Incidental Mutation 'R1479:Lrrc9'
ID |
164222 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Lrrc9
|
Ensembl Gene |
ENSMUSG00000021090 |
Gene Name |
leucine rich repeat containing 9 |
Synonyms |
4921529O18Rik, 4930432K16Rik |
MMRRC Submission |
039532-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.209)
|
Stock # |
R1479 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 72507599 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 367
(K367*)
|
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 null
Transcript: ENSMUST00000161284
AA Change: K367*
|
SMART Domains |
Protein: ENSMUSP00000124602 Gene: ENSMUSG00000021090 AA Change: K367*
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 null
Transcript: ENSMUST00000162159
AA Change: K367*
|
SMART Domains |
Protein: ENSMUSP00000124394 Gene: ENSMUSG00000021090 AA Change: K367*
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 null
Transcript: ENSMUST00000221360
AA Change: K367*
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
96% (81/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310030G06Rik |
T |
A |
9: 50,652,601 (GRCm39) |
T58S |
possibly damaging |
Het |
Alox12e |
A |
G |
11: 70,211,608 (GRCm39) |
V252A |
probably benign |
Het |
Anks6 |
T |
C |
4: 47,044,874 (GRCm39) |
D344G |
probably damaging |
Het |
Atg14 |
A |
T |
14: 47,784,696 (GRCm39) |
|
probably null |
Het |
Bcr |
G |
T |
10: 74,896,957 (GRCm39) |
E34* |
probably null |
Het |
Birc6 |
C |
T |
17: 74,941,848 (GRCm39) |
T2728M |
probably damaging |
Het |
Bmp2k |
T |
A |
5: 97,201,059 (GRCm39) |
N326K |
probably benign |
Het |
Brme1 |
C |
A |
8: 84,889,026 (GRCm39) |
T123K |
possibly damaging |
Het |
Ccdc188 |
A |
C |
16: 18,037,154 (GRCm39) |
T242P |
possibly damaging |
Het |
Ccn6 |
G |
A |
10: 39,029,239 (GRCm39) |
R230W |
probably damaging |
Het |
Cdin1 |
T |
A |
2: 115,469,494 (GRCm39) |
N74K |
probably benign |
Het |
Chsy3 |
A |
T |
18: 59,541,985 (GRCm39) |
E374D |
probably benign |
Het |
Clca4b |
A |
T |
3: 144,621,229 (GRCm39) |
V615E |
probably damaging |
Het |
Clcnka |
C |
A |
4: 141,116,758 (GRCm39) |
A498S |
possibly damaging |
Het |
Csmd3 |
A |
G |
15: 47,721,282 (GRCm39) |
C1450R |
probably damaging |
Het |
Cul7 |
C |
A |
17: 46,962,673 (GRCm39) |
D101E |
probably damaging |
Het |
Cyp27b1 |
G |
A |
10: 126,887,580 (GRCm39) |
|
probably null |
Het |
Cyp2d22 |
A |
G |
15: 82,256,137 (GRCm39) |
S404P |
probably damaging |
Het |
Dclk3 |
G |
A |
9: 111,297,614 (GRCm39) |
S386N |
probably benign |
Het |
Dnah10 |
G |
A |
5: 124,854,953 (GRCm39) |
D1953N |
possibly damaging |
Het |
Dst |
T |
A |
1: 34,303,596 (GRCm39) |
|
probably null |
Het |
Egfem1 |
A |
G |
3: 29,711,314 (GRCm39) |
N241D |
probably damaging |
Het |
Entpd7 |
T |
C |
19: 43,710,279 (GRCm39) |
F312S |
probably damaging |
Het |
Esp34 |
T |
A |
17: 38,865,219 (GRCm39) |
|
probably benign |
Het |
Foxd2 |
T |
A |
4: 114,765,115 (GRCm39) |
T302S |
unknown |
Het |
Fzd6 |
A |
T |
15: 38,894,394 (GRCm39) |
N187Y |
probably damaging |
Het |
Gbp9 |
C |
T |
5: 105,241,930 (GRCm39) |
|
probably benign |
Het |
Gna14 |
T |
C |
19: 16,511,133 (GRCm39) |
S61P |
possibly damaging |
Het |
Grap |
A |
T |
11: 61,551,124 (GRCm39) |
Y52F |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,320 (GRCm39) |
Y125C |
probably damaging |
Het |
Hax1 |
C |
A |
3: 89,903,164 (GRCm39) |
E212D |
probably damaging |
Het |
Hecw1 |
A |
C |
13: 14,491,077 (GRCm39) |
S638R |
probably benign |
Het |
Hira |
A |
T |
16: 18,715,219 (GRCm39) |
K39M |
probably damaging |
Het |
Hoxa2 |
T |
A |
6: 52,140,320 (GRCm39) |
D222V |
probably damaging |
Het |
Hycc2 |
T |
A |
1: 58,591,427 (GRCm39) |
R91* |
probably null |
Het |
Jph2 |
C |
T |
2: 163,181,191 (GRCm39) |
V658M |
possibly damaging |
Het |
Kansl1 |
A |
T |
11: 104,233,242 (GRCm39) |
S762T |
probably damaging |
Het |
Kat6b |
T |
A |
14: 21,669,024 (GRCm39) |
C267S |
probably benign |
Het |
Klk6 |
A |
G |
7: 43,481,058 (GRCm39) |
N250S |
probably benign |
Het |
Lbp |
T |
C |
2: 158,161,634 (GRCm39) |
L232S |
probably damaging |
Het |
Lcn9 |
A |
T |
2: 25,713,715 (GRCm39) |
|
probably benign |
Het |
Lcp2 |
A |
G |
11: 34,025,068 (GRCm39) |
H213R |
probably benign |
Het |
Lyst |
A |
G |
13: 13,809,067 (GRCm39) |
I246V |
probably benign |
Het |
Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
Mst1r |
T |
C |
9: 107,790,544 (GRCm39) |
|
probably benign |
Het |
Myo18a |
A |
G |
11: 77,733,020 (GRCm39) |
E909G |
probably benign |
Het |
Nipbl |
A |
T |
15: 8,379,773 (GRCm39) |
D1006E |
probably benign |
Het |
Or4k5 |
C |
A |
14: 50,386,245 (GRCm39) |
V29F |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,923,630 (GRCm39) |
F217L |
probably benign |
Het |
Or8d1b |
A |
T |
9: 38,887,058 (GRCm39) |
I29F |
probably benign |
Het |
Otog |
A |
G |
7: 45,945,402 (GRCm39) |
I2220V |
possibly damaging |
Het |
Pcx |
T |
A |
19: 4,652,052 (GRCm39) |
I99N |
probably damaging |
Het |
Pi4ka |
C |
T |
16: 17,191,264 (GRCm39) |
G211D |
probably benign |
Het |
Pp2d1 |
T |
C |
17: 53,814,883 (GRCm39) |
S614G |
probably benign |
Het |
Prdx6 |
G |
A |
1: 161,071,833 (GRCm39) |
A111V |
probably damaging |
Het |
Prorp |
T |
A |
12: 55,426,172 (GRCm39) |
D138E |
probably damaging |
Het |
Prss51 |
G |
A |
14: 64,333,619 (GRCm39) |
|
probably null |
Het |
Psmd6 |
C |
T |
14: 14,116,819 (GRCm38) |
|
probably benign |
Het |
Pten |
T |
A |
19: 32,797,250 (GRCm39) |
L345Q |
probably damaging |
Het |
Qrich2 |
T |
G |
11: 116,332,311 (GRCm39) |
H2295P |
probably benign |
Het |
Rgs11 |
T |
C |
17: 26,427,257 (GRCm39) |
|
probably null |
Het |
Rgs6 |
A |
G |
12: 83,163,018 (GRCm39) |
E408G |
probably damaging |
Het |
Septin4 |
G |
T |
11: 87,458,244 (GRCm39) |
R206L |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,122 (GRCm39) |
T53A |
probably benign |
Het |
Spata31g1 |
A |
C |
4: 42,972,543 (GRCm39) |
K625N |
possibly damaging |
Het |
Sptbn1 |
A |
G |
11: 30,063,909 (GRCm39) |
C1957R |
probably damaging |
Het |
Sumf1 |
T |
C |
6: 108,153,019 (GRCm39) |
Y123C |
probably damaging |
Het |
Tnrc6b |
T |
A |
15: 80,771,233 (GRCm39) |
|
probably null |
Het |
Ttc21a |
C |
A |
9: 119,786,013 (GRCm39) |
D670E |
probably benign |
Het |
Ttn |
A |
G |
2: 76,574,855 (GRCm39) |
V25346A |
probably damaging |
Het |
Ubr4 |
A |
G |
4: 139,153,151 (GRCm39) |
T2070A |
possibly damaging |
Het |
Vmn2r57 |
C |
A |
7: 41,077,254 (GRCm39) |
W304L |
possibly damaging |
Het |
Vps13a |
T |
C |
19: 16,727,478 (GRCm39) |
|
probably benign |
Het |
Zfp647 |
A |
G |
15: 76,795,403 (GRCm39) |
V419A |
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 |
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'- CGTTACTCCGCCACTGAAAGCAAG -3'
(R):5'- TGCCCAGCAACTGTATAAACATCGC -3'
Sequencing Primer
(F):5'- GCAAGAGGTAACTGATTCTCAAATCC -3'
(R):5'- TTCTGCTGACTGGCTAAGAAAAAG -3'
|
Posted On |
2014-03-28 |