Incidental Mutation 'R5622:Slf1'
| ID |
441647 |
| 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 |
043161-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5622 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77198090 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 728
(K728R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: K728R
PolyPhen 2
Score 0.143 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: K728R
| 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 |
noncoding transcript
Transcript: ENSMUST00000162005
|
| Meta Mutation Damage Score |
0.0688 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (69/71) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,546,642 (GRCm39) |
S320T |
probably benign |
Het |
| Alg8 |
T |
A |
7: 97,036,006 (GRCm39) |
|
probably benign |
Het |
| Anp32b |
G |
A |
4: 46,469,930 (GRCm39) |
E202K |
unknown |
Het |
| Apcdd1 |
A |
G |
18: 63,069,973 (GRCm39) |
|
probably null |
Het |
| Apobec2 |
A |
G |
17: 48,730,444 (GRCm39) |
V74A |
possibly damaging |
Het |
| Arid3c |
A |
T |
4: 41,729,959 (GRCm39) |
C79S |
probably benign |
Het |
| Atp1a2 |
A |
T |
1: 172,118,994 (GRCm39) |
|
probably benign |
Het |
| B2m |
A |
T |
2: 121,981,471 (GRCm39) |
N62I |
probably damaging |
Het |
| Borcs5 |
T |
C |
6: 134,663,086 (GRCm39) |
|
probably null |
Het |
| Ccn1 |
A |
G |
3: 145,355,075 (GRCm39) |
L60P |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,714,674 (GRCm39) |
K127E |
probably damaging |
Het |
| Cep170 |
T |
C |
1: 176,563,433 (GRCm39) |
H726R |
possibly damaging |
Het |
| Col5a2 |
A |
C |
1: 45,466,219 (GRCm39) |
S190A |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,990 (GRCm39) |
D5G |
probably damaging |
Het |
| Cyp2a5 |
T |
G |
7: 26,535,299 (GRCm39) |
V87G |
probably damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,013,965 (GRCm39) |
|
probably benign |
Het |
| Dchs1 |
A |
G |
7: 105,404,500 (GRCm39) |
S2681P |
probably benign |
Het |
| Ddx20 |
A |
G |
3: 105,586,327 (GRCm39) |
S673P |
probably damaging |
Het |
| Deptor |
T |
A |
15: 55,044,428 (GRCm39) |
I198N |
probably damaging |
Het |
| Ebf2 |
T |
C |
14: 67,628,007 (GRCm39) |
I334T |
possibly damaging |
Het |
| F5 |
A |
G |
1: 164,020,134 (GRCm39) |
R870G |
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,109,871 (GRCm39) |
H633P |
unknown |
Het |
| Gm11938 |
T |
A |
11: 99,494,119 (GRCm39) |
|
probably null |
Het |
| Gm6370 |
A |
G |
5: 146,430,708 (GRCm39) |
T298A |
probably benign |
Het |
| H60b |
C |
A |
10: 22,159,441 (GRCm39) |
|
probably benign |
Het |
| Hsbp1 |
A |
G |
8: 120,071,324 (GRCm39) |
T4A |
possibly damaging |
Het |
| Hsd3b3 |
A |
T |
3: 98,649,524 (GRCm39) |
D266E |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,440,426 (GRCm39) |
Y287C |
probably damaging |
Het |
| Il20rb |
T |
A |
9: 100,368,371 (GRCm39) |
Q4L |
probably benign |
Het |
| Krt5 |
T |
C |
15: 101,617,470 (GRCm39) |
D421G |
probably damaging |
Het |
| Lonp1 |
G |
C |
17: 56,927,263 (GRCm39) |
A330G |
probably benign |
Het |
| Me3 |
A |
G |
7: 89,445,871 (GRCm39) |
D196G |
probably damaging |
Het |
| Mfsd12 |
T |
A |
10: 81,199,461 (GRCm39) |
V451E |
probably null |
Het |
| Mib1 |
A |
G |
18: 10,794,503 (GRCm39) |
N663S |
possibly damaging |
Het |
| Mtus2 |
A |
T |
5: 148,015,244 (GRCm39) |
N679I |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,438,915 (GRCm39) |
T146A |
probably benign |
Het |
| Neb |
T |
A |
2: 52,160,281 (GRCm39) |
H2244L |
probably damaging |
Het |
| Or51l4 |
T |
C |
7: 103,404,376 (GRCm39) |
T139A |
probably damaging |
Het |
| Or5b21 |
A |
C |
19: 12,839,663 (GRCm39) |
I175L |
probably benign |
Het |
| Or5p81 |
C |
T |
7: 108,267,289 (GRCm39) |
T222I |
probably benign |
Het |
| Pabpc4 |
A |
G |
4: 123,185,524 (GRCm39) |
|
probably null |
Het |
| Padi1 |
C |
A |
4: 140,552,266 (GRCm39) |
V393L |
probably damaging |
Het |
| Pax2 |
A |
T |
19: 44,806,905 (GRCm39) |
D300V |
probably damaging |
Het |
| Pcgf2 |
T |
C |
11: 97,581,078 (GRCm39) |
E71G |
probably damaging |
Het |
| Pi4kb |
A |
G |
3: 94,906,172 (GRCm39) |
Q573R |
possibly damaging |
Het |
| Pitpna |
T |
A |
11: 75,511,153 (GRCm39) |
M242K |
possibly damaging |
Het |
| Pkd1 |
A |
G |
17: 24,793,014 (GRCm39) |
E1567G |
possibly damaging |
Het |
| Plcb2 |
A |
T |
2: 118,545,210 (GRCm39) |
S630R |
probably damaging |
Het |
| Prrt2 |
A |
T |
7: 126,618,937 (GRCm39) |
V176D |
probably benign |
Het |
| Prss1l |
A |
C |
6: 41,373,084 (GRCm39) |
N119H |
probably damaging |
Het |
| Prss42 |
T |
C |
9: 110,628,490 (GRCm39) |
|
probably null |
Het |
| Rhoq |
A |
G |
17: 87,304,459 (GRCm39) |
R197G |
probably benign |
Het |
| Rin2 |
A |
T |
2: 145,702,299 (GRCm39) |
T332S |
probably benign |
Het |
| Rnps1-ps |
C |
T |
6: 7,982,605 (GRCm39) |
|
noncoding transcript |
Het |
| Rp1 |
A |
T |
1: 4,418,060 (GRCm39) |
N1017K |
possibly damaging |
Het |
| Setbp1 |
T |
A |
18: 78,900,700 (GRCm39) |
Y989F |
probably damaging |
Het |
| Slc11a1 |
G |
A |
1: 74,420,065 (GRCm39) |
G191D |
probably damaging |
Het |
| Slc35f5 |
G |
A |
1: 125,517,693 (GRCm39) |
R497Q |
probably damaging |
Het |
| Tiparp |
T |
G |
3: 65,454,946 (GRCm39) |
S364A |
probably benign |
Het |
| Tph1 |
G |
A |
7: 46,296,969 (GRCm39) |
Q409* |
probably null |
Het |
| Trp73 |
A |
T |
4: 154,145,049 (GRCm39) |
I526N |
possibly damaging |
Het |
| Ttc9c |
G |
A |
19: 8,793,332 (GRCm39) |
R103* |
probably null |
Het |
| Vmn2r75 |
T |
A |
7: 85,797,702 (GRCm39) |
I704F |
probably benign |
Het |
| Wdr76 |
A |
G |
2: 121,348,216 (GRCm39) |
R63G |
probably damaging |
Het |
| Zc3h3 |
T |
A |
15: 75,648,928 (GRCm39) |
S735C |
probably damaging |
Het |
| Zfp383 |
G |
A |
7: 29,611,615 (GRCm39) |
V32M |
probably damaging |
Het |
| Zfp810 |
T |
A |
9: 22,190,392 (GRCm39) |
Y172F |
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 |
|
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 |
|
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'- CTTAGTAGGAAGGAAGTATGGTCATTG -3'
(R):5'- GGAGAAGATCATGTTGCAACC -3'
Sequencing Primer
(F):5'- GGAAGGAAGTATGGTCATTGTATTAC -3'
(R):5'- GAAGATCATGTTGCAACCTAGTTATG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation