Incidental Mutation 'R0561:Slx4ip'
| ID |
45856 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R0561 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
136733138-136913870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 136908090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 79
(E79G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028737
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028737]
[ENSMUST00000099311]
[ENSMUST00000180277]
|
| AlphaFold |
Q9D7Y9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028737
AA Change: E79G
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000028737
Gene: ENSMUSG00000027281
AA Change: E79G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
271 |
292 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000099311
AA Change: E149G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: E149G
| 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 null
Transcript: ENSMUST00000180277
AA Change: E149G
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: E149G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adck1 |
A |
G |
12: 88,335,204 (GRCm39) |
D30G |
possibly damaging |
Het |
| Apc |
A |
T |
18: 34,446,356 (GRCm39) |
H1050L |
possibly damaging |
Het |
| Armc2 |
A |
G |
10: 41,869,188 (GRCm39) |
V166A |
probably benign |
Het |
| Atp6v1b1 |
A |
T |
6: 83,730,793 (GRCm39) |
I173F |
probably damaging |
Het |
| Bpifb4 |
A |
G |
2: 153,786,742 (GRCm39) |
D298G |
probably damaging |
Het |
| C4b |
T |
A |
17: 34,953,391 (GRCm39) |
S1031C |
probably damaging |
Het |
| Calcr |
A |
G |
6: 3,692,630 (GRCm39) |
I408T |
probably damaging |
Het |
| Catsperg1 |
T |
C |
7: 28,881,737 (GRCm39) |
N1009S |
probably damaging |
Het |
| Ces2a |
T |
C |
8: 105,464,165 (GRCm39) |
S266P |
probably benign |
Het |
| Chrna1 |
A |
G |
2: 73,396,596 (GRCm39) |
V433A |
possibly damaging |
Het |
| Ctnnb1 |
G |
A |
9: 120,780,788 (GRCm39) |
V291M |
probably damaging |
Het |
| Dcbld1 |
T |
C |
10: 52,138,032 (GRCm39) |
Y99H |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,470,828 (GRCm39) |
H1440L |
possibly damaging |
Het |
| Dsg1c |
A |
T |
18: 20,407,832 (GRCm39) |
I393L |
probably benign |
Het |
| Eif5 |
G |
T |
12: 111,506,950 (GRCm39) |
R128L |
probably benign |
Het |
| Ercc3 |
A |
G |
18: 32,378,592 (GRCm39) |
D191G |
possibly damaging |
Het |
| Gp1ba |
A |
T |
11: 70,530,416 (GRCm39) |
|
probably benign |
Het |
| Krt24 |
C |
T |
11: 99,175,439 (GRCm39) |
E199K |
probably damaging |
Het |
| Lrif1 |
G |
T |
3: 106,639,481 (GRCm39) |
A164S |
probably damaging |
Het |
| Map2 |
A |
G |
1: 66,464,656 (GRCm39) |
D1682G |
probably damaging |
Het |
| Megf8 |
C |
T |
7: 25,028,257 (GRCm39) |
P274S |
probably benign |
Het |
| Mslnl |
C |
T |
17: 25,962,177 (GRCm39) |
Q192* |
probably null |
Het |
| Nfkb2 |
T |
C |
19: 46,298,301 (GRCm39) |
V535A |
possibly damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,662 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4a66 |
A |
G |
2: 88,530,914 (GRCm39) |
I253T |
possibly damaging |
Het |
| Or4c11 |
T |
A |
2: 88,695,024 (GRCm39) |
V25E |
possibly damaging |
Het |
| Or7a37 |
T |
A |
10: 78,805,729 (GRCm39) |
L82* |
probably null |
Het |
| Or8b37 |
G |
T |
9: 37,959,123 (GRCm39) |
V202L |
probably benign |
Het |
| Or8g22 |
C |
T |
9: 38,958,669 (GRCm39) |
M15I |
probably damaging |
Het |
| Pag1 |
T |
A |
3: 9,764,481 (GRCm39) |
Y224F |
probably damaging |
Het |
| Pbrm1 |
A |
C |
14: 30,757,948 (GRCm39) |
I193L |
probably benign |
Het |
| Phrf1 |
T |
C |
7: 140,834,876 (GRCm39) |
V17A |
probably benign |
Het |
| Plekhg2 |
T |
G |
7: 28,069,908 (GRCm39) |
T42P |
probably benign |
Het |
| Pmp22 |
T |
A |
11: 63,025,250 (GRCm39) |
W28R |
probably damaging |
Het |
| Ppp1r13b |
A |
T |
12: 111,832,880 (GRCm39) |
H82Q |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,541,668 (GRCm39) |
|
probably null |
Het |
| Rtl1 |
A |
G |
12: 109,560,363 (GRCm39) |
V492A |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,857,527 (GRCm39) |
|
probably null |
Het |
| Syde1 |
C |
T |
10: 78,425,210 (GRCm39) |
R267H |
probably damaging |
Het |
| Tas2r114 |
A |
G |
6: 131,666,758 (GRCm39) |
I90T |
probably benign |
Het |
| Tjp3 |
C |
T |
10: 81,109,674 (GRCm39) |
G843D |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,550,304 (GRCm39) |
M453K |
possibly damaging |
Het |
| Ttc39a |
A |
T |
4: 109,297,799 (GRCm39) |
Y408F |
probably damaging |
Het |
| Usp39 |
T |
G |
6: 72,313,368 (GRCm39) |
Q274P |
probably damaging |
Het |
| Uvrag |
C |
T |
7: 98,537,768 (GRCm39) |
V476I |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,860,372 (GRCm39) |
T332S |
probably damaging |
Het |
| Vcan |
T |
A |
13: 89,879,583 (GRCm39) |
H22L |
possibly damaging |
Het |
| Wls |
A |
G |
3: 159,578,705 (GRCm39) |
D89G |
probably benign |
Het |
| Zfhx2 |
A |
T |
14: 55,303,346 (GRCm39) |
V1546E |
probably benign |
Het |
| Zfp457 |
T |
A |
13: 67,442,134 (GRCm39) |
H147L |
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 |
|
|
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 |
|
IGL03261:Slx4ip
|
APN |
2 |
136,888,659 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGCCACAGAGTTACCAGATATTG -3'
(R):5'- GCTTCTGACTGGGTTCCATACACAC -3'
Sequencing Primer
(F):5'- CTTGGGATTCGCAGTTTCAC -3'
(R):5'- GGGTTCCATACACACTGTCATTAAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation