Incidental Mutation 'R2914:Slx4ip'
| ID |
254787 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slx4ip
|
| Ensembl Gene |
ENSMUSG00000027281 |
| Gene Name |
SLX4 interacting protein |
| Synonyms |
2410004I22Rik, 2210009G21Rik |
| MMRRC Submission |
040501-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2914 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
136733138-136913870 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 136909511 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136131
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028737]
[ENSMUST00000099311]
[ENSMUST00000180277]
[ENSMUST00000180277]
|
| AlphaFold |
Q9D7Y9 |
| Predicted Effect |
probably null
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 null
Transcript: ENSMUST00000099311
|
| SMART Domains |
Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
| 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
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000180277
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.9493 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
A |
G |
5: 30,401,992 (GRCm39) |
S679P |
probably damaging |
Het |
| Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
| Cryl1 |
T |
C |
14: 57,513,375 (GRCm39) |
E282G |
probably benign |
Het |
| Dbn1 |
A |
G |
13: 55,630,234 (GRCm39) |
F45L |
probably damaging |
Het |
| Dclre1b |
T |
C |
3: 103,715,430 (GRCm39) |
M105V |
probably damaging |
Het |
| Defb12 |
T |
C |
8: 19,164,830 (GRCm39) |
N3D |
probably benign |
Het |
| Eprs1 |
G |
A |
1: 185,111,939 (GRCm39) |
|
probably null |
Het |
| Fa2h |
T |
C |
8: 112,120,281 (GRCm39) |
D35G |
probably damaging |
Het |
| Fdxacb1 |
C |
T |
9: 50,679,699 (GRCm39) |
A39V |
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,881,774 (GRCm39) |
R2502K |
probably benign |
Het |
| Grm1 |
A |
G |
10: 10,955,601 (GRCm39) |
S228P |
probably benign |
Het |
| Il27ra |
T |
A |
8: 84,758,242 (GRCm39) |
|
probably benign |
Het |
| Lrrtm1 |
A |
T |
6: 77,221,962 (GRCm39) |
Q473L |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,369,704 (GRCm39) |
I121F |
probably damaging |
Het |
| Mael |
A |
T |
1: 166,054,179 (GRCm39) |
F188I |
probably damaging |
Het |
| Mapk4 |
C |
T |
18: 74,068,236 (GRCm39) |
A232T |
probably benign |
Het |
| Mrpl9 |
C |
A |
3: 94,351,108 (GRCm39) |
T96K |
probably damaging |
Het |
| Musk |
C |
A |
4: 58,366,938 (GRCm39) |
L511I |
probably damaging |
Het |
| Mutyh |
G |
A |
4: 116,672,826 (GRCm39) |
D60N |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,954,274 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,578,670 (GRCm39) |
|
probably benign |
Het |
| Otud7b |
C |
A |
3: 96,063,272 (GRCm39) |
A837E |
probably benign |
Het |
| Pigb |
A |
T |
9: 72,947,060 (GRCm39) |
|
probably null |
Het |
| Pip4k2b |
G |
T |
11: 97,613,260 (GRCm39) |
N245K |
probably benign |
Het |
| Ptprd |
T |
A |
4: 75,865,338 (GRCm39) |
D1464V |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,537,074 (GRCm39) |
N98S |
probably benign |
Het |
| Rictor |
G |
T |
15: 6,799,476 (GRCm39) |
|
probably null |
Het |
| Rims1 |
T |
C |
1: 22,844,711 (GRCm39) |
E32G |
probably damaging |
Het |
| Snx19 |
G |
A |
9: 30,344,828 (GRCm39) |
|
probably benign |
Het |
| Snx29 |
C |
T |
16: 11,265,317 (GRCm39) |
R516W |
probably damaging |
Het |
| Tcof1 |
T |
C |
18: 60,949,156 (GRCm39) |
D1253G |
possibly damaging |
Het |
| Tmod1 |
A |
T |
4: 46,092,259 (GRCm39) |
N203I |
probably damaging |
Het |
| Tmprss15 |
T |
C |
16: 78,759,078 (GRCm39) |
N880S |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,599,979 (GRCm39) |
I19065N |
probably damaging |
Het |
| Txk |
T |
C |
5: 72,881,794 (GRCm39) |
N154S |
probably damaging |
Het |
| Utp20 |
A |
G |
10: 88,590,337 (GRCm39) |
|
probably null |
Het |
| Vmn1r65 |
T |
A |
7: 6,012,040 (GRCm39) |
I65F |
possibly damaging |
Het |
| Yes1 |
T |
C |
5: 32,797,926 (GRCm39) |
S82P |
probably benign |
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 |
|
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'- GTATATCAACCCCAGGCATTATTTG -3'
(R):5'- CCAGCTTTTGAACAGGAAGCTC -3'
Sequencing Primer
(F):5'- TCATTGTGATTCCATTGATGAACC -3'
(R):5'- AAGCTCCTGGTGGCTCTTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation