Incidental Mutation 'R8520:Mcf2l'
ID |
658595 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcf2l
|
Ensembl Gene |
ENSMUSG00000031442 |
Gene Name |
mcf.2 transforming sequence-like |
Synonyms |
Dbs, C130040G20Rik |
MMRRC Submission |
067947-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8520 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 12930089 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 36
(D36E)
|
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
AA Change: D36E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000093108 Gene: ENSMUSG00000031442 AA Change: D36E
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: D36E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (51/51) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921517D22Rik |
A |
T |
13: 59,838,423 (GRCm39) |
F136L |
possibly damaging |
Het |
A430033K04Rik |
T |
A |
5: 138,644,968 (GRCm39) |
N284K |
possibly damaging |
Het |
Abcb1a |
T |
C |
5: 8,735,346 (GRCm39) |
I151T |
possibly damaging |
Het |
Adam28 |
C |
T |
14: 68,879,532 (GRCm39) |
G172D |
probably damaging |
Het |
Adcy6 |
A |
G |
15: 98,502,041 (GRCm39) |
V191A |
probably benign |
Het |
Ankrd52 |
T |
C |
10: 128,225,359 (GRCm39) |
L911P |
probably damaging |
Het |
C5ar1 |
A |
G |
7: 15,982,076 (GRCm39) |
S315P |
probably damaging |
Het |
Cubn |
A |
G |
2: 13,313,331 (GRCm39) |
|
probably null |
Het |
Dlec1 |
T |
C |
9: 118,941,277 (GRCm39) |
S276P |
probably benign |
Het |
Dnah14 |
T |
A |
1: 181,481,203 (GRCm39) |
I1564N |
probably damaging |
Het |
Dsg2 |
G |
A |
18: 20,712,508 (GRCm39) |
G171R |
probably damaging |
Het |
Dusp13b |
C |
A |
14: 21,793,538 (GRCm39) |
G208* |
probably null |
Het |
Ebf3 |
A |
C |
7: 136,802,853 (GRCm39) |
|
probably null |
Het |
Fbn2 |
A |
T |
18: 58,171,270 (GRCm39) |
|
probably null |
Het |
Fbxo27 |
A |
G |
7: 28,392,767 (GRCm39) |
D16G |
probably benign |
Het |
G6pc3 |
A |
G |
11: 102,083,934 (GRCm39) |
S187G |
probably benign |
Het |
Gucy2d |
G |
A |
7: 98,121,513 (GRCm39) |
V995I |
probably null |
Het |
Hmcn2 |
C |
A |
2: 31,244,726 (GRCm39) |
P728T |
probably damaging |
Het |
Il1r2 |
T |
C |
1: 40,144,499 (GRCm39) |
L62P |
probably damaging |
Het |
Ints7 |
T |
C |
1: 191,314,603 (GRCm39) |
S63P |
probably damaging |
Het |
Lyset |
T |
A |
12: 102,710,431 (GRCm39) |
|
probably null |
Het |
Mfsd13b |
T |
G |
7: 120,590,586 (GRCm39) |
I109S |
probably benign |
Het |
Mier2 |
G |
A |
10: 79,378,263 (GRCm39) |
H385Y |
possibly damaging |
Het |
Mydgf |
C |
A |
17: 56,490,734 (GRCm39) |
|
probably null |
Het |
Nanog |
A |
T |
6: 122,690,475 (GRCm39) |
L268F |
possibly damaging |
Het |
Or12j5 |
T |
A |
7: 140,084,315 (GRCm39) |
D19V |
probably benign |
Het |
Or14a259 |
A |
T |
7: 86,013,471 (GRCm39) |
C25S |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,385,896 (GRCm39) |
N256K |
probably damaging |
Het |
P2rx1 |
A |
T |
11: 72,899,779 (GRCm39) |
D128V |
probably benign |
Het |
Pappa |
G |
A |
4: 65,254,001 (GRCm39) |
V1552I |
probably benign |
Het |
Pax8 |
A |
T |
2: 24,333,034 (GRCm39) |
F103I |
probably damaging |
Het |
Ptk2b |
T |
A |
14: 66,412,204 (GRCm39) |
S396C |
probably damaging |
Het |
Rnf148 |
A |
G |
6: 23,654,169 (GRCm39) |
Y276H |
probably damaging |
Het |
Sec11c |
A |
T |
18: 65,947,911 (GRCm39) |
I93L |
probably damaging |
Het |
Serpinb2 |
T |
A |
1: 107,450,910 (GRCm39) |
N217K |
probably benign |
Het |
Slc2a13 |
T |
A |
15: 91,457,105 (GRCm39) |
T66S |
probably damaging |
Het |
Slc4a3 |
T |
C |
1: 75,526,506 (GRCm39) |
M9T |
probably benign |
Het |
Sord |
G |
A |
2: 122,087,423 (GRCm39) |
V176I |
possibly damaging |
Het |
Thbs4 |
G |
A |
13: 92,890,792 (GRCm39) |
Q892* |
probably null |
Het |
Thsd7b |
T |
A |
1: 129,849,157 (GRCm39) |
D956E |
probably benign |
Het |
Topbp1 |
T |
A |
9: 103,186,176 (GRCm39) |
|
probably null |
Het |
Tst |
T |
C |
15: 78,289,453 (GRCm39) |
E194G |
probably damaging |
Het |
Ttk |
T |
A |
9: 83,739,380 (GRCm39) |
S484T |
possibly damaging |
Het |
U2surp |
A |
G |
9: 95,384,607 (GRCm39) |
S26P |
possibly damaging |
Het |
Ugt2b37 |
C |
T |
5: 87,388,714 (GRCm39) |
A500T |
probably benign |
Het |
Utrn |
A |
T |
10: 12,545,930 (GRCm39) |
Y1669* |
probably null |
Het |
Vmn2r23 |
A |
T |
6: 123,718,615 (GRCm39) |
Q656L |
probably damaging |
Het |
Wdr7 |
A |
G |
18: 64,120,231 (GRCm39) |
N1424S |
probably benign |
Het |
Xkr9 |
A |
G |
1: 13,771,603 (GRCm39) |
D373G |
probably benign |
Het |
Zfp984 |
T |
A |
4: 147,840,668 (GRCm39) |
Y61F |
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 |
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 |
|
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'- TCTTGTCCGAAGAAGCAATCC -3'
(R):5'- CTCATACTCTCTAAGCAGAGCC -3'
Sequencing Primer
(F):5'- GAAGCAATCCTTCGATCTGCAC -3'
(R):5'- GGTTAACCCATGACAACCCTTGG -3'
|
Posted On |
2021-01-18 |