Incidental Mutation 'R9354:Slf2'
| ID |
708302 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
Fam178a, 6030443O07Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R9354 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44931119-44983787 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44948032 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 705
(D705E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096053]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000096053
AA Change: D705E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: D705E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,606,529 (GRCm38) |
Q181R |
unknown |
Het |
| Acsl1 |
T |
G |
8: 46,513,716 (GRCm38) |
C242G |
probably benign |
Het |
| Agap2 |
A |
C |
10: 127,087,235 (GRCm38) |
N646T |
unknown |
Het |
| Ankrd44 |
A |
T |
1: 54,648,279 (GRCm38) |
*994R |
probably null |
Het |
| Apol7c |
C |
T |
15: 77,525,912 (GRCm38) |
R278H |
possibly damaging |
Het |
| Birc6 |
A |
G |
17: 74,614,406 (GRCm38) |
E2166G |
probably benign |
Het |
| Caskin2 |
G |
A |
11: 115,802,642 (GRCm38) |
T528M |
probably damaging |
Het |
| Ccdc30 |
G |
T |
4: 119,373,653 (GRCm38) |
P15Q |
possibly damaging |
Het |
| Cemip2 |
A |
G |
19: 21,802,025 (GRCm38) |
S400G |
probably benign |
Het |
| Cenpf |
G |
A |
1: 189,646,917 (GRCm38) |
T45I |
|
Het |
| Cep68 |
T |
C |
11: 20,238,569 (GRCm38) |
E612G |
probably damaging |
Het |
| Chpf2 |
T |
C |
5: 24,591,394 (GRCm38) |
L446P |
probably damaging |
Het |
| Ctsl |
A |
T |
13: 64,369,036 (GRCm38) |
Y40N |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,314,640 (GRCm38) |
N496S |
probably benign |
Het |
| Espnl |
A |
T |
1: 91,344,601 (GRCm38) |
D561V |
probably benign |
Het |
| Flnb |
T |
A |
14: 7,818,411 (GRCm38) |
L87Q |
probably benign |
Het |
| Gbp9 |
T |
A |
5: 105,084,959 (GRCm38) |
I276F |
possibly damaging |
Het |
| Gid4 |
G |
T |
11: 60,417,792 (GRCm38) |
R46L |
probably benign |
Het |
| Gper1 |
G |
A |
5: 139,426,274 (GRCm38) |
D125N |
possibly damaging |
Het |
| Gpr146 |
A |
G |
5: 139,392,611 (GRCm38) |
N56S |
probably benign |
Het |
| Grhpr |
G |
T |
4: 44,981,465 (GRCm38) |
R5L |
probably benign |
Het |
| Gstm6 |
A |
T |
3: 107,942,702 (GRCm38) |
N59K |
probably damaging |
Het |
| Hdac7 |
A |
T |
15: 97,796,888 (GRCm38) |
F802L |
probably damaging |
Het |
| Igfbpl1 |
A |
T |
4: 45,816,348 (GRCm38) |
V159D |
probably damaging |
Het |
| Itga8 |
T |
C |
2: 12,232,857 (GRCm38) |
S351G |
possibly damaging |
Het |
| Itgad |
C |
A |
7: 128,185,974 (GRCm38) |
H354Q |
probably damaging |
Het |
| Jmjd1c |
T |
C |
10: 67,224,096 (GRCm38) |
S641P |
probably damaging |
Het |
| Klhl33 |
T |
C |
14: 50,892,928 (GRCm38) |
T110A |
probably benign |
Het |
| Lcorl |
T |
A |
5: 45,733,626 (GRCm38) |
K545* |
probably null |
Het |
| Lilra6 |
A |
G |
7: 3,911,629 (GRCm38) |
S546P |
probably damaging |
Het |
| Ly6c1 |
T |
A |
15: 75,044,622 (GRCm38) |
I124F |
probably benign |
Het |
| Map4 |
A |
G |
9: 110,068,779 (GRCm38) |
T858A |
probably benign |
Het |
| Marchf5 |
G |
T |
19: 37,207,865 (GRCm38) |
|
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,753,420 (GRCm38) |
K769E |
|
Het |
| Myh6 |
T |
A |
14: 54,963,535 (GRCm38) |
I157F |
probably damaging |
Het |
| Naip1 |
A |
G |
13: 100,427,486 (GRCm38) |
V389A |
probably benign |
Het |
| Or52b3 |
G |
A |
7: 102,555,190 (GRCm38) |
R302H |
possibly damaging |
Het |
| Pcdhgc4 |
A |
G |
18: 37,816,587 (GRCm38) |
H352R |
probably benign |
Het |
| Pde8a |
C |
T |
7: 81,332,871 (GRCm38) |
T746I |
probably damaging |
Het |
| Pick1 |
T |
C |
15: 79,239,648 (GRCm38) |
V73A |
probably damaging |
Het |
| Ppwd1 |
C |
T |
13: 104,205,572 (GRCm38) |
V625I |
probably benign |
Het |
| Prss59 |
A |
G |
6: 40,928,539 (GRCm38) |
V61A |
probably damaging |
Het |
| Prune2 |
A |
G |
19: 17,122,622 (GRCm38) |
E1830G |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,437,393 (GRCm38) |
N445S |
possibly damaging |
Het |
| Rapgef6 |
G |
T |
11: 54,619,923 (GRCm38) |
R222L |
possibly damaging |
Het |
| Rorc |
A |
T |
3: 94,372,863 (GRCm38) |
|
probably benign |
Het |
| Rps6ka1 |
A |
C |
4: 133,867,121 (GRCm38) |
|
probably null |
Het |
| Sdk2 |
T |
C |
11: 113,834,931 (GRCm38) |
Y1164C |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,756 (GRCm38) |
Y304* |
probably null |
Het |
| Slc26a4 |
A |
T |
12: 31,535,256 (GRCm38) |
V513D |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,027,589 (GRCm38) |
T704A |
probably benign |
Het |
| Tex15 |
C |
G |
8: 33,573,316 (GRCm38) |
Q925E |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,785,892 (GRCm38) |
T145S |
probably benign |
Het |
| Trpm3 |
G |
A |
19: 22,448,332 (GRCm38) |
C17Y |
probably benign |
Het |
| Usp42 |
A |
G |
5: 143,715,272 (GRCm38) |
Y999H |
probably benign |
Het |
| Vat1 |
A |
C |
11: 101,460,615 (GRCm38) |
M300R |
probably benign |
Het |
| Vmn1r85 |
T |
A |
7: 13,084,798 (GRCm38) |
I140F |
probably damaging |
Het |
| Vmn2r57 |
T |
C |
7: 41,400,239 (GRCm38) |
I695M |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 119,965,699 (GRCm38) |
R789Q |
unknown |
Het |
| Zswim5 |
G |
A |
4: 116,987,035 (GRCm38) |
G1090D |
probably damaging |
Het |
|
| Other mutations in Slf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01734:Slf2
|
APN |
19 |
44,973,267 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01904:Slf2
|
APN |
19 |
44,949,141 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02429:Slf2
|
APN |
19 |
44,941,728 (GRCm38) |
missense |
probably benign |
|
|
IGL02899:Slf2
|
APN |
19 |
44,942,020 (GRCm38) |
missense |
probably benign |
0.26 |
|
Evidentiary
|
UTSW |
19 |
44,938,424 (GRCm38) |
splice site |
probably null |
|
|
BB004:Slf2
|
UTSW |
19 |
44,935,301 (GRCm38) |
missense |
probably damaging |
0.97 |
|
BB014:Slf2
|
UTSW |
19 |
44,935,301 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0060:Slf2
|
UTSW |
19 |
44,948,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0731:Slf2
|
UTSW |
19 |
44,975,726 (GRCm38) |
splice site |
probably benign |
|
|
R1158:Slf2
|
UTSW |
19 |
44,931,416 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1590:Slf2
|
UTSW |
19 |
44,942,073 (GRCm38) |
nonsense |
probably null |
|
|
R1608:Slf2
|
UTSW |
19 |
44,949,001 (GRCm38) |
missense |
probably benign |
0.08 |
|
R1823:Slf2
|
UTSW |
19 |
44,935,248 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R2511:Slf2
|
UTSW |
19 |
44,941,606 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3040:Slf2
|
UTSW |
19 |
44,980,569 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3236:Slf2
|
UTSW |
19 |
44,942,334 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3237:Slf2
|
UTSW |
19 |
44,942,334 (GRCm38) |
missense |
probably benign |
0.33 |
|
R3552:Slf2
|
UTSW |
19 |
44,934,951 (GRCm38) |
nonsense |
probably null |
|
|
R3754:Slf2
|
UTSW |
19 |
44,973,237 (GRCm38) |
missense |
probably benign |
|
|
R4683:Slf2
|
UTSW |
19 |
44,935,481 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4757:Slf2
|
UTSW |
19 |
44,935,058 (GRCm38) |
missense |
probably benign |
|
|
R4782:Slf2
|
UTSW |
19 |
44,934,925 (GRCm38) |
splice site |
probably null |
|
|
R4914:Slf2
|
UTSW |
19 |
44,971,661 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4915:Slf2
|
UTSW |
19 |
44,971,661 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4916:Slf2
|
UTSW |
19 |
44,971,661 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4917:Slf2
|
UTSW |
19 |
44,971,661 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4918:Slf2
|
UTSW |
19 |
44,971,661 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5069:Slf2
|
UTSW |
19 |
44,935,253 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R5092:Slf2
|
UTSW |
19 |
44,952,084 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5215:Slf2
|
UTSW |
19 |
44,948,037 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5276:Slf2
|
UTSW |
19 |
44,935,161 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R5656:Slf2
|
UTSW |
19 |
44,973,235 (GRCm38) |
missense |
probably benign |
0.13 |
|
R6132:Slf2
|
UTSW |
19 |
44,960,861 (GRCm38) |
missense |
possibly damaging |
0.60 |
|
R6358:Slf2
|
UTSW |
19 |
44,935,425 (GRCm38) |
missense |
probably benign |
0.34 |
|
R6481:Slf2
|
UTSW |
19 |
44,973,164 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6809:Slf2
|
UTSW |
19 |
44,943,468 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7263:Slf2
|
UTSW |
19 |
44,938,424 (GRCm38) |
splice site |
probably null |
|
|
R7912:Slf2
|
UTSW |
19 |
44,942,243 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R7914:Slf2
|
UTSW |
19 |
44,959,060 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
R7927:Slf2
|
UTSW |
19 |
44,935,301 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8006:Slf2
|
UTSW |
19 |
44,942,317 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8154:Slf2
|
UTSW |
19 |
44,935,157 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R8746:Slf2
|
UTSW |
19 |
44,973,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9075:Slf2
|
UTSW |
19 |
44,942,421 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9352:Slf2
|
UTSW |
19 |
44,943,518 (GRCm38) |
missense |
probably null |
0.97 |
|
R9369:Slf2
|
UTSW |
19 |
44,935,514 (GRCm38) |
nonsense |
probably null |
|
|
R9412:Slf2
|
UTSW |
19 |
44,942,021 (GRCm38) |
missense |
probably benign |
0.31 |
|
R9743:Slf2
|
UTSW |
19 |
44,942,133 (GRCm38) |
missense |
probably benign |
0.40 |
|
R9778:Slf2
|
UTSW |
19 |
44,973,227 (GRCm38) |
missense |
probably benign |
0.04 |
|
Z1176:Slf2
|
UTSW |
19 |
44,941,665 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTAGATCACAGCAAAAGCTG -3'
(R):5'- GTGCTAACACTTAGGCTGTAACTTG -3'
Sequencing Primer
(F):5'- TCTCTGAATTAAGGCCAGGC -3'
(R):5'- ACTTAGGCTGTAACTTGGTTTTAATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation