Incidental Mutation 'R8746:Slf2'
| ID |
663580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
Fam178a, 6030443O07Rik |
| MMRRC Submission |
068590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.908)
|
| Stock # |
R8746 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44931119-44983787 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44973624 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 1080
(Y1080C)
|
| 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: Y1080C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: Y1080C
| 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 |
0.4695 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,303,410 (GRCm38) |
M871K |
probably benign |
Het |
| 5530400C23Rik |
A |
C |
6: 133,294,293 (GRCm38) |
E100A |
possibly damaging |
Het |
| Aatf |
A |
T |
11: 84,511,512 (GRCm38) |
I116N |
probably benign |
Het |
| Abcb11 |
G |
T |
2: 69,257,410 (GRCm38) |
|
probably benign |
Het |
| Adarb2 |
G |
T |
13: 8,752,644 (GRCm38) |
A652S |
probably benign |
Het |
| Adgb |
C |
T |
10: 10,405,284 (GRCm38) |
|
probably null |
Het |
| Ankrd34a |
C |
T |
3: 96,597,475 (GRCm38) |
|
probably benign |
Het |
| Ano2 |
A |
G |
6: 125,863,550 (GRCm38) |
I395V |
probably benign |
Het |
| Cadm2 |
C |
A |
16: 66,784,809 (GRCm38) |
R203L |
probably damaging |
Het |
| Ccr2 |
T |
C |
9: 124,106,411 (GRCm38) |
F243L |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,492,850 (GRCm38) |
V49A |
probably damaging |
Het |
| Corin |
T |
C |
5: 72,435,352 (GRCm38) |
D234G |
probably benign |
Het |
| Drd5 |
G |
T |
5: 38,320,090 (GRCm38) |
R142I |
probably benign |
Het |
| Dsg1b |
A |
G |
18: 20,395,999 (GRCm38) |
D264G |
probably damaging |
Het |
| Ezh2 |
T |
C |
6: 47,576,600 (GRCm38) |
K61R |
probably damaging |
Het |
| Frmd4b |
T |
A |
6: 97,292,409 (GRCm38) |
T981S |
probably benign |
Het |
| Gcg |
T |
A |
2: 62,474,981 (GRCm38) |
K180N |
probably damaging |
Het |
| Gm10840 |
G |
A |
11: 106,160,916 (GRCm38) |
E23K |
unknown |
Het |
| Gm2696 |
T |
G |
10: 77,815,203 (GRCm38) |
C174W |
unknown |
Het |
| Grin2b |
T |
C |
6: 135,922,987 (GRCm38) |
I299V |
probably benign |
Het |
| Hepacam |
T |
A |
9: 37,381,734 (GRCm38) |
V207E |
probably damaging |
Het |
| Igf1r |
T |
A |
7: 68,214,997 (GRCm38) |
M1181K |
probably damaging |
Het |
| Lmo2 |
T |
C |
2: 103,976,039 (GRCm38) |
S96P |
possibly damaging |
Het |
| Marf1 |
T |
A |
16: 14,117,304 (GRCm38) |
E1533D |
probably benign |
Het |
| Megf9 |
A |
G |
4: 70,435,274 (GRCm38) |
C432R |
probably damaging |
Het |
| Mpp2 |
A |
G |
11: 102,063,214 (GRCm38) |
Y236H |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,282,601 (GRCm38) |
I1565V |
probably damaging |
Het |
| Olfr1001-ps1 |
T |
A |
2: 85,633,877 (GRCm38) |
Y149* |
probably null |
Het |
| Olfr1392 |
A |
G |
11: 49,293,166 (GRCm38) |
|
probably benign |
Het |
| Olfr1469 |
A |
G |
19: 13,410,728 (GRCm38) |
D53G |
probably benign |
Het |
| Olfr203 |
T |
A |
16: 59,303,610 (GRCm38) |
F152L |
probably benign |
Het |
| Olfr308 |
C |
T |
7: 86,321,229 (GRCm38) |
C241Y |
probably damaging |
Het |
| Olfr663 |
A |
T |
7: 104,703,860 (GRCm38) |
I98F |
probably damaging |
Het |
| Olfr826 |
T |
C |
10: 130,180,217 (GRCm38) |
Y221C |
probably damaging |
Het |
| Patj |
T |
A |
4: 98,505,830 (GRCm38) |
|
probably benign |
Het |
| Pknox1 |
A |
T |
17: 31,590,650 (GRCm38) |
Q76L |
possibly damaging |
Het |
| Plekhg1 |
C |
A |
10: 3,957,777 (GRCm38) |
T953K |
|
Het |
| Plekhn1 |
C |
A |
4: 156,232,225 (GRCm38) |
R333L |
probably damaging |
Het |
| Plk5 |
T |
A |
10: 80,358,776 (GRCm38) |
V111D |
probably benign |
Het |
| Polr1b |
A |
G |
2: 129,112,677 (GRCm38) |
I398M |
possibly damaging |
Het |
| Ranbp3 |
T |
C |
17: 56,702,826 (GRCm38) |
V137A |
probably benign |
Het |
| Rc3h1 |
T |
A |
1: 160,930,174 (GRCm38) |
F21I |
probably damaging |
Het |
| Rgs8 |
T |
C |
1: 153,671,791 (GRCm38) |
S56P |
probably damaging |
Het |
| Rhpn1 |
G |
A |
15: 75,713,576 (GRCm38) |
V593M |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,289,925 (GRCm38) |
S589P |
probably benign |
Het |
| Skp1a |
A |
G |
11: 52,246,016 (GRCm38) |
K163R |
probably damaging |
Het |
| Tcf4 |
C |
T |
18: 69,521,501 (GRCm38) |
|
probably benign |
Het |
| Tmem144 |
C |
T |
3: 79,825,348 (GRCm38) |
V208M |
probably damaging |
Het |
| Tmem2 |
G |
A |
19: 21,826,101 (GRCm38) |
G833R |
probably damaging |
Het |
| Tomm34 |
A |
T |
2: 164,060,964 (GRCm38) |
L142Q |
probably benign |
Het |
| Unc13b |
T |
A |
4: 43,176,120 (GRCm38) |
V2316D |
unknown |
Het |
| Yme1l1 |
T |
A |
2: 23,162,531 (GRCm38) |
S66T |
probably benign |
Het |
| Zfc3h1 |
T |
C |
10: 115,407,980 (GRCm38) |
S739P |
probably damaging |
Het |
| Zscan25 |
T |
A |
5: 145,287,347 (GRCm38) |
V209E |
possibly 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 |
|
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 |
|
R9354:Slf2
|
UTSW |
19 |
44,948,032 (GRCm38) |
missense |
probably damaging |
0.98 |
|
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'- TAATAGGCTCTCCTGTGGCC -3'
(R):5'- ATGACTTCCCATCTTCCAGAGC -3'
Sequencing Primer
(F):5'- GGAGTAAGAAGCACTACTTAGTTTAG -3'
(R):5'- GAGCACACTCTCATTTTTAGAGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation