Incidental Mutation 'R7050:Islr'
ID |
547533 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Islr
|
Ensembl Gene |
ENSMUSG00000037206 |
Gene Name |
immunoglobulin superfamily containing leucine-rich repeat |
Synonyms |
|
MMRRC Submission |
045241-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R7050 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58063547-58066563 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58065000 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 169
(L169P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126963
(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 |
probably damaging
Transcript: ENSMUST00000041477
AA Change: L169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045142 Gene: ENSMUSG00000037206 AA Change: L169P
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 |
probably damaging
Transcript: ENSMUST00000168864
AA Change: L169P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126963 Gene: ENSMUSG00000037206 AA Change: L169P
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 |
probably benign
Transcript: ENSMUST00000217578
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
96% (47/49) |
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
A |
11: 109,864,544 (GRCm39) |
A346V |
possibly damaging |
Het |
Adcy5 |
A |
T |
16: 35,124,070 (GRCm39) |
M1250L |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,839,388 (GRCm39) |
|
probably benign |
Het |
Ascc3 |
T |
A |
10: 50,716,446 (GRCm39) |
I1944N |
probably benign |
Het |
Cabin1 |
G |
T |
10: 75,549,376 (GRCm39) |
P1343Q |
probably damaging |
Het |
Cbr3 |
A |
T |
16: 93,487,282 (GRCm39) |
Q155L |
possibly damaging |
Het |
Cd44 |
A |
G |
2: 102,644,482 (GRCm39) |
V577A |
probably damaging |
Het |
Coil |
C |
T |
11: 88,872,014 (GRCm39) |
T125I |
possibly damaging |
Het |
Fmo3 |
T |
C |
1: 162,791,473 (GRCm39) |
N268S |
probably damaging |
Het |
Fnip2 |
T |
C |
3: 79,413,577 (GRCm39) |
T248A |
probably damaging |
Het |
Ggt7 |
G |
A |
2: 155,348,295 (GRCm39) |
T43I |
probably benign |
Het |
Gm3250 |
C |
A |
10: 77,617,814 (GRCm39) |
C188F |
possibly damaging |
Het |
Iqce |
G |
A |
5: 140,651,846 (GRCm39) |
S375F |
possibly damaging |
Het |
Iqgap3 |
A |
G |
3: 88,006,220 (GRCm39) |
T544A |
probably damaging |
Het |
Kdr |
G |
T |
5: 76,110,780 (GRCm39) |
T904N |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,503,158 (GRCm39) |
T974A |
possibly damaging |
Het |
Mms19 |
A |
G |
19: 41,939,185 (GRCm39) |
|
probably null |
Het |
Mycl |
T |
C |
4: 122,890,813 (GRCm39) |
|
probably null |
Het |
Nab1 |
A |
T |
1: 52,529,894 (GRCm39) |
M1K |
probably null |
Het |
Naip6 |
C |
T |
13: 100,452,007 (GRCm39) |
G202R |
probably damaging |
Het |
Nbeal2 |
G |
A |
9: 110,457,788 (GRCm39) |
S2159L |
probably damaging |
Het |
Neb |
A |
T |
2: 52,112,888 (GRCm39) |
M4302K |
possibly damaging |
Het |
Npy1r |
A |
G |
8: 67,157,192 (GRCm39) |
D204G |
probably benign |
Het |
Or2q1 |
T |
A |
6: 42,794,504 (GRCm39) |
V33D |
possibly damaging |
Het |
Pkdcc |
T |
A |
17: 83,523,073 (GRCm39) |
I60N |
possibly damaging |
Het |
Plcxd3 |
T |
C |
15: 4,546,200 (GRCm39) |
V68A |
probably damaging |
Het |
Prss36 |
G |
T |
7: 127,543,937 (GRCm39) |
R145S |
possibly damaging |
Het |
Pygl |
C |
A |
12: 70,266,396 (GRCm39) |
G40C |
probably damaging |
Het |
Rev1 |
A |
G |
1: 38,093,352 (GRCm39) |
L1064P |
probably damaging |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Serpina3k |
T |
C |
12: 104,307,403 (GRCm39) |
F212L |
possibly damaging |
Het |
Slc16a4 |
A |
T |
3: 107,208,148 (GRCm39) |
E219D |
probably benign |
Het |
Slc6a20b |
A |
T |
9: 123,427,608 (GRCm39) |
W434R |
probably damaging |
Het |
Slco1c1 |
T |
A |
6: 141,493,652 (GRCm39) |
F278Y |
probably damaging |
Het |
Tbx21 |
T |
G |
11: 97,005,596 (GRCm39) |
D123A |
probably benign |
Het |
Trp73 |
A |
G |
4: 154,165,899 (GRCm39) |
F35L |
probably damaging |
Het |
Tspan17 |
T |
C |
13: 54,943,876 (GRCm39) |
V135A |
probably benign |
Het |
Uba2 |
G |
A |
7: 33,845,687 (GRCm39) |
Q479* |
probably null |
Het |
Ubr2 |
A |
G |
17: 47,272,528 (GRCm39) |
V889A |
probably benign |
Het |
Unc80 |
A |
G |
1: 66,590,067 (GRCm39) |
|
probably null |
Het |
Vinac1 |
T |
C |
2: 128,869,891 (GRCm39) |
|
probably null |
Het |
Vmn1r45 |
A |
T |
6: 89,910,703 (GRCm39) |
I89N |
probably damaging |
Het |
Vmn2r11 |
A |
G |
5: 109,202,657 (GRCm39) |
I140T |
probably benign |
Het |
Yipf2 |
A |
T |
9: 21,503,474 (GRCm39) |
D24E |
probably benign |
Het |
Zfp251 |
T |
G |
15: 76,738,496 (GRCm39) |
Q199P |
possibly damaging |
Het |
Zfp37 |
A |
T |
4: 62,109,908 (GRCm39) |
N385K |
possibly damaging |
Het |
Zfp655 |
G |
A |
5: 145,181,545 (GRCm39) |
E468K |
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 |
IGL02930:Islr
|
APN |
9 |
58,065,483 (GRCm39) |
unclassified |
probably benign |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTAGTTGCACTGAGGGAGC -3'
(R):5'- TCTCAAGAGTCTGGACCTCAG -3'
Sequencing Primer
(F):5'- TTGCACTGAGGGAGCTGAGC -3'
(R):5'- GAGTCTGGACCTCAGCCACAAC -3'
|
Posted On |
2019-05-13 |