Incidental Mutation 'R0125:Slf1'
| ID |
21320 |
| 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 |
038410-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0125 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77191864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 990
(N990S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: N990S
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: N990S
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 87.1%
|
| Validation Efficiency |
98% (96/98) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
C |
14: 70,394,096 (GRCm39) |
|
probably benign |
Het |
| Adam23 |
T |
C |
1: 63,573,515 (GRCm39) |
L261P |
probably benign |
Het |
| Adgra3 |
G |
A |
5: 50,159,194 (GRCm39) |
|
probably benign |
Het |
| Agtr1b |
A |
G |
3: 20,369,704 (GRCm39) |
F301L |
probably benign |
Het |
| Ahnak2 |
G |
A |
12: 112,748,776 (GRCm39) |
T357I |
probably benign |
Het |
| Aldh1a7 |
T |
C |
19: 20,704,430 (GRCm39) |
|
probably benign |
Het |
| Apoh |
A |
T |
11: 108,302,899 (GRCm39) |
N288I |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,227,340 (GRCm39) |
V24A |
probably benign |
Het |
| Atp6v0a1 |
A |
G |
11: 100,929,677 (GRCm39) |
|
probably null |
Het |
| Axl |
A |
T |
7: 25,486,368 (GRCm39) |
M112K |
probably benign |
Het |
| Bnc2 |
A |
C |
4: 84,211,169 (GRCm39) |
I425S |
probably damaging |
Het |
| Ccn4 |
T |
C |
15: 66,789,194 (GRCm39) |
S227P |
possibly damaging |
Het |
| Cdc42bpa |
C |
T |
1: 179,788,763 (GRCm39) |
T30M |
probably damaging |
Het |
| Cebpz |
C |
A |
17: 79,227,317 (GRCm39) |
R1051M |
possibly damaging |
Het |
| Ces1d |
A |
C |
8: 93,901,810 (GRCm39) |
|
probably benign |
Het |
| Chd1l |
T |
C |
3: 97,494,465 (GRCm39) |
N405S |
probably benign |
Het |
| Chodl |
G |
T |
16: 78,738,311 (GRCm39) |
G93V |
probably damaging |
Het |
| Cpeb2 |
C |
T |
5: 43,395,743 (GRCm39) |
|
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,935,105 (GRCm39) |
|
probably benign |
Het |
| Crybb3 |
T |
C |
5: 113,227,675 (GRCm39) |
T49A |
possibly damaging |
Het |
| Ctps1 |
A |
G |
4: 120,418,722 (GRCm39) |
|
probably benign |
Het |
| Cyp26b1 |
A |
G |
6: 84,551,497 (GRCm39) |
Y240H |
probably damaging |
Het |
| Cyp2d11 |
A |
C |
15: 82,273,422 (GRCm39) |
V483G |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,155,545 (GRCm39) |
K402E |
probably benign |
Het |
| Dnah14 |
A |
T |
1: 181,579,628 (GRCm39) |
N3054Y |
probably damaging |
Het |
| Dspp |
A |
C |
5: 104,325,905 (GRCm39) |
D756A |
unknown |
Het |
| Dst |
T |
C |
1: 34,309,984 (GRCm39) |
S1553P |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,622,559 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
T |
11: 29,832,088 (GRCm39) |
T194K |
probably benign |
Het |
| Evi5 |
A |
G |
5: 107,943,638 (GRCm39) |
I569T |
probably benign |
Het |
| Fancm |
C |
T |
12: 65,168,730 (GRCm39) |
P1698S |
possibly damaging |
Het |
| Fhdc1 |
T |
C |
3: 84,352,852 (GRCm39) |
D791G |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,930,188 (GRCm39) |
Y253H |
probably damaging |
Het |
| Gpn3 |
A |
G |
5: 122,519,481 (GRCm39) |
Y196C |
probably benign |
Het |
| Hcls1 |
A |
G |
16: 36,782,525 (GRCm39) |
D398G |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,189,163 (GRCm39) |
V1189A |
probably benign |
Het |
| Itgb3 |
G |
A |
11: 104,534,789 (GRCm39) |
D549N |
probably damaging |
Het |
| Itpr2 |
A |
G |
6: 146,141,951 (GRCm39) |
F1697S |
probably benign |
Het |
| Klk1b11 |
A |
G |
7: 43,648,475 (GRCm39) |
T161A |
probably benign |
Het |
| Kntc1 |
G |
A |
5: 123,903,120 (GRCm39) |
|
probably benign |
Het |
| Map3k19 |
A |
T |
1: 127,750,837 (GRCm39) |
F838Y |
probably benign |
Het |
| Map6 |
T |
A |
7: 98,985,187 (GRCm39) |
|
probably null |
Het |
| Mcrs1 |
A |
G |
15: 99,142,608 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
T |
4: 32,729,956 (GRCm39) |
Y2766F |
probably damaging |
Het |
| Med23 |
C |
T |
10: 24,776,686 (GRCm39) |
H739Y |
probably damaging |
Het |
| Mmp17 |
T |
A |
5: 129,671,646 (GRCm39) |
D65E |
possibly damaging |
Het |
| Mmp9 |
T |
A |
2: 164,793,177 (GRCm39) |
L442Q |
probably damaging |
Het |
| Myo19 |
T |
C |
11: 84,779,001 (GRCm39) |
|
probably benign |
Het |
| Nedd1 |
A |
C |
10: 92,527,791 (GRCm39) |
S468A |
possibly damaging |
Het |
| Niban2 |
T |
A |
2: 32,813,833 (GRCm39) |
V682D |
probably benign |
Het |
| Nlrp4d |
A |
C |
7: 10,116,316 (GRCm39) |
V152G |
probably damaging |
Het |
| Nxf1 |
T |
A |
19: 8,740,170 (GRCm39) |
D112E |
probably benign |
Het |
| Oas1h |
A |
T |
5: 121,000,626 (GRCm39) |
K79* |
probably null |
Het |
| Omg |
T |
A |
11: 79,393,679 (GRCm39) |
I60F |
possibly damaging |
Het |
| Or5p69 |
A |
G |
7: 107,967,576 (GRCm39) |
Y293C |
probably damaging |
Het |
| Or8b101 |
A |
G |
9: 38,020,815 (GRCm39) |
T278A |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,757 (GRCm39) |
L140* |
probably null |
Het |
| Pck1 |
G |
A |
2: 172,997,874 (GRCm39) |
W314* |
probably null |
Het |
| Pla2g15 |
T |
C |
8: 106,889,756 (GRCm39) |
Y343H |
probably benign |
Het |
| Plcb3 |
T |
C |
19: 6,936,276 (GRCm39) |
E749G |
probably damaging |
Het |
| Plgrkt |
A |
G |
19: 29,328,442 (GRCm39) |
|
probably null |
Het |
| Pprc1 |
A |
G |
19: 46,057,951 (GRCm39) |
|
probably benign |
Het |
| Prkdc |
A |
T |
16: 15,516,871 (GRCm39) |
I1082F |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,516,701 (GRCm39) |
Y172* |
probably null |
Het |
| Ros1 |
G |
T |
10: 52,001,885 (GRCm39) |
A1079D |
probably benign |
Het |
| Sap30 |
T |
C |
8: 57,938,545 (GRCm39) |
E147G |
probably null |
Het |
| Sell |
T |
C |
1: 163,899,674 (GRCm39) |
|
probably benign |
Het |
| Senp1 |
A |
T |
15: 97,946,112 (GRCm39) |
D544E |
probably damaging |
Het |
| Shpk |
G |
A |
11: 73,105,048 (GRCm39) |
|
probably benign |
Het |
| Slc35b1 |
A |
T |
11: 95,277,353 (GRCm39) |
T74S |
probably benign |
Het |
| Slc6a3 |
T |
A |
13: 73,718,098 (GRCm39) |
|
probably benign |
Het |
| Smgc |
A |
G |
15: 91,738,746 (GRCm39) |
|
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,351,515 (GRCm39) |
V861D |
probably damaging |
Het |
| Sprr2e |
C |
T |
3: 92,260,285 (GRCm39) |
P39S |
unknown |
Het |
| Sstr2 |
T |
A |
11: 113,515,303 (GRCm39) |
M74K |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,099,937 (GRCm39) |
|
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,889 (GRCm39) |
I240V |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,563,937 (GRCm39) |
I233V |
probably benign |
Het |
| Tecpr1 |
G |
T |
5: 144,134,717 (GRCm39) |
D1055E |
probably damaging |
Het |
| Thap2 |
A |
T |
10: 115,212,277 (GRCm39) |
|
probably null |
Het |
| Tinagl1 |
A |
G |
4: 130,060,101 (GRCm39) |
Y388H |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,585,896 (GRCm39) |
Y21945F |
probably damaging |
Het |
| Ugt2b1 |
A |
T |
5: 87,073,961 (GRCm39) |
W133R |
probably benign |
Het |
| Usp24 |
C |
T |
4: 106,254,496 (GRCm39) |
P1491L |
possibly damaging |
Het |
| Utp15 |
A |
G |
13: 98,387,390 (GRCm39) |
S395P |
possibly damaging |
Het |
| Vav1 |
T |
A |
17: 57,606,847 (GRCm39) |
L254Q |
probably damaging |
Het |
| Vmn2r104 |
T |
C |
17: 20,250,069 (GRCm39) |
Y734C |
probably damaging |
Het |
| Vps8 |
T |
A |
16: 21,288,904 (GRCm39) |
V421E |
probably benign |
Het |
| Xkr7 |
G |
T |
2: 152,874,346 (GRCm39) |
A138S |
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 |
|
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 |
|
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'- TGACAGCTCTGTGATTGACTGACAC -3'
(R):5'- TGTTCTTAATTGGCAGCAGGGAAGG -3'
Sequencing Primer
(F):5'- GACACATCATTTTCAGTGTCACCAG -3'
(R):5'- CGATACAGTGGACAACTTTCATGC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation