Incidental Mutation 'R5792:Slf1'
| ID |
447044 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf1
|
| Ensembl Gene |
ENSMUSG00000021597 |
| Gene Name |
SMC5-SMC6 complex localization factor 1 |
| Synonyms |
Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5792 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77214856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 610
(H610L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: H610L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: H610L
| 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 |
|
| Meta Mutation Damage Score |
0.0899 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
95% (56/59) |
| 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 |
|---|
| 4930433I11Rik |
A |
T |
7: 40,642,945 (GRCm39) |
I296F |
possibly damaging |
Het |
| Adamts19 |
C |
T |
18: 58,970,584 (GRCm39) |
T56M |
possibly damaging |
Het |
| Axdnd1 |
T |
G |
1: 156,169,459 (GRCm39) |
E802D |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,938,048 (GRCm39) |
V2630A |
probably benign |
Het |
| Capn5 |
A |
T |
7: 97,780,402 (GRCm39) |
F323I |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,354,413 (GRCm39) |
D166G |
probably benign |
Het |
| Cdc25b |
A |
G |
2: 131,033,679 (GRCm39) |
E206G |
probably damaging |
Het |
| Cmah |
T |
G |
13: 24,640,898 (GRCm39) |
N382K |
probably benign |
Het |
| Col11a1 |
A |
T |
3: 113,925,242 (GRCm39) |
D25V |
probably damaging |
Het |
| Cyp2d41-ps |
G |
T |
15: 82,663,421 (GRCm39) |
|
noncoding transcript |
Het |
| Cyp3a59 |
A |
G |
5: 146,036,661 (GRCm39) |
K288E |
possibly damaging |
Het |
| Dclre1a |
A |
C |
19: 56,518,022 (GRCm39) |
I1019S |
probably damaging |
Het |
| Fat2 |
G |
T |
11: 55,153,151 (GRCm39) |
A3687D |
possibly damaging |
Het |
| Flg2 |
T |
A |
3: 93,110,804 (GRCm39) |
V944E |
unknown |
Het |
| Galntl5 |
T |
C |
5: 25,403,461 (GRCm39) |
V177A |
possibly damaging |
Het |
| Gm12695 |
T |
C |
4: 96,616,520 (GRCm39) |
T438A |
probably benign |
Het |
| Gm14295 |
A |
T |
2: 176,502,807 (GRCm39) |
N766Y |
probably benign |
Het |
| Gm15433 |
T |
A |
1: 84,941,833 (GRCm39) |
|
noncoding transcript |
Het |
| Gm2431 |
C |
T |
7: 141,812,069 (GRCm39) |
G8E |
unknown |
Het |
| Gm5435 |
T |
A |
12: 82,542,200 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
| Grip1 |
T |
C |
10: 119,821,385 (GRCm39) |
I350T |
probably benign |
Het |
| Guf1 |
T |
A |
5: 69,717,829 (GRCm39) |
F196I |
probably damaging |
Het |
| Kcng4 |
G |
T |
8: 120,353,018 (GRCm39) |
D297E |
probably damaging |
Het |
| Khdrbs2 |
G |
A |
1: 32,511,773 (GRCm39) |
R246Q |
probably damaging |
Het |
| Layn |
T |
C |
9: 50,979,461 (GRCm39) |
E148G |
probably damaging |
Het |
| Lrig3 |
T |
A |
10: 125,845,788 (GRCm39) |
V739E |
probably damaging |
Het |
| Lyg1 |
A |
G |
1: 37,986,348 (GRCm39) |
W129R |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,164 (GRCm39) |
T1567I |
probably damaging |
Het |
| Nus1 |
T |
A |
10: 52,305,352 (GRCm39) |
L12* |
probably null |
Het |
| Odad2 |
T |
C |
18: 7,217,965 (GRCm39) |
N583S |
probably benign |
Het |
| Or1n2 |
A |
G |
2: 36,797,113 (GRCm39) |
I52V |
probably benign |
Het |
| Or6a2 |
A |
T |
7: 106,600,650 (GRCm39) |
V139D |
possibly damaging |
Het |
| Otop1 |
A |
G |
5: 38,455,260 (GRCm39) |
N218S |
probably benign |
Het |
| Pcif1 |
T |
A |
2: 164,727,299 (GRCm39) |
N90K |
probably damaging |
Het |
| Phf2 |
T |
C |
13: 48,973,518 (GRCm39) |
|
probably null |
Het |
| Piezo2 |
T |
A |
18: 63,279,927 (GRCm39) |
I215F |
probably damaging |
Het |
| Pitpnm2 |
G |
T |
5: 124,268,384 (GRCm39) |
C553* |
probably null |
Het |
| Prdm1 |
A |
G |
10: 44,326,224 (GRCm39) |
V115A |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,634,616 (GRCm39) |
D3587G |
probably damaging |
Het |
| Sez6l |
A |
T |
5: 112,569,890 (GRCm39) |
Y883* |
probably null |
Het |
| Sh3rf2 |
A |
C |
18: 42,244,203 (GRCm39) |
H223P |
probably damaging |
Het |
| Slco1a5 |
C |
T |
6: 142,187,839 (GRCm39) |
C500Y |
probably damaging |
Het |
| Syn3 |
T |
C |
10: 86,130,492 (GRCm39) |
*244W |
probably null |
Het |
| Sytl2 |
A |
T |
7: 90,024,897 (GRCm39) |
D295V |
probably damaging |
Het |
| Tnfrsf1a |
T |
A |
6: 125,335,040 (GRCm39) |
C44S |
probably damaging |
Het |
| Ttc6 |
T |
G |
12: 57,719,990 (GRCm39) |
L854V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,596,602 (GRCm39) |
I18358V |
probably benign |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,398 (GRCm39) |
V602A |
probably damaging |
Het |
| Zap70 |
A |
G |
1: 36,818,090 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
T |
C |
14: 55,304,303 (GRCm39) |
E1227G |
possibly damaging |
Het |
| Znhit3 |
G |
A |
11: 84,806,910 (GRCm39) |
|
probably null |
Het |
| Zpbp2 |
A |
G |
11: 98,442,236 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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'- GGAGCATTATAGAATTTCCCATTCC -3'
(R):5'- CAGATTTCCAGCATTGTGGTG -3'
Sequencing Primer
(F):5'- CTGAAGAATAGACCACTTAAAGGTAC -3'
(R):5'- CCAGCATTGTGGTGTATGTAATGAG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation