Incidental Mutation 'R0244:Slf1'
ID |
38005 |
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 |
038482-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0244 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 77274751 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Stop codon
at position 28
(L28*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123982
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
[ENSMUST00000159300]
[ENSMUST00000159462]
[ENSMUST00000162921]
[ENSMUST00000162944]
|
AlphaFold |
Q8R3P9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000151524
AA Change: L28*
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597 AA Change: L28*
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: ENSMUST00000159300
AA Change: L28*
|
SMART Domains |
Protein: ENSMUSP00000124865 Gene: ENSMUSG00000021597 AA Change: L28*
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159462
AA Change: L34*
|
SMART Domains |
Protein: ENSMUSP00000124543 Gene: ENSMUSG00000021597 AA Change: L34*
Domain | Start | End | E-Value | Type |
BRCT
|
8 |
86 |
1.37e-2 |
SMART |
BRCT
|
127 |
205 |
2.12e1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162320
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162921
AA Change: L28*
|
SMART Domains |
Protein: ENSMUSP00000124946 Gene: ENSMUSG00000021597 AA Change: L28*
Domain | Start | End | E-Value | Type |
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000162944
AA Change: L28*
|
SMART Domains |
Protein: ENSMUSP00000123982 Gene: ENSMUSG00000021597 AA Change: L28*
Domain | Start | End | E-Value | Type |
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
Meta Mutation Damage Score |
0.9712 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
Validation Efficiency |
99% (88/89) |
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: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamdec1 |
A |
T |
14: 68,806,172 (GRCm39) |
C434* |
probably null |
Het |
Adprhl1 |
A |
G |
8: 13,292,391 (GRCm39) |
|
probably benign |
Het |
Ago1 |
T |
A |
4: 126,357,499 (GRCm39) |
I59F |
possibly damaging |
Het |
Arel1 |
T |
C |
12: 84,967,467 (GRCm39) |
T786A |
probably damaging |
Het |
Arhgap26 |
A |
G |
18: 39,496,184 (GRCm39) |
K117R |
probably benign |
Het |
Atp6v0b |
C |
T |
4: 117,741,819 (GRCm39) |
G204D |
probably damaging |
Het |
Bace2 |
T |
A |
16: 97,237,973 (GRCm39) |
|
probably null |
Het |
Bltp2 |
T |
A |
11: 78,177,317 (GRCm39) |
|
probably null |
Het |
Camk4 |
G |
A |
18: 33,312,678 (GRCm39) |
|
probably null |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cep152 |
T |
C |
2: 125,406,134 (GRCm39) |
E1466G |
probably benign |
Het |
Ces3b |
T |
C |
8: 105,819,267 (GRCm39) |
F441S |
probably damaging |
Het |
Cfap52 |
T |
C |
11: 67,817,208 (GRCm39) |
T562A |
possibly damaging |
Het |
Clca3a2 |
C |
A |
3: 144,519,659 (GRCm39) |
M238I |
possibly damaging |
Het |
Cntnap5c |
A |
T |
17: 58,409,163 (GRCm39) |
D467V |
probably damaging |
Het |
Col7a1 |
T |
A |
9: 108,801,252 (GRCm39) |
|
probably null |
Het |
Cstf1 |
A |
G |
2: 172,219,630 (GRCm39) |
N247S |
possibly damaging |
Het |
Dffb |
G |
T |
4: 154,059,072 (GRCm39) |
N68K |
probably benign |
Het |
Dnaaf10 |
T |
C |
11: 17,179,851 (GRCm39) |
L284P |
probably damaging |
Het |
Duox2 |
C |
T |
2: 122,122,341 (GRCm39) |
G595S |
probably benign |
Het |
Eftud2 |
T |
A |
11: 102,755,551 (GRCm39) |
I228F |
probably damaging |
Het |
Elmo3 |
T |
C |
8: 106,035,803 (GRCm39) |
V578A |
probably benign |
Het |
Elp2 |
A |
G |
18: 24,764,528 (GRCm39) |
D625G |
possibly damaging |
Het |
Ep300 |
C |
T |
15: 81,524,329 (GRCm39) |
P1386S |
unknown |
Het |
Fam120b |
A |
G |
17: 15,637,899 (GRCm39) |
D610G |
probably damaging |
Het |
Fastk |
A |
T |
5: 24,647,176 (GRCm39) |
|
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,421,391 (GRCm39) |
S252P |
probably damaging |
Het |
Fbxo43 |
T |
C |
15: 36,161,939 (GRCm39) |
K423E |
probably damaging |
Het |
Filip1 |
T |
A |
9: 79,726,744 (GRCm39) |
E625V |
possibly damaging |
Het |
Fkbp9 |
T |
A |
6: 56,833,363 (GRCm39) |
Y283* |
probably null |
Het |
Gigyf2 |
T |
A |
1: 87,306,737 (GRCm39) |
D142E |
possibly damaging |
Het |
Gm10142 |
T |
C |
10: 77,551,848 (GRCm39) |
|
probably null |
Het |
Golga5 |
T |
C |
12: 102,442,447 (GRCm39) |
V262A |
probably benign |
Het |
Hectd4 |
T |
C |
5: 121,467,668 (GRCm39) |
V2539A |
probably benign |
Het |
Ica1 |
G |
T |
6: 8,653,632 (GRCm39) |
S335* |
probably null |
Het |
Itga1 |
A |
T |
13: 115,143,433 (GRCm39) |
|
probably benign |
Het |
Itgb1 |
T |
C |
8: 129,444,166 (GRCm39) |
|
probably benign |
Het |
Itpr1 |
G |
A |
6: 108,450,550 (GRCm39) |
V1960I |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kprp |
C |
T |
3: 92,732,718 (GRCm39) |
V111I |
probably benign |
Het |
Lamc3 |
T |
C |
2: 31,830,733 (GRCm39) |
I1490T |
probably damaging |
Het |
Lcp1 |
A |
T |
14: 75,464,441 (GRCm39) |
D554V |
possibly damaging |
Het |
Lgi3 |
A |
G |
14: 70,772,138 (GRCm39) |
T228A |
probably benign |
Het |
Lipa |
A |
T |
19: 34,478,941 (GRCm39) |
F260I |
probably damaging |
Het |
Lrriq1 |
C |
T |
10: 103,051,634 (GRCm39) |
E373K |
probably damaging |
Het |
Map6 |
G |
A |
7: 98,986,043 (GRCm39) |
G649D |
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,044,196 (GRCm39) |
|
probably null |
Het |
Mical3 |
A |
T |
6: 120,934,683 (GRCm39) |
S1799T |
probably benign |
Het |
Mmp23 |
T |
A |
4: 155,736,589 (GRCm39) |
T151S |
probably damaging |
Het |
Myo1d |
T |
A |
11: 80,565,534 (GRCm39) |
N401I |
probably damaging |
Het |
Myo9b |
T |
A |
8: 71,774,457 (GRCm39) |
S323T |
probably damaging |
Het |
Nbn |
G |
T |
4: 15,979,353 (GRCm39) |
W446L |
probably benign |
Het |
Nedd1 |
A |
T |
10: 92,552,127 (GRCm39) |
|
probably benign |
Het |
Ngef |
C |
A |
1: 87,415,684 (GRCm39) |
|
probably benign |
Het |
Nup153 |
A |
T |
13: 46,847,412 (GRCm39) |
N672K |
probably benign |
Het |
Or10d1b |
T |
A |
9: 39,613,469 (GRCm39) |
I199F |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or4e2 |
T |
C |
14: 52,687,969 (GRCm39) |
V33A |
probably benign |
Het |
Or4f57 |
T |
C |
2: 111,791,361 (GRCm39) |
N19S |
probably benign |
Het |
Pakap |
T |
G |
4: 57,710,177 (GRCm39) |
V374G |
possibly damaging |
Het |
Pdlim3 |
C |
A |
8: 46,361,497 (GRCm39) |
|
probably benign |
Het |
Pmfbp1 |
G |
A |
8: 110,268,305 (GRCm39) |
E951K |
probably damaging |
Het |
Pop1 |
T |
A |
15: 34,516,037 (GRCm39) |
C548* |
probably null |
Het |
Ppp1r16a |
C |
T |
15: 76,574,999 (GRCm39) |
|
probably benign |
Het |
Ptpdc1 |
A |
T |
13: 48,739,456 (GRCm39) |
N658K |
probably benign |
Het |
Ptprk |
A |
C |
10: 28,082,221 (GRCm39) |
E63D |
possibly damaging |
Het |
Rtf1 |
C |
T |
2: 119,563,358 (GRCm39) |
R712W |
probably damaging |
Het |
Samd7 |
A |
C |
3: 30,805,222 (GRCm39) |
T2P |
probably benign |
Het |
Sft2d1 |
A |
G |
17: 8,538,254 (GRCm39) |
T52A |
probably benign |
Het |
Slc25a26 |
A |
G |
6: 94,487,814 (GRCm39) |
H91R |
probably damaging |
Het |
Slc5a4a |
A |
G |
10: 76,024,986 (GRCm39) |
E621G |
possibly damaging |
Het |
Snapc1 |
C |
T |
12: 74,021,806 (GRCm39) |
R81C |
probably damaging |
Het |
Sorcs2 |
G |
A |
5: 36,554,897 (GRCm39) |
|
probably benign |
Het |
Tacc2 |
T |
C |
7: 130,353,555 (GRCm39) |
|
probably benign |
Het |
Tas2r140 |
A |
G |
6: 133,032,290 (GRCm39) |
V156A |
possibly damaging |
Het |
Terf2ip |
C |
A |
8: 112,744,796 (GRCm39) |
T371K |
possibly damaging |
Het |
Tifa |
C |
T |
3: 127,590,537 (GRCm39) |
L103F |
probably damaging |
Het |
Tmco3 |
A |
G |
8: 13,342,037 (GRCm39) |
N104D |
probably damaging |
Het |
Tmem259 |
T |
A |
10: 79,814,797 (GRCm39) |
D240V |
probably damaging |
Het |
Trim60 |
C |
T |
8: 65,453,700 (GRCm39) |
R183H |
probably benign |
Het |
Trps1 |
T |
C |
15: 50,528,139 (GRCm39) |
N725D |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,645,150 (GRCm39) |
V12902M |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Unc79 |
A |
G |
12: 103,079,150 (GRCm39) |
K1772E |
probably damaging |
Het |
Vwde |
C |
T |
6: 13,193,125 (GRCm39) |
V405I |
probably benign |
Het |
Wdr18 |
T |
A |
10: 79,802,242 (GRCm39) |
D290E |
probably damaging |
Het |
Wwc2 |
G |
A |
8: 48,353,756 (GRCm39) |
A126V |
probably benign |
Het |
Zfp882 |
A |
T |
8: 72,667,367 (GRCm39) |
I105F |
possibly damaging |
Het |
Zfp942 |
A |
T |
17: 22,147,553 (GRCm39) |
C359S |
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 |
|
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 |
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'- TTTCTGAAGGGAAGAACCCACATCAAG -3'
(R):5'- ACTGGAGGGTTTCAATGGTGAAACAAC -3'
Sequencing Primer
(F):5'- CCACATCAAGCAATATTACTACAGAG -3'
(R):5'- ATGGTTTTAGTTTCATTTTAGTGCTC -3'
|
Posted On |
2013-05-23 |