Incidental Mutation 'R8409:Isl2'
| ID |
652586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Isl2
|
| Ensembl Gene |
ENSMUSG00000032318 |
| Gene Name |
insulin related protein 2 (islet 2) |
| Synonyms |
islet-2, 3110001N10Rik, islet 2 |
| MMRRC Submission |
067766-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8409 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
55445956-55453464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55449784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 118
(S118P)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000034869
AA Change: S118P
PolyPhen 2
Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: S118P
| 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: 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 |
possibly damaging
Transcript: ENSMUST00000175950
AA Change: S129P
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318
AA Change: S129P
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
37 |
91 |
4.09e-11 |
SMART |
|
LIM
|
99 |
152 |
1.53e-10 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| 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 |
|---|
| Adam1b |
T |
G |
5: 121,639,540 (GRCm39) |
N502H |
probably benign |
Het |
| Ahnak |
C |
T |
19: 8,993,037 (GRCm39) |
P4774S |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,953,495 (GRCm39) |
S2082R |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,453,544 (GRCm39) |
T1636A |
probably benign |
Het |
| Cep83 |
C |
T |
10: 94,573,839 (GRCm39) |
Q243* |
probably null |
Het |
| Dlg5 |
T |
G |
14: 24,226,546 (GRCm39) |
E452A |
probably damaging |
Het |
| Dsg1a |
T |
A |
18: 20,473,208 (GRCm39) |
D760E |
probably damaging |
Het |
| Elob |
G |
A |
17: 24,043,933 (GRCm39) |
R89C |
probably benign |
Het |
| En2 |
T |
C |
5: 28,371,882 (GRCm39) |
S120P |
probably benign |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Extl2 |
G |
T |
3: 115,820,911 (GRCm39) |
V253F |
probably damaging |
Het |
| Fam217a |
T |
C |
13: 35,100,881 (GRCm39) |
E92G |
probably benign |
Het |
| Fbxo25 |
A |
T |
8: 13,964,999 (GRCm39) |
K17* |
probably null |
Het |
| Fig4 |
A |
T |
10: 41,141,427 (GRCm39) |
S277R |
probably benign |
Het |
| Gphn |
T |
C |
12: 78,659,784 (GRCm39) |
S429P |
probably damaging |
Het |
| Grm7 |
A |
G |
6: 110,891,297 (GRCm39) |
I177V |
probably benign |
Het |
| H13 |
C |
T |
2: 152,531,813 (GRCm39) |
P239L |
possibly damaging |
Het |
| Il12rb1 |
T |
A |
8: 71,269,187 (GRCm39) |
S456T |
possibly damaging |
Het |
| Irgq |
A |
G |
7: 24,233,209 (GRCm39) |
D350G |
probably benign |
Het |
| Itpka |
C |
T |
2: 119,580,341 (GRCm39) |
R329C |
probably damaging |
Het |
| Itpripl1 |
G |
T |
2: 126,982,686 (GRCm39) |
Q479K |
probably benign |
Het |
| Kbtbd2 |
T |
C |
6: 56,757,341 (GRCm39) |
N132D |
probably damaging |
Het |
| Klb |
T |
C |
5: 65,536,878 (GRCm39) |
V736A |
probably damaging |
Het |
| Klhl3 |
T |
C |
13: 58,167,242 (GRCm39) |
D374G |
probably damaging |
Het |
| Mmp14 |
T |
A |
14: 54,678,125 (GRCm39) |
V582D |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,242,134 (GRCm39) |
V590A |
probably damaging |
Het |
| Or2n1d |
A |
G |
17: 38,646,197 (GRCm39) |
T50A |
probably benign |
Het |
| Or51f1 |
A |
T |
7: 102,506,477 (GRCm39) |
M4K |
probably benign |
Het |
| Or7h8 |
T |
G |
9: 20,123,542 (GRCm39) |
|
probably benign |
Het |
| Pianp |
T |
C |
6: 124,976,214 (GRCm39) |
S8P |
unknown |
Het |
| Ppbp |
T |
C |
5: 90,916,486 (GRCm39) |
S9P |
probably damaging |
Het |
| Ppp4r3a |
A |
G |
12: 101,008,752 (GRCm39) |
I696T |
probably benign |
Het |
| Psmd5 |
A |
G |
2: 34,760,856 (GRCm39) |
S27P |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,086,897 (GRCm39) |
R1561S |
|
Het |
| Rassf8 |
A |
G |
6: 145,761,429 (GRCm39) |
T252A |
probably benign |
Het |
| Rpe65 |
T |
A |
3: 159,319,785 (GRCm39) |
D218E |
probably benign |
Het |
| Sec23ip |
G |
A |
7: 128,365,855 (GRCm39) |
V575I |
probably damaging |
Het |
| Slc38a3 |
G |
A |
9: 107,536,454 (GRCm39) |
|
probably benign |
Het |
| Slco6c1 |
C |
T |
1: 97,003,663 (GRCm39) |
C495Y |
probably damaging |
Het |
| Speer4f2 |
C |
A |
5: 17,582,419 (GRCm39) |
T214K |
|
Het |
| Stox1 |
A |
G |
10: 62,501,795 (GRCm39) |
L255P |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,786,363 (GRCm39) |
M989V |
probably benign |
Het |
| Tia1 |
T |
A |
6: 86,402,452 (GRCm39) |
Y202N |
possibly damaging |
Het |
| Tmem51 |
TCCCC |
TCCC |
4: 141,764,996 (GRCm39) |
|
probably null |
Het |
| Usp34 |
T |
C |
11: 23,407,811 (GRCm39) |
S2593P |
|
Het |
| Vmn2r85 |
A |
G |
10: 130,261,257 (GRCm39) |
V360A |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAACCTACTGCAAGCGGGAC -3'
(R):5'- ACAGTCGTACATCCTACTGACG -3'
Sequencing Primer
(F):5'- TACTGCAAGCGGGACTACGTC -3'
(R):5'- TACATCCTACTGACGCGGCG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation