Incidental Mutation 'R3752:Lrrc9'
| ID |
271269 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc9
|
| Ensembl Gene |
ENSMUSG00000021090 |
| Gene Name |
leucine rich repeat containing 9 |
| Synonyms |
4921529O18Rik, 4930432K16Rik |
| MMRRC Submission |
040737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.154)
|
| Stock # |
R3752 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
72481391-72561269 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to G
at 72507580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 360
(Y360*)
|
| 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: Y360*
|
| SMART Domains |
Protein: ENSMUSP00000124602
Gene: ENSMUSG00000021090
AA Change: Y360*
| 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: Y360*
|
| SMART Domains |
Protein: ENSMUSP00000124394
Gene: ENSMUSG00000021090
AA Change: Y360*
| 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: Y360*
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,588,904 (GRCm39) |
I107N |
probably damaging |
Het |
| Adh1 |
G |
A |
3: 137,994,555 (GRCm39) |
V292I |
probably benign |
Het |
| Brd1 |
C |
T |
15: 88,573,821 (GRCm39) |
V1093I |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,610,061 (GRCm39) |
|
probably benign |
Het |
| Col4a4 |
G |
A |
1: 82,458,215 (GRCm39) |
P1120S |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,190,532 (GRCm39) |
N1067K |
probably damaging |
Het |
| Dhrs7c |
A |
G |
11: 67,702,281 (GRCm39) |
T90A |
probably damaging |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Eml6 |
C |
A |
11: 29,759,360 (GRCm39) |
V798F |
probably benign |
Het |
| Ext1 |
A |
T |
15: 52,939,306 (GRCm39) |
V581E |
probably damaging |
Het |
| Fbf1 |
C |
T |
11: 116,038,622 (GRCm39) |
R833Q |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,111,279 (GRCm39) |
C144* |
probably null |
Het |
| Gm10521 |
A |
G |
1: 171,723,712 (GRCm39) |
T8A |
unknown |
Het |
| Hapln4 |
A |
T |
8: 70,539,615 (GRCm39) |
L215F |
probably damaging |
Het |
| Hmgcr |
T |
C |
13: 96,799,624 (GRCm39) |
I157V |
probably damaging |
Het |
| Irak4 |
T |
C |
15: 94,459,476 (GRCm39) |
I364T |
probably damaging |
Het |
| Lama3 |
T |
A |
18: 12,640,086 (GRCm39) |
C1700S |
probably damaging |
Het |
| Lama5 |
C |
T |
2: 179,829,015 (GRCm39) |
C2042Y |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,900,282 (GRCm39) |
S196T |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,156,821 (GRCm39) |
A76V |
probably damaging |
Het |
| Mei1 |
C |
T |
15: 81,970,383 (GRCm39) |
T428M |
probably damaging |
Het |
| Mib2 |
A |
G |
4: 155,739,741 (GRCm39) |
F810S |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,284,167 (GRCm39) |
K126N |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,776,307 (GRCm39) |
L249F |
probably benign |
Het |
| Or10ag59 |
A |
G |
2: 87,406,057 (GRCm39) |
I210V |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,682 (GRCm39) |
Y128* |
probably null |
Het |
| Paqr8 |
A |
G |
1: 21,005,856 (GRCm39) |
T337A |
probably benign |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,810 (GRCm39) |
V14E |
probably damaging |
Het |
| Perm1 |
A |
T |
4: 156,302,403 (GRCm39) |
I316L |
probably benign |
Het |
| Plxnb2 |
G |
A |
15: 89,041,458 (GRCm39) |
|
probably benign |
Het |
| Rab3il1 |
A |
T |
19: 10,007,841 (GRCm39) |
T227S |
probably benign |
Het |
| Rag2 |
A |
T |
2: 101,461,121 (GRCm39) |
Y477F |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,263,551 (GRCm39) |
V722E |
possibly damaging |
Het |
| Rbp3 |
A |
T |
14: 33,677,969 (GRCm39) |
E639V |
probably damaging |
Het |
| Sh2b1 |
A |
G |
7: 126,067,959 (GRCm39) |
V565A |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,700,096 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
C |
T |
11: 61,235,207 (GRCm39) |
R542Q |
possibly damaging |
Het |
| Slc6a5 |
T |
C |
7: 49,586,062 (GRCm39) |
|
probably null |
Het |
| Slc9a8 |
C |
A |
2: 167,299,272 (GRCm39) |
H215N |
probably benign |
Het |
| Slit1 |
C |
T |
19: 41,635,406 (GRCm39) |
|
probably null |
Het |
| Snx1 |
A |
T |
9: 66,012,933 (GRCm39) |
|
probably null |
Het |
| Tbc1d30 |
T |
A |
10: 121,108,073 (GRCm39) |
N443I |
probably damaging |
Het |
| Tex15 |
T |
A |
8: 34,061,443 (GRCm39) |
M565K |
probably benign |
Het |
| Traf3ip1 |
T |
C |
1: 91,428,639 (GRCm39) |
|
probably benign |
Het |
| Traf3ip1 |
A |
G |
1: 91,446,019 (GRCm39) |
D384G |
probably damaging |
Het |
| Vldlr |
G |
A |
19: 27,215,731 (GRCm39) |
E243K |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,001,460 (GRCm39) |
S453P |
probably benign |
Het |
| Zfp644 |
A |
G |
5: 106,784,249 (GRCm39) |
V766A |
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 |
|
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 |
|
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'- CAGAGCTTTTCACTGCTAGAAAC -3'
(R):5'- CAAGTTGATCACCTGGCTCAG -3'
Sequencing Primer
(F):5'- TCTGGATCTAACTGCTAACACTCACG -3'
(R):5'- TGGCTCAGGATCAAATATACAACTAC -3'
|
| Posted On |
2015-03-18 |
Incidental Mutation