Incidental Mutation 'R9442:Mcf2l'
ID |
713686 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mcf2l
|
Ensembl Gene |
ENSMUSG00000031442 |
Gene Name |
mcf.2 transforming sequence-like |
Synonyms |
Dbs, C130040G20Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9442 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 13023048 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 78
(D78G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000106500
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000173099]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000095456
AA Change: D108G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000093108 Gene: ENSMUSG00000031442 AA Change: D108G
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 |
possibly damaging
Transcript: ENSMUST00000098927
AA Change: D82G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000096528 Gene: ENSMUSG00000031442 AA Change: D82G
Domain | Start | End | E-Value | Type |
SEC14
|
49 |
195 |
1.77e-24 |
SMART |
SPEC
|
328 |
429 |
4.41e-15 |
SMART |
coiled coil region
|
481 |
503 |
N/A |
INTRINSIC |
low complexity region
|
552 |
568 |
N/A |
INTRINSIC |
RhoGEF
|
610 |
785 |
2.83e-63 |
SMART |
PH
|
805 |
922 |
8.13e-14 |
SMART |
low complexity region
|
940 |
952 |
N/A |
INTRINSIC |
low complexity region
|
1022 |
1033 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110866
AA Change: D56G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106490 Gene: ENSMUSG00000031442 AA Change: D56G
Domain | Start | End | E-Value | Type |
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
PH
|
779 |
896 |
8.13e-14 |
SMART |
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110867
AA Change: D56G
PolyPhen 2
Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000106491 Gene: ENSMUSG00000031442 AA Change: D56G
Domain | Start | End | E-Value | Type |
SEC14
|
23 |
169 |
1.77e-24 |
SMART |
SPEC
|
302 |
403 |
4.41e-15 |
SMART |
coiled coil region
|
455 |
477 |
N/A |
INTRINSIC |
low complexity region
|
526 |
542 |
N/A |
INTRINSIC |
RhoGEF
|
584 |
759 |
2.83e-63 |
SMART |
PH
|
779 |
896 |
8.13e-14 |
SMART |
low complexity region
|
914 |
926 |
N/A |
INTRINSIC |
SH3
|
1006 |
1063 |
3.33e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000110871
AA Change: D76G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000106495 Gene: ENSMUSG00000031442 AA Change: D76G
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
SEC14
|
43 |
189 |
1.77e-24 |
SMART |
SPEC
|
322 |
423 |
4.41e-15 |
SMART |
coiled coil region
|
475 |
497 |
N/A |
INTRINSIC |
low complexity region
|
546 |
562 |
N/A |
INTRINSIC |
RhoGEF
|
604 |
779 |
2.83e-63 |
SMART |
PH
|
799 |
916 |
8.13e-14 |
SMART |
low complexity region
|
934 |
946 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110876
AA Change: D78G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000106500 Gene: ENSMUSG00000031442 AA Change: D78G
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 damaging
Transcript: ENSMUST00000110879
AA Change: D78G
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000106503 Gene: ENSMUSG00000031442 AA Change: D78G
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 |
possibly damaging
Transcript: ENSMUST00000173099
AA Change: D74G
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000133776 Gene: ENSMUSG00000031442 AA Change: D74G
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: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (44/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
A |
17: 48,347,580 (GRCm39) |
K241N |
possibly damaging |
Het |
Adam5 |
A |
T |
8: 25,296,510 (GRCm39) |
S312R |
probably damaging |
Het |
Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
Cage1 |
T |
C |
13: 38,196,447 (GRCm39) |
E749G |
possibly damaging |
Het |
Catspere2 |
C |
A |
1: 177,931,275 (GRCm39) |
T398K |
unknown |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Ccndbp1 |
T |
C |
2: 120,839,013 (GRCm39) |
V8A |
probably benign |
Het |
Cenpt |
T |
C |
8: 106,575,418 (GRCm39) |
D228G |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
T |
A |
4: 115,468,422 (GRCm39) |
N301K |
probably benign |
Het |
Epha6 |
T |
C |
16: 60,025,850 (GRCm39) |
T531A |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,962,156 (GRCm39) |
C168S |
probably damaging |
Het |
H2-DMa |
G |
A |
17: 34,357,132 (GRCm39) |
R210H |
possibly damaging |
Het |
Ighv1-7 |
T |
G |
12: 114,502,198 (GRCm39) |
T90P |
probably damaging |
Het |
Kalrn |
A |
C |
16: 33,916,249 (GRCm39) |
M1R |
probably null |
Het |
Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
Krtap14 |
T |
C |
16: 88,622,865 (GRCm39) |
D38G |
possibly damaging |
Het |
Lrrc8e |
A |
G |
8: 4,283,964 (GRCm39) |
N63S |
probably benign |
Het |
Map4k2 |
T |
A |
19: 6,392,814 (GRCm39) |
L152Q |
probably damaging |
Het |
Ms4a6c |
T |
C |
19: 11,449,851 (GRCm39) |
V81A |
probably benign |
Het |
Mtnr1b |
T |
C |
9: 15,785,660 (GRCm39) |
T33A |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,566,624 (GRCm39) |
Q1965L |
unknown |
Het |
Nfatc2 |
A |
C |
2: 168,328,898 (GRCm39) |
|
probably benign |
Het |
Nlrp9b |
C |
T |
7: 19,779,707 (GRCm39) |
T790I |
possibly damaging |
Het |
Nol4 |
A |
T |
18: 22,902,899 (GRCm39) |
C371S |
probably damaging |
Het |
Ntn1 |
A |
C |
11: 68,148,485 (GRCm39) |
|
probably benign |
Het |
Or14j3 |
A |
G |
17: 37,900,633 (GRCm39) |
S204P |
possibly damaging |
Het |
Orc1 |
T |
C |
4: 108,469,357 (GRCm39) |
V727A |
probably benign |
Het |
Phf20l1 |
C |
T |
15: 66,484,888 (GRCm39) |
Q318* |
probably null |
Het |
Psg18 |
A |
T |
7: 18,083,185 (GRCm39) |
Y323* |
probably null |
Het |
Ptk2b |
T |
C |
14: 66,409,189 (GRCm39) |
Y529C |
probably damaging |
Het |
Rrm1 |
A |
G |
7: 102,108,598 (GRCm39) |
Y374C |
probably damaging |
Het |
Selp |
T |
A |
1: 163,964,765 (GRCm39) |
F476I |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,478,957 (GRCm39) |
|
probably null |
Het |
Setdb2 |
T |
G |
14: 59,639,849 (GRCm39) |
T665P |
probably damaging |
Het |
Sorbs3 |
T |
C |
14: 70,424,387 (GRCm39) |
Y515C |
probably damaging |
Het |
St13 |
G |
A |
15: 81,272,575 (GRCm39) |
P90S |
possibly damaging |
Het |
Stag1 |
T |
A |
9: 100,836,306 (GRCm39) |
I1197N |
probably damaging |
Het |
Svs3a |
A |
G |
2: 164,132,179 (GRCm39) |
Y250C |
probably damaging |
Het |
Ticam1 |
T |
C |
17: 56,577,428 (GRCm39) |
I556V |
probably benign |
Het |
Vmn1r180 |
A |
G |
7: 23,651,620 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,342,235 (GRCm39) |
L1492* |
probably null |
Het |
Zfp438 |
A |
G |
18: 5,214,379 (GRCm39) |
V193A |
probably benign |
Het |
Zfp729b |
A |
G |
13: 67,739,337 (GRCm39) |
V976A |
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 |
|
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 |
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'- ACGGACCTGTGGTTCTTTTCT -3'
(R):5'- AGGCCCTGTAACAGTGGACT -3'
Sequencing Primer
(F):5'- AAGGGTTTGGCTCCCACAATC -3'
(R):5'- CTGTAACAGTGGACTCTGAGC -3'
|
Posted On |
2022-06-15 |