Incidental Mutation 'R1590:Slf2'
ID |
177837 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Slf2
|
Ensembl Gene |
ENSMUSG00000036097 |
Gene Name |
SMC5-SMC6 complex localization factor 2 |
Synonyms |
6030443O07Rik, Fam178a |
MMRRC Submission |
039627-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.910)
|
Stock # |
R1590 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 44930512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 530
(E530*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093758
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000096053]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083225
|
Predicted Effect |
probably null
Transcript: ENSMUST00000096053
AA Change: E530*
|
SMART Domains |
Protein: ENSMUSP00000093758 Gene: ENSMUSG00000036097 AA Change: E530*
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.4%
|
Validation Efficiency |
97% (69/71) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aamp |
A |
G |
1: 74,322,370 (GRCm39) |
S95P |
probably damaging |
Het |
Ankmy1 |
T |
C |
1: 92,816,397 (GRCm39) |
Y239C |
probably damaging |
Het |
Atp12a |
T |
C |
14: 56,617,512 (GRCm39) |
S601P |
probably damaging |
Het |
Atp1b3 |
T |
C |
9: 96,225,402 (GRCm39) |
T89A |
probably benign |
Het |
B3galt4 |
G |
A |
17: 34,169,813 (GRCm39) |
R142C |
probably damaging |
Het |
Brme1 |
A |
T |
8: 84,893,715 (GRCm39) |
Q294L |
probably benign |
Het |
Btnl2 |
A |
T |
17: 34,580,114 (GRCm39) |
I216F |
possibly damaging |
Het |
Cabs1 |
A |
T |
5: 88,127,490 (GRCm39) |
H47L |
probably damaging |
Het |
Ccdc68 |
T |
A |
18: 70,073,251 (GRCm39) |
D66E |
probably benign |
Het |
Cdc42ep4 |
T |
C |
11: 113,619,392 (GRCm39) |
D333G |
possibly damaging |
Het |
Ckmt1 |
G |
A |
2: 121,194,003 (GRCm39) |
D389N |
possibly damaging |
Het |
Dact1 |
G |
T |
12: 71,364,349 (GRCm39) |
V340F |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,412,024 (GRCm39) |
T246A |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,313,580 (GRCm39) |
|
probably null |
Het |
Ecm1 |
G |
A |
3: 95,643,275 (GRCm39) |
R342C |
probably damaging |
Het |
Efcab14 |
A |
G |
4: 115,613,746 (GRCm39) |
|
probably benign |
Het |
Eprs1 |
A |
G |
1: 185,133,707 (GRCm39) |
T795A |
probably damaging |
Het |
Esp36 |
T |
A |
17: 38,728,202 (GRCm39) |
E26D |
possibly damaging |
Het |
Fpr-rs7 |
T |
C |
17: 20,333,678 (GRCm39) |
T271A |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,813,131 (GRCm39) |
H3150L |
probably benign |
Het |
Gimap7 |
G |
A |
6: 48,700,953 (GRCm39) |
V180M |
probably damaging |
Het |
Gtf3c1 |
T |
C |
7: 125,275,833 (GRCm39) |
H531R |
possibly damaging |
Het |
Herc1 |
T |
A |
9: 66,399,235 (GRCm39) |
|
probably benign |
Het |
Hip1r |
A |
G |
5: 124,140,203 (GRCm39) |
Y1061C |
probably benign |
Het |
Ipo11 |
T |
C |
13: 107,023,225 (GRCm39) |
Y420C |
probably damaging |
Het |
Ipo8 |
T |
C |
6: 148,712,163 (GRCm39) |
|
probably null |
Het |
Itga10 |
C |
T |
3: 96,559,054 (GRCm39) |
|
probably benign |
Het |
Klhl1 |
A |
T |
14: 96,606,072 (GRCm39) |
M243K |
probably damaging |
Het |
Lrp2 |
A |
G |
2: 69,297,107 (GRCm39) |
|
probably null |
Het |
Mag |
T |
C |
7: 30,601,277 (GRCm39) |
E439G |
probably damaging |
Het |
Mcm3ap |
T |
A |
10: 76,332,375 (GRCm39) |
F1231I |
probably benign |
Het |
Mcmdc2 |
C |
T |
1: 9,986,780 (GRCm39) |
Q204* |
probably null |
Het |
Mpl |
A |
C |
4: 118,301,221 (GRCm39) |
L548R |
probably damaging |
Het |
Mrps2 |
C |
T |
2: 28,359,500 (GRCm39) |
A119V |
probably benign |
Het |
Myo18b |
G |
A |
5: 113,023,132 (GRCm39) |
Q87* |
probably null |
Het |
Nfat5 |
A |
G |
8: 108,020,522 (GRCm39) |
Y22C |
probably damaging |
Het |
Nnt |
T |
A |
13: 119,523,197 (GRCm39) |
I232L |
possibly damaging |
Het |
Or2a52 |
A |
G |
6: 43,144,846 (GRCm39) |
N285D |
probably damaging |
Het |
Or8g17 |
T |
C |
9: 38,930,253 (GRCm39) |
N195D |
probably benign |
Het |
Or9s13 |
G |
A |
1: 92,548,467 (GRCm39) |
V280M |
possibly damaging |
Het |
Parp2 |
C |
T |
14: 51,048,001 (GRCm39) |
P76S |
probably benign |
Het |
Pick1 |
C |
T |
15: 79,129,501 (GRCm39) |
H169Y |
probably benign |
Het |
Prtg |
T |
A |
9: 72,750,089 (GRCm39) |
F164L |
probably benign |
Het |
Pygb |
A |
G |
2: 150,659,583 (GRCm39) |
D422G |
possibly damaging |
Het |
Samd9l |
C |
A |
6: 3,375,761 (GRCm39) |
C500F |
probably benign |
Het |
Sbno1 |
A |
C |
5: 124,522,567 (GRCm39) |
N1083K |
possibly damaging |
Het |
Septin7 |
C |
T |
9: 25,188,900 (GRCm39) |
S77F |
probably damaging |
Het |
Slc25a44 |
A |
G |
3: 88,323,314 (GRCm39) |
V264A |
possibly damaging |
Het |
Slco1a8 |
C |
T |
6: 141,926,598 (GRCm39) |
S576N |
probably benign |
Het |
Svs5 |
A |
G |
2: 164,079,578 (GRCm39) |
S110P |
possibly damaging |
Het |
Tmbim7 |
G |
T |
5: 3,715,338 (GRCm39) |
|
probably null |
Het |
Tpgs2 |
T |
C |
18: 25,273,630 (GRCm39) |
D177G |
probably damaging |
Het |
Uba1y |
T |
A |
Y: 826,893 (GRCm39) |
F516L |
probably damaging |
Het |
Ulk1 |
A |
G |
5: 110,943,632 (GRCm39) |
V211A |
probably damaging |
Het |
Vmn1r237 |
T |
A |
17: 21,534,301 (GRCm39) |
I8N |
probably damaging |
Het |
Vmn2r103 |
G |
T |
17: 20,014,496 (GRCm39) |
M429I |
probably benign |
Het |
Vmn2r112 |
T |
C |
17: 22,833,989 (GRCm39) |
|
probably null |
Het |
Vmn2r84 |
T |
C |
10: 130,227,349 (GRCm39) |
|
probably null |
Het |
Vwa8 |
C |
T |
14: 79,145,670 (GRCm39) |
R116C |
probably damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGAATAGTGACCAAGTCCACTCAGC -3'
(R):5'- ACTGGGATCTAAGCCCCTTGGAAAC -3'
Sequencing Primer
(F):5'- CTGGCTCTGTGACATCAAAAG -3'
(R):5'- TCCGACTGAAGTTCAGAGCC -3'
|
Posted On |
2014-04-24 |