Incidental Mutation 'R1646:Slf1'
ID |
173904 |
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 |
039682-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1646 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 77214767 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 640
(R640*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
AlphaFold |
Q8R3P9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000151524
AA Change: R640*
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597 AA Change: R640*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.8%
|
Validation Efficiency |
96% (69/72) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akna |
T |
G |
4: 63,302,129 (GRCm39) |
I581L |
probably benign |
Het |
Cacnb4 |
A |
G |
2: 52,364,912 (GRCm39) |
I117T |
possibly damaging |
Het |
Capn1 |
A |
T |
19: 6,047,760 (GRCm39) |
F434L |
probably benign |
Het |
Cbs |
T |
C |
17: 31,832,169 (GRCm39) |
T547A |
probably benign |
Het |
Col6a5 |
A |
T |
9: 105,739,948 (GRCm39) |
L2557* |
probably null |
Het |
Dach1 |
A |
G |
14: 98,406,550 (GRCm39) |
S66P |
unknown |
Het |
Ddx31 |
T |
C |
2: 28,782,532 (GRCm39) |
V625A |
probably benign |
Het |
Dmxl1 |
T |
G |
18: 50,095,328 (GRCm39) |
V2969G |
probably damaging |
Het |
Eapp |
T |
A |
12: 54,732,745 (GRCm39) |
K122* |
probably null |
Het |
Elapor1 |
A |
T |
3: 108,370,306 (GRCm39) |
S751T |
probably damaging |
Het |
Epb41l5 |
G |
T |
1: 119,477,752 (GRCm39) |
|
probably benign |
Het |
Fat1 |
T |
C |
8: 45,471,079 (GRCm39) |
S1628P |
probably damaging |
Het |
Fgfr2 |
T |
A |
7: 129,844,374 (GRCm39) |
E37V |
probably damaging |
Het |
Fgfr4 |
A |
T |
13: 55,313,777 (GRCm39) |
N529Y |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,808,861 (GRCm39) |
T1727S |
probably benign |
Het |
Gak |
A |
T |
5: 108,750,720 (GRCm39) |
S397T |
probably damaging |
Het |
Gm6040 |
T |
A |
8: 21,407,113 (GRCm39) |
I36F |
possibly damaging |
Het |
Grhl1 |
A |
G |
12: 24,661,860 (GRCm39) |
D513G |
possibly damaging |
Het |
Gstt1 |
T |
A |
10: 75,619,940 (GRCm39) |
D219V |
possibly damaging |
Het |
Hcfc2 |
T |
G |
10: 82,536,861 (GRCm39) |
V91G |
probably damaging |
Het |
Hells |
A |
T |
19: 38,956,227 (GRCm39) |
I808L |
probably benign |
Het |
Icmt |
T |
A |
4: 152,384,172 (GRCm39) |
V110E |
possibly damaging |
Het |
Ilrun |
A |
G |
17: 28,012,934 (GRCm39) |
S88P |
probably damaging |
Het |
Iqca1 |
C |
T |
1: 90,067,760 (GRCm39) |
V164M |
probably damaging |
Het |
Klri1 |
G |
A |
6: 129,680,299 (GRCm39) |
P119S |
probably benign |
Het |
Krt71 |
C |
A |
15: 101,647,199 (GRCm39) |
|
probably null |
Het |
Lpin1 |
A |
G |
12: 16,623,659 (GRCm39) |
|
probably null |
Het |
Macir |
A |
T |
1: 97,573,531 (GRCm39) |
I178N |
probably damaging |
Het |
Metap2 |
T |
C |
10: 93,706,059 (GRCm39) |
H241R |
probably damaging |
Het |
Myh15 |
A |
G |
16: 49,015,931 (GRCm39) |
Y1869C |
probably damaging |
Het |
Myo1h |
G |
A |
5: 114,455,693 (GRCm39) |
G59E |
possibly damaging |
Het |
Ncam2 |
T |
G |
16: 81,262,594 (GRCm39) |
|
probably benign |
Het |
Npat |
T |
C |
9: 53,466,434 (GRCm39) |
V241A |
probably benign |
Het |
Npbwr1 |
C |
A |
1: 5,987,473 (GRCm39) |
V14L |
probably benign |
Het |
Nup37 |
T |
A |
10: 88,014,096 (GRCm39) |
V323E |
possibly damaging |
Het |
Or11g27 |
A |
T |
14: 50,771,040 (GRCm39) |
Q57L |
probably benign |
Het |
Or5m9b |
A |
G |
2: 85,905,960 (GRCm39) |
N292S |
probably damaging |
Het |
Or5p59 |
C |
T |
7: 107,702,798 (GRCm39) |
T94I |
probably benign |
Het |
Or7a35 |
C |
A |
10: 78,853,340 (GRCm39) |
Y61* |
probably null |
Het |
Pdlim4 |
A |
T |
11: 53,947,080 (GRCm39) |
L132Q |
possibly damaging |
Het |
Ptcd3 |
T |
C |
6: 71,875,379 (GRCm39) |
D201G |
probably benign |
Het |
Ptk7 |
A |
T |
17: 46,897,223 (GRCm39) |
F370I |
probably benign |
Het |
Pus7l |
T |
C |
15: 94,431,517 (GRCm39) |
N371D |
probably benign |
Het |
Pzp |
G |
A |
6: 128,480,518 (GRCm39) |
A589V |
probably benign |
Het |
Rasef |
T |
A |
4: 73,652,786 (GRCm39) |
R572W |
probably damaging |
Het |
Reep5 |
T |
C |
18: 34,482,712 (GRCm39) |
T166A |
probably benign |
Het |
Rhov |
A |
G |
2: 119,101,501 (GRCm39) |
V35A |
probably damaging |
Het |
Ripk4 |
C |
T |
16: 97,545,097 (GRCm39) |
G517R |
probably damaging |
Het |
Rnasel |
A |
G |
1: 153,630,800 (GRCm39) |
T439A |
probably damaging |
Het |
Slamf9 |
A |
G |
1: 172,304,907 (GRCm39) |
T174A |
probably benign |
Het |
Slc12a9 |
A |
G |
5: 137,321,411 (GRCm39) |
L414P |
probably damaging |
Het |
Slfn8 |
G |
T |
11: 82,907,712 (GRCm39) |
P277Q |
probably damaging |
Het |
Stpg2 |
T |
A |
3: 139,125,463 (GRCm39) |
|
probably benign |
Het |
Tm9sf3 |
A |
C |
19: 41,211,618 (GRCm39) |
N408K |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,758,433 (GRCm39) |
V2049A |
possibly damaging |
Het |
Ttn |
A |
T |
2: 76,645,077 (GRCm39) |
I11180N |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,148,018 (GRCm39) |
C982R |
probably damaging |
Het |
Usp36 |
C |
T |
11: 118,164,392 (GRCm39) |
V207M |
probably damaging |
Het |
Uvrag |
T |
C |
7: 98,767,431 (GRCm39) |
T67A |
probably damaging |
Het |
Vasp |
G |
A |
7: 18,994,903 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
T |
C |
17: 23,578,513 (GRCm39) |
F662S |
probably damaging |
Het |
Vmn2r54 |
A |
T |
7: 12,366,434 (GRCm39) |
C167S |
probably damaging |
Het |
Vmn2r71 |
C |
A |
7: 85,270,476 (GRCm39) |
N547K |
probably damaging |
Het |
Wasf2 |
A |
G |
4: 132,903,902 (GRCm39) |
I37V |
probably benign |
Het |
Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
Zfp317 |
A |
G |
9: 19,558,608 (GRCm39) |
Y274C |
probably damaging |
Het |
Zhx3 |
T |
C |
2: 160,623,195 (GRCm39) |
Y324C |
probably damaging |
Het |
Zzef1 |
T |
C |
11: 72,754,862 (GRCm39) |
|
probably null |
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 |
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 |
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'- CCAACCCTAACACTAAATGGACTTGGAC -3'
(R):5'- TCAGATGACAGATTTCCAGCATTGTGG -3'
Sequencing Primer
(F):5'- agacatacacacatatgcacatac -3'
(R):5'- GTCATTGAACTCTCAAAATGGTTG -3'
|
Posted On |
2014-04-24 |