Incidental Mutation 'R5107:Isl2'
| ID |
393609 |
| 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 |
042695-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5107 (G1)
|
| Quality Score |
198 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
55445956-55453464 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 55449570 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 82
(V82A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034869]
[ENSMUST00000114290]
[ENSMUST00000164373]
[ENSMUST00000175950]
|
| AlphaFold |
Q9CXV0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034869
AA Change: V82A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000034869
Gene: ENSMUSG00000032318
AA Change: V82A
| 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
AA Change: V82A
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109929
Gene: ENSMUSG00000032318
AA Change: V82A
| 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
AA Change: V82A
PolyPhen 2
Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000130638
Gene: ENSMUSG00000032318
AA Change: V82A
| 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
AA Change: V93A
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000139485
Gene: ENSMUSG00000032318
AA Change: V93A
| Domain | Start | End | E-Value | Type |
|---|
|
LIM
|
37 |
91 |
4.09e-11 |
SMART |
|
LIM
|
99 |
152 |
1.53e-10 |
SMART |
|
| Meta Mutation Damage Score |
0.0590 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.7%
|
| Validation Efficiency |
98% (56/57) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930486L24Rik |
T |
C |
13: 61,001,472 (GRCm39) |
N85S |
possibly damaging |
Het |
| Adgre1 |
A |
G |
17: 57,708,977 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Agbl5 |
C |
A |
5: 31,049,822 (GRCm39) |
P257Q |
probably damaging |
Het |
| Angptl2 |
A |
T |
2: 33,118,615 (GRCm39) |
M130L |
probably damaging |
Het |
| Atp6v1f |
T |
A |
6: 29,468,198 (GRCm39) |
|
probably null |
Het |
| Ccdc78 |
G |
A |
17: 26,006,454 (GRCm39) |
V133M |
possibly damaging |
Het |
| Clpx |
A |
G |
9: 65,215,821 (GRCm39) |
K145E |
possibly damaging |
Het |
| Col18a1 |
T |
C |
10: 76,913,057 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Igkv4-54 |
T |
C |
6: 69,608,914 (GRCm39) |
I24V |
possibly damaging |
Het |
| Ikzf3 |
A |
G |
11: 98,381,302 (GRCm39) |
Y93H |
probably damaging |
Het |
| Kcnq2 |
A |
T |
2: 180,750,340 (GRCm39) |
|
probably benign |
Het |
| Krt4 |
A |
T |
15: 101,831,226 (GRCm39) |
M225K |
possibly damaging |
Het |
| Ksr2 |
T |
C |
5: 117,827,673 (GRCm39) |
V484A |
probably benign |
Het |
| Lrba |
T |
A |
3: 86,267,086 (GRCm39) |
V1592E |
possibly damaging |
Het |
| Lrrc7 |
G |
A |
3: 157,867,533 (GRCm39) |
P736L |
probably damaging |
Het |
| Mettl8 |
A |
T |
2: 70,795,901 (GRCm39) |
F376I |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,409,268 (GRCm39) |
H1117Q |
unknown |
Het |
| Myh7 |
T |
A |
14: 55,223,881 (GRCm39) |
|
probably benign |
Het |
| Myod1 |
G |
T |
7: 46,027,218 (GRCm39) |
A228S |
probably benign |
Het |
| Ntrk1 |
T |
C |
3: 87,702,280 (GRCm39) |
T58A |
probably benign |
Het |
| Or12d17 |
A |
G |
17: 37,777,144 (GRCm39) |
T16A |
probably damaging |
Het |
| Pdcd11 |
T |
A |
19: 47,094,893 (GRCm39) |
V559E |
probably damaging |
Het |
| Pde10a |
A |
G |
17: 9,163,802 (GRCm39) |
N191S |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,870,566 (GRCm39) |
S161P |
probably benign |
Het |
| Pias1 |
C |
A |
9: 62,789,510 (GRCm39) |
A566S |
probably benign |
Het |
| Pik3c2g |
T |
C |
6: 139,612,623 (GRCm39) |
|
probably benign |
Het |
| Pmp22 |
A |
G |
11: 63,049,237 (GRCm39) |
E160G |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,135,062 (GRCm39) |
|
probably null |
Het |
| Prob1 |
T |
C |
18: 35,785,989 (GRCm39) |
N755S |
possibly damaging |
Het |
| Rhou |
A |
T |
8: 124,387,912 (GRCm39) |
K215* |
probably null |
Het |
| Scaper |
A |
G |
9: 55,487,616 (GRCm39) |
S749P |
probably damaging |
Het |
| Selenop |
A |
G |
15: 3,305,075 (GRCm39) |
E77G |
probably damaging |
Het |
| Sema3a |
C |
A |
5: 13,627,572 (GRCm39) |
S490* |
probably null |
Het |
| Slc26a2 |
A |
G |
18: 61,331,632 (GRCm39) |
Y600H |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,907,976 (GRCm39) |
I189S |
probably damaging |
Het |
| Stab1 |
T |
A |
14: 30,885,752 (GRCm39) |
|
probably null |
Het |
| Tbc1d13 |
G |
A |
2: 30,036,733 (GRCm39) |
E205K |
probably damaging |
Het |
| Tex47 |
C |
T |
5: 7,354,842 (GRCm39) |
R8W |
probably benign |
Het |
| Tmem198b |
T |
C |
10: 128,638,156 (GRCm39) |
T136A |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,305,705 (GRCm39) |
Q414R |
probably benign |
Het |
| Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,608,496 (GRCm39) |
I16063T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,693,905 (GRCm39) |
V321A |
possibly damaging |
Het |
| Ubox5 |
A |
G |
2: 130,441,688 (GRCm39) |
L333P |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,286,602 (GRCm39) |
Y78* |
probably null |
Het |
| Wnk4 |
A |
G |
11: 101,166,364 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,340,054 (GRCm39) |
D765G |
probably damaging |
Het |
| Xirp2 |
G |
T |
2: 67,342,205 (GRCm39) |
G1482V |
probably damaging |
Het |
| Znhit1 |
A |
G |
5: 137,015,682 (GRCm39) |
V2A |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGTCTCACTTTTAGAGCGGG -3'
(R):5'- CACAGTCGTACATCCTACTGAC -3'
Sequencing Primer
(F):5'- GCCCTTCCCTGCTAGAGAAG -3'
(R):5'- TTACCTGGCAGATGCAGGC -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation