Incidental Mutation 'R1121:Islr'
| ID |
95645 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Islr
|
| Ensembl Gene |
ENSMUSG00000037206 |
| Gene Name |
immunoglobulin superfamily containing leucine-rich repeat |
| Synonyms |
|
| MMRRC Submission |
039194-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R1121 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
58063547-58066563 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58065045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 154
(N154S)
|
| 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 benign
Transcript: ENSMUST00000041477
AA Change: N154S
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000045142
Gene: ENSMUSG00000037206
AA Change: N154S
| 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 benign
Transcript: ENSMUST00000168864
AA Change: N154S
PolyPhen 2
Score 0.214 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000126963
Gene: ENSMUSG00000037206
AA Change: N154S
| 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: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l1 |
A |
T |
6: 90,566,366 (GRCm39) |
I646L |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,690,822 (GRCm39) |
|
probably null |
Het |
| Ap3b2 |
T |
A |
7: 81,113,943 (GRCm39) |
T815S |
unknown |
Het |
| Atosb |
T |
C |
4: 43,034,947 (GRCm39) |
K317E |
probably damaging |
Het |
| Cops7a |
T |
C |
6: 124,939,379 (GRCm39) |
D90G |
probably benign |
Het |
| Dpysl2 |
C |
T |
14: 67,100,001 (GRCm39) |
M78I |
probably benign |
Het |
| Erc2 |
T |
C |
14: 28,197,612 (GRCm39) |
|
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,063,913 (GRCm39) |
|
probably null |
Het |
| Fam98a |
C |
A |
17: 75,845,529 (GRCm39) |
G406C |
unknown |
Het |
| G6pc3 |
G |
A |
11: 102,080,768 (GRCm39) |
S6N |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,771 (GRCm39) |
M655L |
probably damaging |
Het |
| Hnrnpul1 |
G |
T |
7: 25,440,332 (GRCm39) |
T308K |
possibly damaging |
Het |
| Ipp |
T |
A |
4: 116,377,872 (GRCm39) |
N247K |
probably benign |
Het |
| Itk |
A |
G |
11: 46,222,721 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Micu1 |
C |
T |
10: 59,624,804 (GRCm39) |
T282I |
possibly damaging |
Het |
| Or6d14 |
T |
G |
6: 116,534,190 (GRCm39) |
V268G |
probably damaging |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,645 (GRCm39) |
Y584N |
probably damaging |
Het |
| Pnlip |
A |
G |
19: 58,669,340 (GRCm39) |
|
probably null |
Het |
| Ppip5k2 |
A |
T |
1: 97,684,585 (GRCm39) |
Y129N |
probably damaging |
Het |
| Prtg |
T |
G |
9: 72,813,449 (GRCm39) |
H936Q |
probably benign |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Spef1l |
T |
A |
7: 139,556,543 (GRCm39) |
D148V |
probably benign |
Het |
| Sptbn5 |
T |
A |
2: 119,899,871 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
A |
G |
2: 21,216,975 (GRCm39) |
D243G |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
| Uhrf1 |
T |
A |
17: 56,619,917 (GRCm39) |
M276K |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,647 (GRCm39) |
T181A |
probably benign |
Het |
| Vwa7 |
T |
A |
17: 35,236,770 (GRCm39) |
N112K |
probably damaging |
Het |
| Xkr7 |
C |
T |
2: 152,896,343 (GRCm39) |
T399I |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,248 (GRCm39) |
D19G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGGGATACCCTTCAGGACGTG -3'
(R):5'- TTGCAGACTGTGCCTATCGTGACC -3'
Sequencing Primer
(F):5'- CCTTCAGGACGTGGGGTG -3'
(R):5'- CTGTGCCTATCGTGACCTAGAG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation