Incidental Mutation 'IGL02930:Islr'
| ID |
364068 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Islr
|
| Ensembl Gene |
ENSMUSG00000037206 |
| Gene Name |
immunoglobulin superfamily containing leucine-rich repeat |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
IGL02930
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
58063547-58066563 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 58065483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130232
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034880]
[ENSMUST00000041477]
[ENSMUST00000085677]
[ENSMUST00000167479]
[ENSMUST00000168864]
[ENSMUST00000170397]
[ENSMUST00000217578]
|
| AlphaFold |
Q6GU68 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034880
|
| SMART Domains |
Protein: ENSMUSP00000034880
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000041477
AA Change: C8Y
|
| SMART Domains |
Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
AA Change: C8Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
18 |
54 |
3.32e-1 |
SMART |
|
LRR
|
50 |
72 |
1.49e1 |
SMART |
|
LRR
|
73 |
96 |
5.26e0 |
SMART |
|
LRR
|
97 |
120 |
1.86e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
5.81e-2 |
SMART |
|
LRR_TYP
|
145 |
168 |
5.21e-4 |
SMART |
|
LRRCT
|
180 |
230 |
2.42e-9 |
SMART |
|
IGc2
|
248 |
334 |
9.78e-7 |
SMART |
|
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085677
|
| SMART Domains |
Protein: ENSMUSP00000082820
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
41 |
658 |
1.9e-248 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167479
|
| SMART Domains |
Protein: ENSMUSP00000128417
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000168864
AA Change: C8Y
|
| SMART Domains |
Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
AA Change: C8Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
|
LRRNT
|
18 |
54 |
3.32e-1 |
SMART |
|
LRR
|
50 |
72 |
1.49e1 |
SMART |
|
LRR
|
73 |
96 |
5.26e0 |
SMART |
|
LRR
|
97 |
120 |
1.86e1 |
SMART |
|
LRR_TYP
|
121 |
144 |
5.81e-2 |
SMART |
|
LRR_TYP
|
145 |
168 |
5.21e-4 |
SMART |
|
LRRCT
|
180 |
230 |
2.42e-9 |
SMART |
|
IGc2
|
248 |
334 |
9.78e-7 |
SMART |
|
low complexity region
|
408 |
426 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170397
|
| SMART Domains |
Protein: ENSMUSP00000130232
Gene: ENSMUSG00000032327
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RBP_receptor
|
40 |
659 |
1.6e-253 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000217578
AA Change: C8Y
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: The gene product suppresses differentiation of bone marrow stromal and skeletal stem cells into skeletal lineages. Homozygous knockout leads to growth retardation and longer long bones. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,328,226 (GRCm39) |
N3433S |
possibly damaging |
Het |
| Actl9 |
T |
C |
17: 33,653,073 (GRCm39) |
S378P |
probably damaging |
Het |
| Aldh6a1 |
C |
A |
12: 84,480,756 (GRCm39) |
L426F |
possibly damaging |
Het |
| Ankef1 |
T |
C |
2: 136,392,245 (GRCm39) |
I478T |
possibly damaging |
Het |
| Cabs1 |
A |
G |
5: 88,127,745 (GRCm39) |
D132G |
probably damaging |
Het |
| Ccdc39 |
T |
C |
3: 33,879,643 (GRCm39) |
E475G |
probably damaging |
Het |
| Cmtm2b |
A |
C |
8: 105,056,402 (GRCm39) |
M104L |
probably benign |
Het |
| Cops2 |
T |
C |
2: 125,674,109 (GRCm39) |
|
probably benign |
Het |
| Dnajc4 |
C |
A |
19: 6,966,801 (GRCm39) |
V176F |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,394,536 (GRCm39) |
N267D |
probably damaging |
Het |
| Elobl |
T |
G |
11: 88,856,012 (GRCm39) |
D17A |
possibly damaging |
Het |
| Erich6 |
G |
A |
3: 58,529,775 (GRCm39) |
|
probably benign |
Het |
| Flna |
G |
A |
X: 73,267,506 (GRCm39) |
R2548C |
probably damaging |
Het |
| Gm6878 |
T |
G |
14: 67,548,439 (GRCm39) |
|
probably benign |
Het |
| Gpc1 |
G |
T |
1: 92,785,021 (GRCm39) |
E355* |
probably null |
Het |
| Mex3a |
A |
T |
3: 88,443,532 (GRCm39) |
I203L |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,621 (GRCm39) |
I52N |
probably damaging |
Het |
| Or6c88 |
T |
C |
10: 129,407,184 (GRCm39) |
I220T |
probably damaging |
Het |
| Or8g24 |
G |
T |
9: 38,989,308 (GRCm39) |
H244Q |
probably damaging |
Het |
| Prokr2 |
T |
C |
2: 132,215,394 (GRCm39) |
S195G |
probably benign |
Het |
| Pyroxd1 |
A |
T |
6: 142,304,778 (GRCm39) |
D335V |
probably damaging |
Het |
| Rps6kl1 |
T |
C |
12: 85,196,548 (GRCm39) |
T39A |
probably benign |
Het |
| Rusc2 |
G |
A |
4: 43,416,376 (GRCm39) |
A561T |
probably damaging |
Het |
| Sel1l3 |
A |
C |
5: 53,280,559 (GRCm39) |
V937G |
possibly damaging |
Het |
| Sh3pxd2b |
A |
G |
11: 32,367,161 (GRCm39) |
T382A |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,990,865 (GRCm39) |
I271T |
probably damaging |
Het |
| Timeless |
T |
C |
10: 128,083,060 (GRCm39) |
V632A |
probably benign |
Het |
| Tle3 |
A |
G |
9: 61,301,981 (GRCm39) |
N67S |
possibly damaging |
Het |
| Tln2 |
G |
A |
9: 67,300,944 (GRCm39) |
R95* |
probably null |
Het |
| Trim24 |
A |
G |
6: 37,928,380 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
T |
1: 36,196,537 (GRCm39) |
D1253E |
probably benign |
Het |
| Vmn1r8 |
A |
G |
6: 57,013,579 (GRCm39) |
K210R |
probably benign |
Het |
|
| Other mutations in Islr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01012:Islr
|
APN |
9 |
58,064,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02169:Islr
|
APN |
9 |
58,065,415 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02369:Islr
|
APN |
9 |
58,064,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4581001:Islr
|
UTSW |
9 |
58,064,484 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1121:Islr
|
UTSW |
9 |
58,065,045 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1470:Islr
|
UTSW |
9 |
58,064,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1470:Islr
|
UTSW |
9 |
58,064,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1638:Islr
|
UTSW |
9 |
58,065,502 (GRCm39) |
unclassified |
probably benign |
|
|
R1699:Islr
|
UTSW |
9 |
58,064,778 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4360:Islr
|
UTSW |
9 |
58,064,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4677:Islr
|
UTSW |
9 |
58,064,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Islr
|
UTSW |
9 |
58,064,970 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R4856:Islr
|
UTSW |
9 |
58,064,889 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5354:Islr
|
UTSW |
9 |
58,064,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6343:Islr
|
UTSW |
9 |
58,064,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6768:Islr
|
UTSW |
9 |
58,064,893 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7050:Islr
|
UTSW |
9 |
58,065,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7216:Islr
|
UTSW |
9 |
58,064,250 (GRCm39) |
missense |
unknown |
|
|
R8209:Islr
|
UTSW |
9 |
58,065,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8806:Islr
|
UTSW |
9 |
58,064,256 (GRCm39) |
missense |
unknown |
|
|
R9235:Islr
|
UTSW |
9 |
58,064,944 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2015-12-18 |
Incidental Mutation