Incidental Mutation 'R6109:Slf1'
| ID |
484738 |
| 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 |
044259-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6109 (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 T
at 77274799 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 12
(M12K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
[ENSMUST00000159300]
[ENSMUST00000159462]
[ENSMUST00000162921]
[ENSMUST00000162944]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: M12K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: M12K
| 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 damaging
Transcript: ENSMUST00000159300
AA Change: M12K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: M12K
| 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 damaging
Transcript: ENSMUST00000159462
AA Change: M18K
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
AA Change: M18K
| 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 |
possibly damaging
Transcript: ENSMUST00000162921
AA Change: M12K
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597
AA Change: M12K
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162944
AA Change: M12K
PolyPhen 2
Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000123982
Gene: ENSMUSG00000021597
AA Change: M12K
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (64/64) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
T |
C |
17: 46,621,303 (GRCm39) |
Y950C |
probably benign |
Het |
| Acadm |
A |
G |
3: 153,647,580 (GRCm39) |
C20R |
probably damaging |
Het |
| Agtpbp1 |
G |
T |
13: 59,621,560 (GRCm39) |
T984K |
probably damaging |
Het |
| Agxt2 |
C |
T |
15: 10,377,508 (GRCm39) |
T136I |
probably damaging |
Het |
| Ankrd36 |
C |
A |
11: 5,578,941 (GRCm39) |
N68K |
probably damaging |
Het |
| Ap3b2 |
T |
A |
7: 81,143,340 (GRCm39) |
D10V |
possibly damaging |
Het |
| Apcdd1 |
A |
T |
18: 63,070,437 (GRCm39) |
I235F |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,171,407 (GRCm39) |
W1396R |
probably damaging |
Het |
| Ascc3 |
A |
G |
10: 50,525,343 (GRCm39) |
T513A |
probably benign |
Het |
| Aym1 |
C |
T |
5: 113,505,407 (GRCm39) |
L9F |
unknown |
Het |
| Btnl10 |
C |
A |
11: 58,811,130 (GRCm39) |
S151Y |
probably damaging |
Het |
| Camk2a |
A |
T |
18: 61,076,306 (GRCm39) |
K95* |
probably null |
Het |
| Ccdc40 |
T |
C |
11: 119,122,804 (GRCm39) |
V202A |
probably benign |
Het |
| Cd200r3 |
T |
A |
16: 44,774,045 (GRCm39) |
D152E |
probably benign |
Het |
| Cd2bp2 |
C |
T |
7: 126,793,987 (GRCm39) |
D101N |
probably damaging |
Het |
| Cdh20 |
G |
A |
1: 104,921,739 (GRCm39) |
D679N |
probably damaging |
Het |
| Clpx |
C |
T |
9: 65,207,234 (GRCm39) |
T44I |
probably benign |
Het |
| Cnnm4 |
T |
G |
1: 36,537,560 (GRCm39) |
V541G |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,249,874 (GRCm39) |
I1035V |
possibly damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,147 (GRCm39) |
S62G |
probably benign |
Het |
| Dlk2 |
T |
A |
17: 46,612,623 (GRCm39) |
Y109N |
probably damaging |
Het |
| Ebf3 |
C |
T |
7: 136,807,955 (GRCm39) |
V363M |
probably damaging |
Het |
| Farsb |
A |
G |
1: 78,439,907 (GRCm39) |
|
probably null |
Het |
| Fastkd3 |
C |
T |
13: 68,738,337 (GRCm39) |
Q32* |
probably null |
Het |
| Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
| Foxl3 |
C |
A |
5: 138,805,850 (GRCm39) |
Q6K |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,022,663 (GRCm39) |
F166L |
probably benign |
Het |
| Gm11271 |
G |
T |
13: 21,565,309 (GRCm39) |
|
noncoding transcript |
Het |
| Gnat2 |
T |
A |
3: 108,007,451 (GRCm39) |
Y290N |
probably damaging |
Het |
| H2-D1 |
A |
T |
17: 35,482,913 (GRCm39) |
I148F |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,385 (GRCm39) |
D83G |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 921,501 (GRCm39) |
W500R |
probably damaging |
Het |
| Kel |
A |
T |
6: 41,665,796 (GRCm39) |
F489I |
probably benign |
Het |
| Kmo |
C |
A |
1: 175,465,474 (GRCm39) |
A76E |
possibly damaging |
Het |
| Krt32 |
T |
C |
11: 99,978,791 (GRCm39) |
T88A |
probably benign |
Het |
| Lce3b |
A |
G |
3: 92,840,994 (GRCm39) |
T30A |
unknown |
Het |
| Lcn11 |
A |
G |
2: 25,669,308 (GRCm39) |
H155R |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,889,481 (GRCm39) |
I129N |
possibly damaging |
Het |
| Meiob |
A |
G |
17: 25,031,993 (GRCm39) |
K3E |
probably benign |
Het |
| Mitf |
C |
T |
6: 97,973,429 (GRCm39) |
T229M |
probably damaging |
Het |
| Ms4a20 |
T |
C |
19: 11,079,276 (GRCm39) |
M131V |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,566,655 (GRCm39) |
I1955V |
unknown |
Het |
| Naip1 |
A |
G |
13: 100,563,690 (GRCm39) |
C492R |
probably damaging |
Het |
| Ncor2 |
C |
T |
5: 125,132,910 (GRCm39) |
A26T |
probably damaging |
Het |
| Ngfr |
T |
G |
11: 95,468,883 (GRCm39) |
D165A |
probably damaging |
Het |
| Nobox |
A |
T |
6: 43,282,103 (GRCm39) |
S323R |
probably damaging |
Het |
| Or51ac3 |
T |
C |
7: 103,214,346 (GRCm39) |
I47V |
probably benign |
Het |
| Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
| Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
| Or8g23 |
A |
G |
9: 38,971,492 (GRCm39) |
S157P |
probably benign |
Het |
| Pcdhb1 |
G |
T |
18: 37,398,306 (GRCm39) |
V86F |
possibly damaging |
Het |
| Pdk1 |
A |
G |
2: 71,713,850 (GRCm39) |
E165G |
probably benign |
Het |
| Peak1 |
C |
T |
9: 56,166,567 (GRCm39) |
V454I |
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,482,360 (GRCm39) |
G125D |
probably damaging |
Het |
| S100a16 |
T |
C |
3: 90,449,381 (GRCm39) |
F19L |
probably damaging |
Het |
| Serpine2 |
T |
C |
1: 79,788,388 (GRCm39) |
K190E |
probably damaging |
Het |
| Tex101 |
T |
C |
7: 24,367,738 (GRCm39) |
T205A |
possibly damaging |
Het |
| Tssk5 |
T |
C |
15: 76,257,916 (GRCm39) |
E147G |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,144,675 (GRCm39) |
T1495A |
probably damaging |
Het |
| Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
| Wdr70 |
A |
T |
15: 8,108,638 (GRCm39) |
|
probably null |
Het |
| Zfp811 |
T |
A |
17: 33,016,348 (GRCm39) |
|
probably null |
Het |
| Zscan10 |
T |
A |
17: 23,826,103 (GRCm39) |
F88L |
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 |
|
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'- CAGTCGTTCAGCTATAAGATGTG -3'
(R):5'- ATAATACTGGAGGGTTTCAATGGTG -3'
Sequencing Primer
(F):5'- GTCGTTCAGCTATAAGATGTGTACAG -3'
(R):5'- CGTTGTTTACAAGTAAGCTTAACATG -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation