Incidental Mutation 'IGL01773:Isl2'
ID |
153733 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Isl2
|
Ensembl Gene |
ENSMUSG00000032318 |
Gene Name |
insulin related protein 2 (islet 2) |
Synonyms |
islet-2, 3110001N10Rik, islet 2 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01773
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
55445956-55453464 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 55451504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 219
(L219P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000034869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034869]
[ENSMUST00000114290]
[ENSMUST00000164373]
[ENSMUST00000175950]
|
AlphaFold |
Q9CXV0 |
PDB Structure |
The structural basis for partial redundancy in a class of transcription factors, the lim-homeodomain proteins, in neural cell type specification [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000034869
AA Change: L219P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000034869 Gene: ENSMUSG00000032318 AA Change: L219P
Domain | Start | End | E-Value | Type |
LIM
|
26 |
80 |
4.09e-11 |
SMART |
LIM
|
88 |
142 |
2.67e-15 |
SMART |
HOX
|
191 |
253 |
3.41e-20 |
SMART |
low complexity region
|
323 |
336 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000114290
|
SMART Domains |
Protein: ENSMUSP00000109929 Gene: ENSMUSG00000032318
Domain | Start | End | E-Value | Type |
LIM
|
26 |
80 |
4.09e-11 |
SMART |
low complexity region
|
123 |
141 |
N/A |
INTRINSIC |
|
Predicted Effect |
silent
Transcript: ENSMUST00000164373
|
SMART Domains |
Protein: ENSMUSP00000130638 Gene: ENSMUSG00000032318
Domain | Start | End | E-Value | Type |
LIM
|
26 |
80 |
4.09e-11 |
SMART |
low complexity region
|
123 |
141 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165302
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166637
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171441
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000175950
|
SMART Domains |
Protein: ENSMUSP00000139485 Gene: ENSMUSG00000032318
Domain | Start | End | E-Value | Type |
LIM
|
37 |
91 |
4.09e-11 |
SMART |
LIM
|
99 |
152 |
1.53e-10 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mutations of this gene result in neonatal lethality, motor neuron migration defects and impaired visceral motor neuron differentiation. [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 |
Cacna1s |
C |
A |
1: 136,046,491 (GRCm39) |
H1775Q |
probably benign |
Het |
Calcrl |
A |
G |
2: 84,200,787 (GRCm39) |
Y86H |
probably benign |
Het |
Ccdc63 |
T |
C |
5: 122,251,208 (GRCm39) |
K401E |
possibly damaging |
Het |
Col9a1 |
A |
G |
1: 24,244,147 (GRCm39) |
T127A |
probably benign |
Het |
Cpq |
T |
A |
15: 33,212,996 (GRCm39) |
F5Y |
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,916,614 (GRCm39) |
M282L |
probably damaging |
Het |
Ddx10 |
C |
A |
9: 53,115,430 (GRCm39) |
D635Y |
possibly damaging |
Het |
Ect2l |
T |
C |
10: 18,037,252 (GRCm39) |
D382G |
probably damaging |
Het |
Ganc |
T |
C |
2: 120,290,365 (GRCm39) |
S901P |
possibly damaging |
Het |
Gpr179 |
G |
A |
11: 97,232,192 (GRCm39) |
R671C |
probably benign |
Het |
Mfsd13a |
T |
C |
19: 46,357,733 (GRCm39) |
S296P |
possibly damaging |
Het |
Mtmr7 |
A |
T |
8: 41,034,461 (GRCm39) |
L287Q |
probably damaging |
Het |
Or11g25 |
T |
C |
14: 50,723,230 (GRCm39) |
F105S |
probably damaging |
Het |
Or52d13 |
T |
G |
7: 103,110,221 (GRCm39) |
M60L |
possibly damaging |
Het |
Or7a39 |
A |
G |
10: 78,715,770 (GRCm39) |
T255A |
possibly damaging |
Het |
Or8g28 |
A |
G |
9: 39,169,830 (GRCm39) |
I46T |
probably damaging |
Het |
Pik3c3 |
T |
A |
18: 30,410,155 (GRCm39) |
F130I |
probably damaging |
Het |
Rab3gap1 |
T |
A |
1: 127,845,958 (GRCm39) |
S277R |
possibly damaging |
Het |
Rassf9 |
A |
G |
10: 102,381,494 (GRCm39) |
K290R |
probably benign |
Het |
Rnaseh2a |
A |
T |
8: 85,691,767 (GRCm39) |
V136D |
probably damaging |
Het |
Rnf39 |
C |
T |
17: 37,256,328 (GRCm39) |
S140L |
possibly damaging |
Het |
Sbno2 |
A |
G |
10: 79,893,665 (GRCm39) |
V1212A |
probably damaging |
Het |
Slc4a10 |
A |
T |
2: 62,021,101 (GRCm39) |
I50F |
probably damaging |
Het |
Slfn5 |
A |
T |
11: 82,852,157 (GRCm39) |
E761V |
probably damaging |
Het |
Sptlc1 |
A |
G |
13: 53,531,334 (GRCm39) |
Y18H |
probably damaging |
Het |
Tfam |
A |
G |
10: 71,072,805 (GRCm39) |
M9T |
possibly damaging |
Het |
Tmem186 |
A |
G |
16: 8,453,841 (GRCm39) |
L140P |
probably damaging |
Het |
Try4 |
A |
T |
6: 41,281,960 (GRCm39) |
N182I |
probably damaging |
Het |
Vmn1r209 |
C |
T |
13: 22,990,450 (GRCm39) |
C80Y |
probably damaging |
Het |
Vmn2r104 |
A |
T |
17: 20,260,930 (GRCm39) |
S498T |
probably benign |
Het |
|
Other mutations in Isl2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00332:Isl2
|
APN |
9 |
55,452,253 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01123:Isl2
|
APN |
9 |
55,452,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02801:Isl2
|
APN |
9 |
55,452,816 (GRCm39) |
splice site |
probably null |
|
R0578:Isl2
|
UTSW |
9 |
55,452,319 (GRCm39) |
missense |
probably damaging |
0.99 |
R3737:Isl2
|
UTSW |
9 |
55,449,754 (GRCm39) |
missense |
probably benign |
0.17 |
R4035:Isl2
|
UTSW |
9 |
55,449,754 (GRCm39) |
missense |
probably benign |
0.17 |
R4750:Isl2
|
UTSW |
9 |
55,451,596 (GRCm39) |
missense |
probably benign |
0.21 |
R4851:Isl2
|
UTSW |
9 |
55,452,271 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5107:Isl2
|
UTSW |
9 |
55,449,570 (GRCm39) |
missense |
probably benign |
0.17 |
R5181:Isl2
|
UTSW |
9 |
55,449,561 (GRCm39) |
missense |
probably benign |
0.33 |
R6724:Isl2
|
UTSW |
9 |
55,448,572 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7235:Isl2
|
UTSW |
9 |
55,451,455 (GRCm39) |
missense |
probably benign |
|
R7418:Isl2
|
UTSW |
9 |
55,451,636 (GRCm39) |
missense |
probably benign |
0.00 |
R7457:Isl2
|
UTSW |
9 |
55,452,240 (GRCm39) |
missense |
probably benign |
0.03 |
R7632:Isl2
|
UTSW |
9 |
55,448,440 (GRCm39) |
splice site |
probably null |
|
R7705:Isl2
|
UTSW |
9 |
55,449,685 (GRCm39) |
missense |
probably benign |
0.03 |
R7898:Isl2
|
UTSW |
9 |
55,449,723 (GRCm39) |
missense |
probably benign |
0.18 |
R8266:Isl2
|
UTSW |
9 |
55,451,408 (GRCm39) |
missense |
probably benign |
0.00 |
R8409:Isl2
|
UTSW |
9 |
55,449,784 (GRCm39) |
missense |
possibly damaging |
0.61 |
R8738:Isl2
|
UTSW |
9 |
55,452,722 (GRCm39) |
missense |
probably benign |
0.00 |
R9168:Isl2
|
UTSW |
9 |
55,452,227 (GRCm39) |
missense |
probably benign |
0.02 |
X0067:Isl2
|
UTSW |
9 |
55,449,555 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Isl2
|
UTSW |
9 |
55,449,499 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2014-02-04 |