Incidental Mutation 'R5269:Slf1'
| ID |
400109 |
| 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 |
042834-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5269 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77252700 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 274
(S274T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
[ENSMUST00000159300]
[ENSMUST00000159462]
[ENSMUST00000162921]
[ENSMUST00000162944]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: S274T
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: S274T
| 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 benign
Transcript: ENSMUST00000159300
AA Change: S274T
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: S274T
| 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 benign
Transcript: ENSMUST00000159462
|
| SMART Domains |
Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
| 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 benign
Transcript: ENSMUST00000162921
|
| SMART Domains |
Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162944
|
| SMART Domains |
Protein: ENSMUSP00000123982
Gene: ENSMUSG00000021597
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (71/71) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
C |
17: 24,595,717 (GRCm39) |
S357P |
possibly damaging |
Het |
| Adam39 |
A |
G |
8: 41,279,018 (GRCm39) |
I470V |
probably benign |
Het |
| Agrn |
A |
T |
4: 156,253,447 (GRCm39) |
C1708S |
probably benign |
Het |
| Agtpbp1 |
A |
G |
13: 59,621,557 (GRCm39) |
I42T |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,186,626 (GRCm39) |
C1347R |
probably damaging |
Het |
| Antxr1 |
A |
G |
6: 87,157,165 (GRCm39) |
L452P |
probably damaging |
Het |
| Arhgef33 |
T |
A |
17: 80,677,704 (GRCm39) |
V417D |
probably damaging |
Het |
| Brca2 |
A |
G |
5: 150,462,688 (GRCm39) |
I817M |
possibly damaging |
Het |
| Casp4 |
A |
T |
9: 5,321,521 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
T |
C |
1: 104,861,882 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Cdr2 |
C |
T |
7: 120,557,557 (GRCm39) |
V323M |
possibly damaging |
Het |
| Cebpa |
G |
A |
7: 34,819,283 (GRCm39) |
R147H |
probably benign |
Het |
| Cetn4 |
C |
A |
3: 37,364,118 (GRCm39) |
E31* |
probably null |
Het |
| Cobll1 |
G |
A |
2: 64,964,115 (GRCm39) |
Q189* |
probably null |
Het |
| Colec12 |
A |
G |
18: 9,846,825 (GRCm39) |
T74A |
possibly damaging |
Het |
| Crisp4 |
A |
G |
1: 18,198,934 (GRCm39) |
S124P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,178 (GRCm39) |
D55E |
probably damaging |
Het |
| Elmo1 |
C |
A |
13: 20,633,656 (GRCm39) |
N439K |
probably benign |
Het |
| Fabp12 |
T |
C |
3: 10,315,167 (GRCm39) |
N60S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,178,704 (GRCm39) |
H1452L |
probably benign |
Het |
| Flacc1 |
A |
G |
1: 58,730,919 (GRCm39) |
S46P |
possibly damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,712 (GRCm39) |
V350A |
possibly damaging |
Het |
| Ganab |
T |
C |
19: 8,889,301 (GRCm39) |
F626S |
probably damaging |
Het |
| Ghr |
T |
C |
15: 3,349,561 (GRCm39) |
Y539C |
probably benign |
Het |
| Gm6871 |
T |
C |
7: 41,197,525 (GRCm39) |
T112A |
probably damaging |
Het |
| Gm7133 |
T |
A |
1: 97,110,848 (GRCm39) |
|
noncoding transcript |
Het |
| Gon4l |
A |
C |
3: 88,802,835 (GRCm39) |
I1149L |
probably benign |
Het |
| Greb1l |
G |
A |
18: 10,511,409 (GRCm39) |
D45N |
probably benign |
Het |
| H2-K2 |
A |
G |
17: 34,215,989 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
T |
7: 55,818,618 (GRCm39) |
R2770* |
probably null |
Het |
| Insyn2b |
G |
A |
11: 34,352,788 (GRCm39) |
E277K |
probably damaging |
Het |
| Itsn2 |
A |
G |
12: 4,683,553 (GRCm39) |
|
probably benign |
Het |
| Klb |
A |
G |
5: 65,506,140 (GRCm39) |
D129G |
probably damaging |
Het |
| Klf1 |
A |
G |
8: 85,629,969 (GRCm39) |
I265V |
probably benign |
Het |
| Ltbr |
G |
A |
6: 125,289,757 (GRCm39) |
R146W |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,957 (GRCm39) |
E607G |
probably benign |
Het |
| Melk |
C |
T |
4: 44,363,730 (GRCm39) |
T592M |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,639 (GRCm39) |
L457P |
probably damaging |
Het |
| Mrpl21 |
T |
A |
19: 3,337,012 (GRCm39) |
C128S |
probably damaging |
Het |
| Or51f23 |
T |
C |
7: 102,453,327 (GRCm39) |
V214A |
probably benign |
Het |
| Paqr4 |
G |
T |
17: 23,957,187 (GRCm39) |
H105Q |
probably damaging |
Het |
| Pcdhga10 |
A |
G |
18: 37,881,747 (GRCm39) |
I503V |
probably benign |
Het |
| Pds5a |
T |
C |
5: 65,821,271 (GRCm39) |
N151S |
probably damaging |
Het |
| Pif1 |
A |
G |
9: 65,499,111 (GRCm39) |
T444A |
possibly damaging |
Het |
| Ppp2r3d |
T |
C |
9: 101,031,064 (GRCm39) |
R851G |
probably damaging |
Het |
| R3hdm4 |
C |
T |
10: 79,748,292 (GRCm39) |
E162K |
possibly damaging |
Het |
| Ros1 |
T |
G |
10: 51,927,104 (GRCm39) |
Q2172P |
probably damaging |
Het |
| Rpe65 |
A |
G |
3: 159,309,984 (GRCm39) |
T86A |
probably benign |
Het |
| Rpl18a |
G |
A |
8: 71,348,932 (GRCm39) |
R15C |
possibly damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,108,684 (GRCm39) |
K258R |
probably benign |
Het |
| Ska3 |
T |
A |
14: 58,059,573 (GRCm39) |
E84V |
possibly damaging |
Het |
| Slc25a40 |
T |
A |
5: 8,497,409 (GRCm39) |
|
probably null |
Het |
| Spata21 |
A |
T |
4: 140,830,332 (GRCm39) |
Q267H |
probably damaging |
Het |
| Strbp |
A |
T |
2: 37,517,455 (GRCm39) |
W207R |
possibly damaging |
Het |
| Taf6l |
T |
C |
19: 8,752,326 (GRCm39) |
E454G |
probably damaging |
Het |
| Tcam1 |
C |
A |
11: 106,176,353 (GRCm39) |
L360I |
probably benign |
Het |
| Tnxb |
G |
A |
17: 34,922,582 (GRCm39) |
R2465H |
possibly damaging |
Het |
| Trim66 |
T |
A |
7: 109,056,797 (GRCm39) |
Y1120F |
probably benign |
Het |
| Trp53 |
T |
A |
11: 69,480,031 (GRCm39) |
M243K |
probably damaging |
Het |
| Ttl |
T |
A |
2: 128,910,831 (GRCm39) |
C72S |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,539,240 (GRCm39) |
V34582A |
probably benign |
Het |
| Uqcrh |
T |
C |
4: 115,927,101 (GRCm39) |
T31A |
possibly damaging |
Het |
| Usp40 |
A |
G |
1: 87,923,504 (GRCm39) |
C256R |
probably benign |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,839 (GRCm39) |
E232G |
probably benign |
Het |
| Wdr72 |
A |
T |
9: 74,064,653 (GRCm39) |
I562F |
probably damaging |
Het |
| Wnt4 |
A |
G |
4: 137,005,061 (GRCm39) |
N24S |
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 |
|
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'- CTTTCCCAGGCAAAATGAGTTC -3'
(R):5'- ACGGAAGTTACCACAGTTGATTCTG -3'
Sequencing Primer
(F):5'- CCCAGGCAAAATGAGTTCATAAATAG -3'
(R):5'- GGCAAACTAAAGCATTTGTTTTCTGG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation