Incidental Mutation 'IGL03062:Lrrc24'
ID |
409515 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Lrrc24
|
Ensembl Gene |
ENSMUSG00000033707 |
Gene Name |
leucine rich repeat containing 24 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
IGL03062
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76599476-76606373 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 76602504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 127
(V127A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061906
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036247]
[ENSMUST00000036423]
[ENSMUST00000049956]
[ENSMUST00000127208]
[ENSMUST00000136840]
[ENSMUST00000137649]
[ENSMUST00000155735]
[ENSMUST00000142610]
[ENSMUST00000228990]
|
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 |
probably benign
Transcript: ENSMUST00000049956
AA Change: V127A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061906 Gene: ENSMUSG00000033707 AA Change: V127A
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: ENSMUST00000146725
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142506
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154531
|
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
|
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 |
noncoding transcript
Transcript: ENSMUST00000230372
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,681,054 (GRCm39) |
R714Q |
possibly damaging |
Het |
Abcb5 |
T |
A |
12: 118,899,822 (GRCm39) |
I282L |
probably benign |
Het |
Aox1 |
A |
T |
1: 58,117,624 (GRCm39) |
E835D |
probably benign |
Het |
Arhgap17 |
C |
T |
7: 122,921,097 (GRCm39) |
|
probably null |
Het |
Bltp1 |
T |
C |
3: 37,092,666 (GRCm39) |
|
probably benign |
Het |
Calcr |
C |
T |
6: 3,693,718 (GRCm39) |
V359I |
probably benign |
Het |
Chd9 |
T |
A |
8: 91,741,895 (GRCm39) |
|
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,017,029 (GRCm39) |
|
probably benign |
Het |
Dnajc11 |
A |
G |
4: 152,055,318 (GRCm39) |
E171G |
possibly damaging |
Het |
Efhd1 |
T |
C |
1: 87,192,406 (GRCm39) |
F79L |
possibly damaging |
Het |
Fam83a |
A |
T |
15: 57,856,473 (GRCm39) |
|
probably null |
Het |
Fam98a |
A |
G |
17: 75,847,100 (GRCm39) |
|
probably benign |
Het |
Ficd |
A |
G |
5: 113,876,314 (GRCm39) |
Y163C |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,327,167 (GRCm39) |
S66P |
probably damaging |
Het |
Fmo5 |
A |
G |
3: 97,542,909 (GRCm39) |
Y73C |
probably damaging |
Het |
Galnt12 |
C |
A |
4: 47,122,566 (GRCm39) |
R574S |
possibly damaging |
Het |
Klc3 |
C |
A |
7: 19,128,987 (GRCm39) |
G461W |
probably damaging |
Het |
Lmo7 |
A |
T |
14: 102,149,515 (GRCm39) |
T973S |
possibly damaging |
Het |
Loxl1 |
C |
A |
9: 58,219,193 (GRCm39) |
G326V |
possibly damaging |
Het |
Lyrm1 |
T |
C |
7: 119,515,354 (GRCm39) |
|
probably benign |
Het |
Med28 |
G |
A |
5: 45,679,811 (GRCm39) |
V65I |
probably damaging |
Het |
Mgat4c |
T |
C |
10: 102,224,322 (GRCm39) |
Y179H |
probably damaging |
Het |
Micall1 |
A |
C |
15: 78,998,881 (GRCm39) |
N58T |
probably damaging |
Het |
Mtcl3 |
T |
A |
10: 29,074,945 (GRCm39) |
F911Y |
probably damaging |
Het |
Ncoa4 |
T |
A |
14: 31,895,377 (GRCm39) |
M72K |
possibly damaging |
Het |
Nutm1 |
T |
C |
2: 112,079,278 (GRCm39) |
Q879R |
probably benign |
Het |
Or4d6 |
C |
T |
19: 12,086,512 (GRCm39) |
V133I |
probably benign |
Het |
Or8b12i |
T |
A |
9: 20,082,463 (GRCm39) |
I135F |
probably damaging |
Het |
Or8g52 |
T |
A |
9: 39,631,331 (GRCm39) |
D269E |
probably benign |
Het |
Phf11b |
T |
C |
14: 59,562,373 (GRCm39) |
I177M |
probably damaging |
Het |
Pin1rt1 |
T |
G |
2: 104,545,052 (GRCm39) |
I27L |
probably benign |
Het |
Plxna2 |
T |
C |
1: 194,444,858 (GRCm39) |
V750A |
possibly damaging |
Het |
Pou5f1 |
A |
T |
17: 35,820,936 (GRCm39) |
N126I |
possibly damaging |
Het |
Ptprn |
A |
T |
1: 75,224,517 (GRCm39) |
H946Q |
possibly damaging |
Het |
Rnf43 |
G |
T |
11: 87,623,130 (GRCm39) |
G744* |
probably null |
Het |
Rsbn1 |
C |
A |
3: 103,860,945 (GRCm39) |
|
probably benign |
Het |
Sars2 |
T |
A |
7: 28,446,206 (GRCm39) |
I145N |
possibly damaging |
Het |
Sh3tc2 |
A |
T |
18: 62,144,951 (GRCm39) |
E1135V |
probably damaging |
Het |
Shroom1 |
A |
G |
11: 53,354,206 (GRCm39) |
D42G |
probably benign |
Het |
Sidt2 |
A |
G |
9: 45,853,981 (GRCm39) |
|
probably null |
Het |
Slc39a8 |
T |
C |
3: 135,592,558 (GRCm39) |
|
probably benign |
Het |
Slc9c1 |
T |
C |
16: 45,420,121 (GRCm39) |
S1059P |
probably benign |
Het |
Socs6 |
A |
T |
18: 88,887,970 (GRCm39) |
M315K |
probably benign |
Het |
Speer2 |
T |
C |
16: 69,654,865 (GRCm39) |
E200G |
probably damaging |
Het |
Sult2a5 |
T |
A |
7: 13,358,107 (GRCm39) |
|
probably null |
Het |
Tmbim1 |
A |
T |
1: 74,330,858 (GRCm39) |
I168N |
possibly damaging |
Het |
Trim38 |
T |
C |
13: 23,966,946 (GRCm39) |
V131A |
probably damaging |
Het |
Ube2o |
A |
G |
11: 116,432,468 (GRCm39) |
S833P |
probably damaging |
Het |
Uggt2 |
T |
C |
14: 119,312,758 (GRCm39) |
I350M |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,548,648 (GRCm39) |
D640G |
probably damaging |
Het |
Vmn2r13 |
A |
G |
5: 109,304,148 (GRCm39) |
F761S |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,366,355 (GRCm39) |
C193Y |
probably damaging |
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 |
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 |
R4247:Lrrc24
|
UTSW |
15 |
76,602,176 (GRCm39) |
missense |
possibly damaging |
0.89 |
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 |
|
Posted On |
2016-08-02 |