Incidental Mutation 'IGL01872:Ifi27l2a'
| ID |
178750 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ifi27l2a
|
| Ensembl Gene |
ENSMUSG00000079017 |
| Gene Name |
interferon, alpha-inducible protein 27 like 2A |
| Synonyms |
Ifi27, 2310061N23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01872
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
103408426-103409939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103401719 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 2
(A2V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082142
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066701]
[ENSMUST00000076702]
[ENSMUST00000076788]
[ENSMUST00000079294]
[ENSMUST00000085065]
[ENSMUST00000140838]
|
| AlphaFold |
Q8R412 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000066701
AA Change: A2V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000068729
Gene: ENSMUSG00000064215
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
Pfam:Ifi-6-16
|
85 |
167 |
2.6e-33 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000076702
AA Change: A2V
PolyPhen 2
Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075994
Gene: ENSMUSG00000064215
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:Ifi-6-16
|
73 |
157 |
7.1e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076788
AA Change: A2V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000076068
Gene: ENSMUSG00000064215
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ifi-6-16
|
35 |
117 |
7.2e-32 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079294
AA Change: A2V
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000078275
Gene: ENSMUSG00000064215
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:Ifi-6-16
|
122 |
202 |
8e-33 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085065
AA Change: A2V
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000082142
Gene: ENSMUSG00000064215
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
Pfam:Ifi-6-16
|
132 |
210 |
1.8e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122905
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000140838
AA Change: A2V
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000117403
Gene: ENSMUSG00000064215
AA Change: A2V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
43 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148824
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153670
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal susceptibility to infection with H1N1 or H7N7 influenza A virus, although sloughing of dead cells into bronchiolar lumen persists somewhat longer after infection than in infected controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
A |
T |
9: 124,058,120 (GRCm39) |
|
probably benign |
Het |
| Alpk2 |
A |
G |
18: 65,437,824 (GRCm39) |
S1657P |
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,507,818 (GRCm39) |
N371S |
probably benign |
Het |
| Cby1 |
T |
A |
15: 79,549,943 (GRCm39) |
W59R |
probably damaging |
Het |
| Chmp1a |
A |
T |
8: 123,932,976 (GRCm39) |
L159Q |
probably damaging |
Het |
| Ciz1 |
T |
C |
2: 32,268,121 (GRCm39) |
|
probably benign |
Het |
| Cnksr1 |
A |
G |
4: 133,956,275 (GRCm39) |
I603T |
probably benign |
Het |
| Dph1 |
A |
C |
11: 75,072,167 (GRCm39) |
F220C |
probably damaging |
Het |
| Epha4 |
T |
A |
1: 77,359,676 (GRCm39) |
M726L |
probably benign |
Het |
| Eps8l1 |
C |
T |
7: 4,475,295 (GRCm39) |
|
probably benign |
Het |
| Fbxo24 |
C |
A |
5: 137,611,987 (GRCm39) |
R313L |
probably damaging |
Het |
| Fgf4 |
C |
T |
7: 144,415,995 (GRCm39) |
R119* |
probably null |
Het |
| Grb10 |
T |
C |
11: 11,920,547 (GRCm39) |
T24A |
probably damaging |
Het |
| Ipmk |
T |
A |
10: 71,208,706 (GRCm39) |
M165K |
probably damaging |
Het |
| Kcnk2 |
C |
T |
1: 188,988,780 (GRCm39) |
G266R |
probably damaging |
Het |
| Mak |
A |
C |
13: 41,210,131 (GRCm39) |
M35R |
probably damaging |
Het |
| Mlxipl |
A |
T |
5: 135,142,545 (GRCm39) |
I120F |
probably damaging |
Het |
| Nav1 |
A |
G |
1: 135,381,814 (GRCm39) |
V1423A |
probably damaging |
Het |
| Olfm4 |
T |
C |
14: 80,259,368 (GRCm39) |
*506Q |
probably null |
Het |
| Opn4 |
T |
A |
14: 34,319,166 (GRCm39) |
|
probably benign |
Het |
| Or13a26 |
T |
C |
7: 140,284,176 (GRCm39) |
L4P |
possibly damaging |
Het |
| Or52ab2 |
T |
C |
7: 102,970,179 (GRCm39) |
V187A |
probably benign |
Het |
| Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
| Otof |
G |
A |
5: 30,536,598 (GRCm39) |
|
probably benign |
Het |
| Pde5a |
G |
A |
3: 122,588,018 (GRCm39) |
|
probably null |
Het |
| Pik3r1 |
A |
T |
13: 101,825,625 (GRCm39) |
D87E |
probably benign |
Het |
| Rbm6 |
A |
T |
9: 107,660,914 (GRCm39) |
V883E |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,304,154 (GRCm39) |
S496G |
probably benign |
Het |
| Sap130 |
A |
G |
18: 31,807,473 (GRCm39) |
R427G |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,589,202 (GRCm39) |
S415G |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,311,981 (GRCm39) |
S458P |
probably damaging |
Het |
| Smg1 |
A |
G |
7: 117,748,167 (GRCm39) |
|
probably benign |
Het |
| Sspo |
G |
T |
6: 48,431,623 (GRCm39) |
V639L |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,729,077 (GRCm39) |
|
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vps54 |
G |
A |
11: 21,256,940 (GRCm39) |
A683T |
probably damaging |
Het |
| Zfp354a |
A |
T |
11: 50,960,164 (GRCm39) |
N123I |
possibly damaging |
Het |
| Zfpm2 |
T |
C |
15: 40,965,783 (GRCm39) |
V624A |
probably benign |
Het |
|
| Other mutations in Ifi27l2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Ifi27l2a
|
APN |
12 |
103,403,792 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03061:Ifi27l2a
|
APN |
12 |
103,401,803 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL03402:Ifi27l2a
|
APN |
12 |
103,405,772 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0924:Ifi27l2a
|
UTSW |
12 |
103,408,639 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1428:Ifi27l2a
|
UTSW |
12 |
103,409,093 (GRCm39) |
unclassified |
probably benign |
|
|
R1712:Ifi27l2a
|
UTSW |
12 |
103,406,202 (GRCm39) |
splice site |
probably null |
|
|
R1763:Ifi27l2a
|
UTSW |
12 |
103,403,941 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R6883:Ifi27l2a
|
UTSW |
12 |
103,409,756 (GRCm39) |
unclassified |
probably benign |
|
|
R8325:Ifi27l2a
|
UTSW |
12 |
103,409,144 (GRCm39) |
missense |
unknown |
|
|
R8868:Ifi27l2a
|
UTSW |
12 |
103,402,899 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9149:Ifi27l2a
|
UTSW |
12 |
103,405,678 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
| Posted On |
2014-05-07 |
Incidental Mutation