Incidental Mutation 'R2427:Slx4'
| ID |
250289 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slx4
|
| Ensembl Gene |
ENSMUSG00000039738 |
| Gene Name |
SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) |
| Synonyms |
D16Bwg1016e, Btbd12 |
| MMRRC Submission |
040389-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2427 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
16 |
| Chromosomal Location |
3796969-3821634 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 3806851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 531
(L531F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038871
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040790]
|
| AlphaFold |
Q6P1D7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040790
AA Change: L531F
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038871
Gene: ENSMUSG00000039738
AA Change: L531F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
400 |
413 |
N/A |
INTRINSIC |
|
BTB
|
506 |
609 |
6.15e-7 |
SMART |
|
low complexity region
|
651 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
833 |
849 |
N/A |
INTRINSIC |
|
low complexity region
|
857 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
1176 |
1192 |
N/A |
INTRINSIC |
|
low complexity region
|
1437 |
1461 |
N/A |
INTRINSIC |
|
Pfam:Slx4
|
1484 |
1541 |
3e-17 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128980
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146569
AA Change: L40F
|
| SMART Domains |
Protein: ENSMUSP00000126423
Gene: ENSMUSG00000039738
AA Change: L40F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BTB
|
6 |
102 |
6.7e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156542
|
| Meta Mutation Damage Score |
0.1703 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein containing a BTB (POZ) domain that comprises a subunit of structure-specific endonucleases. The encoded protein aids in the resolution of DNA secondary structures that arise during the processes of DNA repair and recombination. Knock out of this gene in mouse recapitulates the phenotype of the human disease Fanconi anemia, including blood cytopenia and susceptibility to genomic instability. [provided by RefSeq, Dec 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit some preweaning lethality, reduced fertility, abnormal eye morphology, abnormal skeletal morphology, hydrocephalus, chromosomal instability, early cellular replicative senescence, and abnormal lymphopoeisis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankmy1 |
A |
G |
1: 92,798,529 (GRCm39) |
|
probably null |
Het |
| Atp2a1 |
T |
A |
7: 126,045,755 (GRCm39) |
*995L |
probably null |
Het |
| Axin2 |
T |
A |
11: 108,814,800 (GRCm39) |
N229K |
possibly damaging |
Het |
| Capn13 |
A |
T |
17: 73,633,312 (GRCm39) |
|
probably benign |
Het |
| Ccdc180 |
A |
G |
4: 45,929,545 (GRCm39) |
I1202V |
probably benign |
Het |
| Cep295 |
A |
G |
9: 15,245,534 (GRCm39) |
L974P |
probably damaging |
Het |
| Cers3 |
T |
C |
7: 66,445,541 (GRCm39) |
Y321H |
probably benign |
Het |
| Chrnb4 |
T |
C |
9: 54,942,101 (GRCm39) |
Y391C |
probably benign |
Het |
| Ciao1 |
T |
C |
2: 127,088,611 (GRCm39) |
H104R |
probably damaging |
Het |
| Cldn4 |
A |
T |
5: 134,975,331 (GRCm39) |
V90E |
probably damaging |
Het |
| Crbn |
T |
C |
6: 106,760,433 (GRCm39) |
E253G |
probably damaging |
Het |
| Ctns |
A |
G |
11: 73,087,512 (GRCm39) |
W5R |
probably damaging |
Het |
| Eme1 |
G |
A |
11: 94,541,801 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,638 (GRCm39) |
T479S |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,481,928 (GRCm39) |
N253D |
probably benign |
Het |
| Fer |
A |
G |
17: 64,264,298 (GRCm39) |
I39V |
probably benign |
Het |
| Fmnl2 |
A |
G |
2: 53,006,991 (GRCm39) |
M768V |
probably damaging |
Het |
| Frg1 |
T |
C |
8: 41,867,903 (GRCm39) |
K24E |
probably damaging |
Het |
| I830077J02Rik |
G |
T |
3: 105,835,320 (GRCm39) |
A19D |
probably damaging |
Het |
| Ighv1-20 |
C |
T |
12: 114,687,692 (GRCm39) |
|
silent |
Het |
| Igsf9 |
A |
G |
1: 172,318,306 (GRCm39) |
S149G |
probably damaging |
Het |
| Klra10 |
T |
A |
6: 130,256,298 (GRCm39) |
I119F |
probably benign |
Het |
| Lrrc4b |
T |
A |
7: 44,111,976 (GRCm39) |
I616N |
probably damaging |
Het |
| Lrrc71 |
T |
C |
3: 87,653,309 (GRCm39) |
T64A |
probably benign |
Het |
| Ly9 |
A |
T |
1: 171,434,800 (GRCm39) |
I31N |
probably damaging |
Het |
| Mef2a |
A |
G |
7: 66,915,808 (GRCm39) |
S165P |
probably damaging |
Het |
| Nol4 |
T |
G |
18: 22,983,755 (GRCm39) |
|
probably benign |
Het |
| Nt5el |
T |
C |
13: 105,246,269 (GRCm39) |
F277L |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,944,709 (GRCm39) |
|
probably null |
Het |
| Rab27b |
T |
C |
18: 70,129,205 (GRCm39) |
T30A |
probably damaging |
Het |
| Rasa4 |
A |
G |
5: 136,130,881 (GRCm39) |
D384G |
probably benign |
Het |
| Tafa4 |
C |
T |
6: 96,991,328 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,557 (GRCm39) |
|
probably null |
Het |
| Tpm2 |
T |
C |
4: 43,523,306 (GRCm39) |
N17D |
probably damaging |
Het |
| Tyrp1 |
A |
G |
4: 80,769,108 (GRCm39) |
T134A |
probably benign |
Het |
| Zfand6 |
T |
A |
7: 84,283,498 (GRCm39) |
K35* |
probably null |
Het |
| Zfp648 |
G |
A |
1: 154,080,819 (GRCm39) |
C326Y |
probably damaging |
Het |
|
| Other mutations in Slx4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01143:Slx4
|
APN |
16 |
3,808,752 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL01767:Slx4
|
APN |
16 |
3,808,112 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02525:Slx4
|
APN |
16 |
3,798,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
slim
|
UTSW |
16 |
3,808,774 (GRCm39) |
nonsense |
probably null |
|
|
R0033:Slx4
|
UTSW |
16 |
3,805,864 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0070:Slx4
|
UTSW |
16 |
3,805,880 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0070:Slx4
|
UTSW |
16 |
3,805,880 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R0242:Slx4
|
UTSW |
16 |
3,804,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0242:Slx4
|
UTSW |
16 |
3,804,816 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0363:Slx4
|
UTSW |
16 |
3,797,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0433:Slx4
|
UTSW |
16 |
3,803,882 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0993:Slx4
|
UTSW |
16 |
3,803,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1083:Slx4
|
UTSW |
16 |
3,808,774 (GRCm39) |
nonsense |
probably null |
|
|
R1373:Slx4
|
UTSW |
16 |
3,803,374 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1710:Slx4
|
UTSW |
16 |
3,817,022 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1712:Slx4
|
UTSW |
16 |
3,809,458 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1874:Slx4
|
UTSW |
16 |
3,804,712 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1937:Slx4
|
UTSW |
16 |
3,805,030 (GRCm39) |
makesense |
probably null |
|
|
R2008:Slx4
|
UTSW |
16 |
3,797,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2156:Slx4
|
UTSW |
16 |
3,804,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3765:Slx4
|
UTSW |
16 |
3,798,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Slx4
|
UTSW |
16 |
3,797,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Slx4
|
UTSW |
16 |
3,797,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:Slx4
|
UTSW |
16 |
3,806,919 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4467:Slx4
|
UTSW |
16 |
3,806,919 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4497:Slx4
|
UTSW |
16 |
3,812,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4882:Slx4
|
UTSW |
16 |
3,798,860 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5119:Slx4
|
UTSW |
16 |
3,819,063 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5384:Slx4
|
UTSW |
16 |
3,808,669 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5472:Slx4
|
UTSW |
16 |
3,809,404 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5578:Slx4
|
UTSW |
16 |
3,804,726 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5582:Slx4
|
UTSW |
16 |
3,803,652 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5696:Slx4
|
UTSW |
16 |
3,797,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5827:Slx4
|
UTSW |
16 |
3,819,148 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5964:Slx4
|
UTSW |
16 |
3,818,815 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6032:Slx4
|
UTSW |
16 |
3,798,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6032:Slx4
|
UTSW |
16 |
3,798,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Slx4
|
UTSW |
16 |
3,803,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6039:Slx4
|
UTSW |
16 |
3,803,911 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6345:Slx4
|
UTSW |
16 |
3,808,714 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6612:Slx4
|
UTSW |
16 |
3,803,140 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6979:Slx4
|
UTSW |
16 |
3,802,879 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6989:Slx4
|
UTSW |
16 |
3,813,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7171:Slx4
|
UTSW |
16 |
3,808,650 (GRCm39) |
missense |
probably benign |
|
|
R7214:Slx4
|
UTSW |
16 |
3,806,844 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7354:Slx4
|
UTSW |
16 |
3,804,963 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7490:Slx4
|
UTSW |
16 |
3,797,995 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7545:Slx4
|
UTSW |
16 |
3,817,164 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7547:Slx4
|
UTSW |
16 |
3,803,436 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7790:Slx4
|
UTSW |
16 |
3,804,846 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8119:Slx4
|
UTSW |
16 |
3,803,136 (GRCm39) |
nonsense |
probably null |
|
|
R8815:Slx4
|
UTSW |
16 |
3,803,458 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8955:Slx4
|
UTSW |
16 |
3,808,111 (GRCm39) |
missense |
probably benign |
|
|
R9205:Slx4
|
UTSW |
16 |
3,805,927 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R9321:Slx4
|
UTSW |
16 |
3,804,654 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9364:Slx4
|
UTSW |
16 |
3,805,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9544:Slx4
|
UTSW |
16 |
3,797,917 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9554:Slx4
|
UTSW |
16 |
3,805,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9632:Slx4
|
UTSW |
16 |
3,803,969 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9665:Slx4
|
UTSW |
16 |
3,806,890 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9718:Slx4
|
UTSW |
16 |
3,804,328 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R9772:Slx4
|
UTSW |
16 |
3,818,849 (GRCm39) |
missense |
|
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACGCAGATCAAGCAGTGTG -3'
(R):5'- GCCCAGTCATGAGAAGTTAGC -3'
Sequencing Primer
(F):5'- CCTGTGTGGTGGCTCAAGC -3'
(R):5'- CCCAGTCATGAGAAGTTAGCAAAGTG -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation