Incidental Mutation 'V7583:Izumo4'
| ID |
152661 |
| Institutional Source |
Beutler Lab
|
| 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 # |
V7583 ()
of strain
stinger
|
| Quality Score |
206 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80538018-80541207 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80539725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 155
(T155S)
|
| 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: T152S
|
| SMART Domains |
Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: T152S
| 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 benign
Transcript: ENSMUST00000218184
AA Change: T155S
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000218330
AA Change: T65S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219152
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219987
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218610
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219816
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219420
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218439
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218538
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219422
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219746
|
| Meta Mutation Damage Score |
0.0762 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
| Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
| Cdc42bpb |
C |
T |
12: 111,262,825 (GRCm39) |
G1501S |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
| Dcaf4 |
C |
A |
12: 83,584,475 (GRCm39) |
|
probably null |
Het |
| Dnajc22 |
T |
A |
15: 98,999,363 (GRCm39) |
Y183N |
probably damaging |
Het |
| Dpyd |
C |
T |
3: 118,690,775 (GRCm39) |
Q295* |
probably null |
Het |
| Dync2i1 |
A |
C |
12: 116,175,460 (GRCm39) |
S906A |
possibly damaging |
Het |
| Erv3 |
T |
C |
2: 131,697,846 (GRCm39) |
H171R |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,665,865 (GRCm39) |
T249A |
probably benign |
Het |
| Fcgr1 |
T |
C |
3: 96,191,592 (GRCm39) |
*405W |
probably null |
Het |
| Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
| Golga4 |
A |
G |
9: 118,385,143 (GRCm39) |
E727G |
possibly damaging |
Het |
| Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
| Ing1 |
T |
C |
8: 11,611,934 (GRCm39) |
V124A |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
| Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
| Mbd5 |
A |
G |
2: 49,206,422 (GRCm39) |
D1713G |
probably damaging |
Het |
| Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,815,574 (GRCm39) |
|
probably null |
Het |
| Nbeal2 |
A |
G |
9: 110,467,005 (GRCm39) |
V670A |
possibly damaging |
Het |
| Nphp3 |
T |
C |
9: 103,913,093 (GRCm39) |
|
probably null |
Het |
| Numbl |
T |
C |
7: 26,979,027 (GRCm39) |
S379P |
probably benign |
Het |
| Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
| Pigx |
T |
C |
16: 31,906,240 (GRCm39) |
D129G |
probably damaging |
Het |
| Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
| Plekhb1 |
T |
C |
7: 100,303,825 (GRCm39) |
T112A |
probably benign |
Het |
| Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
| Ror1 |
A |
G |
4: 100,298,130 (GRCm39) |
Q501R |
probably damaging |
Het |
| Sirpb1b |
A |
G |
3: 15,568,243 (GRCm39) |
V366A |
probably benign |
Het |
| Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
| Spaca1 |
T |
C |
4: 34,039,311 (GRCm39) |
E192G |
probably damaging |
Het |
| Spata31 |
C |
A |
13: 65,069,462 (GRCm39) |
P537T |
probably benign |
Het |
| Tnrc6c |
G |
A |
11: 117,614,152 (GRCm39) |
R770H |
probably damaging |
Het |
| Toe1 |
A |
T |
4: 116,663,308 (GRCm39) |
N56K |
probably damaging |
Het |
| Tprkb |
A |
G |
6: 85,905,764 (GRCm39) |
K150E |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,694,973 (GRCm39) |
K150E |
probably damaging |
Het |
| Tspyl3 |
A |
G |
2: 153,066,980 (GRCm39) |
V86A |
probably benign |
Het |
| Vps18 |
A |
G |
2: 119,127,709 (GRCm39) |
Y844C |
probably benign |
Het |
| Wdr72 |
T |
A |
9: 74,064,552 (GRCm39) |
I528N |
probably damaging |
Het |
| Zfp292 |
C |
T |
4: 34,806,783 (GRCm39) |
C2087Y |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,910,927 (GRCm39) |
A223V |
probably damaging |
Het |
| Zmynd8 |
G |
A |
2: 165,654,314 (GRCm39) |
R724* |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCGTCACTGTGGTAAGTGAAC -3'
(R):5'- ACAACCTTGGATTCCAGCAGGAAC -3'
Sequencing Primer
(F):5'- TCTGGGGCTGCTTCTCATAT -3'
(R):5'- ACAAGACTTGGTGGTGGGGTA -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation