Incidental Mutation 'R9286:Slf1'
| ID |
703934 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf1
|
| Ensembl Gene |
ENSMUSG00000021597 |
| Gene Name |
SMC5-SMC6 complex localization factor 1 |
| Synonyms |
Brctx, C730024G01Rik, Ankrd32, Brctd1, 2700017A04Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77191932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 967
(D967E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: D967E
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: D967E
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
BRCT
|
121 |
199 |
2.12e1 |
SMART |
|
low complexity region
|
260 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
541 |
N/A |
INTRINSIC |
|
low complexity region
|
765 |
785 |
N/A |
INTRINSIC |
|
ANK
|
802 |
832 |
1.52e0 |
SMART |
|
ANK
|
836 |
865 |
4.32e-5 |
SMART |
|
ANK
|
870 |
900 |
2.07e-2 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice are developmentally normal and fertile with no pathological abnormalities or defects in T-cell development and genomic stability. Mutant MEFs grow at a normal rate and are not more sensitive to DNA-damaging agents while thymocytes donot show any major cell cycle defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
G |
C |
15: 91,058,827 (GRCm39) |
P539R |
possibly damaging |
Het |
| Adgrl3 |
A |
T |
5: 81,794,413 (GRCm39) |
D478V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,594,520 (GRCm39) |
Y4165N |
probably damaging |
Het |
| Ago2 |
A |
G |
15: 72,997,065 (GRCm39) |
L326P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,119,254 (GRCm39) |
K1107T |
possibly damaging |
Het |
| Ank2 |
C |
T |
3: 126,846,381 (GRCm39) |
A205T |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,326,869 (GRCm39) |
V738A |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,150 (GRCm39) |
K291R |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,288,845 (GRCm39) |
P1847T |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cps1 |
T |
G |
1: 67,198,030 (GRCm39) |
M365R |
probably damaging |
Het |
| Ctc1 |
T |
G |
11: 68,917,180 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
G |
T |
7: 25,616,391 (GRCm39) |
G333C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,443,403 (GRCm39) |
E455G |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,786,922 (GRCm39) |
D539E |
possibly damaging |
Het |
| Dip2a |
T |
A |
10: 76,138,096 (GRCm39) |
Y370F |
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,672,099 (GRCm39) |
E134K |
possibly damaging |
Het |
| Dync2h1 |
C |
T |
9: 6,941,668 (GRCm39) |
A4164T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,696 (GRCm39) |
Y558C |
|
Het |
| Eif3b |
A |
G |
5: 140,411,064 (GRCm39) |
I172V |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,873,414 (GRCm38) |
F237L |
probably damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,647,639 (GRCm39) |
I429V |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,315 (GRCm39) |
Y151C |
|
Het |
| Gys2 |
C |
A |
6: 142,376,037 (GRCm39) |
V542L |
possibly damaging |
Het |
| Hmx1 |
A |
G |
5: 35,546,776 (GRCm39) |
T106A |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,517,604 (GRCm39) |
V268A |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,387,720 (GRCm39) |
T543A |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,752,148 (GRCm39) |
|
probably null |
Het |
| Larp7 |
CCTTCTT |
CCTT |
3: 127,340,008 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,740,844 (GRCm39) |
F449L |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,712 (GRCm39) |
E229G |
probably damaging |
Het |
| Loxl4 |
A |
T |
19: 42,586,047 (GRCm39) |
V699E |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,273,609 (GRCm39) |
D489G |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,060,573 (GRCm39) |
H748L |
probably benign |
Het |
| Nudcd2 |
T |
A |
11: 40,627,403 (GRCm39) |
Y108N |
probably damaging |
Het |
| Or10g1 |
G |
A |
14: 52,648,075 (GRCm39) |
R85* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,985,971 (GRCm39) |
C317W |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,479,791 (GRCm39) |
I28N |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,422 (GRCm39) |
V404E |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,607,183 (GRCm39) |
D2084G |
probably damaging |
Het |
| Phf20 |
A |
T |
2: 156,134,470 (GRCm39) |
K552M |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,331,976 (GRCm39) |
D854G |
probably benign |
Het |
| Psen1 |
A |
G |
12: 83,775,549 (GRCm39) |
N316D |
probably benign |
Het |
| Rabgap1l |
G |
A |
1: 160,051,818 (GRCm39) |
Q361* |
probably null |
Het |
| Ralb |
A |
T |
1: 119,399,544 (GRCm39) |
D171E |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,682,947 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,995,849 (GRCm39) |
K211E |
probably benign |
Het |
| Scg2 |
A |
G |
1: 79,413,653 (GRCm39) |
S357P |
probably damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,445,566 (GRCm39) |
W456R |
probably damaging |
Het |
| Spryd3 |
A |
T |
15: 102,041,869 (GRCm39) |
V51E |
possibly damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,563 (GRCm39) |
H187R |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,643 (GRCm39) |
E348G |
probably damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,332 (GRCm39) |
I123T |
probably damaging |
Het |
| Tonsl |
G |
A |
15: 76,515,213 (GRCm39) |
H1058Y |
probably damaging |
Het |
| Trav13d-1 |
A |
G |
14: 53,089,050 (GRCm39) |
K20E |
probably benign |
Het |
| Trpm2 |
C |
A |
10: 77,777,014 (GRCm39) |
V428L |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,904,864 (GRCm39) |
Y810C |
probably damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,692,079 (GRCm39) |
F299I |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,499,175 (GRCm39) |
F430L |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,203 (GRCm39) |
V3462I |
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,521,683 (GRCm39) |
I384T |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,783,812 (GRCm39) |
D1138G |
probably damaging |
Het |
|
| Other mutations in Slf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Slf1
|
APN |
13 |
77,192,066 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01105:Slf1
|
APN |
13 |
77,249,031 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01108:Slf1
|
APN |
13 |
77,273,594 (GRCm39) |
splice site |
probably benign |
|
|
IGL01149:Slf1
|
APN |
13 |
77,260,767 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01642:Slf1
|
APN |
13 |
77,198,034 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01757:Slf1
|
APN |
13 |
77,232,559 (GRCm39) |
missense |
probably benign |
|
|
IGL01887:Slf1
|
APN |
13 |
77,249,101 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02323:Slf1
|
APN |
13 |
77,199,413 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02861:Slf1
|
APN |
13 |
77,274,478 (GRCm39) |
splice site |
probably benign |
|
|
IGL02971:Slf1
|
APN |
13 |
77,195,223 (GRCm39) |
splice site |
probably benign |
|
|
IGL03088:Slf1
|
APN |
13 |
77,232,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03215:Slf1
|
APN |
13 |
77,198,096 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02980:Slf1
|
UTSW |
13 |
77,192,123 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
PIT1430001:Slf1
|
UTSW |
13 |
77,198,169 (GRCm39) |
splice site |
probably benign |
|
|
R0036:Slf1
|
UTSW |
13 |
77,249,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0036:Slf1
|
UTSW |
13 |
77,249,070 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0125:Slf1
|
UTSW |
13 |
77,191,864 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0230:Slf1
|
UTSW |
13 |
77,260,867 (GRCm39) |
intron |
probably benign |
|
|
R0244:Slf1
|
UTSW |
13 |
77,274,751 (GRCm39) |
nonsense |
probably null |
|
|
R0395:Slf1
|
UTSW |
13 |
77,254,088 (GRCm39) |
splice site |
probably benign |
|
|
R0614:Slf1
|
UTSW |
13 |
77,197,233 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0661:Slf1
|
UTSW |
13 |
77,231,715 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0837:Slf1
|
UTSW |
13 |
77,249,067 (GRCm39) |
splice site |
probably null |
|
|
R0945:Slf1
|
UTSW |
13 |
77,251,590 (GRCm39) |
unclassified |
probably benign |
|
|
R1282:Slf1
|
UTSW |
13 |
77,191,959 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1365:Slf1
|
UTSW |
13 |
77,274,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1449:Slf1
|
UTSW |
13 |
77,231,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1646:Slf1
|
UTSW |
13 |
77,214,767 (GRCm39) |
nonsense |
probably null |
|
|
R2071:Slf1
|
UTSW |
13 |
77,252,743 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2141:Slf1
|
UTSW |
13 |
77,197,338 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2217:Slf1
|
UTSW |
13 |
77,194,825 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2397:Slf1
|
UTSW |
13 |
77,251,702 (GRCm39) |
nonsense |
probably null |
|
|
R2520:Slf1
|
UTSW |
13 |
77,199,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3108:Slf1
|
UTSW |
13 |
77,274,840 (GRCm39) |
splice site |
probably benign |
|
|
R4178:Slf1
|
UTSW |
13 |
77,191,688 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4663:Slf1
|
UTSW |
13 |
77,274,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4730:Slf1
|
UTSW |
13 |
77,194,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4910:Slf1
|
UTSW |
13 |
77,191,999 (GRCm39) |
missense |
probably benign |
0.14 |
|
R4912:Slf1
|
UTSW |
13 |
77,199,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5122:Slf1
|
UTSW |
13 |
77,198,106 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5269:Slf1
|
UTSW |
13 |
77,252,700 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5336:Slf1
|
UTSW |
13 |
77,254,129 (GRCm39) |
makesense |
probably null |
|
|
R5346:Slf1
|
UTSW |
13 |
77,240,490 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5445:Slf1
|
UTSW |
13 |
77,239,323 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5568:Slf1
|
UTSW |
13 |
77,194,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5622:Slf1
|
UTSW |
13 |
77,198,090 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5685:Slf1
|
UTSW |
13 |
77,231,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5792:Slf1
|
UTSW |
13 |
77,214,856 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5856:Slf1
|
UTSW |
13 |
77,254,206 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6109:Slf1
|
UTSW |
13 |
77,274,799 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6245:Slf1
|
UTSW |
13 |
77,232,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6338:Slf1
|
UTSW |
13 |
77,232,581 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6438:Slf1
|
UTSW |
13 |
77,214,725 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6487:Slf1
|
UTSW |
13 |
77,214,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Slf1
|
UTSW |
13 |
77,197,248 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6600:Slf1
|
UTSW |
13 |
77,231,655 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6661:Slf1
|
UTSW |
13 |
77,191,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7268:Slf1
|
UTSW |
13 |
77,214,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7308:Slf1
|
UTSW |
13 |
77,199,287 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7355:Slf1
|
UTSW |
13 |
77,239,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7546:Slf1
|
UTSW |
13 |
77,197,311 (GRCm39) |
missense |
probably benign |
|
|
R7807:Slf1
|
UTSW |
13 |
77,194,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Slf1
|
UTSW |
13 |
77,260,790 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8385:Slf1
|
UTSW |
13 |
77,254,109 (GRCm39) |
missense |
probably benign |
|
|
R8698:Slf1
|
UTSW |
13 |
77,197,284 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8770:Slf1
|
UTSW |
13 |
77,194,766 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8786:Slf1
|
UTSW |
13 |
77,274,806 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R8796:Slf1
|
UTSW |
13 |
77,214,784 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8932:Slf1
|
UTSW |
13 |
77,194,693 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9132:Slf1
|
UTSW |
13 |
77,249,073 (GRCm39) |
missense |
probably benign |
0.24 |
|
R9243:Slf1
|
UTSW |
13 |
77,273,575 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9274:Slf1
|
UTSW |
13 |
77,191,669 (GRCm39) |
makesense |
probably null |
|
|
R9416:Slf1
|
UTSW |
13 |
77,194,656 (GRCm39) |
missense |
|
|
|
R9612:Slf1
|
UTSW |
13 |
77,197,204 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0018:Slf1
|
UTSW |
13 |
77,199,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCAGTAAGGCCTCAGTATGC -3'
(R):5'- GCCCTTGGATTATGTGCTGTCC -3'
Sequencing Primer
(F):5'- GTAAGGCCTCAGTATGCACTCCAG -3'
(R):5'- ATTATGTGCTGTCCCCTAAGG -3'
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| Posted On |
2022-03-25 |
Incidental Mutation