Incidental Mutation 'R4730:Slf1'
| ID |
358783 |
| 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 |
041990-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4730 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 77194751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 858
(Q858R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: Q858R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: Q858R
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162005
|
| Meta Mutation Damage Score |
0.0768 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (70/71) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff1 |
A |
G |
5: 103,990,939 (GRCm39) |
Q963R |
possibly damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,114,650 (GRCm39) |
E645K |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Col4a2 |
A |
G |
8: 11,487,590 (GRCm39) |
N964S |
probably benign |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Duox1 |
T |
G |
2: 122,164,312 (GRCm39) |
L924R |
probably damaging |
Het |
| Edem2 |
T |
C |
2: 155,547,618 (GRCm39) |
E398G |
possibly damaging |
Het |
| Engase |
A |
G |
11: 118,373,748 (GRCm39) |
N297D |
probably damaging |
Het |
| Esp4 |
A |
C |
17: 40,913,445 (GRCm39) |
Y104S |
unknown |
Het |
| Esp4 |
C |
A |
17: 40,913,446 (GRCm39) |
Y104* |
probably null |
Het |
| Fat1 |
A |
T |
8: 45,486,514 (GRCm39) |
N3356I |
probably damaging |
Het |
| Gm3867 |
T |
A |
9: 36,168,550 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
C |
T |
7: 38,101,918 (GRCm39) |
|
noncoding transcript |
Het |
| Grip2 |
T |
C |
6: 91,762,693 (GRCm39) |
*175W |
probably null |
Het |
| Gucy1b2 |
A |
G |
14: 62,645,208 (GRCm39) |
V617A |
probably damaging |
Het |
| Gzmc |
C |
T |
14: 56,469,089 (GRCm39) |
C210Y |
probably damaging |
Het |
| Hmg20a |
T |
A |
9: 56,374,703 (GRCm39) |
S20T |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,148 (GRCm39) |
L165* |
probably null |
Het |
| Ighv1-26 |
A |
G |
12: 114,752,409 (GRCm39) |
I6T |
probably benign |
Het |
| Kcnk13 |
A |
G |
12: 100,027,974 (GRCm39) |
K350E |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,493,416 (GRCm39) |
L198* |
probably null |
Het |
| Lrfn5 |
C |
T |
12: 61,887,505 (GRCm39) |
A431V |
probably benign |
Het |
| Lta |
C |
T |
17: 35,423,065 (GRCm39) |
R86Q |
probably benign |
Het |
| Map3k4 |
T |
A |
17: 12,467,861 (GRCm39) |
I1058L |
probably damaging |
Het |
| Mtif2 |
T |
A |
11: 29,490,834 (GRCm39) |
S513T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,570,032 (GRCm39) |
T364I |
possibly damaging |
Het |
| Nav1 |
C |
A |
1: 135,535,049 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,321,547 (GRCm39) |
V748A |
probably benign |
Het |
| Obox6 |
A |
T |
7: 15,568,738 (GRCm39) |
M46K |
possibly damaging |
Het |
| Or5g25 |
T |
C |
2: 85,478,336 (GRCm39) |
T110A |
probably benign |
Het |
| Or5k1b |
T |
C |
16: 58,581,105 (GRCm39) |
I145V |
probably benign |
Het |
| Or5t17 |
C |
T |
2: 86,832,510 (GRCm39) |
R66W |
possibly damaging |
Het |
| Or6c33 |
G |
A |
10: 129,853,416 (GRCm39) |
R62Q |
probably damaging |
Het |
| Or9g19 |
G |
T |
2: 85,600,405 (GRCm39) |
E87* |
probably null |
Het |
| P4htm |
A |
G |
9: 108,456,971 (GRCm39) |
V412A |
possibly damaging |
Het |
| Phb2 |
T |
C |
6: 124,690,086 (GRCm39) |
S92P |
probably damaging |
Het |
| Phtf1 |
G |
T |
3: 103,894,751 (GRCm39) |
R147L |
probably damaging |
Het |
| Pigk |
C |
T |
3: 152,448,203 (GRCm39) |
Q189* |
probably null |
Het |
| Plxnc1 |
G |
A |
10: 94,703,330 (GRCm39) |
|
probably benign |
Het |
| Prrx1 |
A |
G |
1: 163,140,182 (GRCm39) |
V8A |
probably benign |
Het |
| Ptprg |
G |
A |
14: 12,213,713 (GRCm38) |
G252D |
probably damaging |
Het |
| Rnf4 |
G |
T |
5: 34,508,147 (GRCm39) |
V134F |
possibly damaging |
Het |
| Scarf2 |
A |
G |
16: 17,620,877 (GRCm39) |
T182A |
probably damaging |
Het |
| Setd1a |
A |
G |
7: 127,396,502 (GRCm39) |
|
probably benign |
Het |
| Sgpp1 |
A |
G |
12: 75,781,713 (GRCm39) |
F209L |
probably benign |
Het |
| Sh3d19 |
T |
A |
3: 86,024,171 (GRCm39) |
S567T |
possibly damaging |
Het |
| Slc4a2 |
C |
T |
5: 24,639,878 (GRCm39) |
R520W |
probably damaging |
Het |
| Slitrk3 |
G |
T |
3: 72,956,852 (GRCm39) |
A640E |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,073 (GRCm39) |
Y44C |
probably damaging |
Het |
| Spon1 |
A |
G |
7: 113,632,306 (GRCm39) |
E543G |
possibly damaging |
Het |
| Strn4 |
A |
G |
7: 16,562,719 (GRCm39) |
Q286R |
possibly damaging |
Het |
| Suz12 |
T |
C |
11: 79,892,988 (GRCm39) |
|
probably benign |
Het |
| Syna |
T |
A |
5: 134,587,440 (GRCm39) |
E503V |
probably damaging |
Het |
| Syt14 |
C |
T |
1: 192,613,094 (GRCm39) |
D569N |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,030,457 (GRCm39) |
|
probably benign |
Het |
| Tmprss11g |
G |
T |
5: 86,637,091 (GRCm39) |
S335* |
probably null |
Het |
| Tmprss11g |
A |
T |
5: 86,637,092 (GRCm39) |
S335T |
probably damaging |
Het |
| Trim66 |
A |
G |
7: 109,082,276 (GRCm39) |
S226P |
probably damaging |
Het |
| Tubgcp3 |
T |
C |
8: 12,707,654 (GRCm39) |
T112A |
probably benign |
Het |
| Ulk4 |
T |
C |
9: 121,092,791 (GRCm39) |
S149G |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,756,582 (GRCm39) |
D108G |
probably null |
Het |
| Vmn1r91 |
A |
T |
7: 19,835,695 (GRCm39) |
T205S |
possibly 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 |
|
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 |
|
|
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'- CTGCCTCTGAGGAAGTCATC -3'
(R):5'- AAACATGATTACAGTGGGCTCG -3'
Sequencing Primer
(F):5'- TGCCTCTGAGGAAGTCATCAAAAAC -3'
(R):5'- CAGTGGGCTCGTTTTCACCAATG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation