Incidental Mutation 'R8796:Slf1'
| ID |
671276 |
| 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 |
068637-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8796 (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 T
at 77214784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 634
(M634K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: M634K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: M634K
| 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: 99.2%
|
| Validation Efficiency |
96% (51/53) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
A |
T |
18: 6,629,482 (GRCm39) |
T182S |
possibly damaging |
Het |
| Abca12 |
A |
C |
1: 71,297,248 (GRCm39) |
|
probably benign |
Het |
| Aco1 |
T |
A |
4: 40,179,037 (GRCm39) |
D345E |
probably benign |
Het |
| Acp6 |
T |
C |
3: 97,066,509 (GRCm39) |
V9A |
probably benign |
Het |
| Akap1 |
A |
C |
11: 88,730,498 (GRCm39) |
I597S |
probably damaging |
Het |
| B4galnt4 |
C |
T |
7: 140,647,488 (GRCm39) |
T385I |
probably damaging |
Het |
| Bbof1 |
A |
T |
12: 84,460,068 (GRCm39) |
T112S |
possibly damaging |
Het |
| Chd7 |
C |
A |
4: 8,838,691 (GRCm39) |
H1297N |
probably damaging |
Het |
| Cldn15 |
T |
C |
5: 137,003,351 (GRCm39) |
F147L |
probably damaging |
Het |
| Coq7 |
C |
T |
7: 118,126,640 (GRCm39) |
E143K |
probably damaging |
Het |
| Ctnnb1 |
A |
G |
9: 120,784,498 (GRCm39) |
N430S |
probably damaging |
Het |
| Cxcl12 |
G |
T |
6: 117,155,553 (GRCm39) |
K92N |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,359,026 (GRCm39) |
F95S |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,255,850 (GRCm39) |
H480L |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,165,320 (GRCm39) |
C14Y |
probably damaging |
Het |
| Gja5 |
A |
G |
3: 96,958,419 (GRCm39) |
I159V |
possibly damaging |
Het |
| Herc2 |
A |
T |
7: 55,785,123 (GRCm39) |
Q1487L |
probably benign |
Het |
| Hipk2 |
T |
A |
6: 38,675,158 (GRCm39) |
Q1168L |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,054,020 (GRCm39) |
Y214F |
probably damaging |
Het |
| Kif5b |
T |
C |
18: 6,226,965 (GRCm39) |
K98E |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,117,146 (GRCm39) |
N2480K |
|
Het |
| Lrp1b |
A |
G |
2: 40,793,426 (GRCm39) |
C2610R |
|
Het |
| Mast4 |
T |
C |
13: 102,919,899 (GRCm39) |
Y536C |
probably benign |
Het |
| Ntrk1 |
A |
G |
3: 87,690,422 (GRCm39) |
S407P |
probably benign |
Het |
| Ogdh |
T |
A |
11: 6,297,129 (GRCm39) |
M527K |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,201 (GRCm39) |
V182A |
|
Het |
| Or5m9b |
G |
A |
2: 85,905,518 (GRCm39) |
V145M |
possibly damaging |
Het |
| Plxdc1 |
A |
G |
11: 97,847,407 (GRCm39) |
S89P |
probably benign |
Het |
| Prdm2 |
A |
G |
4: 142,860,017 (GRCm39) |
I1091T |
probably benign |
Het |
| Psg16 |
C |
A |
7: 16,827,814 (GRCm39) |
H166N |
possibly damaging |
Het |
| Qrfpr |
T |
A |
3: 36,234,345 (GRCm39) |
Y332F |
probably damaging |
Het |
| Rab31 |
A |
T |
17: 66,079,529 (GRCm39) |
I4K |
possibly damaging |
Het |
| Ranbp10 |
C |
A |
8: 106,499,665 (GRCm39) |
|
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,038,685 (GRCm39) |
S453G |
|
Het |
| Rxfp2 |
C |
T |
5: 149,942,262 (GRCm39) |
|
probably benign |
Het |
| S100a8 |
A |
G |
3: 90,576,865 (GRCm39) |
E6G |
probably damaging |
Het |
| Sart1 |
T |
C |
19: 5,438,376 (GRCm39) |
K94E |
probably damaging |
Het |
| Sema4d |
A |
T |
13: 51,865,546 (GRCm39) |
F297I |
probably damaging |
Het |
| Sgk2 |
A |
G |
2: 162,848,723 (GRCm39) |
K287E |
probably damaging |
Het |
| Sgsm1 |
T |
A |
5: 113,411,123 (GRCm39) |
T868S |
probably benign |
Het |
| Skint6 |
G |
T |
4: 112,661,891 (GRCm39) |
T1231K |
possibly damaging |
Het |
| Slc35b3 |
C |
T |
13: 39,121,722 (GRCm39) |
|
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,460,190 (GRCm39) |
D1424G |
probably benign |
Het |
| Snx21 |
G |
A |
2: 164,628,749 (GRCm39) |
V131I |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,945,848 (GRCm39) |
V516A |
probably benign |
Het |
| Tas2r120 |
A |
T |
6: 132,634,081 (GRCm39) |
R54S |
probably damaging |
Het |
| Tmem109 |
A |
T |
19: 10,849,995 (GRCm39) |
L99Q |
probably damaging |
Het |
| Tnfrsf1b |
A |
G |
4: 144,946,485 (GRCm39) |
S309P |
possibly damaging |
Het |
| Trav11 |
C |
T |
14: 53,757,227 (GRCm39) |
A85V |
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,434 (GRCm39) |
R267H |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,653,314 (GRCm39) |
R12631C |
possibly damaging |
Het |
| Vmn2r10 |
T |
A |
5: 109,143,917 (GRCm39) |
T678S |
possibly damaging |
Het |
| Vmn2r124 |
T |
C |
17: 18,282,933 (GRCm39) |
M209T |
possibly damaging |
Het |
| Vmn2r24 |
A |
T |
6: 123,757,500 (GRCm39) |
M123L |
probably benign |
Het |
| Wdr41 |
T |
G |
13: 95,151,575 (GRCm39) |
L245R |
possibly damaging |
Het |
| Wwp2 |
G |
T |
8: 108,283,189 (GRCm39) |
G814W |
probably null |
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 |
|
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'- GGAGCATTATAGAATTTCCCATTCC -3'
(R):5'- CCAGCATTGTGGTGTATGTAATGAG -3'
Sequencing Primer
(F):5'- ATTGCTTCTGCGTATTATTTCAAAG -3'
(R):5'- AGTCATTGAACTCTCAAAATGGTTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation