probably benign |
Het |
Insrr |
G |
A |
3: 87,720,888 (GRCm39) |
V1049M |
probably damaging |
Het |
Klhl24 |
T |
C |
16: 19,933,331 (GRCm39) |
V314A |
probably damaging |
Het |
Krt32 |
A |
T |
11: 99,978,733 (GRCm39) |
V107D |
possibly damaging |
Het |
Krtap5-1 |
G |
A |
7: 141,850,242 (GRCm39) |
Q189* |
probably null |
Het |
Mdc1 |
G |
T |
17: 36,157,083 (GRCm39) |
L163F |
possibly damaging |
Het |
Mroh1 |
T |
G |
15: 76,276,661 (GRCm39) |
|
probably null |
Het |
Myh8 |
A |
G |
11: 67,192,418 (GRCm39) |
|
probably benign |
Het |
Ndufab1 |
A |
T |
7: 121,692,949 (GRCm39) |
|
probably benign |
Het |
Nek3 |
A |
G |
8: 22,648,735 (GRCm39) |
|
probably benign |
Het |
Ngly1 |
A |
T |
14: 16,260,636 (GRCm38) |
I107L |
probably benign |
Het |
Nkain4 |
A |
T |
2: 180,577,728 (GRCm39) |
|
probably null |
Het |
Nsd2 |
T |
A |
5: 34,022,132 (GRCm39) |
|
probably benign |
Het |
Or4n4 |
A |
G |
14: 50,518,801 (GRCm39) |
I303T |
probably benign |
Het |
Or5e1 |
A |
T |
7: 108,354,830 (GRCm39) |
M256L |
probably benign |
Het |
Or5t9 |
A |
T |
2: 86,659,300 (GRCm39) |
H68L |
probably damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,314 (GRCm39) |
Y64N |
probably damaging |
Het |
Or8b12 |
T |
A |
9: 37,657,805 (GRCm39) |
I125N |
probably damaging |
Het |
Pcnt |
G |
A |
10: 76,248,417 (GRCm39) |
Q901* |
probably null |
Het |
Pctp |
C |
A |
11: 89,881,913 (GRCm39) |
W81C |
probably damaging |
Het |
Pik3r5 |
A |
T |
11: 68,386,773 (GRCm39) |
I801F |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,299,942 (GRCm39) |
N193K |
probably benign |
Het |
Rab11fip1 |
A |
T |
8: 27,642,788 (GRCm39) |
D670E |
probably benign |
Het |
Racgap1 |
T |
C |
15: 99,530,628 (GRCm39) |
K201E |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,316,086 (GRCm39) |
F2269L |
probably damaging |
Het |
Rint1 |
C |
A |
5: 24,024,478 (GRCm39) |
A760D |
possibly damaging |
Het |
Ryr2 |
G |
A |
13: 11,680,848 (GRCm39) |
P3166S |
probably damaging |
Het |
Snap29 |
A |
G |
16: 17,240,367 (GRCm39) |
N158D |
probably benign |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
St6galnac1 |
G |
T |
11: 116,657,473 (GRCm39) |
|
probably benign |
Het |
Strc |
G |
A |
2: 121,209,717 (GRCm39) |
T202I |
probably damaging |
Het |
Stxbp4 |
A |
G |
11: 90,385,426 (GRCm39) |
|
probably null |
Het |
Syne1 |
A |
T |
10: 5,309,059 (GRCm39) |
M650K |
probably damaging |
Het |
Tbc1d2b |
C |
T |
9: 90,105,487 (GRCm39) |
|
probably benign |
Het |
Tcfl5 |
A |
T |
2: 180,280,419 (GRCm39) |
I328N |
possibly damaging |
Het |
Tenm2 |
A |
G |
11: 36,164,235 (GRCm39) |
Y337H |
probably damaging |
Het |
Tgfbr2 |
T |
C |
9: 115,939,204 (GRCm39) |
K233E |
possibly damaging |
Het |
Tnk2 |
T |
C |
16: 32,484,699 (GRCm39) |
|
probably benign |
Het |
Trbv13-2 |
A |
G |
6: 41,098,471 (GRCm39) |
|
probably benign |
Het |
Tut4 |
T |
C |
4: 108,370,725 (GRCm39) |
Y875H |
probably benign |
Het |
Usp6nl |
T |
A |
2: 6,432,360 (GRCm39) |
|
probably benign |
Het |
Vmn2r62 |
A |
G |
7: 42,437,396 (GRCm39) |
S363P |
possibly damaging |
Het |
Vnn3 |
T |
C |
10: 23,727,869 (GRCm39) |
I93T |
possibly damaging |
Het |
Ylpm1 |
A |
G |
12: 85,091,258 (GRCm39) |
D1108G |
probably damaging |
Het |
Zbtb17 |
G |
A |
4: 141,190,691 (GRCm39) |
G170S |
probably benign |
Het |
Zfyve26 |
T |
C |
12: 79,320,084 (GRCm39) |
E1087G |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTGTGGCCATTCCCAAGC -3'
(R):5'- TTCTATAAACATGGCATGTCCCAG -3'
Sequencing Primer
(F):5'- GCCATTCCCAAGCTGCCTTC -3'
(R):5'- TGTCATTTGAAGTACTGAACAGTG -3'
|
Posted On |
2016-06-09 |