Incidental Mutation 'R7308:Slf1'
| ID |
567410 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Slf1
|
| Ensembl Gene |
ENSMUSG00000021597 |
| Gene Name |
SMC5-SMC6 complex localization factor 1 |
| Synonyms |
2700017A04Rik, Brctx, Brctd1, C730024G01Rik, Ankrd32 |
| MMRRC Submission |
045323-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7308 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
77043088-77135473 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 77051168 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 698
(P698L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151524
AA Change: P698L
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: P698L
| 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: 98.8%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
C |
7: 120,423,770 (GRCm38) |
I43T |
probably benign |
Het |
| Ankar |
G |
A |
1: 72,651,794 (GRCm38) |
Q1175* |
probably null |
Het |
| Aqr |
G |
A |
2: 114,104,062 (GRCm38) |
A1366V |
possibly damaging |
Het |
| Arhgap45 |
G |
A |
10: 80,026,558 (GRCm38) |
|
probably null |
Het |
| Atf7ip |
T |
A |
6: 136,565,089 (GRCm38) |
M607K |
probably benign |
Het |
| BC028528 |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT |
3: 95,888,136 (GRCm38) |
|
probably benign |
Het |
| BC028528 |
TCACTGGTTCTGTGGTCACTGGTTCTGTGG |
TCACTGGTTCTGTGGCCACTGGTTCTGTGGTCACTGGTTCTGTGG |
3: 95,888,152 (GRCm38) |
|
probably benign |
Het |
| BC028528 |
ACTGGTTCTGTGGTC |
ACTGGTTCTGTGGTCCCTGGTTCTGTGGTC |
3: 95,888,169 (GRCm38) |
|
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,508,493 (GRCm38) |
V279E |
probably benign |
Het |
| Cd96 |
C |
T |
16: 46,071,734 (GRCm38) |
|
probably null |
Het |
| Cdca2 |
G |
A |
14: 67,694,991 (GRCm38) |
P488S |
probably benign |
Het |
| Cfhr4 |
A |
G |
1: 139,754,303 (GRCm38) |
V185A |
possibly damaging |
Het |
| Col4a2 |
T |
G |
8: 11,406,856 (GRCm38) |
|
probably null |
Het |
| Cyp4a12a |
A |
G |
4: 115,327,758 (GRCm38) |
R379G |
possibly damaging |
Het |
| Defb34 |
A |
G |
8: 19,126,379 (GRCm38) |
S29G |
probably benign |
Het |
| Dnah11 |
A |
G |
12: 117,995,275 (GRCm38) |
S2958P |
probably damaging |
Het |
| Dync1h1 |
A |
G |
12: 110,665,162 (GRCm38) |
D4431G |
possibly damaging |
Het |
| Egfem1 |
A |
T |
3: 29,151,866 (GRCm38) |
H84L |
probably benign |
Het |
| Enah |
A |
T |
1: 181,906,385 (GRCm38) |
|
probably null |
Het |
| Fam178b |
G |
T |
1: 36,659,407 (GRCm38) |
Q78K |
probably benign |
Het |
| Glb1 |
A |
G |
9: 114,473,863 (GRCm38) |
N589S |
probably damaging |
Het |
| Gm1527 |
C |
T |
3: 28,902,280 (GRCm38) |
H132Y |
probably benign |
Het |
| Gm5799 |
A |
G |
14: 43,543,707 (GRCm38) |
R22G |
possibly damaging |
Het |
| Grip2 |
T |
C |
6: 91,778,688 (GRCm38) |
D617G |
possibly damaging |
Het |
| Hax1 |
A |
T |
3: 89,998,566 (GRCm38) |
D5E |
possibly damaging |
Het |
| Hic1 |
A |
G |
11: 75,167,151 (GRCm38) |
L304P |
probably damaging |
Het |
| Hmox1 |
T |
A |
8: 75,097,019 (GRCm38) |
I105N |
probably damaging |
Het |
| Hormad1 |
T |
C |
3: 95,562,555 (GRCm38) |
S38P |
probably damaging |
Het |
| Hspa4 |
A |
G |
11: 53,267,103 (GRCm38) |
S558P |
possibly damaging |
Het |
| Kcnf1 |
T |
A |
12: 17,174,729 (GRCm38) |
H497L |
probably benign |
Het |
| Kcnma1 |
C |
T |
14: 23,330,935 (GRCm38) |
D1022N |
probably damaging |
Het |
| Kcnt1 |
T |
C |
2: 25,900,463 (GRCm38) |
F479S |
possibly damaging |
Het |
| Krba1 |
T |
C |
6: 48,406,339 (GRCm38) |
V203A |
probably benign |
Het |
| Lct |
G |
T |
1: 128,319,087 (GRCm38) |
P233Q |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,334,515 (GRCm38) |
D773G |
probably benign |
Het |
| Malt1 |
T |
C |
18: 65,449,609 (GRCm38) |
|
probably null |
Het |
| Man1a2 |
A |
T |
3: 100,620,105 (GRCm38) |
L333Q |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,082,928 (GRCm38) |
T584A |
probably benign |
Het |
| Myof |
A |
T |
19: 37,910,911 (GRCm38) |
S1800R |
probably damaging |
Het |
| Nbea |
A |
C |
3: 56,091,031 (GRCm38) |
C118W |
probably damaging |
Het |
| Nsd3 |
A |
T |
8: 25,640,724 (GRCm38) |
D35V |
probably damaging |
Het |
| Ntaq1 |
T |
C |
15: 58,152,610 (GRCm38) |
V85A |
possibly damaging |
Het |
| Or11g24 |
G |
A |
14: 50,425,265 (GRCm38) |
V249I |
possibly damaging |
Het |
| Or2y1c |
G |
A |
11: 49,469,927 (GRCm38) |
|
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,686,147 (GRCm38) |
R217H |
possibly damaging |
Het |
| Pcsk4 |
G |
A |
10: 80,323,173 (GRCm38) |
P462L |
probably benign |
Het |
| Pdia5 |
T |
G |
16: 35,456,509 (GRCm38) |
K96N |
probably damaging |
Het |
| Pik3c2a |
T |
C |
7: 116,373,839 (GRCm38) |
Y707C |
probably damaging |
Het |
| Ppig |
A |
T |
2: 69,749,462 (GRCm38) |
N447Y |
unknown |
Het |
| Ppp1r9b |
T |
C |
11: 95,004,571 (GRCm38) |
L695P |
possibly damaging |
Het |
| Proser1 |
C |
T |
3: 53,478,704 (GRCm38) |
A669V |
probably benign |
Het |
| Rdx |
A |
T |
9: 52,068,870 (GRCm38) |
K254N |
probably damaging |
Het |
| Slc35f2 |
T |
C |
9: 53,798,010 (GRCm38) |
S95P |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,557,362 (GRCm38) |
S1118T |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,751,574 (GRCm38) |
E2338G |
probably benign |
Het |
| Taok3 |
T |
A |
5: 117,200,151 (GRCm38) |
Y91* |
probably null |
Het |
| Tbc1d31 |
C |
T |
15: 57,952,816 (GRCm38) |
L649F |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 93,074,565 (GRCm38) |
T223A |
probably benign |
Het |
| Tmem132b |
A |
T |
5: 125,787,646 (GRCm38) |
I939F |
possibly damaging |
Het |
| Trav17 |
T |
A |
14: 53,806,979 (GRCm38) |
Y69N |
probably benign |
Het |
| Trmt13 |
T |
C |
3: 116,594,739 (GRCm38) |
D16G |
probably benign |
Het |
| Upf2 |
T |
A |
2: 5,973,518 (GRCm38) |
Y398N |
unknown |
Het |
| Vmn1r238 |
T |
C |
18: 3,122,875 (GRCm38) |
T180A |
probably benign |
Het |
| Zfp738 |
A |
T |
13: 67,669,553 (GRCm38) |
I773N |
probably benign |
Het |
| Zscan4e |
A |
T |
7: 11,307,153 (GRCm38) |
M264K |
probably benign |
Het |
|
| Other mutations in Slf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00942:Slf1
|
APN |
13 |
77,043,947 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL01105:Slf1
|
APN |
13 |
77,100,912 (GRCm38) |
unclassified |
probably benign |
|
|
IGL01108:Slf1
|
APN |
13 |
77,125,475 (GRCm38) |
splice site |
probably benign |
|
|
IGL01149:Slf1
|
APN |
13 |
77,112,648 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01642:Slf1
|
APN |
13 |
77,049,915 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01757:Slf1
|
APN |
13 |
77,084,440 (GRCm38) |
missense |
probably benign |
|
|
IGL01887:Slf1
|
APN |
13 |
77,100,982 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL02323:Slf1
|
APN |
13 |
77,051,294 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
IGL02861:Slf1
|
APN |
13 |
77,126,359 (GRCm38) |
splice site |
probably benign |
|
|
IGL02971:Slf1
|
APN |
13 |
77,047,104 (GRCm38) |
splice site |
probably benign |
|
|
IGL03088:Slf1
|
APN |
13 |
77,084,435 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03215:Slf1
|
APN |
13 |
77,049,977 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02980:Slf1
|
UTSW |
13 |
77,044,004 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
PIT1430001:Slf1
|
UTSW |
13 |
77,050,050 (GRCm38) |
splice site |
probably benign |
|
|
R0036:Slf1
|
UTSW |
13 |
77,100,951 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0036:Slf1
|
UTSW |
13 |
77,100,951 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0125:Slf1
|
UTSW |
13 |
77,043,745 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0230:Slf1
|
UTSW |
13 |
77,112,748 (GRCm38) |
intron |
probably benign |
|
|
R0244:Slf1
|
UTSW |
13 |
77,126,632 (GRCm38) |
nonsense |
probably null |
|
|
R0395:Slf1
|
UTSW |
13 |
77,105,969 (GRCm38) |
splice site |
probably benign |
|
|
R0614:Slf1
|
UTSW |
13 |
77,049,114 (GRCm38) |
missense |
probably benign |
0.10 |
|
R0661:Slf1
|
UTSW |
13 |
77,083,596 (GRCm38) |
missense |
probably benign |
0.31 |
|
R0837:Slf1
|
UTSW |
13 |
77,100,948 (GRCm38) |
splice site |
probably null |
|
|
R0945:Slf1
|
UTSW |
13 |
77,103,471 (GRCm38) |
unclassified |
probably benign |
|
|
R1282:Slf1
|
UTSW |
13 |
77,043,840 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1365:Slf1
|
UTSW |
13 |
77,126,371 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1449:Slf1
|
UTSW |
13 |
77,083,449 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1646:Slf1
|
UTSW |
13 |
77,066,648 (GRCm38) |
nonsense |
probably null |
|
|
R2071:Slf1
|
UTSW |
13 |
77,104,624 (GRCm38) |
missense |
probably benign |
0.02 |
|
R2141:Slf1
|
UTSW |
13 |
77,049,219 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2217:Slf1
|
UTSW |
13 |
77,046,706 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R2397:Slf1
|
UTSW |
13 |
77,103,583 (GRCm38) |
nonsense |
probably null |
|
|
R2520:Slf1
|
UTSW |
13 |
77,051,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3108:Slf1
|
UTSW |
13 |
77,126,721 (GRCm38) |
splice site |
probably benign |
|
|
R4178:Slf1
|
UTSW |
13 |
77,043,569 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4663:Slf1
|
UTSW |
13 |
77,126,604 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4730:Slf1
|
UTSW |
13 |
77,046,632 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4910:Slf1
|
UTSW |
13 |
77,043,880 (GRCm38) |
missense |
probably benign |
0.14 |
|
R4912:Slf1
|
UTSW |
13 |
77,051,294 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5122:Slf1
|
UTSW |
13 |
77,049,987 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5269:Slf1
|
UTSW |
13 |
77,104,581 (GRCm38) |
missense |
probably benign |
0.33 |
|
R5336:Slf1
|
UTSW |
13 |
77,106,010 (GRCm38) |
makesense |
probably null |
|
|
R5346:Slf1
|
UTSW |
13 |
77,092,371 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5445:Slf1
|
UTSW |
13 |
77,091,204 (GRCm38) |
missense |
probably benign |
0.10 |
|
R5568:Slf1
|
UTSW |
13 |
77,046,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5622:Slf1
|
UTSW |
13 |
77,049,971 (GRCm38) |
missense |
probably benign |
0.14 |
|
R5685:Slf1
|
UTSW |
13 |
77,083,479 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R5792:Slf1
|
UTSW |
13 |
77,066,737 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5856:Slf1
|
UTSW |
13 |
77,106,087 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6109:Slf1
|
UTSW |
13 |
77,126,680 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6245:Slf1
|
UTSW |
13 |
77,084,383 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6338:Slf1
|
UTSW |
13 |
77,084,462 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6438:Slf1
|
UTSW |
13 |
77,066,606 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6487:Slf1
|
UTSW |
13 |
77,066,617 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6597:Slf1
|
UTSW |
13 |
77,049,129 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6600:Slf1
|
UTSW |
13 |
77,083,536 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6661:Slf1
|
UTSW |
13 |
77,043,845 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7268:Slf1
|
UTSW |
13 |
77,066,707 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7355:Slf1
|
UTSW |
13 |
77,091,303 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7546:Slf1
|
UTSW |
13 |
77,049,192 (GRCm38) |
missense |
probably benign |
|
|
R7807:Slf1
|
UTSW |
13 |
77,046,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8175:Slf1
|
UTSW |
13 |
77,112,671 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8385:Slf1
|
UTSW |
13 |
77,105,990 (GRCm38) |
missense |
probably benign |
|
|
R8698:Slf1
|
UTSW |
13 |
77,049,165 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8770:Slf1
|
UTSW |
13 |
77,046,647 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8786:Slf1
|
UTSW |
13 |
77,126,687 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R8796:Slf1
|
UTSW |
13 |
77,066,665 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8932:Slf1
|
UTSW |
13 |
77,046,574 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9132:Slf1
|
UTSW |
13 |
77,100,954 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9243:Slf1
|
UTSW |
13 |
77,125,456 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9274:Slf1
|
UTSW |
13 |
77,043,550 (GRCm38) |
makesense |
probably null |
|
|
R9286:Slf1
|
UTSW |
13 |
77,043,813 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9416:Slf1
|
UTSW |
13 |
77,046,537 (GRCm38) |
missense |
|
|
|
R9612:Slf1
|
UTSW |
13 |
77,049,085 (GRCm38) |
critical splice donor site |
probably null |
|
|
X0018:Slf1
|
UTSW |
13 |
77,051,238 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTGCCTGAAGCCAGAAGATC -3'
(R):5'- GCACAATCCATAGTGAAGATATGG -3'
Sequencing Primer
(F):5'- GTGATTTGAACCATGGAGCCATCTC -3'
(R):5'- TCCATAGTGAAGATATGGGGGAAATG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation