Incidental Mutation 'R4659:Lrrc9'
ID |
352699 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc9
|
Ensembl Gene |
ENSMUSG00000021090 |
Gene Name |
leucine rich repeat containing 9 |
Synonyms |
4921529O18Rik, 4930432K16Rik |
MMRRC Submission |
041919-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R4659 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 72517038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 597
(F597I)
|
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: F597I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000124602 Gene: ENSMUSG00000021090 AA Change: F597I
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: F596I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000124394 Gene: ENSMUSG00000021090 AA Change: F596I
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: F597I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Meta Mutation Damage Score |
0.1073 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
96% (74/77) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
C |
A |
6: 142,618,321 (GRCm39) |
|
probably null |
Het |
Ankrd22 |
C |
T |
19: 34,102,968 (GRCm39) |
V118I |
probably damaging |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Arap2 |
T |
C |
5: 62,811,469 (GRCm39) |
N1114S |
possibly damaging |
Het |
AU021092 |
C |
G |
16: 5,030,011 (GRCm39) |
A335P |
probably damaging |
Het |
Carhsp1 |
T |
C |
16: 8,482,129 (GRCm39) |
T51A |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,306,325 (GRCm39) |
D152G |
probably damaging |
Het |
Cep70 |
T |
A |
9: 99,178,394 (GRCm39) |
D497E |
possibly damaging |
Het |
Chrm5 |
T |
C |
2: 112,310,102 (GRCm39) |
N338S |
probably benign |
Het |
Cldn8 |
G |
A |
16: 88,359,296 (GRCm39) |
H210Y |
probably benign |
Het |
Clhc1 |
T |
A |
11: 29,528,229 (GRCm39) |
*586K |
probably null |
Het |
Cplane1 |
G |
T |
15: 8,245,760 (GRCm39) |
|
probably benign |
Het |
Dop1a |
T |
A |
9: 86,384,085 (GRCm39) |
|
probably benign |
Het |
Dync1h1 |
T |
C |
12: 110,595,201 (GRCm39) |
F1371S |
possibly damaging |
Het |
Eif6 |
A |
G |
2: 155,668,101 (GRCm39) |
I46T |
probably damaging |
Het |
Esco2 |
G |
A |
14: 66,064,035 (GRCm39) |
T383M |
possibly damaging |
Het |
Exoc8 |
T |
C |
8: 125,624,271 (GRCm39) |
D32G |
probably damaging |
Het |
Fam149b |
G |
T |
14: 20,417,941 (GRCm39) |
S216I |
probably benign |
Het |
Fam219a |
T |
C |
4: 41,521,645 (GRCm39) |
D87G |
probably null |
Het |
Fbxw26 |
A |
T |
9: 109,573,939 (GRCm39) |
V71D |
probably damaging |
Het |
Gabra4 |
T |
A |
5: 71,798,487 (GRCm39) |
K164M |
probably damaging |
Het |
Gm57858 |
T |
C |
3: 36,080,103 (GRCm39) |
D218G |
possibly damaging |
Het |
Gm8603 |
G |
A |
17: 13,737,290 (GRCm39) |
|
noncoding transcript |
Het |
Gnmt |
A |
G |
17: 47,036,892 (GRCm39) |
F239S |
probably damaging |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Jam2 |
G |
A |
16: 84,609,840 (GRCm39) |
V151M |
probably damaging |
Het |
Kcnj1 |
A |
T |
9: 32,305,444 (GRCm39) |
D2V |
probably benign |
Het |
Limch1 |
C |
T |
5: 67,184,900 (GRCm39) |
R797C |
probably damaging |
Het |
Lrriq3 |
T |
A |
3: 154,835,090 (GRCm39) |
I275N |
possibly damaging |
Het |
Mcoln1 |
T |
A |
8: 3,560,840 (GRCm39) |
S387R |
probably damaging |
Het |
Mgst3 |
T |
A |
1: 167,204,848 (GRCm39) |
Q58L |
probably damaging |
Het |
Mical1 |
G |
A |
10: 41,362,932 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
C |
A |
9: 7,453,673 (GRCm39) |
D431E |
probably benign |
Het |
Mx1 |
T |
C |
16: 97,256,439 (GRCm39) |
|
probably null |
Het |
Myo7a |
A |
G |
7: 97,734,673 (GRCm39) |
L607P |
probably damaging |
Het |
Myt1l |
A |
G |
12: 29,899,456 (GRCm39) |
N153D |
probably damaging |
Het |
Nfu1 |
A |
T |
6: 86,996,408 (GRCm39) |
T120S |
probably damaging |
Het |
Nhlrc2 |
T |
C |
19: 56,564,699 (GRCm39) |
V341A |
possibly damaging |
Het |
Notch1 |
T |
C |
2: 26,360,901 (GRCm39) |
E1148G |
probably damaging |
Het |
Nqo1 |
C |
T |
8: 108,117,676 (GRCm39) |
|
probably null |
Het |
Nwd1 |
T |
A |
8: 73,421,949 (GRCm39) |
D998E |
probably benign |
Het |
Or8k18 |
G |
A |
2: 86,085,357 (GRCm39) |
Q227* |
probably null |
Het |
Oxct2a |
T |
C |
4: 123,216,473 (GRCm39) |
I303V |
probably benign |
Het |
Parp10 |
A |
T |
15: 76,127,185 (GRCm39) |
D58E |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,292 (GRCm39) |
V495E |
probably damaging |
Het |
Pitrm1 |
T |
A |
13: 6,603,218 (GRCm39) |
S88R |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,044,552 (GRCm39) |
V510A |
probably benign |
Het |
Ranbp17 |
T |
A |
11: 33,216,288 (GRCm39) |
D820V |
probably damaging |
Het |
Sec24c |
G |
T |
14: 20,733,212 (GRCm39) |
G180C |
probably damaging |
Het |
Serpina3n |
T |
C |
12: 104,379,752 (GRCm39) |
S382P |
probably benign |
Het |
Sestd1 |
A |
T |
2: 77,042,843 (GRCm39) |
M237K |
probably null |
Het |
Sf3a2 |
T |
C |
10: 80,639,418 (GRCm39) |
I136T |
probably damaging |
Het |
Sh3tc2 |
A |
G |
18: 62,107,580 (GRCm39) |
Y197C |
probably benign |
Het |
Speer4b |
T |
C |
5: 27,702,893 (GRCm39) |
K204E |
probably benign |
Het |
Speer4f1 |
A |
C |
5: 17,681,221 (GRCm39) |
E33A |
possibly damaging |
Het |
Sspo |
T |
A |
6: 48,461,147 (GRCm39) |
D3529E |
probably damaging |
Het |
Stard13 |
T |
C |
5: 150,986,253 (GRCm39) |
D419G |
probably benign |
Het |
Tg |
A |
G |
15: 66,545,769 (GRCm39) |
S164G |
possibly damaging |
Het |
Thap12 |
A |
G |
7: 98,359,298 (GRCm39) |
|
probably benign |
Het |
Thsd1 |
C |
A |
8: 22,749,314 (GRCm39) |
Y667* |
probably null |
Het |
Tnks |
A |
C |
8: 35,316,465 (GRCm39) |
Y885D |
possibly damaging |
Het |
Ttll3 |
A |
G |
6: 113,391,102 (GRCm39) |
I896V |
probably benign |
Het |
Txnip |
T |
G |
3: 96,466,743 (GRCm39) |
F190C |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,573,017 (GRCm39) |
D1005G |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,434,352 (GRCm39) |
|
probably null |
Het |
Usp54 |
G |
T |
14: 20,615,060 (GRCm39) |
Q794K |
probably damaging |
Het |
Xrn2 |
A |
G |
2: 146,903,394 (GRCm39) |
Q798R |
probably benign |
Het |
Zfp189 |
A |
G |
4: 49,530,342 (GRCm39) |
I482V |
probably benign |
Het |
Zfp28 |
A |
G |
7: 6,396,506 (GRCm39) |
N314D |
probably benign |
Het |
Zmym4 |
A |
G |
4: 126,842,221 (GRCm39) |
|
probably null |
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 |
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'- TCATAACAGCCGCAATTTGG -3'
(R):5'- GAACAGCCATTGTGTGTACAC -3'
Sequencing Primer
(F):5'- CAATTTGGTAATTGTGGGGAGTTG -3'
(R):5'- GCACACAAAGAATTGATAAGCATACG -3'
|
Posted On |
2015-10-08 |