Incidental Mutation 'R7927:Slf2'
| ID |
643410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
6030443O07Rik, Fam178a |
| MMRRC Submission |
045974-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R7927 (G1)
|
| Quality Score |
999 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 44923740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 185
(K185E)
|
| 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: K185E
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: K185E
| 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: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
98% (56/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
A |
G |
4: 103,123,539 (GRCm39) |
M111T |
probably benign |
Het |
| Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
| Agrn |
C |
T |
4: 156,257,266 (GRCm39) |
G1188D |
probably damaging |
Het |
| Amz2 |
A |
G |
11: 109,319,884 (GRCm39) |
K90R |
probably damaging |
Het |
| Arhgef4 |
G |
T |
1: 34,846,334 (GRCm39) |
Q227H |
probably damaging |
Het |
| B4galt3 |
T |
A |
1: 171,099,342 (GRCm39) |
C10* |
probably null |
Het |
| Banf2 |
T |
A |
2: 143,915,718 (GRCm39) |
M53K |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,117,371 (GRCm39) |
L249* |
probably null |
Het |
| Cftr |
A |
G |
6: 18,267,970 (GRCm39) |
D673G |
possibly damaging |
Het |
| Cntnap2 |
G |
T |
6: 47,072,621 (GRCm39) |
C1063F |
possibly damaging |
Het |
| Cstpp1 |
T |
A |
2: 91,252,250 (GRCm39) |
D37V |
probably damaging |
Het |
| Dnah3 |
A |
G |
7: 119,550,494 (GRCm39) |
I296T |
probably damaging |
Het |
| Dpy19l2 |
A |
G |
9: 24,607,197 (GRCm39) |
V88A |
probably benign |
Het |
| Fbln5 |
T |
C |
12: 101,784,647 (GRCm39) |
|
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,225,656 (GRCm39) |
D532G |
possibly damaging |
Het |
| Fnta |
G |
A |
8: 26,494,454 (GRCm39) |
R258* |
probably null |
Het |
| G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
| Gch1 |
G |
A |
14: 47,393,380 (GRCm39) |
H201Y |
probably damaging |
Het |
| Grik2 |
A |
T |
10: 49,116,890 (GRCm39) |
S624T |
probably damaging |
Het |
| Grm5 |
T |
A |
7: 87,685,382 (GRCm39) |
S500T |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,485,526 (GRCm39) |
I4359F |
probably damaging |
Het |
| Hrc |
T |
A |
7: 44,985,477 (GRCm39) |
H209Q |
possibly damaging |
Het |
| Hsd17b14 |
T |
C |
7: 45,215,395 (GRCm39) |
M164T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,307,476 (GRCm39) |
F3952L |
possibly damaging |
Het |
| Kti12 |
A |
C |
4: 108,705,443 (GRCm39) |
E119A |
probably benign |
Het |
| Kti12 |
G |
T |
4: 108,705,444 (GRCm39) |
E119D |
probably benign |
Het |
| Lig4 |
A |
T |
8: 10,023,629 (GRCm39) |
H50Q |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,497,513 (GRCm39) |
R165S |
probably damaging |
Het |
| Muc4 |
A |
G |
16: 32,592,011 (GRCm39) |
T958A |
|
Het |
| Myo19 |
A |
G |
11: 84,791,046 (GRCm39) |
E419G |
probably damaging |
Het |
| Ndufa5 |
A |
G |
6: 24,527,291 (GRCm39) |
V16A |
possibly damaging |
Het |
| Or10a2 |
T |
C |
7: 106,673,496 (GRCm39) |
F154L |
probably benign |
Het |
| Phf24 |
A |
C |
4: 42,934,774 (GRCm39) |
T137P |
probably damaging |
Het |
| Pkp4 |
A |
T |
2: 59,142,098 (GRCm39) |
N467I |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,519,536 (GRCm39) |
I99N |
probably benign |
Het |
| Rbm12b2 |
C |
T |
4: 12,095,417 (GRCm39) |
R759C |
possibly damaging |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf34 |
T |
A |
5: 122,988,288 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCAGCGGCGGC |
7: 97,229,131 (GRCm39) |
|
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,209,495 (GRCm39) |
S73T |
unknown |
Het |
| Scn4a |
T |
A |
11: 106,233,209 (GRCm39) |
E454D |
probably damaging |
Het |
| Serpina1e |
A |
G |
12: 103,917,450 (GRCm39) |
V73A |
probably benign |
Het |
| Sh3rf2 |
A |
G |
18: 42,244,487 (GRCm39) |
T350A |
probably benign |
Het |
| Slc35a1 |
A |
G |
4: 34,669,021 (GRCm39) |
V264A |
probably damaging |
Het |
| Spmip8 |
T |
A |
8: 96,039,786 (GRCm39) |
S68T |
probably benign |
Het |
| Spsb2 |
T |
C |
6: 124,786,336 (GRCm39) |
F23S |
probably benign |
Het |
| Ssx2ip |
T |
G |
3: 146,138,365 (GRCm39) |
L404R |
probably damaging |
Het |
| Strn4 |
T |
A |
7: 16,560,556 (GRCm39) |
L236Q |
probably null |
Het |
| Tcp10b |
A |
G |
17: 13,288,579 (GRCm39) |
T202A |
probably benign |
Het |
| Tdp1 |
G |
T |
12: 99,878,555 (GRCm39) |
V448L |
probably damaging |
Het |
| Tecrl |
T |
C |
5: 83,502,666 (GRCm39) |
E61G |
probably damaging |
Het |
| Trim50 |
T |
C |
5: 135,382,465 (GRCm39) |
F106L |
probably benign |
Het |
| Usp5 |
G |
T |
6: 124,801,192 (GRCm39) |
F224L |
probably benign |
Het |
| Vmn2r45 |
C |
A |
7: 8,486,513 (GRCm39) |
M258I |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 24,779,572 (GRCm39) |
V198E |
probably benign |
Het |
| Zmym4 |
A |
G |
4: 126,799,170 (GRCm39) |
I722T |
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 |
|
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 |
|
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'- AGGCTTTCATGAAAGGTGGG -3'
(R):5'- CTCTCGGCAGTAAGAAGCTAATG -3'
Sequencing Primer
(F):5'- CCACAAAGATCGTGGTGTCCATG -3'
(R):5'- GCTAATGACAGCTGGAACCTAGC -3'
|
| Posted On |
2020-08-07 |
Incidental Mutation