Incidental Mutation 'R6132:Slf2'
| ID |
487212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
6030443O07Rik, Fam178a |
| MMRRC Submission |
044279-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R6132 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44949300 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 870
(N870K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096053]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096053
AA Change: N870K
PolyPhen 2
Score 0.601 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: N870K
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (49/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
T |
C |
7: 119,960,643 (GRCm39) |
Y702H |
probably benign |
Het |
| Adgrv1 |
G |
T |
13: 81,654,195 (GRCm39) |
N2225K |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Alkbh5 |
G |
T |
11: 60,428,821 (GRCm39) |
|
probably benign |
Het |
| Atp5mc1 |
A |
G |
11: 95,965,850 (GRCm39) |
M1T |
probably null |
Het |
| Crebrf |
C |
T |
17: 26,982,377 (GRCm39) |
P588S |
probably benign |
Het |
| Ctsr |
A |
C |
13: 61,309,582 (GRCm39) |
|
probably null |
Het |
| Cyp2c68 |
A |
G |
19: 39,691,858 (GRCm39) |
V355A |
possibly damaging |
Het |
| Ddx52 |
A |
G |
11: 83,850,283 (GRCm39) |
K555E |
possibly damaging |
Het |
| Depdc5 |
T |
A |
5: 33,067,811 (GRCm39) |
S410T |
probably damaging |
Het |
| Dhx30 |
A |
T |
9: 109,914,847 (GRCm39) |
I884N |
probably damaging |
Het |
| Dlg1 |
A |
T |
16: 31,655,059 (GRCm39) |
N518I |
possibly damaging |
Het |
| Dnah12 |
T |
A |
14: 26,439,066 (GRCm39) |
I506N |
probably damaging |
Het |
| Efcab6 |
A |
G |
15: 83,917,173 (GRCm39) |
L129P |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,808,401 (GRCm39) |
N38D |
probably benign |
Het |
| Esf1 |
A |
G |
2: 140,001,699 (GRCm39) |
F383L |
probably benign |
Het |
| Exoc4 |
A |
G |
6: 33,735,033 (GRCm39) |
E550G |
probably damaging |
Het |
| Fbxo44 |
G |
A |
4: 148,240,565 (GRCm39) |
T221I |
probably benign |
Het |
| Gal3st2b |
A |
T |
1: 93,867,688 (GRCm39) |
M112L |
possibly damaging |
Het |
| Golph3l |
C |
G |
3: 95,499,145 (GRCm39) |
P96A |
probably benign |
Het |
| Gprc6a |
T |
A |
10: 51,491,356 (GRCm39) |
I727F |
possibly damaging |
Het |
| Grin3b |
T |
C |
10: 79,812,274 (GRCm39) |
L479P |
probably damaging |
Het |
| Kdm5a |
C |
T |
6: 120,351,892 (GRCm39) |
H161Y |
probably damaging |
Het |
| Lman2 |
A |
G |
13: 55,510,038 (GRCm39) |
S73P |
probably benign |
Het |
| Map3k19 |
T |
C |
1: 127,778,213 (GRCm39) |
N4S |
possibly damaging |
Het |
| Mkln1 |
G |
A |
6: 31,408,155 (GRCm39) |
V161M |
probably damaging |
Het |
| Mmel1 |
C |
T |
4: 154,979,475 (GRCm39) |
H728Y |
probably damaging |
Het |
| Nova2 |
G |
A |
7: 18,691,794 (GRCm39) |
A244T |
unknown |
Het |
| Nrcam |
T |
A |
12: 44,617,007 (GRCm39) |
Y668N |
probably damaging |
Het |
| Oacyl |
G |
T |
18: 65,859,426 (GRCm39) |
G255W |
probably damaging |
Het |
| Omd |
A |
C |
13: 49,743,843 (GRCm39) |
I298L |
probably damaging |
Het |
| Or5ac19 |
A |
G |
16: 59,089,367 (GRCm39) |
V221A |
probably damaging |
Het |
| Or5ak24 |
A |
T |
2: 85,260,490 (GRCm39) |
S228T |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Otor |
A |
T |
2: 142,920,520 (GRCm39) |
D34V |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Pwwp2a |
A |
G |
11: 43,596,455 (GRCm39) |
Y540C |
probably damaging |
Het |
| Rttn |
T |
A |
18: 89,133,770 (GRCm39) |
|
probably null |
Het |
| S1pr4 |
G |
A |
10: 81,335,030 (GRCm39) |
A148V |
probably benign |
Het |
| Scn10a |
C |
T |
9: 119,442,761 (GRCm39) |
V1495M |
possibly damaging |
Het |
| Sel1l3 |
T |
C |
5: 53,357,531 (GRCm39) |
K154E |
possibly damaging |
Het |
| Sema3a |
T |
G |
5: 13,573,142 (GRCm39) |
|
probably null |
Het |
| Spmip6 |
C |
T |
4: 41,517,160 (GRCm39) |
M1I |
probably null |
Het |
| Syne2 |
T |
C |
12: 75,991,921 (GRCm39) |
V1962A |
probably benign |
Het |
| Tarbp1 |
T |
A |
8: 127,161,548 (GRCm39) |
I1219F |
probably benign |
Het |
| Tet1 |
A |
C |
10: 62,649,079 (GRCm39) |
C173W |
probably damaging |
Het |
| Tnn |
A |
G |
1: 159,973,641 (GRCm39) |
F242S |
probably damaging |
Het |
| Tollip |
A |
G |
7: 141,443,334 (GRCm39) |
S174P |
probably benign |
Het |
| Tsr3 |
G |
T |
17: 25,460,835 (GRCm39) |
D234Y |
probably null |
Het |
| Vmn2r106 |
T |
C |
17: 20,488,666 (GRCm39) |
T578A |
probably benign |
Het |
| Zfp457 |
G |
T |
13: 67,441,360 (GRCm39) |
S309* |
probably null |
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 |
|
R0060:Slf2
|
UTSW |
19 |
44,936,443 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTACTCAAGGTGGTTTTGTGAAAGAG -3'
(R):5'- GATGGTAACTTTTACATTAGGGCAG -3'
Sequencing Primer
(F):5'- AGGTGGTTTTGTGAAAGAGTGATTTG -3'
(R):5'- AGCCCAGTTTTGTGGCATAC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation