Incidental Mutation 'IGL03019:Izumo4'
ID |
408000 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Izumo4
|
Ensembl Gene |
ENSMUSG00000055862 |
Gene Name |
IZUMO family member 4 |
Synonyms |
9030607L17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03019
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
80538018-80541207 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 80539680 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151820
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003438]
[ENSMUST00000020420]
[ENSMUST00000218184]
[ENSMUST00000218610]
[ENSMUST00000218090]
|
AlphaFold |
D3Z690 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003438
|
SMART Domains |
Protein: ENSMUSP00000003438 Gene: ENSMUSG00000003348
Domain | Start | End | E-Value | Type |
Mob1_phocein
|
34 |
208 |
6.02e-107 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000020420
|
SMART Domains |
Protein: ENSMUSP00000020420 Gene: ENSMUSG00000020198
Domain | Start | End | E-Value | Type |
Pfam:Adaptin_N
|
32 |
583 |
6.6e-153 |
PFAM |
Pfam:Cnd1
|
130 |
292 |
2.1e-8 |
PFAM |
low complexity region
|
629 |
642 |
N/A |
INTRINSIC |
BLVR
|
660 |
803 |
5.3e-80 |
SMART |
low complexity region
|
835 |
861 |
N/A |
INTRINSIC |
low complexity region
|
871 |
881 |
N/A |
INTRINSIC |
coiled coil region
|
910 |
933 |
N/A |
INTRINSIC |
low complexity region
|
947 |
964 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000095426
|
SMART Domains |
Protein: ENSMUSP00000093076 Gene: ENSMUSG00000055862
Domain | Start | End | E-Value | Type |
Pfam:IZUMO
|
26 |
167 |
1.1e-31 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217742
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218058
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218184
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219986
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218439
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218538
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219422
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218610
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219816
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219420
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218090
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219987
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ackr2 |
T |
A |
9: 121,738,248 (GRCm39) |
Y208N |
probably benign |
Het |
Agap2 |
T |
C |
10: 126,927,431 (GRCm39) |
|
probably benign |
Het |
Arhgap21 |
A |
T |
2: 20,865,874 (GRCm39) |
I914N |
probably damaging |
Het |
Brsk1 |
T |
C |
7: 4,713,496 (GRCm39) |
|
probably benign |
Het |
Cachd1 |
A |
T |
4: 100,809,282 (GRCm39) |
T256S |
probably damaging |
Het |
Ccdc171 |
G |
T |
4: 83,713,545 (GRCm39) |
G1195W |
probably damaging |
Het |
Cept1 |
A |
G |
3: 106,411,957 (GRCm39) |
M339T |
probably damaging |
Het |
Cir1 |
T |
C |
2: 73,116,692 (GRCm39) |
K223E |
unknown |
Het |
Cited2 |
A |
T |
10: 17,599,910 (GRCm39) |
M73L |
probably benign |
Het |
Drg2 |
T |
C |
11: 60,347,421 (GRCm39) |
Y37H |
probably damaging |
Het |
Drosha |
T |
C |
15: 12,846,185 (GRCm39) |
L440P |
probably damaging |
Het |
Dsc1 |
G |
A |
18: 20,221,421 (GRCm39) |
P685S |
probably benign |
Het |
Epha1 |
T |
A |
6: 42,339,686 (GRCm39) |
D639V |
probably damaging |
Het |
Inka2 |
G |
T |
3: 105,623,687 (GRCm39) |
M1I |
probably null |
Het |
Kcnmb2 |
A |
T |
3: 32,252,299 (GRCm39) |
R167W |
probably damaging |
Het |
Lce1k |
A |
C |
3: 92,714,086 (GRCm39) |
C33G |
unknown |
Het |
Map7 |
C |
T |
10: 20,143,101 (GRCm39) |
P417S |
unknown |
Het |
Myo18b |
A |
G |
5: 112,840,263 (GRCm39) |
V2510A |
probably benign |
Het |
Rubcn |
A |
T |
16: 32,647,077 (GRCm39) |
V787D |
probably damaging |
Het |
Spen |
A |
T |
4: 141,206,227 (GRCm39) |
L800Q |
unknown |
Het |
Zfp276 |
C |
A |
8: 123,994,673 (GRCm39) |
T580N |
probably damaging |
Het |
Zfp354c |
G |
T |
11: 50,708,021 (GRCm39) |
P60T |
probably damaging |
Het |
|
Other mutations in Izumo4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02850:Izumo4
|
APN |
10 |
80,540,032 (GRCm39) |
unclassified |
probably benign |
|
IGL03391:Izumo4
|
APN |
10 |
80,540,947 (GRCm39) |
missense |
probably damaging |
0.97 |
F5770:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02835:Izumo4
|
UTSW |
10 |
80,540,959 (GRCm39) |
missense |
probably benign |
|
R0304:Izumo4
|
UTSW |
10 |
80,538,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0377:Izumo4
|
UTSW |
10 |
80,538,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R0411:Izumo4
|
UTSW |
10 |
80,538,918 (GRCm39) |
missense |
probably damaging |
0.99 |
R0498:Izumo4
|
UTSW |
10 |
80,540,030 (GRCm39) |
critical splice donor site |
probably null |
|
R1822:Izumo4
|
UTSW |
10 |
80,539,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R1870:Izumo4
|
UTSW |
10 |
80,539,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R1977:Izumo4
|
UTSW |
10 |
80,538,955 (GRCm39) |
missense |
probably damaging |
1.00 |
R2237:Izumo4
|
UTSW |
10 |
80,538,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R5288:Izumo4
|
UTSW |
10 |
80,538,639 (GRCm39) |
nonsense |
probably null |
|
R5543:Izumo4
|
UTSW |
10 |
80,538,668 (GRCm39) |
missense |
probably damaging |
1.00 |
R5587:Izumo4
|
UTSW |
10 |
80,539,054 (GRCm39) |
missense |
probably damaging |
1.00 |
R6199:Izumo4
|
UTSW |
10 |
80,538,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R6222:Izumo4
|
UTSW |
10 |
80,538,885 (GRCm39) |
missense |
probably damaging |
1.00 |
R6349:Izumo4
|
UTSW |
10 |
80,538,551 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
R8264:Izumo4
|
UTSW |
10 |
80,538,572 (GRCm39) |
missense |
|
|
V7580:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
V7581:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
V7582:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
V7583:Izumo4
|
UTSW |
10 |
80,539,725 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2016-08-02 |