Incidental Mutation 'R4663:Slf1'
| ID |
353041 |
| 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 |
041921-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 77274723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 37
(S37R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124865
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
[ENSMUST00000159300]
[ENSMUST00000159462]
[ENSMUST00000162921]
[ENSMUST00000162944]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: S37R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: S37R
| 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 |
probably damaging
Transcript: ENSMUST00000159300
AA Change: S37R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000124865
Gene: ENSMUSG00000021597
AA Change: S37R
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000159462
AA Change: S43R
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000124543
Gene: ENSMUSG00000021597
AA Change: S43R
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
8 |
86 |
1.37e-2 |
SMART |
|
BRCT
|
127 |
205 |
2.12e1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162320
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162921
AA Change: S37R
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000124946
Gene: ENSMUSG00000021597
AA Change: S37R
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162944
AA Change: S37R
PolyPhen 2
Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123982
Gene: ENSMUSG00000021597
AA Change: S37R
| Domain | Start | End | E-Value | Type |
|---|
|
BRCT
|
2 |
80 |
1.37e-2 |
SMART |
|
Blast:BRCT
|
121 |
173 |
1e-8 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aqr |
A |
T |
2: 113,992,147 (GRCm39) |
Y76* |
probably null |
Het |
| Armc5 |
C |
A |
7: 127,837,717 (GRCm39) |
A140E |
probably benign |
Het |
| Auts2 |
T |
C |
5: 131,468,476 (GRCm39) |
H947R |
probably damaging |
Het |
| Bag2 |
T |
C |
1: 33,786,074 (GRCm39) |
T83A |
probably damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
A |
G |
8: 104,937,799 (GRCm39) |
Y126C |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,129,697 (GRCm39) |
E330G |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,122,332 (GRCm39) |
I45V |
probably benign |
Het |
| Cd320 |
G |
A |
17: 34,067,152 (GRCm39) |
G214R |
probably null |
Het |
| Ckm |
G |
A |
7: 19,153,419 (GRCm39) |
V237M |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,247,939 (GRCm39) |
V1496A |
probably benign |
Het |
| Cspg4 |
T |
C |
9: 56,793,960 (GRCm39) |
V565A |
possibly damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,853 (GRCm39) |
V338A |
probably benign |
Het |
| Eddm13 |
T |
G |
7: 6,261,624 (GRCm39) |
I35S |
possibly damaging |
Het |
| Ephb6 |
A |
G |
6: 41,594,799 (GRCm39) |
Y638C |
probably damaging |
Het |
| Fat2 |
G |
C |
11: 55,187,039 (GRCm39) |
S1269* |
probably null |
Het |
| Fbxo3 |
T |
C |
2: 103,883,820 (GRCm39) |
V348A |
probably damaging |
Het |
| Gas6 |
G |
A |
8: 13,520,254 (GRCm39) |
P478L |
probably damaging |
Het |
| Herc1 |
T |
C |
9: 66,340,660 (GRCm39) |
S1670P |
probably damaging |
Het |
| Hnrnpk |
C |
A |
13: 58,542,331 (GRCm39) |
R281L |
probably damaging |
Het |
| Ifih1 |
C |
A |
2: 62,439,563 (GRCm39) |
C488F |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,441,559 (GRCm39) |
K192E |
probably benign |
Het |
| Ighv5-9 |
T |
A |
12: 113,625,440 (GRCm39) |
Q101L |
probably benign |
Het |
| Igkv3-2 |
G |
T |
6: 70,675,863 (GRCm39) |
M57I |
probably benign |
Het |
| Insyn2a |
A |
T |
7: 134,500,877 (GRCm39) |
Y409* |
probably null |
Het |
| Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
| L3mbtl3 |
T |
C |
10: 26,213,715 (GRCm39) |
Y237C |
unknown |
Het |
| Lats1 |
G |
A |
10: 7,588,347 (GRCm39) |
C988Y |
probably damaging |
Het |
| Lgals3 |
T |
A |
14: 47,619,079 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
G |
T |
14: 15,358,220 (GRCm38) |
H129N |
probably benign |
Het |
| Lrriq1 |
T |
C |
10: 102,899,273 (GRCm39) |
H1656R |
possibly damaging |
Het |
| Lypd6 |
T |
G |
2: 50,063,623 (GRCm39) |
Y43* |
probably null |
Het |
| Mettl25b |
A |
G |
3: 87,835,055 (GRCm39) |
S82P |
probably damaging |
Het |
| Mical2 |
A |
G |
7: 111,927,884 (GRCm39) |
D674G |
possibly damaging |
Het |
| Msi1 |
G |
A |
5: 115,588,334 (GRCm39) |
R284Q |
probably damaging |
Het |
| Mybpc2 |
T |
C |
7: 44,155,066 (GRCm39) |
E947G |
probably damaging |
Het |
| Nat14 |
T |
A |
7: 4,927,446 (GRCm39) |
L206Q |
probably damaging |
Het |
| Nup88 |
A |
T |
11: 70,856,672 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
A |
T |
14: 50,771,061 (GRCm39) |
Y64F |
probably damaging |
Het |
| Or4k15 |
A |
G |
14: 50,364,939 (GRCm39) |
R302G |
probably benign |
Het |
| Or8g19 |
A |
T |
9: 39,056,145 (GRCm39) |
I250F |
probably damaging |
Het |
| Pdcl |
T |
C |
2: 37,245,778 (GRCm39) |
E75G |
probably damaging |
Het |
| Phf14 |
A |
G |
6: 11,953,421 (GRCm39) |
I387V |
possibly damaging |
Het |
| Phf3 |
G |
A |
1: 30,860,296 (GRCm39) |
R845W |
probably damaging |
Het |
| Pm20d1 |
T |
C |
1: 131,726,340 (GRCm39) |
I59T |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,466,631 (GRCm39) |
|
probably null |
Het |
| Psmb2 |
T |
C |
4: 126,571,558 (GRCm39) |
L4P |
probably damaging |
Het |
| Pttg1 |
T |
A |
11: 43,315,677 (GRCm39) |
K46* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,764,395 (GRCm39) |
H1401R |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,429 (GRCm39) |
Y268N |
probably damaging |
Het |
| Sh3d19 |
G |
A |
3: 86,030,570 (GRCm39) |
D696N |
probably benign |
Het |
| Slc16a2 |
T |
C |
X: 102,751,585 (GRCm39) |
T274A |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,735,106 (GRCm39) |
A335T |
probably damaging |
Het |
| Slc49a3 |
T |
C |
5: 108,590,011 (GRCm39) |
M464V |
probably benign |
Het |
| Slc6a5 |
C |
A |
7: 49,588,146 (GRCm39) |
Y493* |
probably null |
Het |
| Smoc1 |
G |
A |
12: 81,214,376 (GRCm39) |
G264S |
probably damaging |
Het |
| Snapc4 |
T |
C |
2: 26,264,193 (GRCm39) |
E280G |
possibly damaging |
Het |
| Snx25 |
G |
A |
8: 46,488,616 (GRCm39) |
T913M |
probably damaging |
Het |
| Snx7 |
T |
C |
3: 117,594,528 (GRCm39) |
T408A |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,885,339 (GRCm39) |
S264R |
probably benign |
Het |
| Spg11 |
A |
T |
2: 121,928,580 (GRCm39) |
|
probably null |
Het |
| Suz12 |
T |
A |
11: 79,904,350 (GRCm39) |
L230Q |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,234,881 (GRCm39) |
|
probably benign |
Het |
| Tenm3 |
C |
A |
8: 48,689,005 (GRCm39) |
R2194L |
probably damaging |
Het |
| Tmed8 |
T |
A |
12: 87,221,005 (GRCm39) |
I194F |
probably damaging |
Het |
| Tmem79 |
T |
A |
3: 88,240,751 (GRCm39) |
T66S |
probably damaging |
Het |
| Trappc1 |
T |
A |
11: 69,216,337 (GRCm39) |
S118T |
probably benign |
Het |
| Ttn |
C |
T |
2: 76,569,225 (GRCm39) |
V27223I |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,606,839 (GRCm39) |
T18024A |
probably damaging |
Het |
| Vmn2r15 |
C |
T |
5: 109,441,940 (GRCm39) |
M164I |
probably benign |
Het |
| Vmn2r53 |
T |
A |
7: 12,334,901 (GRCm39) |
Y253F |
probably benign |
Het |
| Zfand6 |
C |
T |
7: 84,267,093 (GRCm39) |
R163H |
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 |
|
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 |
|
|
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'- CACAGTCGTTCAGCTATAAGATG -3'
(R):5'- ATAATACTGGAGGGTTTCAATGGTG -3'
Sequencing Primer
(F):5'- GTCGTTCAGCTATAAGATGTGTACAG -3'
(R):5'- CGTTGTTTACAAGTAAGCTTAACATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation