Incidental Mutation 'R6768:Islr'
ID |
532050 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Islr
|
Ensembl Gene |
ENSMUSG00000037206 |
Gene Name |
immunoglobulin superfamily containing leucine-rich repeat |
Synonyms |
|
MMRRC Submission |
044884-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R6768 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
58063547-58066563 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 58064893 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 205
(Q205K)
|
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 |
possibly damaging
Transcript: ENSMUST00000041477
AA Change: Q205K
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000045142 Gene: ENSMUSG00000037206 AA Change: Q205K
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 |
possibly damaging
Transcript: ENSMUST00000168864
AA Change: Q205K
PolyPhen 2
Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000126963 Gene: ENSMUSG00000037206 AA Change: Q205K
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
|
Meta Mutation Damage Score |
0.1516 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 97.2%
|
Validation Efficiency |
96% (45/47) |
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 |
Adam6b |
G |
A |
12: 113,453,863 (GRCm39) |
V227I |
probably benign |
Het |
Agtrap |
A |
G |
4: 148,166,067 (GRCm39) |
V106A |
probably benign |
Het |
Aldh3a2 |
A |
C |
11: 61,144,536 (GRCm39) |
S341A |
probably benign |
Het |
Bmper |
T |
A |
9: 23,292,749 (GRCm39) |
C353S |
probably damaging |
Het |
Casq1 |
C |
T |
1: 172,047,245 (GRCm39) |
D5N |
probably benign |
Het |
Ccin |
G |
A |
4: 43,984,574 (GRCm39) |
R327H |
probably benign |
Het |
Chuk |
A |
G |
19: 44,085,390 (GRCm39) |
V252A |
probably damaging |
Het |
Colec11 |
T |
C |
12: 28,645,100 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
G |
A |
19: 37,002,432 (GRCm39) |
T643I |
possibly damaging |
Het |
Cstpp1 |
A |
T |
2: 91,252,303 (GRCm39) |
H19Q |
probably damaging |
Het |
Ctcfl |
A |
G |
2: 172,959,084 (GRCm39) |
V214A |
possibly damaging |
Het |
Dst |
A |
G |
1: 34,220,793 (GRCm39) |
E2199G |
probably damaging |
Het |
Eno2 |
T |
C |
6: 124,744,711 (GRCm39) |
E45G |
probably damaging |
Het |
Foxa2 |
T |
C |
2: 147,885,747 (GRCm39) |
H181R |
probably damaging |
Het |
Fpgs |
A |
G |
2: 32,576,635 (GRCm39) |
S331P |
probably benign |
Het |
Gm47189 |
A |
G |
14: 41,492,035 (GRCm39) |
S81P |
probably benign |
Het |
Igsf8 |
C |
A |
1: 172,145,099 (GRCm39) |
P142Q |
probably damaging |
Het |
Josd1 |
A |
G |
15: 79,561,323 (GRCm39) |
W162R |
probably benign |
Het |
Lrrc37a |
G |
A |
11: 103,390,949 (GRCm39) |
T1492I |
probably benign |
Het |
Meox1 |
A |
G |
11: 101,770,161 (GRCm39) |
F189L |
probably damaging |
Het |
Mtf1 |
G |
A |
4: 124,731,578 (GRCm39) |
D385N |
probably benign |
Het |
Naip2 |
A |
T |
13: 100,314,832 (GRCm39) |
C315* |
probably null |
Het |
Ncaph2 |
T |
A |
15: 89,248,202 (GRCm39) |
Y166* |
probably null |
Het |
Nr1i3 |
G |
A |
1: 171,044,966 (GRCm39) |
V270M |
probably damaging |
Het |
Or11h4b |
A |
G |
14: 50,919,049 (GRCm39) |
L14S |
probably damaging |
Het |
Or13c7 |
T |
C |
4: 43,854,351 (GRCm39) |
I14T |
probably benign |
Het |
Panx3 |
T |
C |
9: 37,575,322 (GRCm39) |
K180R |
probably benign |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Reln |
A |
C |
5: 22,183,905 (GRCm39) |
V1698G |
probably damaging |
Het |
Rnf213 |
G |
T |
11: 119,333,062 (GRCm39) |
R2757L |
probably damaging |
Het |
Scgb2b26 |
G |
T |
7: 33,644,379 (GRCm39) |
T4K |
probably damaging |
Het |
Sdhb |
A |
G |
4: 140,706,364 (GRCm39) |
E267G |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,315,991 (GRCm39) |
N383K |
probably damaging |
Het |
Stk11ip |
T |
A |
1: 75,509,279 (GRCm39) |
C766S |
probably benign |
Het |
Taf6l |
A |
C |
19: 8,751,913 (GRCm39) |
S592A |
probably damaging |
Het |
Tmem145 |
G |
A |
7: 25,008,061 (GRCm39) |
G235D |
probably damaging |
Het |
Tuba3b |
T |
A |
6: 145,564,455 (GRCm39) |
|
probably null |
Het |
Ubl7 |
A |
T |
9: 57,820,045 (GRCm39) |
E32D |
probably benign |
Het |
Vmn1r168 |
A |
T |
7: 23,240,460 (GRCm39) |
T106S |
probably damaging |
Het |
Vmn2r59 |
C |
A |
7: 41,661,392 (GRCm39) |
V808F |
probably benign |
Het |
Vmn2r61 |
C |
T |
7: 41,949,748 (GRCm39) |
P723S |
probably damaging |
Het |
Wwc2 |
A |
G |
8: 48,353,826 (GRCm39) |
Y103H |
possibly damaging |
Het |
Zfp11 |
G |
T |
5: 129,735,415 (GRCm39) |
D15E |
probably benign |
Het |
Zfp428 |
G |
A |
7: 24,214,908 (GRCm39) |
G162R |
probably damaging |
Het |
Zfp629 |
G |
A |
7: 127,209,997 (GRCm39) |
T604I |
probably benign |
Het |
Zfpm1 |
C |
A |
8: 123,061,195 (GRCm39) |
D253E |
probably damaging |
Het |
Zhx1 |
G |
T |
15: 57,917,499 (GRCm39) |
T249K |
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 |
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'- TGTCCATCCACGTCACAGTG -3'
(R):5'- CTCTGCAGCTGCTCAAGATG -3'
Sequencing Primer
(F):5'- ACGTCACAGTGGAGTGCC -3'
(R):5'- TGGACAGCAACGAGTTAGCCTTC -3'
|
Posted On |
2018-08-29 |