Incidental Mutation 'R7268:Slf1'
| ID |
565102 |
| 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 |
045319-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7268 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 77214826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 620
(L620P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: L620P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: L620P
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
99% (72/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl2 |
T |
C |
1: 156,461,509 (GRCm39) |
|
probably null |
Het |
| Acsf3 |
A |
G |
8: 123,517,401 (GRCm39) |
Y399C |
probably benign |
Het |
| Acsm5 |
A |
T |
7: 119,136,511 (GRCm39) |
T361S |
probably benign |
Het |
| Agap1 |
T |
G |
1: 89,694,070 (GRCm39) |
I456S |
probably benign |
Het |
| Ahnak2 |
A |
T |
12: 112,780,802 (GRCm38) |
V70E |
|
Het |
| Alb |
T |
A |
5: 90,610,575 (GRCm39) |
S52T |
probably benign |
Het |
| Ankle1 |
A |
G |
8: 71,860,189 (GRCm39) |
T256A |
probably damaging |
Het |
| Armt1 |
G |
A |
10: 4,400,855 (GRCm39) |
V201M |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,605,792 (GRCm39) |
T388A |
probably benign |
Het |
| Atp6v0a2 |
T |
C |
5: 124,796,930 (GRCm39) |
L770P |
probably damaging |
Het |
| B4galnt3 |
A |
T |
6: 120,192,003 (GRCm39) |
W578R |
possibly damaging |
Het |
| Babam2 |
T |
C |
5: 31,859,197 (GRCm39) |
S2P |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,960,090 (GRCm39) |
H1459R |
possibly damaging |
Het |
| Bbs7 |
C |
T |
3: 36,658,575 (GRCm39) |
R233Q |
probably benign |
Het |
| Cacna2d1 |
G |
A |
5: 16,575,586 (GRCm39) |
G1076R |
probably damaging |
Het |
| Camsap2 |
C |
T |
1: 136,201,483 (GRCm39) |
|
probably null |
Het |
| Car10 |
A |
G |
11: 93,490,077 (GRCm39) |
N273D |
probably benign |
Het |
| Ccdc66 |
T |
C |
14: 27,208,880 (GRCm39) |
D458G |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,607,633 (GRCm39) |
H982L |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,246,479 (GRCm39) |
K386E |
possibly damaging |
Het |
| Ctcfl |
A |
G |
2: 172,949,588 (GRCm39) |
I415T |
probably benign |
Het |
| Cyp3a16 |
G |
C |
5: 145,404,280 (GRCm39) |
Y54* |
probably null |
Het |
| Dact2 |
T |
C |
17: 14,416,797 (GRCm39) |
T468A |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,197,554 (GRCm39) |
L355* |
probably null |
Het |
| Dhx40 |
A |
T |
11: 86,697,442 (GRCm39) |
C42S |
possibly damaging |
Het |
| Dnaaf9 |
C |
A |
2: 130,648,708 (GRCm39) |
R258L |
unknown |
Het |
| Dop1a |
G |
T |
9: 86,394,830 (GRCm39) |
E637* |
probably null |
Het |
| Dpp4 |
G |
T |
2: 62,178,186 (GRCm39) |
P649T |
probably damaging |
Het |
| Eri3 |
T |
A |
4: 117,506,580 (GRCm39) |
I303K |
probably benign |
Het |
| Foxi1 |
A |
T |
11: 34,155,783 (GRCm39) |
Y282* |
probably null |
Het |
| Gdi2 |
T |
A |
13: 3,606,363 (GRCm39) |
Y146* |
probably null |
Het |
| Gns |
A |
G |
10: 121,212,557 (GRCm39) |
Y173C |
probably damaging |
Het |
| Gpc1 |
C |
A |
1: 92,786,093 (GRCm39) |
P494Q |
possibly damaging |
Het |
| Habp2 |
G |
T |
19: 56,302,518 (GRCm39) |
G274V |
probably damaging |
Het |
| Hcfc2 |
T |
A |
10: 82,544,846 (GRCm39) |
Y159* |
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,347,978 (GRCm39) |
S4875T |
possibly damaging |
Het |
| Hmgcs2 |
A |
G |
3: 98,204,796 (GRCm39) |
N318S |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,758,803 (GRCm39) |
M847K |
probably benign |
Het |
| Mmp16 |
A |
C |
4: 18,093,366 (GRCm39) |
M374L |
probably benign |
Het |
| Mrpl38 |
A |
G |
11: 116,029,396 (GRCm39) |
I40T |
possibly damaging |
Het |
| Ncstn |
T |
C |
1: 171,908,830 (GRCm39) |
T46A |
possibly damaging |
Het |
| Nlrp1a |
C |
T |
11: 71,015,068 (GRCm39) |
V61I |
probably benign |
Het |
| Npas2 |
G |
T |
1: 39,326,658 (GRCm39) |
V48L |
probably damaging |
Het |
| Or13p5 |
A |
G |
4: 118,592,605 (GRCm39) |
Y293C |
probably damaging |
Het |
| Or52ac1 |
G |
A |
7: 104,246,284 (GRCm39) |
L35F |
probably benign |
Het |
| Or6c6 |
C |
T |
10: 129,187,263 (GRCm39) |
T277I |
possibly damaging |
Het |
| Pcyox1 |
A |
T |
6: 86,368,713 (GRCm39) |
N268K |
possibly damaging |
Het |
| Pramel14 |
A |
T |
4: 143,720,090 (GRCm39) |
|
probably null |
Het |
| Prr27 |
T |
C |
5: 87,991,135 (GRCm39) |
L249P |
probably damaging |
Het |
| Psat1 |
A |
T |
19: 15,894,508 (GRCm39) |
V168D |
probably damaging |
Het |
| Psg17 |
G |
T |
7: 18,548,586 (GRCm39) |
T395K |
possibly damaging |
Het |
| Ptgis |
A |
G |
2: 167,048,676 (GRCm39) |
Y447H |
probably benign |
Het |
| Rad50 |
T |
A |
11: 53,575,102 (GRCm39) |
N607I |
probably benign |
Het |
| Rps6ka2 |
T |
C |
17: 7,562,662 (GRCm39) |
Y602H |
possibly damaging |
Het |
| Senp6 |
G |
A |
9: 80,049,406 (GRCm39) |
R1010H |
probably damaging |
Het |
| Slc8a3 |
C |
A |
12: 81,361,827 (GRCm39) |
D331Y |
probably damaging |
Het |
| Slc9c1 |
G |
A |
16: 45,370,479 (GRCm39) |
S240N |
probably damaging |
Het |
| Snx19 |
A |
G |
9: 30,351,473 (GRCm39) |
E847G |
probably damaging |
Het |
| Spaca6 |
T |
C |
17: 18,052,369 (GRCm39) |
V103A |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,404 (GRCm39) |
Y591H |
probably benign |
Het |
| Tchh |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC |
3: 93,354,015 (GRCm39) |
|
probably benign |
Het |
| Tfap2a |
G |
A |
13: 40,882,236 (GRCm39) |
T15I |
possibly damaging |
Het |
| Tgm2 |
G |
A |
2: 157,962,188 (GRCm39) |
R544* |
probably null |
Het |
| Tmem116 |
T |
A |
5: 121,605,918 (GRCm39) |
I90K |
|
Het |
| Tmem30c |
A |
C |
16: 57,086,777 (GRCm39) |
L342R |
probably damaging |
Het |
| Trpm6 |
C |
T |
19: 18,755,949 (GRCm39) |
T64I |
probably benign |
Het |
| Ttll8 |
A |
G |
15: 88,819,159 (GRCm39) |
|
probably null |
Het |
| Vcpip1 |
A |
G |
1: 9,816,307 (GRCm39) |
I692T |
probably damaging |
Het |
| Vmn1r169 |
T |
G |
7: 23,276,853 (GRCm39) |
F82V |
probably benign |
Het |
| Vmn1r178 |
G |
A |
7: 23,593,378 (GRCm39) |
C142Y |
probably benign |
Het |
| Vmn2r16 |
T |
A |
5: 109,488,331 (GRCm39) |
Y401* |
probably null |
Het |
| Wdr91 |
A |
G |
6: 34,869,375 (GRCm39) |
V383A |
probably benign |
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 |
|
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 |
|
|
R9286:Slf1
|
UTSW |
13 |
77,191,932 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- GGGAGCATTATAGAATTTCCCATTCC -3'
(R):5'- CAGATTTCCAGCATTGTGGTG -3'
Sequencing Primer
(F):5'- CTGAAGAATAGACCACTTAAAGGTAC -3'
(R):5'- CCAGCATTGTGGTGTATGTAATGAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation