Incidental Mutation 'R4156:Lrrc23'
| ID |
315534 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc23
|
| Ensembl Gene |
ENSMUSG00000030125 |
| Gene Name |
leucine rich repeat containing 23 |
| Synonyms |
Lrpb7, 4921537K05Rik |
| MMRRC Submission |
040862-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4156 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124746826-124756690 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 124747804 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 262
(K262*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000108094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004378]
[ENSMUST00000032218]
[ENSMUST00000112475]
[ENSMUST00000112476]
[ENSMUST00000127274]
[ENSMUST00000156033]
[ENSMUST00000138770]
[ENSMUST00000151214]
[ENSMUST00000204896]
[ENSMUST00000149652]
[ENSMUST00000135626]
|
| AlphaFold |
O35125 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004378
|
| SMART Domains |
Protein: ENSMUSP00000004378
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
2.62e-93 |
SMART |
|
Enolase_C
|
142 |
431 |
2.62e-207 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032218
AA Change: K262*
|
| SMART Domains |
Protein: ENSMUSP00000032218
Gene: ENSMUSG00000030125
AA Change: K262*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
12 |
40 |
N/A |
INTRINSIC |
|
Pfam:LRR_1
|
89 |
109 |
1.2e-2 |
PFAM |
|
LRR
|
196 |
217 |
1.33e2 |
SMART |
|
LRR
|
218 |
239 |
4.97e0 |
SMART |
|
LRR
|
241 |
263 |
3.27e1 |
SMART |
|
low complexity region
|
305 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000112475
AA Change: K262*
|
| SMART Domains |
Protein: ENSMUSP00000108094
Gene: ENSMUSG00000030125
AA Change: K262*
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
12 |
40 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
90 |
182 |
7.1e-5 |
PROSPERO |
|
LRR
|
196 |
217 |
1.33e2 |
SMART |
|
LRR
|
218 |
239 |
4.97e0 |
SMART |
|
LRR
|
241 |
263 |
3.27e1 |
SMART |
|
low complexity region
|
305 |
314 |
N/A |
INTRINSIC |
|
low complexity region
|
323 |
332 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112476
|
| SMART Domains |
Protein: ENSMUSP00000108095
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
118 |
2.39e-55 |
SMART |
|
Enolase_C
|
71 |
312 |
9.08e-120 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125436
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128701
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156033
|
| SMART Domains |
Protein: ENSMUSP00000144698
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
58 |
5.2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138770
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151214
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132492
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147004
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204896
|
| SMART Domains |
Protein: ENSMUSP00000144861
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
91 |
8e-52 |
SMART |
|
Enolase_C
|
99 |
388 |
1.3e-211 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149652
|
| SMART Domains |
Protein: ENSMUSP00000119112
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
134 |
2.62e-93 |
SMART |
|
Pfam:Enolase_C
|
142 |
162 |
4.2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135626
|
| SMART Domains |
Protein: ENSMUSP00000114500
Gene: ENSMUSG00000004267
| Domain | Start | End | E-Value | Type |
|---|
|
Enolase_N
|
3 |
118 |
2.39e-55 |
SMART |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004B18Rik |
T |
A |
3: 145,644,018 (GRCm39) |
F69I |
possibly damaging |
Het |
| Acot12 |
C |
T |
13: 91,932,882 (GRCm39) |
L552F |
probably benign |
Het |
| Aff4 |
T |
A |
11: 53,301,726 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
A |
G |
19: 40,539,725 (GRCm39) |
V750A |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,469,149 (GRCm39) |
|
probably benign |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
| Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
| Cdc42bpb |
G |
A |
12: 111,260,573 (GRCm39) |
P1702S |
probably benign |
Het |
| Ddx20 |
G |
T |
3: 105,586,249 (GRCm39) |
Q699K |
probably benign |
Het |
| Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
| Etaa1 |
C |
T |
11: 17,890,281 (GRCm39) |
R860Q |
probably damaging |
Het |
| Ffar2 |
T |
A |
7: 30,519,093 (GRCm39) |
Y149F |
probably damaging |
Het |
| Gamt |
T |
A |
10: 80,096,558 (GRCm39) |
R60* |
probably null |
Het |
| Gm6871 |
T |
C |
7: 41,195,510 (GRCm39) |
N302S |
probably damaging |
Het |
| Hps3 |
A |
G |
3: 20,083,393 (GRCm39) |
S135P |
probably damaging |
Het |
| Ifi203 |
T |
A |
1: 173,764,106 (GRCm39) |
N122I |
probably damaging |
Het |
| Leng9 |
T |
C |
7: 4,152,433 (GRCm39) |
D81G |
possibly damaging |
Het |
| Morc2b |
T |
A |
17: 33,357,401 (GRCm39) |
T124S |
probably benign |
Het |
| Mroh1 |
G |
A |
15: 76,286,326 (GRCm39) |
|
probably null |
Het |
| Naxe |
T |
C |
3: 87,964,011 (GRCm39) |
K240R |
probably benign |
Het |
| Ncan |
C |
A |
8: 70,562,727 (GRCm39) |
E510D |
possibly damaging |
Het |
| Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
| Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
| Or5h18 |
A |
T |
16: 58,847,931 (GRCm39) |
F113Y |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,222 (GRCm39) |
Y218C |
probably damaging |
Het |
| Or8j3c |
C |
A |
2: 86,253,544 (GRCm39) |
V159L |
possibly damaging |
Het |
| Papola |
G |
A |
12: 105,767,010 (GRCm39) |
|
probably null |
Het |
| Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
| Plec |
A |
G |
15: 76,056,453 (GRCm39) |
S4517P |
probably damaging |
Het |
| Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
| Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
| Rxfp2 |
G |
A |
5: 149,975,020 (GRCm39) |
V210I |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,484,020 (GRCm39) |
D3909G |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,852,861 (GRCm39) |
K76N |
possibly damaging |
Het |
| Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
| Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
| Trim33 |
G |
T |
3: 103,217,630 (GRCm39) |
V192L |
possibly damaging |
Het |
| Trpm5 |
G |
T |
7: 142,642,792 (GRCm39) |
L52I |
probably benign |
Het |
| Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
| Vmn1r63 |
T |
C |
7: 5,806,531 (GRCm39) |
T34A |
possibly damaging |
Het |
| Vmn2r50 |
T |
C |
7: 9,774,309 (GRCm39) |
K529R |
probably benign |
Het |
| Vmn2r9 |
T |
C |
5: 108,995,743 (GRCm39) |
T302A |
possibly damaging |
Het |
| Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
| Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
|
| Other mutations in Lrrc23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Lrrc23
|
APN |
6 |
124,755,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01123:Lrrc23
|
APN |
6 |
124,755,782 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02429:Lrrc23
|
APN |
6 |
124,755,130 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02892:Lrrc23
|
APN |
6 |
124,751,399 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0440:Lrrc23
|
UTSW |
6 |
124,747,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0637:Lrrc23
|
UTSW |
6 |
124,755,321 (GRCm39) |
unclassified |
probably benign |
|
|
R1055:Lrrc23
|
UTSW |
6 |
124,755,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1125:Lrrc23
|
UTSW |
6 |
124,753,145 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1531:Lrrc23
|
UTSW |
6 |
124,753,077 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4838:Lrrc23
|
UTSW |
6 |
124,755,152 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5296:Lrrc23
|
UTSW |
6 |
124,751,445 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7211:Lrrc23
|
UTSW |
6 |
124,755,152 (GRCm39) |
missense |
probably benign |
0.16 |
|
R7426:Lrrc23
|
UTSW |
6 |
124,756,088 (GRCm39) |
missense |
unknown |
|
|
R7488:Lrrc23
|
UTSW |
6 |
124,756,075 (GRCm39) |
missense |
unknown |
|
|
R7583:Lrrc23
|
UTSW |
6 |
124,756,541 (GRCm39) |
start gained |
probably benign |
|
|
R7829:Lrrc23
|
UTSW |
6 |
124,747,711 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8289:Lrrc23
|
UTSW |
6 |
124,755,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Lrrc23
|
UTSW |
6 |
124,753,043 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9196:Lrrc23
|
UTSW |
6 |
124,755,189 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9384:Lrrc23
|
UTSW |
6 |
124,755,189 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAACTGGTGGCAAGTACGGTTC -3'
(R):5'- ATTGCTACCGGTCCTCAACC -3'
Sequencing Primer
(F):5'- GCAAGTACGGTTCCATGTCCTG -3'
(R):5'- CAACCATCATTGCTTTCGGGGAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation