Incidental Mutation 'R0060:Slf2'
ID |
18096 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slf2
|
Ensembl Gene |
ENSMUSG00000036097 |
Gene Name |
SMC5-SMC6 complex localization factor 2 |
Synonyms |
6030443O07Rik, Fam178a |
MMRRC Submission |
038353-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.910)
|
Stock # |
R0060 (G1)
|
Quality Score |
|
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 44936443 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 696
(G696V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096053]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083225
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000096053
AA Change: G696V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000093758 Gene: ENSMUSG00000036097 AA Change: G696V
Domain | Start | End | E-Value | Type |
low complexity region
|
7 |
24 |
N/A |
INTRINSIC |
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
low complexity region
|
211 |
226 |
N/A |
INTRINSIC |
coiled coil region
|
239 |
266 |
N/A |
INTRINSIC |
low complexity region
|
495 |
514 |
N/A |
INTRINSIC |
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
low complexity region
|
549 |
568 |
N/A |
INTRINSIC |
low complexity region
|
572 |
582 |
N/A |
INTRINSIC |
low complexity region
|
601 |
616 |
N/A |
INTRINSIC |
Pfam:FAM178
|
647 |
1021 |
3.9e-146 |
PFAM |
|
Meta Mutation Damage Score |
0.0701 |
Coding Region Coverage |
- 1x: 90.4%
- 3x: 88.3%
- 10x: 83.8%
- 20x: 78.1%
|
Validation Efficiency |
94% (74/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1810065E05Rik |
A |
C |
11: 58,313,008 (GRCm39) |
|
probably benign |
Het |
4930432E11Rik |
A |
G |
7: 29,273,595 (GRCm39) |
|
noncoding transcript |
Het |
A630091E08Rik |
A |
G |
7: 98,192,875 (GRCm39) |
|
noncoding transcript |
Het |
Abca8a |
T |
C |
11: 109,961,306 (GRCm39) |
T539A |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,128,920 (GRCm39) |
|
probably benign |
Het |
Ankrd60 |
A |
T |
2: 173,414,406 (GRCm39) |
M1K |
probably null |
Het |
Cald1 |
T |
C |
6: 34,692,394 (GRCm39) |
|
probably benign |
Het |
Capn7 |
T |
C |
14: 31,087,561 (GRCm39) |
|
probably benign |
Het |
Cd109 |
G |
A |
9: 78,610,389 (GRCm39) |
E1145K |
probably damaging |
Het |
Celsr1 |
A |
T |
15: 85,806,399 (GRCm39) |
V2353D |
probably damaging |
Het |
Cep135 |
A |
T |
5: 76,769,197 (GRCm39) |
I616F |
probably benign |
Het |
Cep162 |
T |
A |
9: 87,119,878 (GRCm39) |
|
probably benign |
Het |
Cep350 |
C |
T |
1: 155,804,372 (GRCm39) |
D904N |
probably damaging |
Het |
Cep85 |
T |
C |
4: 133,894,611 (GRCm39) |
D65G |
probably damaging |
Het |
Cfdp1 |
T |
C |
8: 112,566,986 (GRCm39) |
|
probably benign |
Het |
Chl1 |
T |
A |
6: 103,688,019 (GRCm39) |
|
probably benign |
Het |
Colec10 |
G |
A |
15: 54,302,542 (GRCm39) |
|
probably benign |
Het |
Crxos |
A |
G |
7: 15,632,448 (GRCm39) |
T40A |
possibly damaging |
Het |
Dnhd1 |
A |
G |
7: 105,317,721 (GRCm39) |
D472G |
probably damaging |
Het |
Dpp6 |
C |
A |
5: 27,803,817 (GRCm39) |
N254K |
probably damaging |
Het |
Eps8l3 |
T |
C |
3: 107,786,857 (GRCm39) |
L11S |
probably damaging |
Het |
Flad1 |
G |
A |
3: 89,309,552 (GRCm39) |
R515* |
probably null |
Het |
Fzd5 |
T |
C |
1: 64,774,835 (GRCm39) |
T309A |
probably benign |
Het |
Gm19685 |
T |
C |
17: 61,075,418 (GRCm39) |
|
|
Het |
Gsdme |
A |
G |
6: 50,198,009 (GRCm39) |
I317T |
possibly damaging |
Het |
H2bc1 |
A |
T |
13: 24,117,928 (GRCm39) |
I71N |
possibly damaging |
Het |
Incenp |
A |
G |
19: 9,862,823 (GRCm39) |
|
probably benign |
Het |
Itgad |
T |
C |
7: 127,802,158 (GRCm39) |
S979P |
probably damaging |
Het |
Kat2b |
T |
C |
17: 53,961,571 (GRCm39) |
V557A |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,117,614 (GRCm39) |
|
probably benign |
Het |
Lgi4 |
G |
A |
7: 30,762,996 (GRCm39) |
G157D |
probably damaging |
Het |
Mga |
T |
C |
2: 119,791,442 (GRCm39) |
|
probably null |
Het |
Nubpl |
T |
C |
12: 52,357,470 (GRCm39) |
|
probably benign |
Het |
Or2b4 |
T |
C |
17: 38,116,891 (GRCm39) |
L285P |
probably damaging |
Het |
Or5be3 |
T |
C |
2: 86,864,118 (GRCm39) |
Y149C |
probably damaging |
Het |
Or8c20 |
C |
T |
9: 38,260,808 (GRCm39) |
S143F |
probably benign |
Het |
Peak1 |
A |
T |
9: 56,135,107 (GRCm39) |
I78K |
probably damaging |
Het |
Prune2 |
T |
A |
19: 16,981,097 (GRCm39) |
F85I |
probably damaging |
Het |
Rbm11 |
G |
T |
16: 75,395,667 (GRCm39) |
D113Y |
probably damaging |
Het |
Rif1 |
C |
T |
2: 52,001,129 (GRCm39) |
R1528C |
probably damaging |
Het |
Sema4d |
A |
G |
13: 51,859,293 (GRCm39) |
|
probably benign |
Het |
Slc30a4 |
T |
A |
2: 122,527,104 (GRCm39) |
T381S |
probably benign |
Het |
Suv39h2 |
T |
C |
2: 3,465,953 (GRCm39) |
Y134C |
probably damaging |
Het |
Tmem273 |
C |
A |
14: 32,528,726 (GRCm39) |
|
probably benign |
Het |
Tmem89 |
T |
A |
9: 108,744,485 (GRCm39) |
V126D |
probably damaging |
Het |
Trf |
T |
C |
9: 103,098,121 (GRCm39) |
T46A |
probably benign |
Het |
Trmt6 |
C |
T |
2: 132,648,689 (GRCm39) |
R415Q |
possibly damaging |
Het |
Trp53bp1 |
T |
C |
2: 121,035,006 (GRCm39) |
K1625E |
probably damaging |
Het |
Usp6nl |
T |
A |
2: 6,445,701 (GRCm39) |
D559E |
probably benign |
Het |
Wdr75 |
A |
G |
1: 45,855,777 (GRCm39) |
D476G |
probably benign |
Het |
Wrap53 |
A |
C |
11: 69,454,256 (GRCm39) |
L261V |
possibly damaging |
Het |
Zcchc4 |
T |
A |
5: 52,964,420 (GRCm39) |
I292N |
possibly damaging |
Het |
|
Other mutations in Slf2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01734:Slf2
|
APN |
19 |
44,961,706 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01904:Slf2
|
APN |
19 |
44,937,580 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02429:Slf2
|
APN |
19 |
44,930,167 (GRCm39) |
missense |
probably benign |
|
IGL02899:Slf2
|
APN |
19 |
44,930,459 (GRCm39) |
missense |
probably benign |
0.26 |
Evidentiary
|
UTSW |
19 |
44,926,863 (GRCm39) |
splice site |
probably null |
|
BB004:Slf2
|
UTSW |
19 |
44,923,740 (GRCm39) |
missense |
probably damaging |
0.97 |
BB014:Slf2
|
UTSW |
19 |
44,923,740 (GRCm39) |
missense |
probably damaging |
0.97 |
R0731:Slf2
|
UTSW |
19 |
44,964,165 (GRCm39) |
splice site |
probably benign |
|
R1158:Slf2
|
UTSW |
19 |
44,919,855 (GRCm39) |
missense |
probably damaging |
0.99 |
R1590:Slf2
|
UTSW |
19 |
44,930,512 (GRCm39) |
nonsense |
probably null |
|
R1608:Slf2
|
UTSW |
19 |
44,937,440 (GRCm39) |
missense |
probably benign |
0.08 |
R1823:Slf2
|
UTSW |
19 |
44,923,687 (GRCm39) |
missense |
possibly damaging |
0.86 |
R2511:Slf2
|
UTSW |
19 |
44,930,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3040:Slf2
|
UTSW |
19 |
44,969,008 (GRCm39) |
missense |
probably damaging |
0.99 |
R3236:Slf2
|
UTSW |
19 |
44,930,773 (GRCm39) |
missense |
probably benign |
0.33 |
R3237:Slf2
|
UTSW |
19 |
44,930,773 (GRCm39) |
missense |
probably benign |
0.33 |
R3552:Slf2
|
UTSW |
19 |
44,923,390 (GRCm39) |
nonsense |
probably null |
|
R3754:Slf2
|
UTSW |
19 |
44,961,676 (GRCm39) |
missense |
probably benign |
|
R4683:Slf2
|
UTSW |
19 |
44,923,920 (GRCm39) |
missense |
probably benign |
0.22 |
R4757:Slf2
|
UTSW |
19 |
44,923,497 (GRCm39) |
missense |
probably benign |
|
R4782:Slf2
|
UTSW |
19 |
44,923,364 (GRCm39) |
splice site |
probably null |
|
R4914:Slf2
|
UTSW |
19 |
44,960,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R4915:Slf2
|
UTSW |
19 |
44,960,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R4916:Slf2
|
UTSW |
19 |
44,960,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R4917:Slf2
|
UTSW |
19 |
44,960,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R4918:Slf2
|
UTSW |
19 |
44,960,100 (GRCm39) |
missense |
probably damaging |
0.96 |
R5069:Slf2
|
UTSW |
19 |
44,923,692 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5092:Slf2
|
UTSW |
19 |
44,940,523 (GRCm39) |
missense |
probably benign |
0.14 |
R5215:Slf2
|
UTSW |
19 |
44,936,476 (GRCm39) |
missense |
probably damaging |
0.99 |
R5276:Slf2
|
UTSW |
19 |
44,923,600 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5656:Slf2
|
UTSW |
19 |
44,961,674 (GRCm39) |
missense |
probably benign |
0.13 |
R6132:Slf2
|
UTSW |
19 |
44,949,300 (GRCm39) |
missense |
possibly damaging |
0.60 |
R6358:Slf2
|
UTSW |
19 |
44,923,864 (GRCm39) |
missense |
probably benign |
0.34 |
R6481:Slf2
|
UTSW |
19 |
44,961,603 (GRCm39) |
missense |
probably benign |
0.01 |
R6809:Slf2
|
UTSW |
19 |
44,931,907 (GRCm39) |
missense |
probably damaging |
0.98 |
R7263:Slf2
|
UTSW |
19 |
44,926,863 (GRCm39) |
splice site |
probably null |
|
R7912:Slf2
|
UTSW |
19 |
44,930,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R7914:Slf2
|
UTSW |
19 |
44,947,499 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7927:Slf2
|
UTSW |
19 |
44,923,740 (GRCm39) |
missense |
probably damaging |
0.97 |
R8006:Slf2
|
UTSW |
19 |
44,930,756 (GRCm39) |
missense |
probably damaging |
0.99 |
R8154:Slf2
|
UTSW |
19 |
44,923,596 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8746:Slf2
|
UTSW |
19 |
44,962,063 (GRCm39) |
missense |
probably damaging |
1.00 |
R9075:Slf2
|
UTSW |
19 |
44,930,860 (GRCm39) |
missense |
probably damaging |
0.99 |
R9352:Slf2
|
UTSW |
19 |
44,931,957 (GRCm39) |
missense |
probably null |
0.97 |
R9354:Slf2
|
UTSW |
19 |
44,936,471 (GRCm39) |
missense |
probably damaging |
0.98 |
R9369:Slf2
|
UTSW |
19 |
44,923,953 (GRCm39) |
nonsense |
probably null |
|
R9412:Slf2
|
UTSW |
19 |
44,930,460 (GRCm39) |
missense |
probably benign |
0.31 |
R9743:Slf2
|
UTSW |
19 |
44,930,572 (GRCm39) |
missense |
probably benign |
0.40 |
R9778:Slf2
|
UTSW |
19 |
44,961,666 (GRCm39) |
missense |
probably benign |
0.04 |
Z1176:Slf2
|
UTSW |
19 |
44,930,104 (GRCm39) |
nonsense |
probably null |
|
|
Posted On |
2013-03-25 |