Incidental Mutation 'V7581:Izumo4'
ID |
152562 |
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 # |
V7581 ()
of strain
stinger
|
Quality Score |
201 |
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]
[ENSMUST00000218184]
[ENSMUST00000218090]
[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: 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 |
probably benign
Transcript: ENSMUST00000218090
|
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219987
|
Meta Mutation Damage Score |
0.0762 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9530002B09Rik |
A |
T |
4: 122,595,050 (GRCm39) |
H102L |
possibly damaging |
Het |
Abcb10 |
GGCCATCG |
GG |
8: 124,696,500 (GRCm39) |
|
probably benign |
Het |
Atp6v1h |
A |
G |
1: 5,194,666 (GRCm39) |
T282A |
possibly damaging |
Het |
Clasp1 |
G |
A |
1: 118,509,078 (GRCm39) |
R1027Q |
probably damaging |
Het |
D630003M21Rik |
T |
C |
2: 158,042,931 (GRCm39) |
T870A |
probably benign |
Het |
Dnah12 |
T |
A |
14: 26,495,050 (GRCm39) |
N1369K |
possibly damaging |
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 |
Glrx3 |
A |
G |
7: 137,060,882 (GRCm39) |
H172R |
probably benign |
Het |
Gm10770 |
T |
A |
2: 150,021,404 (GRCm39) |
K38* |
probably null |
Het |
Gm4787 |
G |
A |
12: 81,424,341 (GRCm39) |
Q606* |
probably null |
Het |
Hira |
G |
A |
16: 18,713,571 (GRCm39) |
A29T |
probably damaging |
Het |
Hnrnpab |
A |
T |
11: 51,493,451 (GRCm39) |
N252K |
probably benign |
Het |
Kcnb2 |
A |
G |
1: 15,780,315 (GRCm39) |
I396V |
probably benign |
Het |
Klc1 |
A |
T |
12: 111,741,006 (GRCm39) |
I161F |
probably benign |
Het |
Lpar5 |
C |
A |
6: 125,058,690 (GRCm39) |
A137E |
possibly damaging |
Het |
Lrp4 |
C |
T |
2: 91,318,863 (GRCm39) |
S900L |
possibly damaging |
Het |
Muc6 |
T |
G |
7: 141,233,880 (GRCm39) |
E808A |
probably benign |
Het |
Or10j7 |
G |
T |
1: 173,011,531 (GRCm39) |
L157I |
probably benign |
Het |
Or5p57 |
G |
T |
7: 107,665,885 (GRCm39) |
T40K |
probably benign |
Het |
Otop3 |
T |
A |
11: 115,235,664 (GRCm39) |
L432Q |
probably damaging |
Het |
Papln |
C |
T |
12: 83,825,608 (GRCm39) |
R608C |
possibly damaging |
Het |
Pelp1 |
T |
A |
11: 70,288,976 (GRCm39) |
T257S |
probably damaging |
Het |
Pik3cd |
A |
C |
4: 149,741,776 (GRCm39) |
L390R |
probably damaging |
Het |
Ppwd1 |
A |
G |
13: 104,356,745 (GRCm39) |
Y257H |
probably damaging |
Het |
Prkcb |
G |
T |
7: 122,127,699 (GRCm39) |
W274C |
probably damaging |
Het |
Rbbp8nl |
T |
A |
2: 179,920,001 (GRCm39) |
T558S |
probably benign |
Het |
Recql4 |
T |
C |
15: 76,590,369 (GRCm39) |
D705G |
possibly damaging |
Het |
Slc30a4 |
T |
A |
2: 122,531,458 (GRCm39) |
M136L |
probably benign |
Het |
Slc5a6 |
C |
T |
5: 31,199,957 (GRCm39) |
|
probably null |
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 |
Tmc3 |
T |
C |
7: 83,271,713 (GRCm39) |
V955A |
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 |
Vmn2r68 |
C |
T |
7: 84,871,088 (GRCm39) |
V732I |
probably benign |
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 |
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 |
|
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 |