Incidental Mutation 'IGL01556:Lrrc24'
| ID |
90732 |
| 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: 0.070)
|
| Stock # |
IGL01556
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76599476-76606373 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76606775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 207
(D207V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039910
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036176]
[ENSMUST00000036247]
[ENSMUST00000049956]
[ENSMUST00000077821]
[ENSMUST00000127208]
[ENSMUST00000228990]
|
| AlphaFold |
Q8BHA1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036176
|
| SMART Domains |
Protein: ENSMUSP00000036697
Gene: ENSMUSG00000033697
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
27 |
60 |
1.64e0 |
SMART |
|
WW
|
66 |
99 |
5.41e-1 |
SMART |
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
759 |
904 |
2.3e-32 |
PFAM |
|
RhoGAP
|
932 |
1105 |
5.9e-28 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000036247
AA Change: D207V
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039910
Gene: ENSMUSG00000116138
AA Change: D207V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4505
|
31 |
209 |
5.4e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000049956
|
| SMART Domains |
Protein: ENSMUSP00000061906
Gene: ENSMUSG00000033707
| 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: ENSMUST00000077821
|
| SMART Domains |
Protein: ENSMUSP00000076993
Gene: ENSMUSG00000033697
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
27 |
60 |
1.64e0 |
SMART |
|
WW
|
66 |
99 |
5.41e-1 |
SMART |
|
low complexity region
|
125 |
138 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
318 |
N/A |
INTRINSIC |
|
Pfam:MyTH4
|
756 |
874 |
3.3e-25 |
PFAM |
|
RhoGAP
|
901 |
1074 |
5.9e-28 |
SMART |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000146725
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146855
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000228990
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231059
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230559
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229507
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
T |
C |
8: 114,571,741 (GRCm39) |
I81V |
probably benign |
Het |
| Aoc1l1 |
A |
C |
6: 48,952,618 (GRCm39) |
D181A |
possibly damaging |
Het |
| Armc3 |
T |
A |
2: 19,273,957 (GRCm39) |
D330E |
probably damaging |
Het |
| Atp6v0b |
A |
G |
4: 117,743,062 (GRCm39) |
F49S |
probably damaging |
Het |
| Atp8b3 |
A |
C |
10: 80,366,802 (GRCm39) |
Y265* |
probably null |
Het |
| Cby2 |
A |
G |
14: 75,821,551 (GRCm39) |
F16S |
probably damaging |
Het |
| Cdh11 |
A |
G |
8: 103,406,276 (GRCm39) |
Y66H |
probably damaging |
Het |
| Cntn5 |
T |
A |
9: 9,673,913 (GRCm39) |
M730L |
probably benign |
Het |
| Cntrl |
A |
G |
2: 35,063,071 (GRCm39) |
T1556A |
probably benign |
Het |
| Dixdc1 |
A |
G |
9: 50,617,434 (GRCm39) |
S128P |
probably damaging |
Het |
| Egfr |
T |
C |
11: 16,855,382 (GRCm39) |
L889S |
probably damaging |
Het |
| F830045P16Rik |
A |
G |
2: 129,305,640 (GRCm39) |
Y245H |
probably benign |
Het |
| Fam124a |
G |
A |
14: 62,825,181 (GRCm39) |
C225Y |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,442,702 (GRCm39) |
T2612A |
probably benign |
Het |
| Gkap1 |
A |
T |
13: 58,411,106 (GRCm39) |
I89N |
probably benign |
Het |
| Gm8247 |
A |
T |
14: 44,823,811 (GRCm39) |
K75* |
probably null |
Het |
| Gpi-ps |
A |
G |
8: 5,689,833 (GRCm39) |
|
noncoding transcript |
Het |
| Hdac11 |
T |
A |
6: 91,150,162 (GRCm39) |
H320Q |
probably benign |
Het |
| Iyd |
A |
G |
10: 3,497,091 (GRCm39) |
I149V |
probably benign |
Het |
| Krtap4-6 |
T |
A |
11: 99,556,676 (GRCm39) |
Q17L |
unknown |
Het |
| Mfsd12 |
G |
A |
10: 81,198,858 (GRCm39) |
C425Y |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,416,977 (GRCm39) |
T3308A |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,905,315 (GRCm39) |
|
probably benign |
Het |
| Ndufa6 |
C |
T |
15: 82,238,282 (GRCm39) |
V50M |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,089,962 (GRCm39) |
V1151A |
probably benign |
Het |
| Nrf1 |
A |
G |
6: 30,126,366 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
C |
18: 37,637,852 (GRCm39) |
I126T |
possibly damaging |
Het |
| Pdgfra |
G |
T |
5: 75,338,352 (GRCm39) |
L535F |
probably damaging |
Het |
| Pkn2 |
A |
T |
3: 142,535,078 (GRCm39) |
I212K |
possibly damaging |
Het |
| Slc5a9 |
T |
A |
4: 111,755,833 (GRCm39) |
T22S |
probably benign |
Het |
| Slitrk1 |
A |
G |
14: 109,150,450 (GRCm39) |
L87S |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 76,134,589 (GRCm39) |
R29S |
probably damaging |
Het |
| Zc3h12b |
C |
A |
X: 94,970,721 (GRCm39) |
F551L |
probably damaging |
Het |
| Zfp664 |
C |
A |
5: 124,963,252 (GRCm39) |
C215* |
probably null |
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 |
|
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 |
|
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 |
2013-12-09 |
Incidental Mutation