Incidental Mutation 'R5445:Slf1'
ID |
427424 |
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 |
043010-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5445 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 77239323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 447
(I447N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
AlphaFold |
Q8R3P9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: I447N
PolyPhen 2
Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597 AA Change: I447N
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: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
A |
T |
17: 84,978,557 (GRCm39) |
D300E |
probably damaging |
Het |
Apbb1ip |
T |
C |
2: 22,725,960 (GRCm39) |
V244A |
possibly damaging |
Het |
Arhgap32 |
T |
C |
9: 32,159,678 (GRCm39) |
S232P |
probably benign |
Het |
Atf7ip |
G |
A |
6: 136,564,255 (GRCm39) |
V833M |
probably damaging |
Het |
Casp7 |
A |
G |
19: 56,421,770 (GRCm39) |
|
probably null |
Het |
Ccdc9b |
T |
C |
2: 118,590,067 (GRCm39) |
D259G |
probably damaging |
Het |
Celsr2 |
T |
A |
3: 108,299,974 (GRCm39) |
E2911D |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,770,469 (GRCm39) |
D1807G |
probably benign |
Het |
Cfap251 |
C |
T |
5: 123,425,240 (GRCm39) |
T294M |
probably damaging |
Het |
Chrd |
A |
G |
16: 20,557,660 (GRCm39) |
T753A |
possibly damaging |
Het |
Clasp2 |
A |
G |
9: 113,733,014 (GRCm39) |
D971G |
probably damaging |
Het |
Cnnm2 |
A |
G |
19: 46,865,727 (GRCm39) |
T772A |
possibly damaging |
Het |
Cntn1 |
A |
T |
15: 92,192,958 (GRCm39) |
N687Y |
probably damaging |
Het |
Col6a3 |
G |
A |
1: 90,709,761 (GRCm39) |
R1812* |
probably null |
Het |
Dsc2 |
T |
C |
18: 20,168,360 (GRCm39) |
I700V |
possibly damaging |
Het |
Flt3 |
G |
A |
5: 147,291,905 (GRCm39) |
Q540* |
probably null |
Het |
Fmo4 |
T |
A |
1: 162,632,842 (GRCm39) |
I170F |
probably benign |
Het |
Fra10ac1 |
T |
A |
19: 38,207,910 (GRCm39) |
D72V |
possibly damaging |
Het |
Garin2 |
G |
A |
12: 78,761,890 (GRCm39) |
E185K |
probably damaging |
Het |
Gemin6 |
T |
G |
17: 80,535,178 (GRCm39) |
V46G |
probably damaging |
Het |
Gm2381 |
T |
G |
7: 42,469,425 (GRCm39) |
H233P |
probably damaging |
Het |
Gm5148 |
T |
A |
3: 37,768,995 (GRCm39) |
Q75L |
probably damaging |
Het |
Gm8369 |
T |
C |
19: 11,482,170 (GRCm39) |
V27A |
possibly damaging |
Het |
Gpr157 |
T |
C |
4: 150,186,825 (GRCm39) |
S318P |
probably benign |
Het |
Hectd4 |
G |
A |
5: 121,404,337 (GRCm39) |
V405M |
probably benign |
Het |
Hemgn |
T |
C |
4: 46,400,738 (GRCm39) |
R41G |
probably benign |
Het |
Hhipl1 |
T |
A |
12: 108,294,467 (GRCm39) |
L791Q |
probably damaging |
Het |
Hjurp |
T |
G |
1: 88,194,038 (GRCm39) |
K290T |
probably benign |
Het |
Ifi207 |
T |
C |
1: 173,555,363 (GRCm39) |
E773G |
probably damaging |
Het |
Kcnh6 |
T |
C |
11: 105,914,685 (GRCm39) |
Y697H |
probably damaging |
Het |
Lonrf2 |
T |
C |
1: 38,846,234 (GRCm39) |
T313A |
probably benign |
Het |
Lrba |
G |
T |
3: 86,275,902 (GRCm39) |
V1757L |
probably benign |
Het |
Lrrc24 |
T |
C |
15: 76,600,306 (GRCm39) |
T278A |
probably benign |
Het |
Ltbp2 |
T |
C |
12: 84,856,428 (GRCm39) |
I679V |
probably null |
Het |
Mapk4 |
G |
T |
18: 74,064,073 (GRCm39) |
T383K |
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Mia3 |
A |
G |
1: 183,117,471 (GRCm39) |
V208A |
probably benign |
Het |
Myo15a |
C |
A |
11: 60,411,603 (GRCm39) |
C3234* |
probably null |
Het |
Nlrp1b |
G |
T |
11: 71,108,701 (GRCm39) |
Q267K |
probably benign |
Het |
Nphp3 |
A |
G |
9: 103,881,922 (GRCm39) |
K37E |
probably damaging |
Het |
Nwd2 |
T |
C |
5: 63,962,681 (GRCm39) |
M755T |
probably damaging |
Het |
Or10u4 |
T |
A |
10: 129,802,158 (GRCm39) |
H137L |
probably benign |
Het |
Or52ac1 |
A |
G |
7: 104,246,028 (GRCm39) |
F120S |
probably damaging |
Het |
Or5p58 |
A |
G |
7: 107,693,949 (GRCm39) |
V276A |
possibly damaging |
Het |
Pdlim5 |
C |
T |
3: 142,058,495 (GRCm39) |
R83K |
probably null |
Het |
Plekha5 |
A |
T |
6: 140,498,459 (GRCm39) |
R173* |
probably null |
Het |
Pramel25 |
T |
A |
4: 143,521,707 (GRCm39) |
V441E |
possibly damaging |
Het |
Rbms3 |
T |
A |
9: 117,080,853 (GRCm39) |
D6V |
possibly damaging |
Het |
Rhoq |
A |
T |
17: 87,271,755 (GRCm39) |
Y57F |
probably benign |
Het |
Rrm1 |
A |
T |
7: 102,100,230 (GRCm39) |
T204S |
possibly damaging |
Het |
Smarcc2 |
T |
A |
10: 128,323,943 (GRCm39) |
|
probably benign |
Het |
Spdye4c |
C |
T |
2: 128,438,484 (GRCm39) |
Q281* |
probably null |
Het |
Tert |
T |
A |
13: 73,792,403 (GRCm39) |
M890K |
probably benign |
Het |
Tln1 |
C |
A |
4: 43,543,905 (GRCm39) |
R1198L |
probably benign |
Het |
Tmco4 |
A |
G |
4: 138,748,178 (GRCm39) |
M253V |
probably damaging |
Het |
Usp19 |
G |
T |
9: 108,375,119 (GRCm39) |
V782F |
possibly damaging |
Het |
Usp33 |
T |
A |
3: 152,080,260 (GRCm39) |
S464T |
probably damaging |
Het |
Usp47 |
A |
T |
7: 111,673,928 (GRCm39) |
Y397F |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,466 (GRCm39) |
T144A |
probably benign |
Het |
Vmn2r90 |
A |
T |
17: 17,954,386 (GRCm39) |
H850L |
probably benign |
Het |
Zfhx3 |
A |
T |
8: 109,682,842 (GRCm39) |
Q3427L |
unknown |
Het |
Zfp236 |
G |
T |
18: 82,700,281 (GRCm39) |
Q63K |
probably benign |
Het |
Zfp7 |
T |
A |
15: 76,775,054 (GRCm39) |
C365* |
probably null |
Het |
Zfp786 |
T |
C |
6: 47,796,619 (GRCm39) |
E773G |
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 |
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'- TGACCTTGGACATTTTGAGATGAC -3'
(R):5'- ACGGGAGTCATTTGTATTACAGATG -3'
Sequencing Primer
(F):5'- TGGACATTTTGAGATGACAATAAGG -3'
(R):5'- AGGGAATGAGAGTCTTTTATTTGCTC -3'
|
Posted On |
2016-09-01 |