Incidental Mutation 'R2520:Slf1'
| ID |
254407 |
| 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 |
040424-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2520 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
77191207-77283592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 77199384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 666
(I666F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000151524]
|
| AlphaFold |
Q8R3P9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000151524
AA Change: I666F
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118312
Gene: ENSMUSG00000021597
AA Change: I666F
| 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
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700109H08Rik |
A |
T |
5: 3,625,773 (GRCm39) |
N70I |
probably damaging |
Het |
| 4930503B20Rik |
G |
A |
3: 146,356,261 (GRCm39) |
R216W |
probably damaging |
Het |
| Abcb9 |
C |
T |
5: 124,218,091 (GRCm39) |
|
probably null |
Het |
| Arhgdia |
A |
T |
11: 120,470,852 (GRCm39) |
V72E |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,077,207 (GRCm39) |
K525* |
probably null |
Het |
| Bckdha |
A |
C |
7: 25,341,124 (GRCm39) |
I79S |
probably benign |
Het |
| Carm1 |
G |
A |
9: 21,494,893 (GRCm39) |
|
probably null |
Het |
| Cers5 |
G |
A |
15: 99,634,262 (GRCm39) |
T362I |
probably damaging |
Het |
| Clec4b2 |
T |
A |
6: 123,177,942 (GRCm39) |
F86I |
probably damaging |
Het |
| Crispld1 |
G |
A |
1: 17,821,000 (GRCm39) |
D347N |
probably damaging |
Het |
| Csf3r |
A |
T |
4: 125,929,145 (GRCm39) |
T352S |
probably benign |
Het |
| Daam2 |
G |
A |
17: 49,787,785 (GRCm39) |
Q443* |
probably null |
Het |
| Dcbld1 |
A |
G |
10: 52,195,641 (GRCm39) |
D283G |
probably damaging |
Het |
| Dpp9 |
T |
C |
17: 56,513,868 (GRCm39) |
E82G |
probably damaging |
Het |
| Dync1li1 |
A |
G |
9: 114,518,074 (GRCm39) |
D42G |
probably null |
Het |
| Eml6 |
T |
C |
11: 29,741,993 (GRCm39) |
H1130R |
probably damaging |
Het |
| Enox1 |
A |
T |
14: 77,819,839 (GRCm39) |
Y198F |
probably damaging |
Het |
| Epop |
A |
G |
11: 97,519,554 (GRCm39) |
L185P |
probably benign |
Het |
| Frem1 |
A |
T |
4: 82,868,527 (GRCm39) |
C1485S |
probably damaging |
Het |
| Gbf1 |
T |
A |
19: 46,253,806 (GRCm39) |
S571T |
probably benign |
Het |
| Gm5965 |
A |
T |
16: 88,575,414 (GRCm39) |
I196F |
probably null |
Het |
| Gm8237 |
T |
A |
14: 5,863,642 (GRCm38) |
I8L |
possibly damaging |
Het |
| Gria2 |
A |
C |
3: 80,614,269 (GRCm39) |
N590K |
probably damaging |
Het |
| Hectd2 |
T |
A |
19: 36,589,633 (GRCm39) |
|
probably null |
Het |
| Hmcn1 |
T |
A |
1: 150,619,398 (GRCm39) |
T1239S |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,083,194 (GRCm39) |
D167E |
probably damaging |
Het |
| Htr1a |
A |
G |
13: 105,581,881 (GRCm39) |
S374G |
probably benign |
Het |
| Il16 |
C |
T |
7: 83,301,202 (GRCm39) |
G307S |
probably benign |
Het |
| Ipmk |
T |
C |
10: 71,217,047 (GRCm39) |
F198S |
probably damaging |
Het |
| Lyz2 |
T |
A |
10: 117,114,558 (GRCm39) |
I124F |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,515,854 (GRCm39) |
V47A |
probably damaging |
Het |
| Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,020 (GRCm39) |
C220S |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,204,931 (GRCm39) |
K1595* |
probably null |
Het |
| Naga |
G |
T |
15: 82,214,295 (GRCm39) |
D405E |
probably benign |
Het |
| Nanog |
T |
A |
6: 122,690,418 (GRCm39) |
N249K |
probably benign |
Het |
| Nhlh1 |
G |
T |
1: 171,881,570 (GRCm39) |
R99S |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 59,202,090 (GRCm39) |
|
probably null |
Het |
| Nudt2 |
A |
G |
4: 41,480,354 (GRCm39) |
E79G |
probably benign |
Het |
| Or2ad1 |
A |
T |
13: 21,326,746 (GRCm39) |
C160* |
probably null |
Het |
| Or4f60 |
A |
T |
2: 111,902,013 (GRCm39) |
M305K |
probably benign |
Het |
| Or52n2 |
T |
A |
7: 104,542,080 (GRCm39) |
I252F |
probably benign |
Het |
| Pitpnm2 |
T |
C |
5: 124,267,464 (GRCm39) |
D592G |
probably damaging |
Het |
| Prps1l3 |
T |
C |
12: 57,285,369 (GRCm39) |
V53A |
probably damaging |
Het |
| Psmd2 |
T |
G |
16: 20,481,826 (GRCm39) |
V853G |
probably damaging |
Het |
| Pycard |
A |
G |
7: 127,592,677 (GRCm39) |
I50T |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
T |
A |
16: 32,097,221 (GRCm39) |
S99T |
probably benign |
Het |
| Rph3al |
A |
G |
11: 75,797,373 (GRCm39) |
S108P |
possibly damaging |
Het |
| Sdk1 |
G |
A |
5: 142,071,526 (GRCm39) |
A979T |
probably benign |
Het |
| Sec16a |
G |
A |
2: 26,331,368 (GRCm39) |
Q216* |
probably null |
Het |
| Slc35f3 |
T |
A |
8: 127,121,312 (GRCm39) |
V391E |
possibly damaging |
Het |
| Slfn14 |
A |
G |
11: 83,167,013 (GRCm39) |
V834A |
probably damaging |
Het |
| Tab2 |
G |
A |
10: 7,783,245 (GRCm39) |
P679L |
probably damaging |
Het |
| Tbc1d10b |
A |
G |
7: 126,799,455 (GRCm39) |
|
probably null |
Het |
| Tmeff1 |
T |
A |
4: 48,604,679 (GRCm39) |
C91S |
probably damaging |
Het |
| Tmem108 |
G |
T |
9: 103,366,481 (GRCm39) |
N503K |
possibly damaging |
Het |
| Trbv28 |
A |
G |
6: 41,248,541 (GRCm39) |
T24A |
probably damaging |
Het |
| Trim34b |
A |
G |
7: 103,980,446 (GRCm39) |
E178G |
probably damaging |
Het |
| Trmt1l |
T |
A |
1: 151,329,696 (GRCm39) |
H546Q |
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,523,799 (GRCm39) |
I153V |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,899,964 (GRCm39) |
V101A |
probably damaging |
Het |
| Ubash3b |
A |
T |
9: 40,926,243 (GRCm39) |
H501Q |
probably damaging |
Het |
| Upf3a |
T |
A |
8: 13,846,443 (GRCm39) |
|
probably null |
Het |
| Usp48 |
A |
G |
4: 137,352,562 (GRCm39) |
S94G |
probably benign |
Het |
| Wdr86 |
T |
C |
5: 24,917,573 (GRCm39) |
*381W |
probably null |
Het |
| Wdr90 |
G |
A |
17: 26,074,326 (GRCm39) |
P680S |
probably damaging |
Het |
| Zbtb22 |
G |
A |
17: 34,135,956 (GRCm39) |
V34M |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,253,689 (GRCm39) |
|
probably null |
Het |
| Zfhx4 |
C |
T |
3: 5,468,418 (GRCm39) |
P2859S |
probably benign |
Het |
| Zfp512b |
A |
G |
2: 181,231,295 (GRCm39) |
V295A |
probably damaging |
Het |
| Zfp608 |
A |
T |
18: 55,121,578 (GRCm39) |
V3E |
possibly damaging |
Het |
| Zfp748 |
G |
T |
13: 67,694,781 (GRCm39) |
D32E |
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 |
|
|
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 |
|
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'- CGGCTCCTTAATGTGTTGGAAG -3'
(R):5'- CAAGGAGCAATGTATGTGTGTATAG -3'
Sequencing Primer
(F):5'- AAGTTGTGTTTTGTCTACTTACGAG -3'
(R):5'- GTCACTCAGTTGAGCACA -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation