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 |
4930432K16Rik, 4921529O18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.161)
|
| Stock # |
IGL02795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
72441866-72530750 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72478768 bp (GRCm38)
|
| 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: 71,288,748 (GRCm38) |
L1391P |
probably damaging |
Het |
| Abcc3 |
G |
A |
11: 94,361,642 (GRCm38) |
|
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,462,952 (GRCm38) |
I332T |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,033,742 (GRCm38) |
V247M |
probably damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,460,616 (GRCm38) |
|
probably null |
Het |
| Btnl9 |
A |
T |
11: 49,174,867 (GRCm38) |
|
probably benign |
Het |
| Dbx1 |
T |
A |
7: 49,636,577 (GRCm38) |
I47F |
probably benign |
Het |
| Dnaja3 |
A |
G |
16: 4,690,073 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,927,111 (GRCm38) |
S220G |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,639,978 (GRCm38) |
M451K |
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,933,778 (GRCm38) |
Y257C |
probably benign |
Het |
| Fbxw19 |
C |
A |
9: 109,495,818 (GRCm38) |
M10I |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,203,613 (GRCm38) |
R983W |
unknown |
Het |
| Galnt5 |
C |
A |
2: 58,027,871 (GRCm38) |
P707H |
probably damaging |
Het |
| Gba2 |
G |
T |
4: 43,578,331 (GRCm38) |
P6Q |
probably damaging |
Het |
| Gm13199 |
A |
G |
2: 5,862,673 (GRCm38) |
|
probably benign |
Het |
| Gpr45 |
C |
T |
1: 43,032,493 (GRCm38) |
R99C |
possibly damaging |
Het |
| Hecw1 |
G |
A |
13: 14,322,517 (GRCm38) |
S302L |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,957,553 (GRCm38) |
|
probably benign |
Het |
| Kdelc2 |
A |
G |
9: 53,392,105 (GRCm38) |
D99G |
probably damaging |
Het |
| Lama1 |
A |
G |
17: 67,738,894 (GRCm38) |
|
probably null |
Het |
| Lgr4 |
T |
C |
2: 110,008,210 (GRCm38) |
|
probably benign |
Het |
| Mdga2 |
T |
C |
12: 66,689,432 (GRCm38) |
T341A |
probably benign |
Het |
| Mms19 |
C |
T |
19: 41,952,406 (GRCm38) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,803,552 (GRCm38) |
S362G |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,965,285 (GRCm38) |
H87N |
probably damaging |
Het |
| Oit1 |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
| Olfr1018 |
T |
A |
2: 85,823,512 (GRCm38) |
C180* |
probably null |
Het |
| Olfr142 |
A |
G |
2: 90,252,562 (GRCm38) |
L142P |
probably damaging |
Het |
| Olfr183 |
G |
T |
16: 59,000,277 (GRCm38) |
L197F |
possibly damaging |
Het |
| Olfr23 |
G |
A |
11: 73,940,929 (GRCm38) |
V228I |
probably benign |
Het |
| Olfr243 |
T |
A |
7: 103,716,883 (GRCm38) |
F96L |
probably benign |
Het |
| Pcsk1 |
G |
T |
13: 75,112,620 (GRCm38) |
G321C |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,714,299 (GRCm38) |
P374T |
probably benign |
Het |
| Rusc1 |
A |
T |
3: 89,091,950 (GRCm38) |
L175Q |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,595,190 (GRCm38) |
N4250S |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,730,680 (GRCm38) |
N134T |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,703,411 (GRCm38) |
K595R |
probably benign |
Het |
| Serpinb6a |
A |
C |
13: 33,931,593 (GRCm38) |
L15R |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,327,373 (GRCm38) |
N1006K |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,274,490 (GRCm38) |
|
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,400,895 (GRCm38) |
C139Y |
probably damaging |
Het |
| Slc25a27 |
T |
A |
17: 43,647,112 (GRCm38) |
Y269F |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,575,419 (GRCm38) |
D611V |
probably benign |
Het |
| Spag6 |
G |
T |
2: 18,733,083 (GRCm38) |
V255F |
probably benign |
Het |
| St5 |
T |
C |
7: 109,556,364 (GRCm38) |
Y393C |
probably damaging |
Het |
| Svep1 |
C |
A |
4: 58,123,223 (GRCm38) |
G698W |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,966,549 (GRCm38) |
L2839P |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,545,959 (GRCm38) |
E58G |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,919,389 (GRCm38) |
E260D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 86,917,701 (GRCm38) |
D493V |
probably damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,215,302 (GRCm38) |
V189A |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,085,277 (GRCm38) |
Q74R |
probably benign |
Het |
| Vps25 |
A |
G |
11: 101,256,090 (GRCm38) |
Y64C |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,509,136 (GRCm38) |
G574S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,837,438 (GRCm38) |
E273G |
possibly damaging |
Het |
|
| Other mutations in Lrrc9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00092:Lrrc9
|
APN |
12 |
72,486,243 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
IGL00843:Lrrc9
|
APN |
12 |
72,463,417 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
IGL01923:Lrrc9
|
APN |
12 |
72,510,412 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
IGL02027:Lrrc9
|
APN |
12 |
72,470,334 (GRCm38) |
splice site |
probably benign |
|
|
IGL02271:Lrrc9
|
APN |
12 |
72,510,381 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02398:Lrrc9
|
APN |
12 |
72,466,903 (GRCm38) |
missense |
probably benign |
|
|
IGL02931:Lrrc9
|
APN |
12 |
72,454,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03257:Lrrc9
|
APN |
12 |
72,449,768 (GRCm38) |
missense |
probably benign |
|
|
BB006:Lrrc9
|
UTSW |
12 |
72,486,297 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
BB016:Lrrc9
|
UTSW |
12 |
72,486,297 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL02799:Lrrc9
|
UTSW |
12 |
72,506,404 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0172:Lrrc9
|
UTSW |
12 |
72,463,486 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R0315:Lrrc9
|
UTSW |
12 |
72,456,028 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0492:Lrrc9
|
UTSW |
12 |
72,478,763 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R0617:Lrrc9
|
UTSW |
12 |
72,483,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0639:Lrrc9
|
UTSW |
12 |
72,486,288 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0987:Lrrc9
|
UTSW |
12 |
72,510,382 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1325:Lrrc9
|
UTSW |
12 |
72,497,104 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1465:Lrrc9
|
UTSW |
12 |
72,500,759 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1465:Lrrc9
|
UTSW |
12 |
72,500,759 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1479:Lrrc9
|
UTSW |
12 |
72,460,825 (GRCm38) |
nonsense |
probably null |
|
|
R1564:Lrrc9
|
UTSW |
12 |
72,487,053 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1626:Lrrc9
|
UTSW |
12 |
72,495,661 (GRCm38) |
splice site |
probably null |
|
|
R1632:Lrrc9
|
UTSW |
12 |
72,460,020 (GRCm38) |
splice site |
probably null |
|
|
R1715:Lrrc9
|
UTSW |
12 |
72,477,299 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Lrrc9
|
UTSW |
12 |
72,456,117 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1779:Lrrc9
|
UTSW |
12 |
72,455,998 (GRCm38) |
nonsense |
probably null |
|
|
R1866:Lrrc9
|
UTSW |
12 |
72,497,138 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1878:Lrrc9
|
UTSW |
12 |
72,476,164 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1990:Lrrc9
|
UTSW |
12 |
72,497,861 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2361:Lrrc9
|
UTSW |
12 |
72,463,470 (GRCm38) |
missense |
possibly damaging |
0.52 |
|
R3752:Lrrc9
|
UTSW |
12 |
72,460,806 (GRCm38) |
nonsense |
probably null |
|
|
R3833:Lrrc9
|
UTSW |
12 |
72,482,991 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4134:Lrrc9
|
UTSW |
12 |
72,466,966 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4651:Lrrc9
|
UTSW |
12 |
72,477,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4652:Lrrc9
|
UTSW |
12 |
72,477,386 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4659:Lrrc9
|
UTSW |
12 |
72,470,264 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4831:Lrrc9
|
UTSW |
12 |
72,499,679 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4857:Lrrc9
|
UTSW |
12 |
72,499,692 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5017:Lrrc9
|
UTSW |
12 |
72,506,325 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R5163:Lrrc9
|
UTSW |
12 |
72,449,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5279:Lrrc9
|
UTSW |
12 |
72,495,594 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5434:Lrrc9
|
UTSW |
12 |
72,454,088 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5783:Lrrc9
|
UTSW |
12 |
72,456,053 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R6021:Lrrc9
|
UTSW |
12 |
72,469,231 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6214:Lrrc9
|
UTSW |
12 |
72,459,853 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6255:Lrrc9
|
UTSW |
12 |
72,487,023 (GRCm38) |
missense |
probably benign |
0.33 |
|
R6538:Lrrc9
|
UTSW |
12 |
72,500,929 (GRCm38) |
missense |
probably benign |
0.08 |
|
R6563:Lrrc9
|
UTSW |
12 |
72,486,395 (GRCm38) |
splice site |
probably null |
|
|
R6672:Lrrc9
|
UTSW |
12 |
72,473,936 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R6919:Lrrc9
|
UTSW |
12 |
72,506,393 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6929:Lrrc9
|
UTSW |
12 |
72,450,772 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7092:Lrrc9
|
UTSW |
12 |
72,463,464 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R7150:Lrrc9
|
UTSW |
12 |
72,466,952 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7338:Lrrc9
|
UTSW |
12 |
72,463,531 (GRCm38) |
splice site |
probably null |
|
|
R7398:Lrrc9
|
UTSW |
12 |
72,500,816 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7477:Lrrc9
|
UTSW |
12 |
72,503,527 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7501:Lrrc9
|
UTSW |
12 |
72,449,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7542:Lrrc9
|
UTSW |
12 |
72,506,320 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7816:Lrrc9
|
UTSW |
12 |
72,495,692 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7870:Lrrc9
|
UTSW |
12 |
72,486,190 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7929:Lrrc9
|
UTSW |
12 |
72,486,297 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8042:Lrrc9
|
UTSW |
12 |
72,460,906 (GRCm38) |
missense |
probably benign |
0.02 |
|
R8108:Lrrc9
|
UTSW |
12 |
72,454,059 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8192:Lrrc9
|
UTSW |
12 |
72,449,389 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8244:Lrrc9
|
UTSW |
12 |
72,499,610 (GRCm38) |
missense |
probably benign |
0.22 |
|
R8333:Lrrc9
|
UTSW |
12 |
72,481,543 (GRCm38) |
missense |
probably benign |
0.38 |
|
R9288:Lrrc9
|
UTSW |
12 |
72,476,084 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9324:Lrrc9
|
UTSW |
12 |
72,449,397 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9342:Lrrc9
|
UTSW |
12 |
72,459,993 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9557:Lrrc9
|
UTSW |
12 |
72,486,207 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9624:Lrrc9
|
UTSW |
12 |
72,450,812 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9677:Lrrc9
|
UTSW |
12 |
72,450,765 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0025:Lrrc9
|
UTSW |
12 |
72,497,060 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1176:Lrrc9
|
UTSW |
12 |
72,477,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation