Incidental Mutation 'R7355:Slf1'
ID |
570903 |
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 |
045441-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7355 (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 77239422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 414
(I414T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
AlphaFold |
Q8R3P9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: I414T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118312 Gene: ENSMUSG00000021597 AA Change: I414T
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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (72/72) |
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
G |
A |
17: 24,486,621 (GRCm39) |
R1469W |
probably benign |
Het |
Acad10 |
G |
T |
5: 121,768,780 (GRCm39) |
Y728* |
probably null |
Het |
Adamts17 |
T |
C |
7: 66,725,052 (GRCm39) |
V160A |
|
Het |
Astn1 |
A |
T |
1: 158,491,846 (GRCm39) |
|
probably null |
Het |
Atp8a2 |
T |
C |
14: 60,282,453 (GRCm39) |
K104E |
possibly damaging |
Het |
Axl |
T |
C |
7: 25,473,531 (GRCm39) |
Y365C |
probably benign |
Het |
Btbd16 |
A |
T |
7: 130,423,173 (GRCm39) |
Y409F |
probably benign |
Het |
Caln1 |
A |
T |
5: 130,443,732 (GRCm39) |
T22S |
probably benign |
Het |
Camk1 |
C |
A |
6: 113,315,307 (GRCm39) |
G164C |
probably damaging |
Het |
Cd96 |
T |
C |
16: 45,861,655 (GRCm39) |
T512A |
possibly damaging |
Het |
Ceacam5 |
A |
G |
7: 17,481,312 (GRCm39) |
D353G |
probably damaging |
Het |
Cep162 |
C |
A |
9: 87,136,008 (GRCm39) |
E12* |
probably null |
Het |
Cfh |
A |
T |
1: 140,064,553 (GRCm39) |
V365E |
probably damaging |
Het |
Chd7 |
A |
G |
4: 8,752,196 (GRCm39) |
H231R |
unknown |
Het |
Cntnap3 |
T |
C |
13: 64,919,776 (GRCm39) |
T694A |
probably benign |
Het |
Colq |
C |
A |
14: 31,267,066 (GRCm39) |
G158V |
probably damaging |
Het |
Ctif |
G |
A |
18: 75,743,756 (GRCm39) |
H139Y |
probably damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,042,144 (GRCm39) |
F934Y |
probably damaging |
Het |
Dclre1a |
T |
A |
19: 56,535,567 (GRCm39) |
T6S |
possibly damaging |
Het |
Dnmbp |
T |
C |
19: 43,890,180 (GRCm39) |
D529G |
probably benign |
Het |
Fat2 |
T |
A |
11: 55,147,377 (GRCm39) |
Q3955L |
probably benign |
Het |
Gjd4 |
A |
G |
18: 9,280,860 (GRCm39) |
S73P |
probably damaging |
Het |
Gm19410 |
C |
A |
8: 36,274,226 (GRCm39) |
Q1460K |
probably benign |
Het |
Golga5 |
A |
T |
12: 102,438,494 (GRCm39) |
I70F |
possibly damaging |
Het |
Gon4l |
T |
A |
3: 88,770,827 (GRCm39) |
I502N |
probably damaging |
Het |
Gtf2ird2 |
C |
G |
5: 134,245,491 (GRCm39) |
A583G |
probably benign |
Het |
Hectd1 |
A |
C |
12: 51,838,081 (GRCm39) |
W694G |
possibly damaging |
Het |
Ifit1bl2 |
C |
T |
19: 34,597,061 (GRCm39) |
G185D |
probably damaging |
Het |
Igfbp6 |
G |
A |
15: 102,056,375 (GRCm39) |
A145T |
probably benign |
Het |
Junb |
C |
T |
8: 85,705,013 (GRCm39) |
A16T |
probably benign |
Het |
Kcnh4 |
C |
T |
11: 100,643,269 (GRCm39) |
V333I |
possibly damaging |
Het |
Ly6c1 |
T |
C |
15: 74,919,256 (GRCm39) |
T45A |
possibly damaging |
Het |
Mon2 |
T |
A |
10: 122,845,421 (GRCm39) |
Q1428L |
probably benign |
Het |
Nfatc2ip |
C |
T |
7: 125,986,783 (GRCm39) |
|
probably null |
Het |
Olfml3 |
C |
A |
3: 103,643,395 (GRCm39) |
G329W |
probably damaging |
Het |
Or10ag56 |
T |
C |
2: 87,139,754 (GRCm39) |
V207A |
probably benign |
Het |
Or10al2 |
A |
G |
17: 37,983,301 (GRCm39) |
Y129C |
probably benign |
Het |
Or6d15 |
T |
A |
6: 116,559,916 (GRCm39) |
|
probably benign |
Het |
Or9g3 |
C |
T |
2: 85,584,023 (GRCm39) |
P106L |
probably benign |
Het |
Pcsk7 |
A |
G |
9: 45,820,672 (GRCm39) |
M35V |
probably benign |
Het |
Phf14 |
A |
G |
6: 12,081,006 (GRCm39) |
N921S |
probably benign |
Het |
Pla2g4e |
G |
A |
2: 120,011,982 (GRCm39) |
S396F |
possibly damaging |
Het |
Ppp4r4 |
A |
T |
12: 103,570,841 (GRCm39) |
K766* |
probably null |
Het |
Pprc1 |
T |
C |
19: 46,053,785 (GRCm39) |
V1105A |
unknown |
Het |
Prdm9 |
T |
G |
17: 15,765,497 (GRCm39) |
N428H |
probably benign |
Het |
Prkcg |
C |
T |
7: 3,372,025 (GRCm39) |
T497I |
possibly damaging |
Het |
Prkcz |
A |
G |
4: 155,441,953 (GRCm39) |
W60R |
probably damaging |
Het |
Ptprn2 |
T |
C |
12: 116,822,571 (GRCm39) |
F217L |
probably benign |
Het |
Pum2 |
T |
A |
12: 8,763,906 (GRCm39) |
Y283* |
probably null |
Het |
Rest |
A |
G |
5: 77,415,875 (GRCm39) |
M30V |
probably benign |
Het |
Rfxank |
C |
T |
8: 70,587,957 (GRCm39) |
R150H |
probably damaging |
Het |
Ros1 |
T |
A |
10: 52,042,175 (GRCm39) |
Q250L |
probably damaging |
Het |
Sgk2 |
A |
G |
2: 162,854,987 (GRCm39) |
D366G |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,076,155 (GRCm39) |
D596G |
probably benign |
Het |
Siglec1 |
A |
T |
2: 130,922,371 (GRCm39) |
L568Q |
probably benign |
Het |
Slain1 |
AT |
ATT |
14: 103,940,012 (GRCm39) |
|
probably null |
Het |
Slc10a5 |
A |
T |
3: 10,399,375 (GRCm39) |
Y428* |
probably null |
Het |
Slc25a54 |
T |
C |
3: 109,010,085 (GRCm39) |
W195R |
probably damaging |
Het |
Snx4 |
C |
T |
16: 33,087,236 (GRCm39) |
P127L |
probably damaging |
Het |
Spdl1 |
A |
T |
11: 34,714,191 (GRCm39) |
L166H |
not run |
Het |
Tapt1 |
C |
T |
5: 44,334,459 (GRCm39) |
V511I |
probably benign |
Het |
Tbata |
A |
G |
10: 61,010,099 (GRCm39) |
|
probably benign |
Het |
Tbx4 |
T |
A |
11: 85,802,835 (GRCm39) |
V264E |
probably damaging |
Het |
Tecta |
A |
T |
9: 42,278,438 (GRCm39) |
Y1023* |
probably null |
Het |
Thop1 |
A |
G |
10: 80,911,465 (GRCm39) |
D117G |
probably damaging |
Het |
Trip12 |
A |
G |
1: 84,792,604 (GRCm39) |
L13P |
probably damaging |
Het |
Tut7 |
T |
C |
13: 59,969,616 (GRCm39) |
N93S |
probably benign |
Het |
Unc13b |
T |
A |
4: 43,237,754 (GRCm39) |
V637E |
probably damaging |
Het |
Vinac1 |
G |
T |
2: 128,879,149 (GRCm39) |
Q926K |
unknown |
Het |
Yipf3 |
T |
A |
17: 46,561,566 (GRCm39) |
M168K |
probably damaging |
Het |
Zfp119a |
A |
T |
17: 56,173,287 (GRCm39) |
C185* |
probably null |
Het |
Zfyve21 |
A |
T |
12: 111,791,485 (GRCm39) |
I157F |
possibly damaging |
Het |
Zfyve26 |
A |
T |
12: 79,286,828 (GRCm39) |
D2253E |
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 |
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 |
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'- AAGTGACCTTGGACATTTTGAGATG -3'
(R):5'- CTACCTGTTGTTTAGTAAGGACGG -3'
Sequencing Primer
(F):5'- TGGACATTTTGAGATGACAATAAGG -3'
(R):5'- ACGGGAGTCATTTGTATTACAGATG -3'
|
Posted On |
2019-09-13 |