Incidental Mutation 'R5465:Slx4ip'
| ID |
433195 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slx4ip
|
| Ensembl Gene |
ENSMUSG00000027281 |
| Gene Name |
SLX4 interacting protein |
| Synonyms |
2410004I22Rik, 2210009G21Rik |
| MMRRC Submission |
043026-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5465 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
136733138-136913870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 136846867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 44
(L44R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028737]
[ENSMUST00000099311]
[ENSMUST00000141463]
[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 damaging
Transcript: ENSMUST00000099311
AA Change: L44R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: L44R
| 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: ENSMUST00000141463
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000180277
AA Change: L44R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: L44R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp1 |
T |
C |
7: 30,136,277 (GRCm39) |
D500G |
probably benign |
Het |
| Atg7 |
G |
A |
6: 114,629,493 (GRCm39) |
G4R |
probably benign |
Het |
| Atp11b |
G |
A |
3: 35,864,333 (GRCm39) |
V302I |
probably benign |
Het |
| Cacna1b |
C |
T |
2: 24,540,438 (GRCm39) |
|
probably null |
Het |
| Ccna1 |
T |
C |
3: 54,953,065 (GRCm39) |
H234R |
probably benign |
Het |
| Cplx2 |
G |
A |
13: 54,527,352 (GRCm39) |
E79K |
possibly damaging |
Het |
| Dnai4 |
T |
A |
4: 102,906,758 (GRCm39) |
D685V |
probably damaging |
Het |
| Gnb2 |
A |
G |
5: 137,526,775 (GRCm39) |
I380T |
probably damaging |
Het |
| Gpr162 |
A |
T |
6: 124,838,134 (GRCm39) |
V172D |
probably damaging |
Het |
| Gtf2a1 |
A |
C |
12: 91,534,565 (GRCm39) |
F191V |
possibly damaging |
Het |
| Ift172 |
A |
T |
5: 31,418,862 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
T |
C |
1: 32,658,255 (GRCm39) |
Y272H |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,749,990 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
C |
2: 121,136,506 (GRCm39) |
S2203P |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,654 (GRCm39) |
L867Q |
probably benign |
Het |
| Ncapd2 |
A |
T |
6: 125,153,746 (GRCm39) |
F656L |
probably damaging |
Het |
| Or51f5 |
A |
G |
7: 102,424,640 (GRCm39) |
K303R |
probably benign |
Het |
| Or5b109 |
T |
C |
19: 13,212,052 (GRCm39) |
I146T |
probably benign |
Het |
| Or7c70 |
T |
C |
10: 78,682,852 (GRCm39) |
K299R |
probably benign |
Het |
| Pcdhb6 |
A |
T |
18: 37,467,783 (GRCm39) |
I235F |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,463,924 (GRCm39) |
S1395P |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,325 (GRCm39) |
T412N |
possibly damaging |
Het |
| Rtn4r |
A |
T |
16: 17,969,291 (GRCm39) |
M240L |
probably benign |
Het |
| Slit2 |
C |
T |
5: 48,407,254 (GRCm39) |
T895I |
probably damaging |
Het |
| Sptbn2 |
C |
A |
19: 4,800,133 (GRCm39) |
Q2196K |
probably benign |
Het |
| Tbc1d16 |
G |
A |
11: 119,046,885 (GRCm39) |
S454L |
probably benign |
Het |
| Tet1 |
T |
C |
10: 62,675,556 (GRCm39) |
H840R |
probably benign |
Het |
| Usp47 |
C |
T |
7: 111,658,209 (GRCm39) |
T176M |
probably damaging |
Het |
| Utp6 |
A |
T |
11: 79,839,836 (GRCm39) |
I284N |
probably benign |
Het |
| Vcpip1 |
T |
C |
1: 9,817,372 (GRCm39) |
H337R |
probably benign |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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'- TGATGTAAGCCAGCATCAGG -3'
(R):5'- TATGCGGACATGACAGAGTG -3'
Sequencing Primer
(F):5'- GCTTGAAGCCATCTTTGATAGTATG -3'
(R):5'- ACAAGGGACTGGATCTTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation