Incidental Mutation 'IGL03391:Izumo4'
| ID |
421062 |
| 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 # |
IGL03391
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80538018-80541207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80540947 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 216
(T216A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003438]
[ENSMUST00000020420]
[ENSMUST00000218090]
[ENSMUST00000218184]
[ENSMUST00000218610]
|
| 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 |
unknown
Transcript: ENSMUST00000095426
AA Change: T197A
|
| SMART Domains |
Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: T197A
| 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: ENSMUST00000218090
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000218184
AA Change: T216A
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218330
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219987
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219152
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219420
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
A |
G |
7: 119,846,107 (GRCm39) |
D586G |
probably damaging |
Het |
| Acadvl |
A |
C |
11: 69,901,542 (GRCm39) |
M557R |
probably damaging |
Het |
| Ano2 |
T |
A |
6: 125,784,802 (GRCm39) |
N327K |
probably damaging |
Het |
| Cdh11 |
A |
T |
8: 103,400,655 (GRCm39) |
D104E |
possibly damaging |
Het |
| Chrnb2 |
A |
G |
3: 89,668,184 (GRCm39) |
F377S |
probably damaging |
Het |
| Cngb1 |
T |
C |
8: 96,030,333 (GRCm39) |
|
probably benign |
Het |
| Dnaaf1 |
C |
T |
8: 120,309,355 (GRCm39) |
R148C |
probably damaging |
Het |
| Esrrg |
A |
T |
1: 187,882,420 (GRCm39) |
I226F |
possibly damaging |
Het |
| Evl |
C |
A |
12: 108,642,358 (GRCm39) |
|
probably null |
Het |
| Gpam |
T |
C |
19: 55,070,128 (GRCm39) |
E376G |
probably damaging |
Het |
| Gzf1 |
C |
A |
2: 148,525,603 (GRCm39) |
R25S |
probably damaging |
Het |
| Ighv5-2 |
A |
T |
12: 113,542,138 (GRCm39) |
Y113* |
probably null |
Het |
| Lrp1b |
T |
G |
2: 41,185,653 (GRCm39) |
Y1354S |
possibly damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,632 (GRCm39) |
|
probably benign |
Het |
| Mylpf |
A |
G |
7: 126,812,349 (GRCm39) |
I17V |
probably benign |
Het |
| Myo18b |
C |
A |
5: 113,022,345 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
T |
12: 13,533,750 (GRCm39) |
A1795V |
probably benign |
Het |
| Oprm1 |
A |
C |
10: 6,964,077 (GRCm39) |
|
probably benign |
Het |
| Or2ag15 |
A |
T |
7: 106,340,962 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or5b122 |
A |
G |
19: 13,563,483 (GRCm39) |
M272V |
probably benign |
Het |
| Or5w1 |
A |
G |
2: 87,487,032 (GRCm39) |
S78P |
possibly damaging |
Het |
| Parp14 |
T |
C |
16: 35,678,640 (GRCm39) |
M443V |
probably benign |
Het |
| Psca |
T |
C |
15: 74,586,717 (GRCm39) |
F5S |
probably benign |
Het |
| Ptbp2 |
A |
T |
3: 119,514,031 (GRCm39) |
Y514* |
probably null |
Het |
| Scg3 |
A |
G |
9: 75,568,533 (GRCm39) |
|
probably null |
Het |
| Scn2a |
T |
C |
2: 65,594,557 (GRCm39) |
V1802A |
probably damaging |
Het |
| Serpinb3a |
A |
G |
1: 106,974,072 (GRCm39) |
S280P |
possibly damaging |
Het |
| Slc39a14 |
T |
C |
14: 70,547,291 (GRCm39) |
I352V |
probably damaging |
Het |
| Slc6a2 |
G |
T |
8: 93,688,080 (GRCm39) |
V69L |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,740,067 (GRCm39) |
|
probably benign |
Het |
| Tjp1 |
T |
C |
7: 64,964,717 (GRCm39) |
D818G |
probably damaging |
Het |
| Tnfaip8 |
T |
C |
18: 50,223,552 (GRCm39) |
V120A |
probably damaging |
Het |
| Trmt5 |
G |
A |
12: 73,328,226 (GRCm39) |
H326Y |
probably benign |
Het |
| Vmn1r222 |
T |
C |
13: 23,416,632 (GRCm39) |
M194V |
possibly damaging |
Het |
| Zbtb17 |
A |
G |
4: 141,194,069 (GRCm39) |
E699G |
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 |
|
|
IGL03019:Izumo4
|
APN |
10 |
80,539,680 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
Incidental Mutation