Incidental Mutation 'R5656:Slf2'
| ID |
442362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
6030443O07Rik, Fam178a |
| MMRRC Submission |
043302-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
R5656 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 44961674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1064
(D1064E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096053]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000096053
AA Change: D1064E
PolyPhen 2
Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: D1064E
| 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: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
G |
8: 106,436,144 (GRCm39) |
S139G |
probably benign |
Het |
| Adrb3 |
T |
C |
8: 27,717,405 (GRCm39) |
D348G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,587,587 (GRCm39) |
V1959A |
probably benign |
Het |
| Bicral |
G |
A |
17: 47,119,295 (GRCm39) |
T742M |
probably damaging |
Het |
| Bub1b |
T |
A |
2: 118,435,912 (GRCm39) |
I60N |
probably damaging |
Het |
| Ccdc162 |
A |
G |
10: 41,445,930 (GRCm39) |
V414A |
probably benign |
Het |
| Cd22 |
T |
G |
7: 30,569,198 (GRCm39) |
Y612S |
probably damaging |
Het |
| Cd68 |
T |
A |
11: 69,555,247 (GRCm39) |
I320F |
probably damaging |
Het |
| Clca3a2 |
A |
T |
3: 144,503,393 (GRCm39) |
N852K |
probably benign |
Het |
| Cpa6 |
T |
A |
1: 10,399,739 (GRCm39) |
H363L |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,489,087 (GRCm39) |
L320Q |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,421,210 (GRCm39) |
D3849G |
probably benign |
Het |
| Eci1 |
T |
A |
17: 24,656,283 (GRCm39) |
N164K |
probably damaging |
Het |
| Efs |
T |
C |
14: 55,154,584 (GRCm39) |
T552A |
probably damaging |
Het |
| Fbp1 |
C |
A |
13: 63,023,010 (GRCm39) |
V96L |
probably damaging |
Het |
| Gtf3c1 |
T |
A |
7: 125,261,826 (GRCm39) |
N1139I |
probably benign |
Het |
| Gucy1b2 |
T |
C |
14: 62,660,430 (GRCm39) |
Y152C |
probably damaging |
Het |
| Gxylt1 |
A |
T |
15: 93,143,542 (GRCm39) |
L362Q |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,743,191 (GRCm39) |
|
probably null |
Het |
| Klhl41 |
T |
A |
2: 69,513,876 (GRCm39) |
I585N |
possibly damaging |
Het |
| Map6 |
A |
G |
7: 98,985,505 (GRCm39) |
K470E |
probably damaging |
Het |
| Mast3 |
T |
C |
8: 71,238,865 (GRCm39) |
T496A |
probably damaging |
Het |
| Mbd6 |
A |
T |
10: 127,121,155 (GRCm39) |
|
probably benign |
Het |
| Melk |
A |
G |
4: 44,312,237 (GRCm39) |
K183R |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,086,759 (GRCm39) |
V152A |
probably damaging |
Het |
| Naa35 |
G |
A |
13: 59,770,680 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
A |
C |
10: 109,600,494 (GRCm39) |
S1378A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Nlrp4f |
G |
A |
13: 65,338,685 (GRCm39) |
R651* |
probably null |
Het |
| Or1e1f |
T |
A |
11: 73,855,536 (GRCm39) |
M34K |
probably damaging |
Het |
| Or5b121 |
A |
G |
19: 13,507,744 (GRCm39) |
T280A |
probably benign |
Het |
| Or5p72 |
A |
G |
7: 108,021,825 (GRCm39) |
I16V |
probably benign |
Het |
| P2rx7 |
A |
T |
5: 122,811,780 (GRCm39) |
R364W |
probably damaging |
Het |
| Phactr2 |
T |
C |
10: 13,264,447 (GRCm39) |
D2G |
probably benign |
Het |
| Phc3 |
G |
T |
3: 31,020,015 (GRCm39) |
S28R |
probably damaging |
Het |
| Ppfia1 |
A |
T |
7: 144,073,711 (GRCm39) |
|
probably null |
Het |
| Prdm10 |
C |
T |
9: 31,264,713 (GRCm39) |
T667M |
probably benign |
Het |
| Pwwp2b |
T |
A |
7: 138,835,887 (GRCm39) |
S443T |
possibly damaging |
Het |
| Pzp |
T |
C |
6: 128,467,035 (GRCm39) |
T1113A |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,526,962 (GRCm39) |
E551G |
possibly damaging |
Het |
| Sec23ip |
A |
G |
7: 128,378,508 (GRCm39) |
Y774C |
probably damaging |
Het |
| Setdb2 |
T |
C |
14: 59,656,567 (GRCm39) |
D266G |
probably damaging |
Het |
| Shank1 |
T |
C |
7: 44,002,310 (GRCm39) |
V1343A |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,334,245 (GRCm39) |
K424E |
probably benign |
Het |
| Smg1 |
A |
T |
7: 117,753,887 (GRCm39) |
|
probably benign |
Het |
| Sptlc2 |
A |
T |
12: 87,393,535 (GRCm39) |
L264Q |
probably damaging |
Het |
| Sra1 |
A |
G |
18: 36,811,460 (GRCm39) |
S93P |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,271,680 (GRCm39) |
E169G |
probably benign |
Het |
| Sv2a |
A |
G |
3: 96,092,888 (GRCm39) |
D196G |
probably damaging |
Het |
| Tbc1d22b |
A |
G |
17: 29,813,754 (GRCm39) |
I362M |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,681,797 (GRCm39) |
D2611G |
probably damaging |
Het |
| Tmem43 |
T |
C |
6: 91,457,690 (GRCm39) |
F191L |
probably benign |
Het |
| Trbv13-2 |
T |
A |
6: 41,098,628 (GRCm39) |
Y68N |
probably benign |
Het |
| Ttn |
T |
G |
2: 76,604,998 (GRCm39) |
D18312A |
possibly damaging |
Het |
| Ublcp1 |
A |
G |
11: 44,356,433 (GRCm39) |
V95A |
probably damaging |
Het |
| Usp17ld |
A |
G |
7: 102,900,047 (GRCm39) |
V295A |
probably damaging |
Het |
| Vmn1r29 |
T |
A |
6: 58,285,152 (GRCm39) |
L291M |
possibly damaging |
Het |
| Vsig10l |
C |
T |
7: 43,113,575 (GRCm39) |
R176* |
probably null |
Het |
| Zbtb46 |
A |
G |
2: 181,065,210 (GRCm39) |
|
probably null |
Het |
| Zfp644 |
A |
G |
5: 106,785,848 (GRCm39) |
V233A |
probably benign |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATTTGAGGACTTTGGAGGAAACAG -3'
(R):5'- TACAACTGCTTAGCGCTGGG -3'
Sequencing Primer
(F):5'- TGGGTAGCAGAGAACTGGG -3'
(R):5'- GGCCACAGGAGAGCCTATTAC -3'
|
| Posted On |
2016-11-09 |
Incidental Mutation