Incidental Mutation 'R4247:Lrrc24'
| ID |
320480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lrrc24
|
| Ensembl Gene |
ENSMUSG00000033707 |
| Gene Name |
leucine rich repeat containing 24 |
| Synonyms |
|
| MMRRC Submission |
041063-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R4247 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
76599476-76606373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76602176 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 193
(I193T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036247]
[ENSMUST00000036423]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000142610]
[ENSMUST00000228990]
[ENSMUST00000155735]
|
| AlphaFold |
Q8BHA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036247
|
| SMART Domains |
Protein: ENSMUSP00000039910
Gene: ENSMUSG00000116138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4505
|
31 |
209 |
5.4e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036423
|
| SMART Domains |
Protein: ENSMUSP00000049466
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049956
AA Change: I193T
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707
AA Change: I193T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
LRRNT
|
30 |
62 |
1.04e-2 |
SMART |
|
LRR
|
61 |
80 |
3.18e2 |
SMART |
|
LRR_TYP
|
81 |
104 |
2.99e-4 |
SMART |
|
LRR
|
106 |
128 |
3.87e1 |
SMART |
|
LRR_TYP
|
129 |
152 |
8.22e-2 |
SMART |
|
LRR_TYP
|
153 |
176 |
5.06e-2 |
SMART |
|
LRR
|
177 |
200 |
2.02e-1 |
SMART |
|
LRRCT
|
212 |
266 |
2e-10 |
SMART |
|
IGc2
|
280 |
360 |
1.02e-9 |
SMART |
|
transmembrane domain
|
409 |
431 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127208
|
| SMART Domains |
Protein: ENSMUSP00000114921
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136840
|
| SMART Domains |
Protein: ENSMUSP00000119670
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137649
|
| SMART Domains |
Protein: ENSMUSP00000121982
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138132
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000142610
|
| SMART Domains |
Protein: ENSMUSP00000117780
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231059
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228990
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155735
|
| SMART Domains |
Protein: ENSMUSP00000115446
Gene: ENSMUSG00000033728
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
35 |
N/A |
INTRINSIC |
|
low complexity region
|
55 |
66 |
N/A |
INTRINSIC |
|
SCOP:d1a4ya_
|
222 |
413 |
2e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229507
|
| Meta Mutation Damage Score |
0.7713 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
T |
C |
5: 8,195,626 (GRCm39) |
I305V |
probably benign |
Het |
| Aga |
T |
A |
8: 53,964,865 (GRCm39) |
L9Q |
possibly damaging |
Het |
| Akna |
C |
T |
4: 63,313,409 (GRCm39) |
G238D |
probably benign |
Het |
| Arhgap23 |
G |
A |
11: 97,354,525 (GRCm39) |
E813K |
probably damaging |
Het |
| Atp13a2 |
T |
C |
4: 140,719,539 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
C |
T |
5: 67,824,917 (GRCm39) |
G820S |
probably damaging |
Het |
| Ccdc97 |
T |
G |
7: 25,415,459 (GRCm39) |
H68P |
possibly damaging |
Het |
| Dclre1b |
A |
C |
3: 103,711,400 (GRCm39) |
|
probably null |
Het |
| Erap1 |
T |
C |
13: 74,823,414 (GRCm39) |
I816T |
probably damaging |
Het |
| Fubp1 |
G |
A |
3: 151,937,573 (GRCm39) |
A103T |
possibly damaging |
Het |
| Gnal |
C |
G |
18: 67,221,654 (GRCm39) |
P19R |
unknown |
Het |
| Gtf3c5 |
T |
C |
2: 28,461,196 (GRCm39) |
D306G |
probably damaging |
Het |
| Hecw2 |
C |
T |
1: 53,871,804 (GRCm39) |
V1381M |
probably damaging |
Het |
| Hsdl2 |
A |
T |
4: 59,594,417 (GRCm39) |
N16I |
probably damaging |
Het |
| Kif14 |
G |
T |
1: 136,401,126 (GRCm39) |
M492I |
possibly damaging |
Het |
| Kif27 |
A |
G |
13: 58,435,731 (GRCm39) |
V1354A |
probably damaging |
Het |
| Kif9 |
G |
T |
9: 110,325,027 (GRCm39) |
|
probably null |
Het |
| Lmtk3 |
G |
A |
7: 45,443,486 (GRCm39) |
C723Y |
possibly damaging |
Het |
| Or2bd2 |
A |
G |
7: 6,441,901 (GRCm39) |
|
probably benign |
Het |
| Or52b1 |
T |
C |
7: 104,979,355 (GRCm39) |
I15V |
probably benign |
Het |
| Pkd1l1 |
C |
T |
11: 8,815,543 (GRCm39) |
R1456K |
possibly damaging |
Het |
| Pramel52-ps |
A |
G |
5: 94,531,446 (GRCm39) |
D110G |
possibly damaging |
Het |
| Ranbp2 |
A |
G |
10: 58,314,686 (GRCm39) |
D1802G |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,041 (GRCm39) |
M29K |
possibly damaging |
Het |
| Satl1 |
A |
G |
X: 111,316,033 (GRCm39) |
S141P |
probably benign |
Het |
| Scn11a |
C |
T |
9: 119,636,952 (GRCm39) |
V250M |
probably damaging |
Het |
| Slitrk1 |
A |
G |
14: 109,149,994 (GRCm39) |
V239A |
possibly damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,988,171 (GRCm39) |
D512V |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,800 (GRCm39) |
L121P |
probably damaging |
Het |
| Sumf1 |
A |
C |
6: 108,131,974 (GRCm39) |
V156G |
probably damaging |
Het |
| Tamalin |
G |
T |
15: 101,122,418 (GRCm39) |
R79L |
possibly damaging |
Het |
| Trp73 |
A |
G |
4: 154,149,089 (GRCm39) |
|
probably null |
Het |
| Tsen2 |
A |
G |
6: 115,524,785 (GRCm39) |
|
probably benign |
Het |
| Upp1 |
T |
C |
11: 9,084,815 (GRCm39) |
I178T |
probably benign |
Het |
| Vmn2r73 |
A |
T |
7: 85,521,883 (GRCm39) |
L152Q |
probably damaging |
Het |
| Vmn2r97 |
T |
C |
17: 19,167,542 (GRCm39) |
S599P |
possibly damaging |
Het |
| Wrnip1 |
T |
C |
13: 32,990,866 (GRCm39) |
L375P |
probably damaging |
Het |
| Zfp945 |
C |
T |
17: 23,069,583 (GRCm39) |
G793D |
probably damaging |
Het |
| Zfyve9 |
C |
A |
4: 108,576,389 (GRCm39) |
A231S |
probably benign |
Het |
|
| Other mutations in Lrrc24 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00519:Lrrc24
|
APN |
15 |
76,602,263 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01556:Lrrc24
|
APN |
15 |
76,606,775 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01940:Lrrc24
|
APN |
15 |
76,600,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01966:Lrrc24
|
APN |
15 |
76,602,511 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL02315:Lrrc24
|
APN |
15 |
76,602,506 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03062:Lrrc24
|
APN |
15 |
76,602,504 (GRCm39) |
missense |
probably benign |
|
|
R0240:Lrrc24
|
UTSW |
15 |
76,607,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0240:Lrrc24
|
UTSW |
15 |
76,607,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Lrrc24
|
UTSW |
15 |
76,599,984 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1430:Lrrc24
|
UTSW |
15 |
76,607,992 (GRCm39) |
splice site |
probably null |
|
|
R1789:Lrrc24
|
UTSW |
15 |
76,606,778 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2131:Lrrc24
|
UTSW |
15 |
76,599,781 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2202:Lrrc24
|
UTSW |
15 |
76,607,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4585:Lrrc24
|
UTSW |
15 |
76,607,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4944:Lrrc24
|
UTSW |
15 |
76,602,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4976:Lrrc24
|
UTSW |
15 |
76,600,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5119:Lrrc24
|
UTSW |
15 |
76,600,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Lrrc24
|
UTSW |
15 |
76,600,306 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5772:Lrrc24
|
UTSW |
15 |
76,606,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Lrrc24
|
UTSW |
15 |
76,602,248 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8334:Lrrc24
|
UTSW |
15 |
76,600,200 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0028:Lrrc24
|
UTSW |
15 |
76,600,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTGATGTAGCCACAGTGTG -3'
(R):5'- TGCTGCGATATCCCAACTGC -3'
Sequencing Primer
(F):5'- CACAGTGTGGATCTGCCTCTG -3'
(R):5'- CCCTGCTGCTAGGAGAGGTTAG -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation