Incidental Mutation 'IGL01734:Slf2'
| ID |
105649 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
6030443O07Rik, Fam178a |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.904)
|
| Stock # |
IGL01734
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 44961706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093758
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096053]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000096053
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932442E05Rik |
T |
A |
10: 118,697,371 (GRCm39) |
W210R |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,659,217 (GRCm39) |
M77T |
probably benign |
Het |
| Aox1 |
A |
T |
1: 58,393,469 (GRCm39) |
I1210F |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,747,858 (GRCm39) |
|
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,139,292 (GRCm39) |
D3307G |
probably benign |
Het |
| Chsy1 |
T |
C |
7: 65,821,058 (GRCm39) |
I431T |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,204,980 (GRCm39) |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,158,134 (GRCm39) |
D308G |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 48,048,700 (GRCm39) |
Y568H |
probably damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,599,947 (GRCm39) |
I264T |
probably damaging |
Het |
| Dusp22 |
G |
T |
13: 30,880,235 (GRCm39) |
C52F |
probably damaging |
Het |
| Fbxw22 |
A |
C |
9: 109,212,993 (GRCm39) |
M318R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,102,295 (GRCm39) |
T310M |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,658,644 (GRCm39) |
V1138A |
probably damaging |
Het |
| Glt6d1 |
T |
A |
2: 25,684,505 (GRCm39) |
Y167F |
probably benign |
Het |
| Hydin |
T |
A |
8: 111,217,421 (GRCm39) |
Y1436* |
probably null |
Het |
| Il12a |
G |
A |
3: 68,598,888 (GRCm39) |
C2Y |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,034,006 (GRCm39) |
Y38H |
possibly damaging |
Het |
| Jmy |
A |
C |
13: 93,596,159 (GRCm39) |
L490R |
probably damaging |
Het |
| Kif26a |
T |
A |
12: 112,143,262 (GRCm39) |
L1172H |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,482,668 (GRCm39) |
M331L |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,923,026 (GRCm39) |
T627M |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 115,950,331 (GRCm39) |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,874,123 (GRCm39) |
S1556R |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,976,408 (GRCm39) |
N490S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,614,158 (GRCm39) |
D164G |
probably damaging |
Het |
| Nap1l1 |
A |
G |
10: 111,328,760 (GRCm39) |
T230A |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,338,741 (GRCm39) |
A913S |
probably damaging |
Het |
| Nudt16 |
G |
T |
9: 105,008,707 (GRCm39) |
Q65K |
probably benign |
Het |
| Or1e23 |
C |
A |
11: 73,407,462 (GRCm39) |
A188S |
probably benign |
Het |
| Or5ac17 |
T |
G |
16: 59,036,792 (GRCm39) |
L61F |
probably benign |
Het |
| Or5ac19 |
T |
A |
16: 59,089,213 (GRCm39) |
K272N |
probably benign |
Het |
| Or5al5 |
T |
A |
2: 85,962,012 (GRCm39) |
|
probably benign |
Het |
| Or6c76b |
T |
A |
10: 129,692,671 (GRCm39) |
C95S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,678,970 (GRCm39) |
F333L |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,115,124 (GRCm39) |
Q1422K |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,620,836 (GRCm39) |
E494G |
probably damaging |
Het |
| Prss42 |
C |
A |
9: 110,627,411 (GRCm39) |
P49Q |
probably benign |
Het |
| Ptpra |
C |
T |
2: 130,385,997 (GRCm39) |
T568I |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,242,294 (GRCm39) |
D71G |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,542,782 (GRCm39) |
S193T |
probably damaging |
Het |
| Spinkl |
T |
A |
18: 44,307,639 (GRCm39) |
K7N |
possibly damaging |
Het |
| Tbk1 |
G |
A |
10: 121,407,888 (GRCm39) |
R82* |
probably null |
Het |
| Tcf12 |
T |
C |
9: 71,829,930 (GRCm39) |
|
probably null |
Het |
| Tcl1b5 |
G |
A |
12: 105,145,214 (GRCm39) |
M59I |
probably benign |
Het |
| Thumpd3 |
C |
A |
6: 113,043,806 (GRCm39) |
T407K |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,505,031 (GRCm39) |
V233A |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,469,192 (GRCm39) |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 40,937,543 (GRCm39) |
|
probably benign |
Het |
| Ugdh |
G |
T |
5: 65,580,031 (GRCm39) |
T253K |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 109,671,416 (GRCm39) |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,831,563 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Slf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation