Incidental Mutation 'R6391:Slx4ip'
| ID |
515752 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slx4ip
|
| Ensembl Gene |
ENSMUSG00000027281 |
| Gene Name |
SLX4 interacting protein |
| Synonyms |
2410004I22Rik, 2210009G21Rik |
| MMRRC Submission |
044540-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6391 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
136733138-136913870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 136888669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 117
(C117S)
|
| 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 damaging
Transcript: ENSMUST00000099311
AA Change: C117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096914
Gene: ENSMUSG00000027281
AA Change: C117S
| 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 damaging
Transcript: ENSMUST00000180277
AA Change: C117S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136131
Gene: ENSMUSG00000027281
AA Change: C117S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
341 |
362 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bcl7b |
G |
T |
5: 135,208,879 (GRCm39) |
S114I |
probably damaging |
Het |
| Cct8 |
A |
T |
16: 87,284,566 (GRCm39) |
M207K |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,769,702 (GRCm39) |
|
probably null |
Het |
| Cst13 |
T |
C |
2: 148,670,111 (GRCm39) |
C94R |
probably damaging |
Het |
| Cyp8b1 |
G |
T |
9: 121,744,864 (GRCm39) |
S156* |
probably null |
Het |
| Dip2b |
T |
C |
15: 100,049,157 (GRCm39) |
S184P |
probably damaging |
Het |
| Dmbt1 |
T |
C |
7: 130,659,984 (GRCm39) |
W516R |
probably damaging |
Het |
| Dock8 |
A |
T |
19: 25,072,914 (GRCm39) |
Y398F |
possibly damaging |
Het |
| Drosha |
T |
A |
15: 12,889,803 (GRCm39) |
C890* |
probably null |
Het |
| Eed |
A |
G |
7: 89,626,149 (GRCm39) |
S75P |
probably benign |
Het |
| Efcab3 |
T |
C |
11: 104,885,143 (GRCm39) |
L4134S |
possibly damaging |
Het |
| Etaa1 |
A |
C |
11: 17,896,833 (GRCm39) |
I428S |
probably benign |
Het |
| F5 |
A |
T |
1: 164,021,062 (GRCm39) |
D1179V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,405,379 (GRCm39) |
V710A |
possibly damaging |
Het |
| Fmo4 |
G |
A |
1: 162,621,538 (GRCm39) |
Q558* |
probably null |
Het |
| Gm7361 |
A |
G |
5: 26,463,960 (GRCm39) |
I72V |
probably benign |
Het |
| Grm4 |
A |
G |
17: 27,654,294 (GRCm39) |
V552A |
probably benign |
Het |
| Krt13 |
T |
A |
11: 100,010,202 (GRCm39) |
I260F |
probably damaging |
Het |
| Krtap3-3 |
T |
C |
11: 99,441,490 (GRCm39) |
D49G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,614,554 (GRCm39) |
E409G |
probably benign |
Het |
| Ly9 |
A |
G |
1: 171,428,576 (GRCm39) |
V238A |
possibly damaging |
Het |
| Map2k6 |
T |
C |
11: 110,381,703 (GRCm39) |
|
probably null |
Het |
| Mylk2 |
T |
C |
2: 152,759,315 (GRCm39) |
L362P |
probably damaging |
Het |
| Or4c120 |
T |
A |
2: 89,000,942 (GRCm39) |
I205F |
probably benign |
Het |
| Or4c3 |
A |
G |
2: 89,851,975 (GRCm39) |
V145A |
probably benign |
Het |
| Or51a6 |
T |
A |
7: 102,604,622 (GRCm39) |
Y69F |
possibly damaging |
Het |
| Pcdha9 |
G |
A |
18: 37,130,972 (GRCm39) |
V14M |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,578,418 (GRCm39) |
E380D |
probably damaging |
Het |
| Piezo2 |
A |
G |
18: 63,239,364 (GRCm39) |
Y739H |
possibly damaging |
Het |
| Pigk |
A |
G |
3: 152,446,486 (GRCm39) |
H195R |
probably benign |
Het |
| Plin2 |
T |
C |
4: 86,580,236 (GRCm39) |
D175G |
probably null |
Het |
| Plk4 |
T |
A |
3: 40,763,408 (GRCm39) |
H526Q |
probably benign |
Het |
| Pom121l12 |
A |
T |
11: 14,549,489 (GRCm39) |
D65V |
probably damaging |
Het |
| Prb1a |
T |
C |
6: 132,184,139 (GRCm39) |
Y498C |
unknown |
Het |
| Sh3bp2 |
G |
A |
5: 34,718,947 (GRCm39) |
V495I |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,551 (GRCm39) |
S20R |
probably benign |
Het |
| Unc79 |
A |
G |
12: 102,987,269 (GRCm39) |
Y186C |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r26 |
T |
C |
6: 124,038,348 (GRCm39) |
L641P |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,114,495 (GRCm39) |
S674T |
probably benign |
Het |
| Zfp959 |
T |
C |
17: 56,202,854 (GRCm39) |
F10L |
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 |
|
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 |
|
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'- AACTCACTCTGCCCAAGTGG -3'
(R):5'- TGCTGATAATAAAAGACACCCTGG -3'
Sequencing Primer
(F):5'- CAAGTGGTGGAAATCTTGTAGAG -3'
(R):5'- TGATAATAAAAGACACCCTGGAACAC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation