Incidental Mutation 'IGL03261:Slx4ip'
| ID |
414802 |
| 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 # |
IGL03261
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
136733138-136913870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 136888659 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 113
(R113S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028737]
[ENSMUST00000099311]
[ENSMUST00000180277]
|
| AlphaFold |
Q9D7Y9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028737
|
| SMART Domains |
Protein: ENSMUSP00000028737
Gene: ENSMUSG00000027281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
271 |
292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099311
AA Change: R113S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: R113S
| 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: R113S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: R113S
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
T |
G |
7: 27,279,863 (GRCm39) |
Y281* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 90,030,756 (GRCm39) |
|
probably benign |
Het |
| Afp |
T |
C |
5: 90,639,610 (GRCm39) |
|
probably null |
Het |
| Ap1g2 |
T |
C |
14: 55,337,987 (GRCm39) |
T634A |
probably benign |
Het |
| Cidec |
A |
G |
6: 113,410,133 (GRCm39) |
V32A |
probably benign |
Het |
| Dip2a |
G |
A |
10: 76,140,982 (GRCm39) |
P315S |
possibly damaging |
Het |
| Hoxc11 |
T |
C |
15: 102,863,178 (GRCm39) |
V73A |
probably benign |
Het |
| Jmjd1c |
A |
G |
10: 67,067,849 (GRCm39) |
Y1784C |
probably damaging |
Het |
| Mmp21 |
A |
G |
7: 133,276,403 (GRCm39) |
V480A |
probably benign |
Het |
| Nek4 |
C |
T |
14: 30,697,247 (GRCm39) |
T471I |
probably benign |
Het |
| Nr4a2 |
A |
G |
2: 57,000,199 (GRCm39) |
V299A |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,697 (GRCm39) |
S73T |
possibly damaging |
Het |
| Or6c5 |
A |
G |
10: 129,074,272 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ptprg |
A |
G |
14: 12,225,552 (GRCm38) |
D505G |
probably damaging |
Het |
| Rag2 |
A |
G |
2: 101,460,608 (GRCm39) |
D306G |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,746,426 (GRCm39) |
S38T |
possibly damaging |
Het |
| Scart2 |
A |
G |
7: 139,874,746 (GRCm39) |
H408R |
probably benign |
Het |
| Scgb2b7 |
A |
T |
7: 31,404,506 (GRCm39) |
C65S |
probably damaging |
Het |
| Smyd5 |
T |
A |
6: 85,409,000 (GRCm39) |
M5K |
probably benign |
Het |
| Stkld1 |
A |
T |
2: 26,842,789 (GRCm39) |
H587L |
probably benign |
Het |
| Taf4b |
A |
G |
18: 14,954,585 (GRCm39) |
T554A |
probably benign |
Het |
| Tex16 |
C |
A |
X: 111,028,552 (GRCm39) |
D350E |
possibly damaging |
Het |
| Tex38 |
T |
C |
4: 115,637,723 (GRCm39) |
K27E |
possibly damaging |
Het |
| Trdv4 |
T |
C |
14: 54,312,875 (GRCm39) |
L83P |
possibly damaging |
Het |
| Ugt2a3 |
G |
A |
5: 87,484,439 (GRCm39) |
P195L |
probably damaging |
Het |
| Vmn1r120 |
A |
G |
7: 20,787,450 (GRCm39) |
L87P |
probably damaging |
Het |
| Zfp236 |
T |
C |
18: 82,648,733 (GRCm39) |
D916G |
possibly 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 |
|
|
IGL01546:Slx4ip
|
APN |
2 |
136,908,119 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation