Incidental Mutation 'IGL01123:Isl2'
| ID |
51965 |
| 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 # |
IGL01123
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
55445956-55453464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 55452746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 335
(G335C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034869]
[ENSMUST00000037408]
[ENSMUST00000114290]
[ENSMUST00000164373]
[ENSMUST00000214747]
[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: G335C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: G335C
| 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 |
probably benign
Transcript: ENSMUST00000037408
|
| SMART Domains |
Protein: ENSMUSP00000043411
Gene: ENSMUSG00000034007
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:SCAPER_N
|
88 |
185 |
3.4e-47 |
PFAM |
|
low complexity region
|
323 |
338 |
N/A |
INTRINSIC |
|
coiled coil region
|
415 |
466 |
N/A |
INTRINSIC |
|
coiled coil region
|
535 |
597 |
N/A |
INTRINSIC |
|
SCOP:d1eq1a_
|
605 |
769 |
3e-6 |
SMART |
|
ZnF_C2H2
|
791 |
815 |
1.16e1 |
SMART |
|
low complexity region
|
866 |
883 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
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 |
probably benign
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: ENSMUST00000214747
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
G |
T |
10: 28,849,934 (GRCm39) |
D167E |
probably damaging |
Het |
| Aadat |
A |
T |
8: 60,979,648 (GRCm39) |
E170V |
probably benign |
Het |
| Acsf2 |
T |
C |
11: 94,461,276 (GRCm39) |
E300G |
probably benign |
Het |
| Agbl3 |
C |
T |
6: 34,823,911 (GRCm39) |
Q859* |
probably null |
Het |
| Arhgap11a |
T |
C |
2: 113,665,118 (GRCm39) |
|
probably benign |
Het |
| Arhgef40 |
C |
A |
14: 52,231,803 (GRCm39) |
Q730K |
probably damaging |
Het |
| Armc3 |
C |
T |
2: 19,206,616 (GRCm39) |
P13L |
possibly damaging |
Het |
| B3gnt2 |
T |
A |
11: 22,786,490 (GRCm39) |
T233S |
probably benign |
Het |
| Bnc1 |
G |
A |
7: 81,623,455 (GRCm39) |
Q591* |
probably null |
Het |
| Bsn |
A |
T |
9: 107,993,185 (GRCm39) |
F856I |
probably damaging |
Het |
| CK137956 |
T |
A |
4: 127,829,643 (GRCm39) |
T558S |
probably benign |
Het |
| Coq8b |
G |
A |
7: 26,939,509 (GRCm39) |
V180I |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 17,584,944 (GRCm39) |
L16Q |
possibly damaging |
Het |
| Dhx37 |
A |
G |
5: 125,496,152 (GRCm39) |
S769P |
possibly damaging |
Het |
| Diras1 |
T |
A |
10: 80,858,249 (GRCm39) |
M1L |
probably damaging |
Het |
| Fam161b |
A |
G |
12: 84,404,438 (GRCm39) |
W81R |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,011,418 (GRCm39) |
I2173L |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,237,153 (GRCm39) |
T617A |
possibly damaging |
Het |
| Gabrq |
G |
A |
X: 71,880,439 (GRCm39) |
D311N |
probably benign |
Het |
| Kbtbd7 |
T |
C |
14: 79,666,052 (GRCm39) |
V628A |
probably damaging |
Het |
| Kmt2d |
T |
C |
15: 98,735,029 (GRCm39) |
M5378V |
unknown |
Het |
| Lrrc23 |
G |
T |
6: 124,755,782 (GRCm39) |
D75E |
probably benign |
Het |
| Mab21l3 |
G |
A |
3: 101,742,446 (GRCm39) |
T38M |
probably benign |
Het |
| Matn1 |
T |
C |
4: 130,677,322 (GRCm39) |
I177T |
possibly damaging |
Het |
| Mtor |
T |
C |
4: 148,537,494 (GRCm39) |
S60P |
probably benign |
Het |
| Naip6 |
T |
C |
13: 100,440,946 (GRCm39) |
E278G |
probably benign |
Het |
| Nsun6 |
T |
C |
2: 15,053,789 (GRCm39) |
I7V |
possibly damaging |
Het |
| Pabpc6 |
A |
T |
17: 9,887,076 (GRCm39) |
S492T |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,757,627 (GRCm39) |
Q188* |
probably null |
Het |
| Pom121 |
A |
T |
5: 135,420,560 (GRCm39) |
V287D |
unknown |
Het |
| Ptprq |
A |
T |
10: 107,522,079 (GRCm39) |
F624Y |
probably damaging |
Het |
| Ptprr |
A |
G |
10: 116,024,222 (GRCm39) |
T178A |
probably benign |
Het |
| Pygm |
A |
G |
19: 6,441,424 (GRCm39) |
N473S |
probably benign |
Het |
| Ros1 |
A |
T |
10: 51,996,905 (GRCm39) |
Y1256N |
probably damaging |
Het |
| Scpep1 |
T |
C |
11: 88,832,154 (GRCm39) |
N192S |
possibly damaging |
Het |
| Serpina1f |
A |
G |
12: 103,660,265 (GRCm39) |
S6P |
possibly damaging |
Het |
| Sgca |
T |
A |
11: 94,863,113 (GRCm39) |
Q80L |
probably damaging |
Het |
| Skint6 |
A |
G |
4: 112,661,879 (GRCm39) |
L1235P |
possibly damaging |
Het |
| Slc23a2 |
A |
C |
2: 131,898,736 (GRCm39) |
N600K |
probably benign |
Het |
| Spata20 |
T |
C |
11: 94,374,221 (GRCm39) |
T350A |
probably benign |
Het |
| Syne1 |
G |
T |
10: 5,294,921 (GRCm39) |
Y1227* |
probably null |
Het |
| Unc13c |
T |
C |
9: 73,840,479 (GRCm39) |
Y124C |
probably benign |
Het |
| Usp40 |
G |
A |
1: 87,913,845 (GRCm39) |
T416I |
probably benign |
Het |
| Vmn1r200 |
T |
C |
13: 22,579,571 (GRCm39) |
W116R |
probably benign |
Het |
| Vps4a |
T |
C |
8: 107,765,851 (GRCm39) |
|
probably benign |
Het |
| Zfyve16 |
A |
G |
13: 92,629,030 (GRCm39) |
V1469A |
probably damaging |
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 |
|
IGL01773:Isl2
|
APN |
9 |
55,451,504 (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 |
2013-06-21 |
Incidental Mutation