Incidental Mutation 'R9274:Slf1'
| ID |
703177 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9274 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
C to A
at 77191669 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Leucine
at position 1055
(*1055L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000151524
AA Change: *1055L
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: *1055L
| 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: 99.1%
|
| Validation Efficiency |
100% (65/65) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actc1 |
A |
T |
2: 113,879,752 (GRCm39) |
S236T |
probably benign |
Het |
| Adam30 |
A |
G |
3: 98,069,267 (GRCm39) |
T239A |
probably benign |
Het |
| Aoc1l2 |
T |
C |
6: 48,907,341 (GRCm39) |
F114L |
possibly damaging |
Het |
| Ascl2 |
G |
A |
7: 142,521,753 (GRCm39) |
R232C |
probably damaging |
Het |
| Atp10a |
C |
A |
7: 58,478,369 (GRCm39) |
Q1471K |
probably benign |
Het |
| Avl9 |
T |
A |
6: 56,720,346 (GRCm39) |
D461E |
probably damaging |
Het |
| Baiap3 |
T |
A |
17: 25,463,354 (GRCm39) |
Y983F |
probably damaging |
Het |
| C1rl |
A |
G |
6: 124,485,483 (GRCm39) |
S285G |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,254,354 (GRCm39) |
V772M |
probably damaging |
Het |
| Ccser2 |
T |
A |
14: 36,660,737 (GRCm39) |
D472V |
possibly damaging |
Het |
| Cd244a |
T |
G |
1: 171,401,928 (GRCm39) |
V218G |
probably benign |
Het |
| Cdhr1 |
T |
C |
14: 36,802,564 (GRCm39) |
K633R |
probably benign |
Het |
| Col14a1 |
A |
G |
15: 55,381,671 (GRCm39) |
Q1748R |
probably damaging |
Het |
| Col6a3 |
T |
A |
1: 90,707,020 (GRCm39) |
Y2638F |
unknown |
Het |
| Crnkl1 |
A |
T |
2: 145,765,836 (GRCm39) |
F411L |
probably damaging |
Het |
| Crp |
T |
A |
1: 172,526,072 (GRCm39) |
F52L |
possibly damaging |
Het |
| Dnah12 |
A |
G |
14: 26,537,374 (GRCm39) |
N2208D |
probably benign |
Het |
| Exd2 |
T |
C |
12: 80,539,674 (GRCm39) |
|
probably null |
Het |
| F13a1 |
A |
T |
13: 37,052,761 (GRCm39) |
I726N |
probably damaging |
Het |
| Fmo6 |
G |
A |
1: 162,747,921 (GRCm39) |
T381I |
probably benign |
Het |
| Gdpd5 |
T |
C |
7: 99,107,989 (GRCm39) |
L522P |
probably damaging |
Het |
| Gm12790 |
T |
A |
4: 101,824,743 (GRCm39) |
D175V |
possibly damaging |
Het |
| Gm3543 |
T |
C |
14: 41,802,125 (GRCm39) |
R120G |
probably damaging |
Het |
| Gpatch2 |
T |
A |
1: 186,963,029 (GRCm39) |
D273E |
probably damaging |
Het |
| Hlcs |
A |
G |
16: 94,088,785 (GRCm39) |
S66P |
possibly damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,506,046 (GRCm39) |
T3827A |
probably benign |
Het |
| Ism2 |
G |
A |
12: 87,331,827 (GRCm39) |
Q237* |
probably null |
Het |
| Jph2 |
G |
A |
2: 163,239,547 (GRCm39) |
|
probably benign |
Het |
| Kcnb2 |
A |
G |
1: 15,781,723 (GRCm39) |
Q865R |
probably benign |
Het |
| Kcnh6 |
C |
G |
11: 105,924,860 (GRCm39) |
H941Q |
possibly damaging |
Het |
| Kcnk9 |
A |
G |
15: 72,384,224 (GRCm39) |
V318A |
unknown |
Het |
| Lemd3 |
G |
A |
10: 120,814,717 (GRCm39) |
A172V |
possibly damaging |
Het |
| Lifr |
G |
T |
15: 7,217,591 (GRCm39) |
A840S |
probably damaging |
Het |
| Lnpep |
T |
C |
17: 17,758,837 (GRCm39) |
T836A |
probably benign |
Het |
| Mapk13 |
A |
G |
17: 28,988,490 (GRCm39) |
Y36C |
probably damaging |
Het |
| Mdm2 |
G |
A |
10: 117,541,081 (GRCm39) |
|
probably benign |
Het |
| Msmb |
T |
C |
14: 31,870,130 (GRCm39) |
M34T |
probably benign |
Het |
| Myo5a |
A |
G |
9: 75,097,279 (GRCm39) |
N1319S |
possibly damaging |
Het |
| Myot |
T |
A |
18: 44,479,265 (GRCm39) |
V334E |
probably damaging |
Het |
| Nalcn |
A |
G |
14: 123,753,068 (GRCm39) |
I306T |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nphp4 |
T |
C |
4: 152,640,056 (GRCm39) |
Y981H |
probably benign |
Het |
| Nphs2 |
G |
A |
1: 156,144,416 (GRCm39) |
R140Q |
probably damaging |
Het |
| Nsa2 |
C |
T |
13: 97,272,170 (GRCm39) |
R17H |
probably benign |
Het |
| Nup98 |
C |
A |
7: 101,788,037 (GRCm39) |
R1011L |
probably benign |
Het |
| Obox6 |
T |
C |
7: 15,567,766 (GRCm39) |
H227R |
possibly damaging |
Het |
| Or10ak14 |
G |
A |
4: 118,610,883 (GRCm39) |
A286V |
probably benign |
Het |
| Or1j14 |
T |
C |
2: 36,417,559 (GRCm39) |
I45T |
probably damaging |
Het |
| Or4c1 |
A |
C |
2: 89,133,513 (GRCm39) |
L141R |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,489,709 (GRCm39) |
G202D |
probably damaging |
Het |
| Pcdh12 |
A |
G |
18: 38,415,950 (GRCm39) |
W392R |
probably damaging |
Het |
| Plxna2 |
G |
A |
1: 194,471,136 (GRCm39) |
G969D |
probably damaging |
Het |
| Prg4 |
T |
C |
1: 150,331,924 (GRCm39) |
T250A |
possibly damaging |
Het |
| Rad54l |
G |
T |
4: 115,967,667 (GRCm39) |
P205Q |
probably damaging |
Het |
| Ralgapb |
A |
G |
2: 158,278,539 (GRCm39) |
I334M |
probably damaging |
Het |
| Ric3 |
C |
T |
7: 108,647,212 (GRCm39) |
D204N |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,385,322 (GRCm39) |
Y557* |
probably null |
Het |
| Ruvbl1 |
A |
G |
6: 88,474,334 (GRCm39) |
I446V |
probably benign |
Het |
| Serinc3 |
A |
T |
2: 163,468,371 (GRCm39) |
V361D |
probably damaging |
Het |
| Slc4a1 |
C |
A |
11: 102,242,047 (GRCm39) |
V864L |
probably benign |
Het |
| Stk25 |
T |
C |
1: 93,552,806 (GRCm39) |
S328G |
probably benign |
Het |
| Stpg1 |
T |
C |
4: 135,252,782 (GRCm39) |
F178L |
possibly damaging |
Het |
| Tmem25 |
C |
T |
9: 44,706,336 (GRCm39) |
R345H |
probably benign |
Het |
| Tssk1 |
A |
T |
16: 17,712,724 (GRCm39) |
I170L |
probably benign |
Het |
| Tubg1 |
A |
G |
11: 101,017,241 (GRCm39) |
|
probably benign |
Het |
| Uchl3 |
A |
G |
14: 101,903,240 (GRCm39) |
D33G |
probably damaging |
Het |
| Vmn1r152 |
A |
T |
7: 22,223,056 (GRCm39) |
H222L |
probably benign |
Het |
| Zfp975 |
C |
T |
7: 42,312,299 (GRCm39) |
V105I |
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 |
|
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 |
|
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'- TGTTTCTGAGTTAAATCCTGAGCC -3'
(R):5'- GGTCATCTAAATGAGTTGCTTATGGC -3'
Sequencing Primer
(F):5'- CCTGAGCCCATATTTTAGATCTGTAG -3'
(R):5'- GCTTATGGCATGCAATAGTGATACAG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation