Incidental Mutation 'R6383:Mcf2l'
| ID |
515441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
044532-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6383 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
T to C
at 12929912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122792
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000156560]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095456
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
75 |
221 |
1.77e-24 |
SMART |
|
SPEC
|
354 |
455 |
4.41e-15 |
SMART |
|
coiled coil region
|
507 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
578 |
594 |
N/A |
INTRINSIC |
|
RhoGEF
|
636 |
811 |
2.83e-63 |
SMART |
|
PH
|
831 |
948 |
8.13e-14 |
SMART |
|
low complexity region
|
966 |
978 |
N/A |
INTRINSIC |
|
SH3
|
1058 |
1115 |
3.33e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000110860
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145372
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149938
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156560
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
97% (73/75) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a guanine nucleotide exchange factor that interacts specifically with the GTP-bound Rac1 and plays a role in the Rho/Rac signaling pathways. A variant in this gene was associated with osteoarthritis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,286,343 (GRCm39) |
M2497K |
probably benign |
Het |
| Abtb2 |
C |
T |
2: 103,397,721 (GRCm39) |
T217I |
probably damaging |
Het |
| Adam29 |
T |
A |
8: 56,324,543 (GRCm39) |
N637I |
probably damaging |
Het |
| Adgb |
T |
A |
10: 10,325,772 (GRCm39) |
E59V |
probably damaging |
Het |
| Adh7 |
C |
T |
3: 137,933,778 (GRCm39) |
R312C |
probably benign |
Het |
| Adprh |
A |
G |
16: 38,267,814 (GRCm39) |
I157T |
probably damaging |
Het |
| Ap2b1 |
T |
C |
11: 83,237,651 (GRCm39) |
S572P |
probably damaging |
Het |
| Asic1 |
T |
C |
15: 99,596,761 (GRCm39) |
L519P |
probably damaging |
Het |
| Atp2a2 |
G |
C |
5: 122,639,712 (GRCm39) |
L13V |
probably benign |
Het |
| Bst2 |
A |
T |
8: 71,989,932 (GRCm39) |
I47N |
possibly damaging |
Het |
| Cacng6 |
G |
A |
7: 3,473,509 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,957,289 (GRCm39) |
E1849G |
probably damaging |
Het |
| Cep295 |
T |
A |
9: 15,244,050 (GRCm39) |
T213S |
probably damaging |
Het |
| Chia1 |
A |
G |
3: 106,039,127 (GRCm39) |
T406A |
probably benign |
Het |
| Chmp4c |
G |
T |
3: 10,432,277 (GRCm39) |
K62N |
probably damaging |
Het |
| Cldn15 |
A |
G |
5: 136,996,979 (GRCm39) |
T7A |
probably benign |
Het |
| Cmpk2 |
T |
A |
12: 26,528,019 (GRCm39) |
M412K |
probably benign |
Het |
| Cnnm1 |
T |
C |
19: 43,453,705 (GRCm39) |
|
probably null |
Het |
| Cubn |
A |
C |
2: 13,432,646 (GRCm39) |
|
probably null |
Het |
| Dop1b |
T |
C |
16: 93,579,136 (GRCm39) |
V1668A |
possibly damaging |
Het |
| Erg28 |
T |
A |
12: 85,863,203 (GRCm39) |
Y77F |
probably damaging |
Het |
| F830045P16Rik |
C |
T |
2: 129,378,358 (GRCm39) |
A9T |
probably benign |
Het |
| Gli3 |
A |
G |
13: 15,898,140 (GRCm39) |
D740G |
probably damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gpat3 |
A |
T |
5: 101,041,010 (GRCm39) |
M357L |
probably benign |
Het |
| Gpr179 |
A |
G |
11: 97,227,973 (GRCm39) |
V1394A |
possibly damaging |
Het |
| Grn |
T |
A |
11: 102,327,621 (GRCm39) |
|
probably benign |
Het |
| H2-Q6 |
G |
A |
17: 35,647,359 (GRCm39) |
|
probably null |
Het |
| Igsf3 |
A |
G |
3: 101,342,964 (GRCm39) |
T514A |
probably benign |
Het |
| Il1r1 |
A |
G |
1: 40,352,495 (GRCm39) |
D558G |
possibly damaging |
Het |
| Irx4 |
T |
C |
13: 73,415,832 (GRCm39) |
M207T |
possibly damaging |
Het |
| Kap |
T |
C |
6: 133,828,920 (GRCm39) |
I54V |
probably benign |
Het |
| Kdm2b |
G |
A |
5: 123,072,841 (GRCm39) |
R340C |
probably damaging |
Het |
| Lipo3 |
T |
A |
19: 33,533,831 (GRCm39) |
M334L |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,745,115 (GRCm39) |
L152F |
probably damaging |
Het |
| Ltbp1 |
G |
A |
17: 75,666,452 (GRCm39) |
V1382I |
probably damaging |
Het |
| Map3k4 |
C |
T |
17: 12,468,470 (GRCm39) |
D1008N |
possibly damaging |
Het |
| Mecom |
T |
G |
3: 30,051,875 (GRCm39) |
D180A |
probably damaging |
Het |
| Meis1 |
T |
C |
11: 18,891,741 (GRCm39) |
D269G |
probably benign |
Het |
| Myh7 |
A |
C |
14: 55,226,351 (GRCm39) |
S430A |
probably benign |
Het |
| Myo1h |
A |
G |
5: 114,474,325 (GRCm39) |
I439V |
probably damaging |
Het |
| Nat1 |
T |
C |
8: 67,944,134 (GRCm39) |
V170A |
possibly damaging |
Het |
| Nlrp12 |
A |
G |
7: 3,282,673 (GRCm39) |
L742P |
probably damaging |
Het |
| Nlrp4c |
A |
G |
7: 6,069,052 (GRCm39) |
T318A |
probably benign |
Het |
| Or4d10 |
T |
A |
19: 12,051,727 (GRCm39) |
I90F |
probably damaging |
Het |
| Or4k47 |
T |
A |
2: 111,451,531 (GRCm39) |
N296I |
probably benign |
Het |
| Or51ai2 |
A |
G |
7: 103,587,030 (GRCm39) |
I148V |
probably benign |
Het |
| Or8g33 |
G |
T |
9: 39,337,530 (GRCm39) |
T279N |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,926 (GRCm39) |
L32Q |
probably damaging |
Het |
| Otop3 |
A |
G |
11: 115,235,898 (GRCm39) |
E529G |
probably damaging |
Het |
| Parp6 |
T |
C |
9: 59,531,222 (GRCm39) |
Y35H |
probably damaging |
Het |
| Pcdhb4 |
A |
C |
18: 37,441,074 (GRCm39) |
D128A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,569,113 (GRCm39) |
D1249N |
probably damaging |
Het |
| Pramel30 |
A |
T |
4: 144,059,717 (GRCm39) |
*476L |
probably null |
Het |
| Ptpn12 |
T |
A |
5: 21,192,466 (GRCm39) |
K765* |
probably null |
Het |
| Ptprb |
T |
A |
10: 116,182,912 (GRCm39) |
Y1529* |
probably null |
Het |
| Ptprc |
A |
T |
1: 138,006,189 (GRCm39) |
Y798N |
possibly damaging |
Het |
| Sdk2 |
G |
A |
11: 113,723,091 (GRCm39) |
T1300I |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,355,288 (GRCm39) |
I555T |
probably benign |
Het |
| Sptbn2 |
G |
A |
19: 4,782,524 (GRCm39) |
V487I |
possibly damaging |
Het |
| Sptbn5 |
A |
G |
2: 119,876,750 (GRCm39) |
|
probably benign |
Het |
| Srpk1 |
A |
G |
17: 28,809,036 (GRCm39) |
S648P |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,496,888 (GRCm39) |
|
probably null |
Het |
| Tmem135 |
A |
T |
7: 88,793,878 (GRCm39) |
I388N |
probably damaging |
Het |
| Top3a |
A |
T |
11: 60,640,285 (GRCm39) |
I446N |
probably benign |
Het |
| Trpv1 |
T |
C |
11: 73,136,862 (GRCm39) |
S482P |
probably damaging |
Het |
| Ugt3a1 |
C |
T |
15: 9,306,541 (GRCm39) |
A230V |
probably benign |
Het |
| Vmn2r15 |
A |
C |
5: 109,441,092 (GRCm39) |
Y255* |
probably null |
Het |
| Vmn2r60 |
A |
G |
7: 41,765,895 (GRCm39) |
M1V |
probably null |
Het |
| Vmn2r87 |
A |
G |
10: 130,314,869 (GRCm39) |
V239A |
probably damaging |
Het |
| Vwce |
T |
A |
19: 10,636,956 (GRCm39) |
C679* |
probably null |
Het |
| Zfp385b |
C |
T |
2: 77,246,185 (GRCm39) |
A281T |
probably benign |
Het |
| Zfp398 |
T |
G |
6: 47,843,529 (GRCm39) |
L395W |
probably damaging |
Het |
| Zfp442 |
C |
T |
2: 150,293,321 (GRCm39) |
|
probably null |
Het |
| Zfp606 |
A |
G |
7: 12,226,871 (GRCm39) |
S331G |
probably benign |
Het |
| Zfp882 |
A |
G |
8: 72,668,484 (GRCm39) |
H437R |
probably damaging |
Het |
|
| Other mutations in Mcf2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Mcf2l
|
APN |
8 |
13,050,857 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL00426:Mcf2l
|
APN |
8 |
13,034,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01391:Mcf2l
|
APN |
8 |
13,064,010 (GRCm39) |
splice site |
probably null |
|
|
IGL01795:Mcf2l
|
APN |
8 |
13,050,749 (GRCm39) |
splice site |
probably null |
|
|
IGL02314:Mcf2l
|
APN |
8 |
13,051,851 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02716:Mcf2l
|
APN |
8 |
13,047,277 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02985:Mcf2l
|
APN |
8 |
13,013,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03073:Mcf2l
|
APN |
8 |
13,050,004 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03308:Mcf2l
|
APN |
8 |
13,059,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03371:Mcf2l
|
APN |
8 |
13,051,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0022:Mcf2l
|
UTSW |
8 |
13,068,897 (GRCm39) |
nonsense |
probably null |
|
|
R0062:Mcf2l
|
UTSW |
8 |
13,056,766 (GRCm39) |
unclassified |
probably benign |
|
|
R0067:Mcf2l
|
UTSW |
8 |
13,063,060 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0110:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0450:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0469:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0510:Mcf2l
|
UTSW |
8 |
13,047,337 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0543:Mcf2l
|
UTSW |
8 |
13,046,728 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0591:Mcf2l
|
UTSW |
8 |
13,068,751 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0801:Mcf2l
|
UTSW |
8 |
13,064,020 (GRCm39) |
intron |
probably benign |
|
|
R0962:Mcf2l
|
UTSW |
8 |
13,051,964 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1084:Mcf2l
|
UTSW |
8 |
13,052,645 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1794:Mcf2l
|
UTSW |
8 |
12,965,982 (GRCm39) |
missense |
probably benign |
0.33 |
|
R2111:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2112:Mcf2l
|
UTSW |
8 |
13,051,867 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3785:Mcf2l
|
UTSW |
8 |
12,930,099 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4777:Mcf2l
|
UTSW |
8 |
13,068,051 (GRCm39) |
splice site |
probably null |
|
|
R4858:Mcf2l
|
UTSW |
8 |
13,063,972 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Mcf2l
|
UTSW |
8 |
13,034,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5021:Mcf2l
|
UTSW |
8 |
13,061,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5067:Mcf2l
|
UTSW |
8 |
12,965,959 (GRCm39) |
intron |
probably benign |
|
|
R5158:Mcf2l
|
UTSW |
8 |
13,059,715 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5439:Mcf2l
|
UTSW |
8 |
12,976,646 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R5569:Mcf2l
|
UTSW |
8 |
13,055,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5655:Mcf2l
|
UTSW |
8 |
13,060,444 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5668:Mcf2l
|
UTSW |
8 |
13,063,812 (GRCm39) |
nonsense |
probably null |
|
|
R5753:Mcf2l
|
UTSW |
8 |
13,049,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5808:Mcf2l
|
UTSW |
8 |
13,043,937 (GRCm39) |
start codon destroyed |
probably null |
0.92 |
|
R5946:Mcf2l
|
UTSW |
8 |
13,063,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6168:Mcf2l
|
UTSW |
8 |
13,051,823 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6174:Mcf2l
|
UTSW |
8 |
13,063,849 (GRCm39) |
nonsense |
probably null |
|
|
R6212:Mcf2l
|
UTSW |
8 |
13,067,431 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6270:Mcf2l
|
UTSW |
8 |
13,068,701 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6850:Mcf2l
|
UTSW |
8 |
13,059,476 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R6908:Mcf2l
|
UTSW |
8 |
13,068,919 (GRCm39) |
missense |
probably benign |
|
|
R7101:Mcf2l
|
UTSW |
8 |
13,063,579 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7163:Mcf2l
|
UTSW |
8 |
12,965,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7203:Mcf2l
|
UTSW |
8 |
13,060,456 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7414:Mcf2l
|
UTSW |
8 |
13,069,022 (GRCm39) |
makesense |
probably null |
|
|
R7553:Mcf2l
|
UTSW |
8 |
13,047,268 (GRCm39) |
missense |
probably benign |
|
|
R7556:Mcf2l
|
UTSW |
8 |
13,023,071 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7688:Mcf2l
|
UTSW |
8 |
12,998,130 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7776:Mcf2l
|
UTSW |
8 |
12,930,127 (GRCm39) |
missense |
probably benign |
|
|
R7947:Mcf2l
|
UTSW |
8 |
13,053,529 (GRCm39) |
splice site |
probably null |
|
|
R8077:Mcf2l
|
UTSW |
8 |
13,048,494 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8083:Mcf2l
|
UTSW |
8 |
13,057,875 (GRCm39) |
splice site |
probably null |
|
|
R8133:Mcf2l
|
UTSW |
8 |
13,061,487 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8189:Mcf2l
|
UTSW |
8 |
13,013,164 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8453:Mcf2l
|
UTSW |
8 |
13,034,956 (GRCm39) |
splice site |
probably null |
|
|
R8520:Mcf2l
|
UTSW |
8 |
12,930,089 (GRCm39) |
missense |
probably benign |
|
|
R8865:Mcf2l
|
UTSW |
8 |
12,930,003 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8895:Mcf2l
|
UTSW |
8 |
13,034,330 (GRCm39) |
intron |
probably benign |
|
|
R9081:Mcf2l
|
UTSW |
8 |
13,068,697 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9143:Mcf2l
|
UTSW |
8 |
13,062,883 (GRCm39) |
splice site |
probably benign |
|
|
R9219:Mcf2l
|
UTSW |
8 |
13,061,383 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9229:Mcf2l
|
UTSW |
8 |
13,063,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9335:Mcf2l
|
UTSW |
8 |
13,050,812 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9351:Mcf2l
|
UTSW |
8 |
13,050,757 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9406:Mcf2l
|
UTSW |
8 |
13,059,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9442:Mcf2l
|
UTSW |
8 |
13,023,048 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9618:Mcf2l
|
UTSW |
8 |
13,034,320 (GRCm39) |
intron |
probably benign |
|
|
X0052:Mcf2l
|
UTSW |
8 |
13,068,713 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Z1177:Mcf2l
|
UTSW |
8 |
13,059,654 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
|
| Posted On |
2018-05-04 |
Incidental Mutation