Incidental Mutation 'R9412:Slf2'
| ID |
711880 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf2
|
| Ensembl Gene |
ENSMUSG00000036097 |
| Gene Name |
SMC5-SMC6 complex localization factor 2 |
| Synonyms |
6030443O07Rik, Fam178a |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.910)
|
| Stock # |
R9412 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
44919590-44971738 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 44930460 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 512
(E512D)
|
| 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: E512D
PolyPhen 2
Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000093758
Gene: ENSMUSG00000036097
AA Change: E512D
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
T |
A |
8: 13,604,695 (GRCm39) |
T203S |
possibly damaging |
Het |
| 2700049A03Rik |
G |
A |
12: 71,235,457 (GRCm39) |
E1136K |
possibly damaging |
Het |
| Abca6 |
C |
A |
11: 110,103,059 (GRCm39) |
R844L |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,221,753 (GRCm39) |
R207Q |
probably benign |
Het |
| Abcd4 |
T |
C |
12: 84,655,581 (GRCm39) |
R343G |
probably damaging |
Het |
| Arhgap45 |
T |
A |
10: 79,855,564 (GRCm39) |
M1K |
probably null |
Het |
| Art3 |
A |
G |
5: 92,541,013 (GRCm39) |
Y252C |
probably damaging |
Het |
| Ascc3 |
T |
C |
10: 50,525,230 (GRCm39) |
M475T |
probably benign |
Het |
| Atxn2 |
C |
T |
5: 121,940,201 (GRCm39) |
P992L |
possibly damaging |
Het |
| Dclk3 |
G |
A |
9: 111,311,819 (GRCm39) |
|
probably null |
Het |
| Ddx21 |
T |
C |
10: 62,429,881 (GRCm39) |
T288A |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,908,703 (GRCm39) |
D2433G |
probably damaging |
Het |
| Flnc |
G |
A |
6: 29,441,484 (GRCm39) |
R422Q |
probably benign |
Het |
| Fmnl2 |
G |
T |
2: 53,007,016 (GRCm39) |
R776L |
unknown |
Het |
| Fndc1 |
T |
A |
17: 7,991,198 (GRCm39) |
T833S |
unknown |
Het |
| Igf1r |
T |
A |
7: 67,857,001 (GRCm39) |
Y988N |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,117,589 (GRCm39) |
Y711C |
probably damaging |
Het |
| Irx5 |
A |
G |
8: 93,086,351 (GRCm39) |
K145E |
probably damaging |
Het |
| Kdm5a |
A |
G |
6: 120,365,991 (GRCm39) |
Y377C |
probably damaging |
Het |
| Lrp1 |
T |
A |
10: 127,409,287 (GRCm39) |
T1611S |
probably damaging |
Het |
| Lrrc28 |
T |
A |
7: 67,181,512 (GRCm39) |
E241V |
probably damaging |
Het |
| Med23 |
T |
C |
10: 24,778,019 (GRCm39) |
F789S |
probably damaging |
Het |
| Ncapd3 |
C |
T |
9: 26,967,451 (GRCm39) |
Q596* |
probably null |
Het |
| Nrde2 |
C |
A |
12: 100,096,681 (GRCm39) |
E1040* |
probably null |
Het |
| Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
| Pcdh15 |
CAGAGA |
CAGA |
10: 74,481,663 (GRCm39) |
|
probably null |
Het |
| Pcm1 |
T |
G |
8: 41,740,788 (GRCm39) |
N972K |
probably damaging |
Het |
| Peg10 |
C |
CTCT |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Pla2g4a |
T |
C |
1: 149,755,772 (GRCm39) |
T222A |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,732,779 (GRCm39) |
K556N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,662,288 (GRCm39) |
T936A |
probably benign |
Het |
| Scap |
T |
C |
9: 110,207,673 (GRCm39) |
C461R |
possibly damaging |
Het |
| Scgb1b10 |
T |
A |
7: 31,800,627 (GRCm39) |
L72* |
probably null |
Het |
| Serpinb6c |
C |
A |
13: 34,081,371 (GRCm39) |
A93S |
probably benign |
Het |
| Serpinb9c |
C |
A |
13: 33,334,231 (GRCm39) |
L298F |
probably damaging |
Het |
| Snapc3 |
C |
T |
4: 83,354,570 (GRCm39) |
H194Y |
probably benign |
Het |
| Suox |
T |
A |
10: 128,507,758 (GRCm39) |
D90V |
possibly damaging |
Het |
| Supt20 |
TCAGCAGCAGCAGCAGCAGCAGCA |
TCAGCAGCAGCAGCAGCAGCA |
3: 54,635,069 (GRCm39) |
|
probably benign |
Het |
| Tert |
C |
T |
13: 73,797,046 (GRCm39) |
R1095W |
probably benign |
Het |
| Tut4 |
A |
T |
4: 108,414,561 (GRCm39) |
H46L |
|
Het |
| Unc13c |
T |
C |
9: 73,839,772 (GRCm39) |
I360V |
probably benign |
Het |
| Uqcc1 |
A |
G |
2: 155,693,329 (GRCm39) |
C235R |
probably benign |
Het |
| Vmn2r9 |
T |
A |
5: 108,991,484 (GRCm39) |
I626F |
probably damaging |
Het |
| Vmn2r90 |
T |
G |
17: 17,954,213 (GRCm39) |
C792W |
probably damaging |
Het |
| Zfp57 |
C |
T |
17: 37,320,814 (GRCm39) |
P223S |
probably benign |
Het |
| Zfp787 |
T |
C |
7: 6,135,946 (GRCm39) |
T102A |
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 |
|
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 |
|
|
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'- AGTGACCAAGTCCACTCAGC -3'
(R):5'- TCTTTATCTGAAGGTGCTGCAG -3'
Sequencing Primer
(F):5'- ATTAAAAGAGCTAGCAACCTTCAG -3'
(R):5'- TGCAGGGCTTGGGACACTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation