Incidental Mutation 'R6597:Slf1'
ID |
524973 |
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 |
044721-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6597 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 77197248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 789
(S789P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
AlphaFold |
Q8R3P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: S789P
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597 AA Change: S789P
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 |
noncoding transcript
Transcript: ENSMUST00000162005
|
Meta Mutation Damage Score |
0.1065 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
100% (50/50) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,625,080 (GRCm39) |
Y486C |
probably damaging |
Het |
Asb17 |
A |
T |
3: 153,550,321 (GRCm39) |
T118S |
probably damaging |
Het |
Atl2 |
T |
A |
17: 80,160,195 (GRCm39) |
D293V |
possibly damaging |
Het |
Bbs1 |
T |
A |
19: 4,949,334 (GRCm39) |
M242L |
probably benign |
Het |
Btg1 |
T |
A |
10: 96,454,182 (GRCm39) |
S65T |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,834,902 (GRCm39) |
D1101G |
possibly damaging |
Het |
Cmpk2 |
G |
T |
12: 26,524,144 (GRCm39) |
V314L |
possibly damaging |
Het |
Fbxl8 |
A |
C |
8: 105,995,523 (GRCm39) |
D345A |
probably benign |
Het |
Gys2 |
T |
A |
6: 142,402,035 (GRCm39) |
H268L |
probably benign |
Het |
Hecw1 |
T |
A |
13: 14,491,403 (GRCm39) |
R117* |
probably null |
Het |
Hoxd10 |
G |
A |
2: 74,522,984 (GRCm39) |
A221T |
probably benign |
Het |
Hspa13 |
A |
T |
16: 75,562,085 (GRCm39) |
L38Q |
probably damaging |
Het |
Inava |
G |
T |
1: 136,153,927 (GRCm39) |
A87E |
probably damaging |
Het |
Ipo11 |
A |
G |
13: 107,002,371 (GRCm39) |
|
probably null |
Het |
Itgb8 |
A |
G |
12: 119,137,133 (GRCm39) |
V390A |
possibly damaging |
Het |
Kalrn |
T |
A |
16: 34,003,117 (GRCm39) |
I1370F |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,276,485 (GRCm39) |
N6086S |
probably damaging |
Het |
Ms4a13 |
T |
C |
19: 11,170,303 (GRCm39) |
T14A |
probably benign |
Het |
Or11g26 |
T |
A |
14: 50,753,008 (GRCm39) |
C116S |
probably benign |
Het |
Or55b10 |
A |
T |
7: 102,143,628 (GRCm39) |
I118N |
probably damaging |
Het |
Or5ac22 |
C |
T |
16: 59,135,713 (GRCm39) |
R19H |
probably benign |
Het |
Or5d37 |
A |
G |
2: 87,923,413 (GRCm39) |
F289S |
probably damaging |
Het |
Or8b47 |
A |
T |
9: 38,435,300 (GRCm39) |
I91F |
probably benign |
Het |
Or9q1 |
T |
A |
19: 13,805,821 (GRCm39) |
|
probably benign |
Het |
Patl2 |
T |
A |
2: 122,016,645 (GRCm39) |
|
probably benign |
Het |
Pcdhga7 |
T |
C |
18: 37,850,059 (GRCm39) |
S689P |
probably benign |
Het |
Pitpnc1 |
G |
T |
11: 107,117,058 (GRCm39) |
Y227* |
probably null |
Het |
Pla2g2e |
T |
C |
4: 138,607,984 (GRCm39) |
V22A |
unknown |
Het |
Ppil1 |
C |
A |
17: 29,480,852 (GRCm39) |
V24F |
probably benign |
Het |
Prl3b1 |
G |
A |
13: 27,431,957 (GRCm39) |
|
probably null |
Het |
Rabgef1 |
G |
A |
5: 130,219,885 (GRCm39) |
|
probably null |
Het |
Rhot2 |
A |
T |
17: 26,059,886 (GRCm39) |
W341R |
probably damaging |
Het |
Rps6kc1 |
A |
T |
1: 190,482,381 (GRCm39) |
W286R |
probably benign |
Het |
Rrs1 |
A |
G |
1: 9,616,601 (GRCm39) |
T285A |
probably damaging |
Het |
Shc3 |
T |
A |
13: 51,597,009 (GRCm39) |
D338V |
possibly damaging |
Het |
Siglech |
A |
T |
7: 55,418,211 (GRCm39) |
M60L |
probably benign |
Het |
Slc12a6 |
G |
T |
2: 112,183,280 (GRCm39) |
V756F |
probably damaging |
Het |
Slc43a2 |
G |
A |
11: 75,462,681 (GRCm39) |
G507D |
probably damaging |
Het |
Spata31d1d |
C |
A |
13: 59,873,871 (GRCm39) |
M1221I |
probably benign |
Het |
Srgap1 |
T |
C |
10: 121,628,276 (GRCm39) |
N899D |
probably benign |
Het |
Stag1 |
G |
A |
9: 100,769,473 (GRCm39) |
M529I |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,972,085 (GRCm39) |
D247G |
probably benign |
Het |
Tmppe |
A |
T |
9: 114,234,312 (GRCm39) |
M204L |
probably benign |
Het |
Tpsg1 |
G |
A |
17: 25,588,271 (GRCm39) |
|
probably benign |
Het |
Ttn |
A |
G |
2: 76,628,315 (GRCm39) |
V6288A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,723,444 (GRCm39) |
|
probably benign |
Het |
Twsg1 |
C |
A |
17: 66,244,799 (GRCm39) |
V73F |
probably damaging |
Het |
Vmn2r102 |
A |
G |
17: 19,914,450 (GRCm39) |
T672A |
probably damaging |
Het |
Vps36 |
A |
G |
8: 22,692,320 (GRCm39) |
I66V |
probably benign |
Het |
Xrcc4 |
A |
T |
13: 90,149,048 (GRCm39) |
D157E |
probably benign |
Het |
Zbbx |
T |
A |
3: 75,043,761 (GRCm39) |
Q162L |
probably damaging |
Het |
Zfp560 |
T |
A |
9: 20,259,297 (GRCm39) |
I522L |
probably benign |
Het |
Zscan20 |
T |
C |
4: 128,479,539 (GRCm39) |
N984S |
probably 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 |
R6338:Slf1
|
UTSW |
13 |
77,232,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
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 |
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'- GGCAGGGCTAGTCTATTACATCAG -3'
(R):5'- CTCTAAAGGCTGGAAAGCAGTATG -3'
Sequencing Primer
(F):5'- AGCTACTAAATGACCACTTCTTCTG -3'
(R):5'- GGAAAGCAGTATGATTGAATGAGTTC -3'
|
Posted On |
2018-06-22 |