Incidental Mutation 'IGL03088:Slf1'
| ID |
418207 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slf1
|
| Ensembl Gene |
ENSMUSG00000021597 |
| Gene Name |
SMC5-SMC6 complex localization factor 1 |
| Synonyms |
Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77232554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 517
(C517R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: C517R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: C517R
| 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 |
|
| Validation Efficiency |
|
| 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: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
G |
11: 58,184,210 (GRCm39) |
L299R |
unknown |
Het |
| Abca9 |
T |
G |
11: 110,035,087 (GRCm39) |
R693S |
probably benign |
Het |
| Adamts20 |
A |
T |
15: 94,227,795 (GRCm39) |
|
probably null |
Het |
| Afg1l |
T |
A |
10: 42,302,493 (GRCm39) |
D169V |
probably damaging |
Het |
| Agbl1 |
T |
A |
7: 76,369,890 (GRCm39) |
M663K |
probably benign |
Het |
| Angpt2 |
T |
A |
8: 18,791,039 (GRCm39) |
I86F |
probably benign |
Het |
| Ankrd2 |
G |
A |
19: 42,030,424 (GRCm39) |
E160K |
probably null |
Het |
| As3mt |
G |
T |
19: 46,696,233 (GRCm39) |
V14F |
probably damaging |
Het |
| Atp6v0a2 |
T |
C |
5: 124,791,171 (GRCm39) |
|
probably benign |
Het |
| Atp6v0d1 |
T |
A |
8: 106,257,591 (GRCm39) |
I113F |
probably damaging |
Het |
| Bank1 |
A |
G |
3: 135,799,123 (GRCm39) |
I406T |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,801,881 (GRCm39) |
V59A |
possibly damaging |
Het |
| Brsk1 |
A |
G |
7: 4,713,453 (GRCm39) |
|
probably benign |
Het |
| Cdh17 |
T |
A |
4: 11,810,473 (GRCm39) |
N721K |
probably damaging |
Het |
| Cercam |
A |
G |
2: 29,771,699 (GRCm39) |
|
probably benign |
Het |
| Clpb |
T |
A |
7: 101,434,656 (GRCm39) |
L484* |
probably null |
Het |
| Creb3l1 |
T |
A |
2: 91,825,739 (GRCm39) |
M127L |
probably benign |
Het |
| Cstdc1 |
A |
T |
2: 148,625,327 (GRCm39) |
H87L |
possibly damaging |
Het |
| Ctla2b |
A |
C |
13: 61,043,874 (GRCm39) |
D122E |
probably damaging |
Het |
| Cyb5rl |
C |
A |
4: 106,938,225 (GRCm39) |
Y12* |
probably null |
Het |
| Dennd5a |
T |
C |
7: 109,507,588 (GRCm39) |
Y800C |
probably damaging |
Het |
| Dmrt3 |
T |
G |
19: 25,600,411 (GRCm39) |
S419A |
probably benign |
Het |
| Elapor1 |
A |
G |
3: 108,443,674 (GRCm39) |
W31R |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,655,543 (GRCm39) |
V381A |
possibly damaging |
Het |
| Flg2 |
A |
T |
3: 93,110,498 (GRCm39) |
H842L |
unknown |
Het |
| Fn1 |
A |
T |
1: 71,653,197 (GRCm39) |
|
probably null |
Het |
| Fos |
A |
C |
12: 85,522,630 (GRCm39) |
T181P |
possibly damaging |
Het |
| Fzd10 |
A |
G |
5: 128,679,669 (GRCm39) |
Y463C |
possibly damaging |
Het |
| Gprc5b |
T |
C |
7: 118,582,856 (GRCm39) |
M338V |
probably benign |
Het |
| Gsta4 |
T |
C |
9: 78,113,345 (GRCm39) |
|
probably benign |
Het |
| Gstm2 |
T |
A |
3: 107,893,362 (GRCm39) |
T34S |
probably benign |
Het |
| Haspin |
C |
T |
11: 73,027,451 (GRCm39) |
R546Q |
probably damaging |
Het |
| Itgad |
G |
A |
7: 127,802,204 (GRCm39) |
R958H |
probably benign |
Het |
| Kansl1l |
A |
T |
1: 66,774,884 (GRCm39) |
H647Q |
probably damaging |
Het |
| Kif5c |
A |
C |
2: 49,634,455 (GRCm39) |
R762S |
probably benign |
Het |
| Klf4 |
C |
A |
4: 55,530,758 (GRCm39) |
A68S |
possibly damaging |
Het |
| Klf4 |
A |
G |
4: 55,530,811 (GRCm39) |
L50P |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,504,802 (GRCm39) |
E3502G |
probably damaging |
Het |
| Krt8 |
A |
G |
15: 101,909,022 (GRCm39) |
I202T |
possibly damaging |
Het |
| Lmcd1 |
A |
T |
6: 112,287,649 (GRCm39) |
T112S |
probably damaging |
Het |
| Lpxn |
T |
C |
19: 12,810,575 (GRCm39) |
C340R |
probably damaging |
Het |
| Man2a2 |
C |
T |
7: 80,009,082 (GRCm39) |
V844M |
possibly damaging |
Het |
| Map10 |
G |
A |
8: 126,397,809 (GRCm39) |
E401K |
probably benign |
Het |
| Mark4 |
A |
T |
7: 19,185,509 (GRCm39) |
L75Q |
probably damaging |
Het |
| Mlf2 |
T |
G |
6: 124,910,945 (GRCm39) |
M81R |
probably damaging |
Het |
| Mup3 |
A |
G |
4: 62,005,079 (GRCm39) |
I67T |
probably damaging |
Het |
| Mycbpap |
T |
C |
11: 94,404,769 (GRCm39) |
|
probably null |
Het |
| Myt1l |
T |
C |
12: 29,970,476 (GRCm39) |
V1185A |
probably benign |
Het |
| Ncoa7 |
C |
T |
10: 30,574,121 (GRCm39) |
|
probably null |
Het |
| Nos1 |
C |
A |
5: 118,005,323 (GRCm39) |
N14K |
probably damaging |
Het |
| Nova2 |
G |
T |
7: 18,684,494 (GRCm39) |
V116F |
unknown |
Het |
| Obox3 |
G |
A |
7: 15,360,927 (GRCm39) |
|
probably benign |
Het |
| Or10h1 |
A |
T |
17: 33,418,534 (GRCm39) |
T171S |
probably benign |
Het |
| Or2t46 |
T |
A |
11: 58,472,653 (GRCm39) |
|
probably benign |
Het |
| Or5v1 |
A |
G |
17: 37,809,539 (GRCm39) |
|
probably benign |
Het |
| Or8b50 |
A |
T |
9: 38,518,597 (GRCm39) |
S279C |
probably damaging |
Het |
| P2rx5 |
T |
A |
11: 73,056,446 (GRCm39) |
|
probably benign |
Het |
| Parvb |
T |
A |
15: 84,193,044 (GRCm39) |
|
probably benign |
Het |
| Popdc2 |
A |
T |
16: 38,194,184 (GRCm39) |
T202S |
probably damaging |
Het |
| Ppm1j |
T |
A |
3: 104,692,725 (GRCm39) |
Y411* |
probably null |
Het |
| Rapgefl1 |
C |
A |
11: 98,740,058 (GRCm39) |
L484M |
probably damaging |
Het |
| Septin14 |
A |
G |
5: 129,774,797 (GRCm39) |
|
probably benign |
Het |
| Smyd3 |
A |
G |
1: 178,921,898 (GRCm39) |
|
probably null |
Het |
| Snx9 |
A |
G |
17: 5,974,885 (GRCm39) |
T458A |
probably benign |
Het |
| Srgap1 |
T |
C |
10: 121,661,598 (GRCm39) |
D514G |
possibly damaging |
Het |
| Tbc1d14 |
A |
G |
5: 36,682,308 (GRCm39) |
S311P |
probably damaging |
Het |
| Timd6 |
C |
A |
11: 46,475,244 (GRCm39) |
F146L |
probably benign |
Het |
| Tmem150c |
T |
G |
5: 100,234,076 (GRCm39) |
K91N |
probably damaging |
Het |
| Traf3 |
T |
A |
12: 111,228,277 (GRCm39) |
M471K |
probably damaging |
Het |
| Tubd1 |
G |
T |
11: 86,443,825 (GRCm39) |
G178C |
probably damaging |
Het |
| Vav2 |
T |
C |
2: 27,157,262 (GRCm39) |
K847E |
possibly damaging |
Het |
| Vmn2r100 |
A |
T |
17: 19,742,301 (GRCm39) |
H225L |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,758,851 (GRCm39) |
|
probably benign |
Het |
| Xpo7 |
T |
G |
14: 70,918,702 (GRCm39) |
S710R |
probably benign |
Het |
| Zfp780b |
C |
T |
7: 27,662,417 (GRCm39) |
V713I |
possibly damaging |
Het |
| Zkscan17 |
A |
T |
11: 59,378,592 (GRCm39) |
I197N |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation