Incidental Mutation 'R7776:Mcf2l'
ID |
598896 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcf2l
|
Ensembl Gene |
ENSMUSG00000031442 |
Gene Name |
mcf.2 transforming sequence-like |
Synonyms |
Dbs, C130040G20Rik |
MMRRC Submission |
045832-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7776 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 12930127 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 49
(E49V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093108
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000156560]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095456
AA Change: E49V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093108 Gene: ENSMUSG00000031442 AA Change: E49V
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 |
probably benign
Transcript: ENSMUST00000156560
AA Change: E49V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
T |
C |
7: 119,832,214 (GRCm39) |
|
probably null |
Het |
Abca3 |
T |
A |
17: 24,605,250 (GRCm39) |
V716D |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,298,682 (GRCm39) |
V83I |
probably damaging |
Het |
Alkbh1 |
A |
G |
12: 87,478,215 (GRCm39) |
V232A |
probably damaging |
Het |
Arhgef10l |
T |
A |
4: 140,302,642 (GRCm39) |
I271F |
probably damaging |
Het |
Aspm |
T |
A |
1: 139,407,584 (GRCm39) |
M2157K |
possibly damaging |
Het |
Capn13 |
G |
A |
17: 73,629,049 (GRCm39) |
S586L |
probably benign |
Het |
Cd3g |
A |
T |
9: 44,885,459 (GRCm39) |
|
probably null |
Het |
Cfap54 |
A |
T |
10: 92,704,603 (GRCm39) |
Y2826N |
unknown |
Het |
Cmas |
T |
C |
6: 142,710,283 (GRCm39) |
V134A |
probably damaging |
Het |
Cnp |
A |
G |
11: 100,469,814 (GRCm39) |
H250R |
probably damaging |
Het |
Dact1 |
G |
A |
12: 71,364,688 (GRCm39) |
A453T |
probably benign |
Het |
Dcaf6 |
T |
A |
1: 165,179,623 (GRCm39) |
R506* |
probably null |
Het |
Dph1 |
A |
G |
11: 75,081,272 (GRCm39) |
V5A |
probably benign |
Het |
Entpd3 |
A |
G |
9: 120,387,568 (GRCm39) |
Y255C |
probably damaging |
Het |
Etl4 |
A |
T |
2: 20,811,957 (GRCm39) |
T1715S |
probably damaging |
Het |
Exd2 |
T |
A |
12: 80,539,334 (GRCm39) |
H466Q |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,246,181 (GRCm39) |
N1056S |
probably damaging |
Het |
Fcrl5 |
A |
T |
3: 87,351,502 (GRCm39) |
Q250L |
possibly damaging |
Het |
Fignl2 |
A |
G |
15: 100,951,301 (GRCm39) |
V327A |
unknown |
Het |
Gm10226 |
T |
A |
17: 21,910,866 (GRCm39) |
C34S |
possibly damaging |
Het |
H2bc6 |
A |
T |
13: 23,769,938 (GRCm39) |
M1K |
probably null |
Het |
Kdm6b |
A |
G |
11: 69,296,960 (GRCm39) |
S436P |
possibly damaging |
Het |
Lmnb2 |
G |
T |
10: 80,753,991 (GRCm39) |
A21E |
possibly damaging |
Het |
Muc2 |
A |
G |
7: 141,290,942 (GRCm39) |
E76G |
|
Het |
Naa60 |
T |
C |
16: 3,718,573 (GRCm39) |
I135T |
probably benign |
Het |
Neb |
T |
C |
2: 52,097,713 (GRCm39) |
Y4924C |
possibly damaging |
Het |
Nlrp10 |
T |
A |
7: 108,524,656 (GRCm39) |
I275F |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,636,174 (GRCm39) |
V425A |
possibly damaging |
Het |
Nucb2 |
T |
A |
7: 116,128,248 (GRCm39) |
D286E |
probably damaging |
Het |
Nynrin |
G |
A |
14: 56,103,420 (GRCm39) |
G755S |
probably damaging |
Het |
Or5d41 |
T |
C |
2: 88,054,429 (GRCm39) |
T316A |
probably damaging |
Het |
Padi2 |
T |
A |
4: 140,651,656 (GRCm39) |
D135E |
probably benign |
Het |
Pcdha6 |
T |
A |
18: 37,103,034 (GRCm39) |
S742R |
probably benign |
Het |
Pcdhgb5 |
T |
A |
18: 37,866,007 (GRCm39) |
S601T |
probably damaging |
Het |
Pira13 |
T |
C |
7: 3,826,246 (GRCm39) |
N249S |
unknown |
Het |
Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
Prr15l |
T |
C |
11: 96,825,390 (GRCm39) |
W7R |
possibly damaging |
Het |
Ptpn23 |
G |
A |
9: 110,215,368 (GRCm39) |
H1431Y |
possibly damaging |
Het |
Rnf20 |
C |
T |
4: 49,644,592 (GRCm39) |
Q286* |
probably null |
Het |
Rptor |
T |
C |
11: 119,783,453 (GRCm39) |
I1149T |
probably benign |
Het |
Sfrp2 |
A |
G |
3: 83,674,086 (GRCm39) |
I80V |
probably benign |
Het |
Slc38a2 |
T |
C |
15: 96,588,033 (GRCm39) |
D497G |
probably benign |
Het |
Slc43a1 |
T |
A |
2: 84,671,197 (GRCm39) |
M44K |
probably damaging |
Het |
Stil |
T |
A |
4: 114,890,035 (GRCm39) |
V841E |
possibly damaging |
Het |
Stip1 |
T |
A |
19: 6,999,141 (GRCm39) |
H479L |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,100,355 (GRCm39) |
Y1486H |
probably damaging |
Het |
Taf6 |
T |
C |
5: 138,180,282 (GRCm39) |
D324G |
probably damaging |
Het |
Tgif1 |
T |
A |
17: 71,158,452 (GRCm39) |
|
probably benign |
Het |
Tmprss11f |
T |
C |
5: 86,681,605 (GRCm39) |
E216G |
probably benign |
Het |
Tmprss7 |
C |
A |
16: 45,488,014 (GRCm39) |
A472S |
probably benign |
Het |
Trpm1 |
T |
A |
7: 63,897,939 (GRCm39) |
F1191I |
probably benign |
Het |
Tspan12 |
T |
A |
6: 21,836,442 (GRCm39) |
N40I |
probably damaging |
Het |
Ttll3 |
AAGTA |
AAGTACAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
Unc13c |
A |
T |
9: 73,602,232 (GRCm39) |
I1338N |
probably damaging |
Het |
Vegfc |
T |
A |
8: 54,530,835 (GRCm39) |
S8T |
unknown |
Het |
Vmn1r59 |
T |
A |
7: 5,457,634 (GRCm39) |
Q42L |
probably damaging |
Het |
Vmn2r-ps117 |
A |
T |
17: 19,043,934 (GRCm39) |
I337F |
probably damaging |
Het |
Xylb |
G |
A |
9: 119,209,766 (GRCm39) |
|
probably null |
Het |
Zfp551 |
T |
A |
7: 12,152,569 (GRCm39) |
I55F |
probably damaging |
Het |
Zfp972 |
T |
C |
2: 177,563,532 (GRCm39) |
N27S |
probably benign |
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 |
R6383:Mcf2l
|
UTSW |
8 |
12,929,912 (GRCm39) |
start gained |
probably benign |
|
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 |
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 |
PCR Primer
(F):5'- TGTTCCCTTGACATCACAGC -3'
(R):5'- TGTGCTGTGCTTTTAAAACCC -3'
Sequencing Primer
(F):5'- ACAGCCTCATGTCCGACTG -3'
(R):5'- GTGCTGTGCTTTTAAAACCCAAAGAC -3'
|
Posted On |
2019-11-26 |