Incidental Mutation 'IGL03251:Isl1'
| ID |
414931 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Isl1
|
| Ensembl Gene |
ENSMUSG00000042258 |
| Gene Name |
ISL1 transcription factor, LIM/homeodomain |
| Synonyms |
Islet 1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03251
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
116434817-116446225 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 116441985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 83
(S83G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135567
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036060]
[ENSMUST00000176044]
|
| AlphaFold |
P61372 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036060
AA Change: S83G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044879
Gene: ENSMUSG00000042258
AA Change: S83G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
16 |
70 |
1.39e-13 |
SMART |
|
LIM
|
78 |
132 |
4.99e-15 |
SMART |
|
HOX
|
181 |
243 |
1.83e-20 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176044
AA Change: S83G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000135567
Gene: ENSMUSG00000042258
AA Change: S83G
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
16 |
70 |
1.39e-13 |
SMART |
|
LIM
|
78 |
132 |
4.99e-15 |
SMART |
|
HOX
|
181 |
243 |
1.83e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176444
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000176812
|
| SMART Domains |
Protein: ENSMUSP00000135793
Gene: ENSMUSG00000042258
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
1 |
40 |
1.3e-5 |
SMART |
|
HOX
|
89 |
151 |
9.4e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177469
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195602
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the LIM/homeodomain family of transcription factors. The encoded protein binds to the enhancer region of the insulin gene, among others, and may play an important role in regulating insulin gene expression. The encoded protein is central to the development of pancreatic cell lineages and may also be required for motor neuron generation. Mutations in this gene have been associated with maturity-onset diabetes of the young. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation fail to develop motor neurons and die by embryonic day 11.5 with abnormal heart and pancreas development. Mice heterozygous for an ENU mutation exhibit chronic otitis media and hearing loss. [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 |
|---|
| Abcc6 |
T |
C |
7: 45,631,661 (GRCm39) |
|
probably benign |
Het |
| Cdkl2 |
A |
G |
5: 92,181,585 (GRCm39) |
I132T |
probably damaging |
Het |
| Ckap4 |
A |
T |
10: 84,364,469 (GRCm39) |
I198N |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,737,898 (GRCm39) |
R600H |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,686,433 (GRCm39) |
I239T |
probably benign |
Het |
| Ei24 |
A |
G |
9: 36,691,405 (GRCm39) |
*359R |
probably null |
Het |
| Elk3 |
A |
T |
10: 93,090,683 (GRCm39) |
|
probably null |
Het |
| Eps8l2 |
T |
A |
7: 140,922,875 (GRCm39) |
M46K |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,479,729 (GRCm39) |
T1988N |
probably benign |
Het |
| Gm5431 |
T |
C |
11: 48,785,548 (GRCm39) |
K276E |
probably benign |
Het |
| Gm8220 |
T |
A |
14: 44,525,729 (GRCm39) |
C133S |
possibly damaging |
Het |
| Hectd2 |
T |
C |
19: 36,562,926 (GRCm39) |
L168P |
probably damaging |
Het |
| Hydin |
A |
T |
8: 111,217,228 (GRCm39) |
D1372V |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,490,279 (GRCm39) |
I107T |
probably benign |
Het |
| Mlc1 |
A |
T |
15: 88,858,934 (GRCm39) |
V117D |
possibly damaging |
Het |
| Ndc1 |
A |
G |
4: 107,237,856 (GRCm39) |
E220G |
possibly damaging |
Het |
| Nlrp4b |
T |
A |
7: 10,448,427 (GRCm39) |
M210K |
probably benign |
Het |
| Or2z8 |
A |
T |
8: 72,811,920 (GRCm39) |
Y132F |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,691,423 (GRCm39) |
E60G |
possibly damaging |
Het |
| Pld1 |
G |
A |
3: 28,142,814 (GRCm39) |
R674H |
probably benign |
Het |
| Ppp1r13l |
G |
A |
7: 19,102,794 (GRCm39) |
|
probably benign |
Het |
| Ppp2cb |
A |
T |
8: 34,100,679 (GRCm39) |
|
probably benign |
Het |
| Rchy1 |
G |
T |
5: 92,110,502 (GRCm39) |
A26D |
probably benign |
Het |
| Rrm1 |
T |
C |
7: 102,106,413 (GRCm39) |
F311L |
probably damaging |
Het |
| Scrn1 |
G |
A |
6: 54,525,322 (GRCm39) |
R16* |
probably null |
Het |
| Slc24a4 |
T |
C |
12: 102,189,084 (GRCm39) |
L173P |
probably damaging |
Het |
| Srgap1 |
T |
C |
10: 121,640,826 (GRCm39) |
|
probably null |
Het |
| Tube1 |
T |
A |
10: 39,010,977 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
C |
T |
10: 88,653,188 (GRCm39) |
|
probably null |
Het |
| Vmn2r55 |
T |
C |
7: 12,405,120 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Isl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00676:Isl1
|
APN |
13 |
116,439,589 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1897:Isl1
|
UTSW |
13 |
116,439,866 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1928:Isl1
|
UTSW |
13 |
116,444,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2940:Isl1
|
UTSW |
13 |
116,444,835 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4062:Isl1
|
UTSW |
13 |
116,439,626 (GRCm39) |
missense |
probably benign |
0.27 |
|
R4795:Isl1
|
UTSW |
13 |
116,441,966 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4796:Isl1
|
UTSW |
13 |
116,441,966 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4836:Isl1
|
UTSW |
13 |
116,439,619 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4839:Isl1
|
UTSW |
13 |
116,438,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4870:Isl1
|
UTSW |
13 |
116,444,806 (GRCm39) |
splice site |
probably benign |
|
|
R5231:Isl1
|
UTSW |
13 |
116,438,193 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6220:Isl1
|
UTSW |
13 |
116,439,803 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7231:Isl1
|
UTSW |
13 |
116,439,826 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8191:Isl1
|
UTSW |
13 |
116,441,954 (GRCm39) |
missense |
probably benign |
|
|
R8493:Isl1
|
UTSW |
13 |
116,441,835 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8969:Isl1
|
UTSW |
13 |
116,439,857 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R9273:Isl1
|
UTSW |
13 |
116,444,902 (GRCm39) |
nonsense |
probably null |
|
|
R9325:Isl1
|
UTSW |
13 |
116,436,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9614:Isl1
|
UTSW |
13 |
116,441,924 (GRCm39) |
missense |
|
|
|
| Posted On |
2016-08-02 |
Incidental Mutation