Incidental Mutation 'IGL01546:Slx4ip'
| ID |
90332 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slx4ip
|
| Ensembl Gene |
ENSMUSG00000027281 |
| Gene Name |
SLX4 interacting protein |
| Synonyms |
2410004I22Rik, 2210009G21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01546
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
136733138-136913870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136908119 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 159
(T159A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028737]
[ENSMUST00000099311]
[ENSMUST00000180277]
|
| AlphaFold |
Q9D7Y9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028737
AA Change: T89A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000028737
Gene: ENSMUSG00000027281
AA Change: T89A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
271 |
292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099311
AA Change: T159A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: T159A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPF0492
|
10 |
365 |
6.4e-170 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130856
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135260
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180277
AA Change: T159A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: T159A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amdhd2 |
C |
A |
17: 24,382,574 (GRCm39) |
R22L |
probably benign |
Het |
| Arg2 |
T |
C |
12: 79,196,633 (GRCm39) |
|
probably benign |
Het |
| Catip |
T |
C |
1: 74,401,954 (GRCm39) |
L43P |
probably damaging |
Het |
| Ccdc30 |
A |
C |
4: 119,255,385 (GRCm39) |
L123R |
probably damaging |
Het |
| Cep89 |
T |
C |
7: 35,120,325 (GRCm39) |
L369P |
probably damaging |
Het |
| Dolpp1 |
T |
C |
2: 30,287,107 (GRCm39) |
F180L |
probably damaging |
Het |
| Kctd19 |
T |
C |
8: 106,113,594 (GRCm39) |
H670R |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,903,068 (GRCm39) |
I315N |
probably benign |
Het |
| Mfsd4b2 |
A |
T |
10: 39,797,471 (GRCm39) |
W295R |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,631,627 (GRCm39) |
T116A |
probably damaging |
Het |
| Mn1 |
A |
T |
5: 111,569,114 (GRCm39) |
D1028V |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,832,020 (GRCm39) |
G316D |
probably benign |
Het |
| Or2ag1b |
A |
G |
7: 106,288,738 (GRCm39) |
S67P |
probably damaging |
Het |
| Or52b1 |
T |
C |
7: 104,978,899 (GRCm39) |
R167G |
probably damaging |
Het |
| Or52j3 |
A |
T |
7: 102,836,617 (GRCm39) |
I270F |
probably damaging |
Het |
| Or7a40 |
A |
G |
16: 16,491,129 (GRCm39) |
S239P |
probably damaging |
Het |
| Or7g27 |
T |
G |
9: 19,250,068 (GRCm39) |
V104G |
possibly damaging |
Het |
| Phc3 |
C |
A |
3: 31,015,888 (GRCm39) |
A108S |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,429,712 (GRCm39) |
Y3310C |
probably damaging |
Het |
| Ppp4r3b |
T |
C |
11: 29,159,488 (GRCm39) |
|
probably null |
Het |
| Sos1 |
T |
A |
17: 80,716,040 (GRCm39) |
Y974F |
probably damaging |
Het |
| Spaca7b |
T |
A |
8: 11,706,136 (GRCm39) |
M133L |
probably benign |
Het |
| Taar8a |
A |
T |
10: 23,952,813 (GRCm39) |
Y139F |
possibly damaging |
Het |
| Vcam1 |
A |
G |
3: 115,909,591 (GRCm39) |
C579R |
possibly damaging |
Het |
| Zdhhc17 |
C |
T |
10: 110,782,054 (GRCm39) |
V547M |
probably damaging |
Het |
|
| Other mutations in Slx4ip |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01339:Slx4ip
|
APN |
2 |
136,885,975 (GRCm39) |
nonsense |
probably null |
|
|
IGL02114:Slx4ip
|
APN |
2 |
136,842,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02142:Slx4ip
|
APN |
2 |
136,909,942 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02253:Slx4ip
|
APN |
2 |
136,842,195 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02826:Slx4ip
|
APN |
2 |
136,846,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03035:Slx4ip
|
APN |
2 |
136,909,623 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL03261:Slx4ip
|
APN |
2 |
136,888,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0561:Slx4ip
|
UTSW |
2 |
136,908,090 (GRCm39) |
missense |
probably null |
0.27 |
|
R1750:Slx4ip
|
UTSW |
2 |
136,888,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1774:Slx4ip
|
UTSW |
2 |
136,909,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1812:Slx4ip
|
UTSW |
2 |
136,910,115 (GRCm39) |
missense |
probably benign |
0.13 |
|
R1894:Slx4ip
|
UTSW |
2 |
136,910,038 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1961:Slx4ip
|
UTSW |
2 |
136,909,601 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2051:Slx4ip
|
UTSW |
2 |
136,908,125 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2263:Slx4ip
|
UTSW |
2 |
136,885,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2914:Slx4ip
|
UTSW |
2 |
136,909,511 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3798:Slx4ip
|
UTSW |
2 |
136,909,543 (GRCm39) |
missense |
probably benign |
0.19 |
|
R4061:Slx4ip
|
UTSW |
2 |
136,846,937 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4934:Slx4ip
|
UTSW |
2 |
136,910,267 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4944:Slx4ip
|
UTSW |
2 |
136,888,687 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5061:Slx4ip
|
UTSW |
2 |
136,885,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5465:Slx4ip
|
UTSW |
2 |
136,846,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5609:Slx4ip
|
UTSW |
2 |
136,842,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Slx4ip
|
UTSW |
2 |
136,888,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6391:Slx4ip
|
UTSW |
2 |
136,888,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6525:Slx4ip
|
UTSW |
2 |
136,842,138 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6868:Slx4ip
|
UTSW |
2 |
136,842,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Slx4ip
|
UTSW |
2 |
136,910,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6966:Slx4ip
|
UTSW |
2 |
136,910,144 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7214:Slx4ip
|
UTSW |
2 |
136,888,650 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7406:Slx4ip
|
UTSW |
2 |
136,842,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7711:Slx4ip
|
UTSW |
2 |
136,909,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8035:Slx4ip
|
UTSW |
2 |
136,885,945 (GRCm39) |
nonsense |
probably null |
|
|
R8181:Slx4ip
|
UTSW |
2 |
136,842,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9032:Slx4ip
|
UTSW |
2 |
136,910,240 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9291:Slx4ip
|
UTSW |
2 |
136,888,716 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-12-03 |
Incidental Mutation