Incidental Mutation 'R7163:Mcf2l'
| ID |
557738 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
045330-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 12965439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 4
(R4H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133776
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000173099]
|
| 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 |
probably benign
Transcript: ENSMUST00000110876
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
|
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
|
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
|
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
|
PH
|
801 |
918 |
8.13e-14 |
SMART |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SH3
|
1084 |
1141 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110879
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
45 |
191 |
1.77e-24 |
SMART |
|
SPEC
|
324 |
425 |
4.41e-15 |
SMART |
|
coiled coil region
|
477 |
499 |
N/A |
INTRINSIC |
|
low complexity region
|
548 |
564 |
N/A |
INTRINSIC |
|
RhoGEF
|
606 |
781 |
2.83e-63 |
SMART |
|
PH
|
801 |
918 |
8.13e-14 |
SMART |
|
low complexity region
|
936 |
948 |
N/A |
INTRINSIC |
|
SH3
|
1028 |
1085 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173099
AA Change: R4H
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: R4H
| Domain | Start | End | E-Value | Type |
|---|
|
SEC14
|
41 |
187 |
1.77e-24 |
SMART |
|
SPEC
|
320 |
421 |
4.41e-15 |
SMART |
|
coiled coil region
|
473 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
544 |
560 |
N/A |
INTRINSIC |
|
RhoGEF
|
602 |
777 |
2.83e-63 |
SMART |
|
PH
|
797 |
914 |
8.13e-14 |
SMART |
|
low complexity region
|
932 |
944 |
N/A |
INTRINSIC |
|
low complexity region
|
1014 |
1025 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
A |
G |
9: 53,319,372 (GRCm39) |
K4R |
possibly damaging |
Het |
| A830018L16Rik |
G |
A |
1: 11,484,848 (GRCm39) |
G19D |
probably damaging |
Het |
| Abca3 |
A |
T |
17: 24,583,916 (GRCm39) |
M102L |
probably benign |
Het |
| Adam19 |
A |
T |
11: 46,022,544 (GRCm39) |
Y499F |
probably benign |
Het |
| Adck2 |
T |
C |
6: 39,560,797 (GRCm39) |
V444A |
probably damaging |
Het |
| Adck5 |
T |
C |
15: 76,478,016 (GRCm39) |
V214A |
probably damaging |
Het |
| Agrn |
G |
A |
4: 156,262,966 (GRCm39) |
T437M |
probably damaging |
Het |
| Aox3 |
A |
T |
1: 58,158,671 (GRCm39) |
I81F |
probably damaging |
Het |
| Bcl6 |
G |
A |
16: 23,784,976 (GRCm39) |
R675* |
probably null |
Het |
| Blmh |
A |
G |
11: 76,836,987 (GRCm39) |
Y23C |
unknown |
Het |
| Cacnb1 |
A |
G |
11: 97,903,726 (GRCm39) |
V109A |
probably benign |
Het |
| Ccdc27 |
C |
T |
4: 154,117,282 (GRCm39) |
R555H |
not run |
Het |
| Cep170 |
A |
C |
1: 176,602,031 (GRCm39) |
S358R |
probably damaging |
Het |
| Cfap46 |
A |
T |
7: 139,197,994 (GRCm39) |
|
probably null |
Het |
| Dclk1 |
G |
T |
3: 55,163,549 (GRCm39) |
E214* |
probably null |
Het |
| Dhrs1 |
A |
G |
14: 55,976,838 (GRCm39) |
L282P |
probably benign |
Het |
| Dlgap5 |
A |
G |
14: 47,637,095 (GRCm39) |
L461P |
probably damaging |
Het |
| Elp2 |
G |
T |
18: 24,747,503 (GRCm39) |
C185F |
probably benign |
Het |
| Fbxw7 |
T |
C |
3: 84,832,892 (GRCm39) |
|
probably benign |
Het |
| Fga |
T |
C |
3: 82,933,571 (GRCm39) |
V17A |
probably benign |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm43302 |
T |
A |
5: 105,441,493 (GRCm39) |
|
probably null |
Het |
| Gpatch8 |
TTCCTCCTCCTCCTCTTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC |
11: 102,371,014 (GRCm39) |
|
probably benign |
Het |
| Hcn1 |
A |
T |
13: 118,062,083 (GRCm39) |
I450L |
unknown |
Het |
| Hydin |
T |
A |
8: 111,329,968 (GRCm39) |
C4901S |
probably benign |
Het |
| Ino80 |
A |
T |
2: 119,223,356 (GRCm39) |
I1186N |
probably damaging |
Het |
| Ints7 |
T |
A |
1: 191,349,949 (GRCm39) |
I781N |
possibly damaging |
Het |
| Irf2 |
T |
A |
8: 47,290,712 (GRCm39) |
V178E |
possibly damaging |
Het |
| Iws1 |
T |
A |
18: 32,226,277 (GRCm39) |
S722T |
possibly damaging |
Het |
| Jak1 |
G |
A |
4: 101,032,385 (GRCm39) |
S407F |
probably damaging |
Het |
| Kdm3a |
G |
T |
6: 71,609,061 (GRCm39) |
D55E |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 899,940 (GRCm39) |
S169P |
probably damaging |
Het |
| Kif15 |
A |
G |
9: 122,846,722 (GRCm39) |
N1348S |
probably damaging |
Het |
| Kpna7 |
G |
A |
5: 144,939,206 (GRCm39) |
P187L |
unknown |
Het |
| Krt35 |
A |
T |
11: 99,986,984 (GRCm39) |
F10Y |
probably damaging |
Het |
| Lemd1 |
G |
T |
1: 132,184,475 (GRCm39) |
V131F |
probably benign |
Het |
| Megf6 |
C |
T |
4: 154,351,898 (GRCm39) |
R1166C |
probably damaging |
Het |
| Mmp11 |
T |
C |
10: 75,762,410 (GRCm39) |
I308V |
possibly damaging |
Het |
| Mrgpra4 |
A |
G |
7: 47,631,238 (GRCm39) |
V121A |
probably benign |
Het |
| Myl2 |
T |
A |
5: 122,239,885 (GRCm39) |
I26N |
probably damaging |
Het |
| Myo15a |
A |
G |
11: 60,389,195 (GRCm39) |
M862V |
|
Het |
| Nckap5l |
T |
C |
15: 99,331,354 (GRCm39) |
H64R |
probably damaging |
Het |
| Nipsnap2 |
A |
C |
5: 129,821,774 (GRCm39) |
E90A |
probably benign |
Het |
| Nup210 |
G |
T |
6: 91,050,313 (GRCm39) |
N385K |
probably damaging |
Het |
| Or2h2 |
T |
C |
17: 37,396,937 (GRCm39) |
N40S |
probably damaging |
Het |
| Or2t48 |
C |
A |
11: 58,419,994 (GRCm39) |
E273* |
probably null |
Het |
| Or5m11b |
T |
A |
2: 85,805,932 (GRCm39) |
L115Q |
probably damaging |
Het |
| Or8c19-ps1 |
T |
C |
9: 38,220,345 (GRCm39) |
F85L |
probably damaging |
Het |
| Or9e1 |
T |
C |
11: 58,732,012 (GRCm39) |
V24A |
probably benign |
Het |
| Pcmt1 |
A |
T |
10: 7,513,922 (GRCm39) |
M249K |
probably benign |
Het |
| Pde3a |
T |
C |
6: 141,433,270 (GRCm39) |
L767P |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,956,456 (GRCm39) |
V285A |
possibly damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,716,416 (GRCm39) |
K690* |
probably null |
Het |
| Plxna4 |
T |
C |
6: 32,473,691 (GRCm39) |
H442R |
probably benign |
Het |
| Polr1b |
A |
G |
2: 128,967,931 (GRCm39) |
D1108G |
probably benign |
Het |
| Prkn |
G |
A |
17: 12,280,434 (GRCm39) |
C430Y |
probably damaging |
Het |
| Sec23ip |
T |
C |
7: 128,364,257 (GRCm39) |
|
probably null |
Het |
| Slc24a3 |
A |
G |
2: 145,086,911 (GRCm39) |
D57G |
probably benign |
Het |
| Sprtn |
T |
G |
8: 125,625,044 (GRCm39) |
F50V |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,803,828 (GRCm39) |
F43S |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,262,727 (GRCm39) |
F17L |
possibly damaging |
Het |
| Taar1 |
G |
T |
10: 23,796,918 (GRCm39) |
M205I |
probably benign |
Het |
| Tas2r143 |
A |
G |
6: 42,377,202 (GRCm39) |
I11V |
probably benign |
Het |
| Tlx1 |
T |
C |
19: 45,139,655 (GRCm39) |
S101P |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,977,503 (GRCm39) |
|
probably null |
Het |
| Vhl |
A |
G |
6: 113,606,451 (GRCm39) |
D156G |
possibly damaging |
Het |
| Washc4 |
T |
A |
10: 83,426,897 (GRCm39) |
D1068E |
probably damaging |
Het |
| Zfp513 |
A |
G |
5: 31,358,076 (GRCm39) |
V101A |
probably benign |
Het |
| Zfp82 |
T |
C |
7: 29,761,669 (GRCm39) |
R71G |
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 |
|
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 |
PCR Primer
(F):5'- CCCTGTGCATTGCAGTAGTAC -3'
(R):5'- TTCTGTCCTCCGGGATTGGAAG -3'
Sequencing Primer
(F):5'- TGCAGTAGTACTCTGTGCACCAG -3'
(R):5'- CCTCCGGGATTGGAAGTAGCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation