Incidental Mutation 'R6338:Slf1'
ID |
514350 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slf1
|
Ensembl Gene |
ENSMUSG00000021597 |
Gene Name |
SMC5-SMC6 complex localization factor 1 |
Synonyms |
Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik |
MMRRC Submission |
044492-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6338 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 77232581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
[ENSMUST00000151524]
|
AlphaFold |
Q8R3P9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000151524
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597
Domain | Start | End | E-Value | Type |
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
BRCT
|
121 |
199 |
2.12e1 |
SMART |
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
low complexity region
|
527 |
541 |
N/A |
INTRINSIC |
low complexity region
|
765 |
785 |
N/A |
INTRINSIC |
ANK
|
802 |
832 |
1.52e0 |
SMART |
ANK
|
836 |
865 |
4.32e-5 |
SMART |
ANK
|
870 |
900 |
2.07e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000151524
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597
Domain | Start | End | E-Value | Type |
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
BRCT
|
121 |
199 |
2.12e1 |
SMART |
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
low complexity region
|
527 |
541 |
N/A |
INTRINSIC |
low complexity region
|
765 |
785 |
N/A |
INTRINSIC |
ANK
|
802 |
832 |
1.52e0 |
SMART |
ANK
|
836 |
865 |
4.32e-5 |
SMART |
ANK
|
870 |
900 |
2.07e-2 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.8%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes donot show any major cell cycle defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acer3 |
T |
C |
7: 97,906,922 (GRCm39) |
Y128C |
probably damaging |
Het |
Adam30 |
T |
G |
3: 98,068,857 (GRCm39) |
I102S |
probably damaging |
Het |
Adcy8 |
A |
T |
15: 64,792,466 (GRCm39) |
D163E |
possibly damaging |
Het |
Agrn |
C |
T |
4: 156,255,042 (GRCm39) |
E1614K |
probably benign |
Het |
Aldh16a1 |
A |
T |
7: 44,791,385 (GRCm39) |
W107R |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,687,490 (GRCm39) |
D238G |
probably damaging |
Het |
Arhgap11a |
T |
C |
2: 113,664,070 (GRCm39) |
S738G |
probably benign |
Het |
Arid5b |
C |
A |
10: 67,934,391 (GRCm39) |
G504* |
probably null |
Het |
Carmil3 |
T |
C |
14: 55,737,306 (GRCm39) |
V763A |
possibly damaging |
Het |
Cd209e |
T |
A |
8: 3,899,154 (GRCm39) |
D186V |
probably damaging |
Het |
Cdh23 |
T |
C |
10: 60,248,930 (GRCm39) |
D882G |
probably damaging |
Het |
Cdh4 |
T |
C |
2: 179,532,605 (GRCm39) |
V689A |
probably damaging |
Het |
Cntn6 |
T |
A |
6: 104,703,100 (GRCm39) |
V174E |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,785,701 (GRCm39) |
T390M |
unknown |
Het |
Crybg1 |
T |
C |
10: 43,868,505 (GRCm39) |
D1017G |
probably damaging |
Het |
Csmd1 |
T |
G |
8: 15,982,492 (GRCm39) |
K2725T |
possibly damaging |
Het |
Dnaaf2 |
T |
C |
12: 69,244,896 (GRCm39) |
E55G |
probably damaging |
Het |
Efcab3 |
C |
T |
11: 104,734,034 (GRCm39) |
R2027* |
probably null |
Het |
Fam13a |
A |
G |
6: 58,930,484 (GRCm39) |
V476A |
probably damaging |
Het |
Fem1b |
A |
T |
9: 62,704,293 (GRCm39) |
D322E |
probably benign |
Het |
Frmpd1 |
G |
A |
4: 45,274,489 (GRCm39) |
V466I |
probably benign |
Het |
Gm20671 |
A |
T |
5: 32,977,991 (GRCm39) |
D1794E |
probably damaging |
Het |
Gpatch2 |
G |
T |
1: 186,957,711 (GRCm39) |
R22L |
probably damaging |
Het |
Gtf2h1 |
A |
G |
7: 46,465,880 (GRCm39) |
T450A |
probably benign |
Het |
Kcnc2 |
G |
C |
10: 112,107,761 (GRCm39) |
G51R |
probably benign |
Het |
Krit1 |
T |
G |
5: 3,886,857 (GRCm39) |
M702R |
probably benign |
Het |
Krt34 |
T |
C |
11: 99,929,316 (GRCm39) |
N298S |
probably benign |
Het |
Lrrcc1 |
T |
A |
3: 14,612,376 (GRCm39) |
N376K |
possibly damaging |
Het |
Myo15a |
A |
G |
11: 60,368,959 (GRCm39) |
E573G |
probably damaging |
Het |
Or11j4 |
T |
A |
14: 50,630,857 (GRCm39) |
F215I |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,109,834 (GRCm39) |
D111V |
probably damaging |
Het |
Or1e31 |
A |
T |
11: 73,690,145 (GRCm39) |
L146Q |
possibly damaging |
Het |
Or2y17 |
A |
G |
11: 49,231,694 (GRCm39) |
S112G |
probably benign |
Het |
Or4c119 |
T |
A |
2: 88,986,715 (GRCm39) |
K268I |
probably damaging |
Het |
Or56b2 |
T |
A |
7: 104,337,378 (GRCm39) |
V52E |
possibly damaging |
Het |
Phf20 |
A |
T |
2: 156,115,606 (GRCm39) |
Q309L |
possibly damaging |
Het |
Plcd1 |
G |
A |
9: 118,904,059 (GRCm39) |
R292C |
probably damaging |
Het |
Pold3 |
A |
G |
7: 99,737,312 (GRCm39) |
V342A |
possibly damaging |
Het |
Polr2a |
A |
T |
11: 69,630,505 (GRCm39) |
|
probably null |
Het |
Ptprcap |
A |
G |
19: 4,206,223 (GRCm39) |
E102G |
probably benign |
Het |
Rab11fip5 |
T |
C |
6: 85,318,360 (GRCm39) |
E843G |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,575,062 (GRCm39) |
D632G |
probably damaging |
Het |
Rnf149 |
A |
T |
1: 39,599,823 (GRCm39) |
C268S |
probably null |
Het |
Slc6a13 |
T |
A |
6: 121,311,798 (GRCm39) |
F392I |
probably damaging |
Het |
Slc7a11 |
C |
T |
3: 50,338,492 (GRCm39) |
|
probably null |
Het |
Stard9 |
G |
A |
2: 120,527,966 (GRCm39) |
V1408I |
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,241,229 (GRCm39) |
I183T |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,205,475 (GRCm39) |
E3497G |
probably benign |
Het |
Tax1bp1 |
C |
T |
6: 52,706,361 (GRCm39) |
R121* |
probably null |
Het |
Tdpoz2 |
C |
T |
3: 93,559,643 (GRCm39) |
V110I |
probably benign |
Het |
Ubn2 |
A |
G |
6: 38,467,649 (GRCm39) |
T788A |
probably benign |
Het |
Unc13c |
T |
A |
9: 73,641,729 (GRCm39) |
I1255F |
probably damaging |
Het |
Usp44 |
G |
T |
10: 93,682,375 (GRCm39) |
R275I |
probably damaging |
Het |
Uspl1 |
A |
G |
5: 149,151,844 (GRCm39) |
N1015D |
probably benign |
Het |
Wbp2nl |
G |
T |
15: 82,183,246 (GRCm39) |
W13C |
possibly damaging |
Het |
Zc3h14 |
T |
A |
12: 98,724,849 (GRCm39) |
D170E |
possibly damaging |
Het |
|
Other mutations in Slf1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Slf1
|
APN |
13 |
77,192,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01105:Slf1
|
APN |
13 |
77,249,031 (GRCm39) |
unclassified |
probably benign |
|
IGL01108:Slf1
|
APN |
13 |
77,273,594 (GRCm39) |
splice site |
probably benign |
|
IGL01149:Slf1
|
APN |
13 |
77,260,767 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01642:Slf1
|
APN |
13 |
77,198,034 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01757:Slf1
|
APN |
13 |
77,232,559 (GRCm39) |
missense |
probably benign |
|
IGL01887:Slf1
|
APN |
13 |
77,249,101 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02323:Slf1
|
APN |
13 |
77,199,413 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02861:Slf1
|
APN |
13 |
77,274,478 (GRCm39) |
splice site |
probably benign |
|
IGL02971:Slf1
|
APN |
13 |
77,195,223 (GRCm39) |
splice site |
probably benign |
|
IGL03088:Slf1
|
APN |
13 |
77,232,554 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03215:Slf1
|
APN |
13 |
77,198,096 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02980:Slf1
|
UTSW |
13 |
77,192,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
PIT1430001:Slf1
|
UTSW |
13 |
77,198,169 (GRCm39) |
splice site |
probably benign |
|
R0036:Slf1
|
UTSW |
13 |
77,249,070 (GRCm39) |
missense |
probably benign |
0.02 |
R0036:Slf1
|
UTSW |
13 |
77,249,070 (GRCm39) |
missense |
probably benign |
0.02 |
R0125:Slf1
|
UTSW |
13 |
77,191,864 (GRCm39) |
missense |
probably benign |
0.02 |
R0230:Slf1
|
UTSW |
13 |
77,260,867 (GRCm39) |
intron |
probably benign |
|
R0244:Slf1
|
UTSW |
13 |
77,274,751 (GRCm39) |
nonsense |
probably null |
|
R0395:Slf1
|
UTSW |
13 |
77,254,088 (GRCm39) |
splice site |
probably benign |
|
R0614:Slf1
|
UTSW |
13 |
77,197,233 (GRCm39) |
missense |
probably benign |
0.10 |
R0661:Slf1
|
UTSW |
13 |
77,231,715 (GRCm39) |
missense |
probably benign |
0.31 |
R0837:Slf1
|
UTSW |
13 |
77,249,067 (GRCm39) |
splice site |
probably null |
|
R0945:Slf1
|
UTSW |
13 |
77,251,590 (GRCm39) |
unclassified |
probably benign |
|
R1282:Slf1
|
UTSW |
13 |
77,191,959 (GRCm39) |
missense |
probably damaging |
0.97 |
R1365:Slf1
|
UTSW |
13 |
77,274,490 (GRCm39) |
missense |
probably damaging |
1.00 |
R1449:Slf1
|
UTSW |
13 |
77,231,568 (GRCm39) |
missense |
probably damaging |
1.00 |
R1646:Slf1
|
UTSW |
13 |
77,214,767 (GRCm39) |
nonsense |
probably null |
|
R2071:Slf1
|
UTSW |
13 |
77,252,743 (GRCm39) |
missense |
probably benign |
0.02 |
R2141:Slf1
|
UTSW |
13 |
77,197,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2217:Slf1
|
UTSW |
13 |
77,194,825 (GRCm39) |
critical splice acceptor site |
probably null |
|
R2397:Slf1
|
UTSW |
13 |
77,251,702 (GRCm39) |
nonsense |
probably null |
|
R2520:Slf1
|
UTSW |
13 |
77,199,384 (GRCm39) |
missense |
probably damaging |
1.00 |
R3108:Slf1
|
UTSW |
13 |
77,274,840 (GRCm39) |
splice site |
probably benign |
|
R4178:Slf1
|
UTSW |
13 |
77,191,688 (GRCm39) |
missense |
probably damaging |
1.00 |
R4663:Slf1
|
UTSW |
13 |
77,274,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4730:Slf1
|
UTSW |
13 |
77,194,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4910:Slf1
|
UTSW |
13 |
77,191,999 (GRCm39) |
missense |
probably benign |
0.14 |
R4912:Slf1
|
UTSW |
13 |
77,199,413 (GRCm39) |
missense |
probably damaging |
1.00 |
R5122:Slf1
|
UTSW |
13 |
77,198,106 (GRCm39) |
missense |
probably benign |
0.01 |
R5269:Slf1
|
UTSW |
13 |
77,252,700 (GRCm39) |
missense |
probably benign |
0.33 |
R5336:Slf1
|
UTSW |
13 |
77,254,129 (GRCm39) |
makesense |
probably null |
|
R5346:Slf1
|
UTSW |
13 |
77,240,490 (GRCm39) |
missense |
probably benign |
0.00 |
R5445:Slf1
|
UTSW |
13 |
77,239,323 (GRCm39) |
missense |
probably benign |
0.10 |
R5568:Slf1
|
UTSW |
13 |
77,194,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R5622:Slf1
|
UTSW |
13 |
77,198,090 (GRCm39) |
missense |
probably benign |
0.14 |
R5685:Slf1
|
UTSW |
13 |
77,231,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
R5792:Slf1
|
UTSW |
13 |
77,214,856 (GRCm39) |
missense |
probably benign |
0.03 |
R5856:Slf1
|
UTSW |
13 |
77,254,206 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6109:Slf1
|
UTSW |
13 |
77,274,799 (GRCm39) |
missense |
probably damaging |
0.99 |
R6245:Slf1
|
UTSW |
13 |
77,232,502 (GRCm39) |
missense |
probably damaging |
1.00 |
R6438:Slf1
|
UTSW |
13 |
77,214,725 (GRCm39) |
missense |
probably damaging |
1.00 |
R6487:Slf1
|
UTSW |
13 |
77,214,736 (GRCm39) |
missense |
probably damaging |
1.00 |
R6597:Slf1
|
UTSW |
13 |
77,197,248 (GRCm39) |
missense |
probably benign |
0.01 |
R6600:Slf1
|
UTSW |
13 |
77,231,655 (GRCm39) |
missense |
probably benign |
0.00 |
R6661:Slf1
|
UTSW |
13 |
77,191,964 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Slf1
|
UTSW |
13 |
77,214,826 (GRCm39) |
missense |
probably damaging |
1.00 |
R7308:Slf1
|
UTSW |
13 |
77,199,287 (GRCm39) |
missense |
probably benign |
0.19 |
R7355:Slf1
|
UTSW |
13 |
77,239,422 (GRCm39) |
missense |
probably damaging |
1.00 |
R7546:Slf1
|
UTSW |
13 |
77,197,311 (GRCm39) |
missense |
probably benign |
|
R7807:Slf1
|
UTSW |
13 |
77,194,823 (GRCm39) |
missense |
probably damaging |
1.00 |
R8175:Slf1
|
UTSW |
13 |
77,260,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R8385:Slf1
|
UTSW |
13 |
77,254,109 (GRCm39) |
missense |
probably benign |
|
R8698:Slf1
|
UTSW |
13 |
77,197,284 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8770:Slf1
|
UTSW |
13 |
77,194,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R8786:Slf1
|
UTSW |
13 |
77,274,806 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8796:Slf1
|
UTSW |
13 |
77,214,784 (GRCm39) |
missense |
probably benign |
0.00 |
R8932:Slf1
|
UTSW |
13 |
77,194,693 (GRCm39) |
missense |
probably damaging |
1.00 |
R9132:Slf1
|
UTSW |
13 |
77,249,073 (GRCm39) |
missense |
probably benign |
0.24 |
R9243:Slf1
|
UTSW |
13 |
77,273,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9274:Slf1
|
UTSW |
13 |
77,191,669 (GRCm39) |
makesense |
probably null |
|
R9286:Slf1
|
UTSW |
13 |
77,191,932 (GRCm39) |
missense |
probably damaging |
0.99 |
R9416:Slf1
|
UTSW |
13 |
77,194,656 (GRCm39) |
missense |
|
|
R9612:Slf1
|
UTSW |
13 |
77,197,204 (GRCm39) |
critical splice donor site |
probably null |
|
X0018:Slf1
|
UTSW |
13 |
77,199,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGCAAAACTTCACTGCCATTAGATTG -3'
(R):5'- AGGGGACTTTTGGGAAAGCATTTC -3'
Sequencing Primer
(F):5'- CTTCACTGCCATTAGATTGTGTATG -3'
(R):5'- GGACTTTTGGGAAAGCATTTCAAATG -3'
|
Posted On |
2018-04-27 |