Incidental Mutation 'IGL03073:Mcf2l'
| ID | 417589 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Mcf2l
|
|---|
| Ensembl Gene |
ENSMUSG00000031442 |
|---|
| Gene Name | mcf.2 transforming sequence-like |
|---|
| Synonyms | C130040G20Rik, Dbs |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Non essential (E-score: 0.000)
|
|---|
| Stock # | IGL03073
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 8 |
|---|
| Chromosomal Location | 12873806-13020905 bp(+) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
C to A
at 13000004 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Histidine to Asparagine
at position 313
(H313N)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106503
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173006]
[ENSMUST00000173099]
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095456
AA Change: H343N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: H343N
| 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 damaging
Transcript: ENSMUST00000098927
AA Change: H317N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: H317N
| 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 |
probably damaging
Transcript: ENSMUST00000110866
AA Change: H291N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: H291N
| 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: H291N
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: H291N
| 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: H311N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: H311N
| 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 |
probably damaging
Transcript: ENSMUST00000110873
AA Change: H154N
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: H154N
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
165 |
266 |
4.41e-15 |
SMART |
|
coiled coil region
|
318 |
340 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
405 |
N/A |
INTRINSIC |
|
RhoGEF
|
447 |
622 |
2.83e-63 |
SMART |
|
PH
|
642 |
759 |
8.13e-14 |
SMART |
|
low complexity region
|
777 |
789 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110876
AA Change: H313N
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: H313N
| 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: H313N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: H313N
| 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: ENSMUST00000126905
|
|---|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
SPEC
|
5 |
88 |
8.25e-6 |
SMART |
|
coiled coil region
|
139 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
227 |
N/A |
INTRINSIC |
|
RhoGEF
|
269 |
444 |
2.83e-63 |
SMART |
|
PH
|
464 |
581 |
8.13e-14 |
SMART |
|
low complexity region
|
599 |
611 |
N/A |
INTRINSIC |
|
SH3
|
716 |
773 |
3.33e-4 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145067
AA Change: H250N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: H250N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
16 |
132 |
2.4e-12 |
PFAM |
|
SPEC
|
261 |
362 |
4.41e-15 |
SMART |
|
coiled coil region
|
414 |
436 |
N/A |
INTRINSIC |
|
low complexity region
|
485 |
501 |
N/A |
INTRINSIC |
|
RhoGEF
|
543 |
718 |
2.83e-63 |
SMART |
|
PH
|
738 |
855 |
8.13e-14 |
SMART |
|
low complexity region
|
873 |
885 |
N/A |
INTRINSIC |
|
SH3
|
1021 |
1078 |
3.33e-4 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173006
AA Change: H222N
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: H222N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CRAL_TRIO_2
|
1 |
104 |
1.3e-12 |
PFAM |
|
SPEC
|
233 |
334 |
4.41e-15 |
SMART |
|
coiled coil region
|
386 |
408 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
RhoGEF
|
515 |
690 |
2.83e-63 |
SMART |
|
|---|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000173099
AA Change: H309N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: H309N
| 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 |
|
|---|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930504O13Rik |
A |
T |
11: 58,447,451 |
D38E |
probably damaging |
Het |
| 4933440M02Rik |
T |
C |
7: 125,331,563 |
|
noncoding transcript |
Het |
| Actr6 |
A |
G |
10: 89,726,694 |
S108P |
probably damaging |
Het |
| Adam34 |
A |
T |
8: 43,650,903 |
N568K |
probably damaging |
Het |
| Anpep |
A |
G |
7: 79,838,955 |
L408P |
probably damaging |
Het |
| Atp13a1 |
T |
C |
8: 69,798,502 |
V459A |
probably damaging |
Het |
| Atp2b1 |
C |
T |
10: 98,999,851 |
T486M |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 180,094,376 |
|
probably benign |
Het |
| Espnl |
T |
C |
1: 91,344,556 |
I502T |
probably damaging |
Het |
| Fancm |
T |
C |
12: 65,101,632 |
Y674H |
probably damaging |
Het |
| Gnaq |
T |
A |
19: 16,316,106 |
N137K |
probably benign |
Het |
| Igf1r |
T |
A |
7: 68,215,043 |
D1196E |
probably damaging |
Het |
| Insrr |
A |
G |
3: 87,809,938 |
|
probably benign |
Het |
| Mdh1b |
C |
T |
1: 63,721,487 |
|
probably null |
Het |
| Mrc1 |
G |
A |
2: 14,305,342 |
V805I |
probably damaging |
Het |
| Ncam2 |
T |
G |
16: 81,621,347 |
D763E |
possibly damaging |
Het |
| Ncapg2 |
T |
G |
12: 116,452,274 |
H1091Q |
probably benign |
Het |
| Olfr1098 |
A |
G |
2: 86,923,353 |
Y60H |
probably damaging |
Het |
| Olfr1466 |
T |
G |
19: 13,342,022 |
I88R |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,753,367 |
D886V |
possibly damaging |
Het |
| Pdlim4 |
A |
G |
11: 54,063,641 |
V21A |
probably damaging |
Het |
| Safb2 |
A |
G |
17: 56,571,289 |
S24P |
probably benign |
Het |
| Sec16a |
A |
G |
2: 26,439,183 |
M940T |
probably benign |
Het |
| Snx14 |
A |
G |
9: 88,422,896 |
|
probably null |
Het |
| Sox1 |
T |
C |
8: 12,396,625 |
W89R |
probably damaging |
Het |
| Stx12 |
T |
C |
4: 132,858,449 |
M207V |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,535,609 |
T1154A |
probably damaging |
Het |
| Tmcc3 |
T |
G |
10: 94,578,951 |
S172A |
probably benign |
Het |
| Tnc |
T |
A |
4: 63,971,224 |
I1773F |
possibly damaging |
Het |
| Tshz3 |
A |
T |
7: 36,770,745 |
N720Y |
probably damaging |
Het |
| Usp19 |
G |
A |
9: 108,495,803 |
|
probably benign |
Het |
| Vmn1r170 |
A |
C |
7: 23,606,848 |
Q225P |
probably damaging |
Het |
| Vmn2r89 |
A |
G |
14: 51,456,071 |
I293V |
possibly damaging |
Het |
|
|---|
| Other mutations in Mcf2l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00402:Mcf2l
|
APN |
8 |
13000857 |
missense |
probably damaging |
0.98 |
|
IGL00426:Mcf2l
|
APN |
8 |
12984910 |
missense |
probably damaging |
1.00 |
|
IGL01391:Mcf2l
|
APN |
8 |
13014010 |
splice site |
probably null |
|
|
IGL01795:Mcf2l
|
APN |
8 |
13000749 |
unclassified |
probably null |
|
|
IGL02314:Mcf2l
|
APN |
8 |
13001851 |
missense |
probably damaging |
0.99 |
|
IGL02716:Mcf2l
|
APN |
8 |
12997277 |
missense |
probably benign |
0.19 |
|
IGL02985:Mcf2l
|
APN |
8 |
12963239 |
missense |
probably damaging |
1.00 |
|
IGL03308:Mcf2l
|
APN |
8 |
13009512 |
missense |
probably damaging |
1.00 |
|
IGL03371:Mcf2l
|
APN |
8 |
13001298 |
missense |
probably damaging |
1.00 |
|
P0022:Mcf2l
|
UTSW |
8 |
13018897 |
nonsense |
probably null |
|
|
R0062:Mcf2l
|
UTSW |
8 |
13006766 |
unclassified |
probably benign |
|
|
R0067:Mcf2l
|
UTSW |
8 |
13013060 |
missense |
probably benign |
0.01 |
|
R0110:Mcf2l
|
UTSW |
8 |
12997337 |
missense |
probably damaging |
1.00 |
|
R0450:Mcf2l
|
UTSW |
8 |
12997337 |
missense |
probably damaging |
1.00 |
|
R0469:Mcf2l
|
UTSW |
8 |
12997337 |
missense |
probably damaging |
1.00 |
|
R0510:Mcf2l
|
UTSW |
8 |
12997337 |
missense |
probably damaging |
1.00 |
|
R0543:Mcf2l
|
UTSW |
8 |
12996728 |
critical splice donor site |
probably null |
|
|
R0591:Mcf2l
|
UTSW |
8 |
13018751 |
missense |
probably benign |
0.11 |
|
R0801:Mcf2l
|
UTSW |
8 |
13014020 |
intron |
probably benign |
|
|
R0962:Mcf2l
|
UTSW |
8 |
13001964 |
missense |
probably benign |
0.14 |
|
R1084:Mcf2l
|
UTSW |
8 |
13002645 |
missense |
possibly damaging |
0.94 |
|
R1794:Mcf2l
|
UTSW |
8 |
12915982 |
missense |
probably benign |
0.33 |
|
R2111:Mcf2l
|
UTSW |
8 |
13001867 |
missense |
probably damaging |
0.99 |
|
R2112:Mcf2l
|
UTSW |
8 |
13001867 |
missense |
probably damaging |
0.99 |
|
R3785:Mcf2l
|
UTSW |
8 |
12880099 |
missense |
probably damaging |
0.97 |
|
R4777:Mcf2l
|
UTSW |
8 |
13018051 |
splice site |
probably null |
|
|
R4858:Mcf2l
|
UTSW |
8 |
13013972 |
missense |
probably damaging |
1.00 |
|
R4980:Mcf2l
|
UTSW |
8 |
12984883 |
missense |
probably damaging |
1.00 |
|
R5021:Mcf2l
|
UTSW |
8 |
13011808 |
missense |
probably damaging |
1.00 |
|
R5067:Mcf2l
|
UTSW |
8 |
12915959 |
intron |
probably benign |
|
|
R5158:Mcf2l
|
UTSW |
8 |
13009715 |
missense |
probably damaging |
1.00 |
|
R5439:Mcf2l
|
UTSW |
8 |
12926646 |
missense |
possibly damaging |
0.85 |
|
R5569:Mcf2l
|
UTSW |
8 |
13005481 |
missense |
probably damaging |
1.00 |
|
R5655:Mcf2l
|
UTSW |
8 |
13010444 |
missense |
probably damaging |
0.98 |
|
R5668:Mcf2l
|
UTSW |
8 |
13013812 |
nonsense |
probably null |
|
|
R5753:Mcf2l
|
UTSW |
8 |
12999993 |
missense |
probably damaging |
1.00 |
|
R5808:Mcf2l
|
UTSW |
8 |
12993937 |
start codon destroyed |
probably null |
0.92 |
|
R5946:Mcf2l
|
UTSW |
8 |
13013922 |
missense |
probably damaging |
1.00 |
|
R6168:Mcf2l
|
UTSW |
8 |
13001823 |
missense |
probably benign |
0.05 |
|
R6174:Mcf2l
|
UTSW |
8 |
13013849 |
nonsense |
probably null |
|
|
R6212:Mcf2l
|
UTSW |
8 |
13017431 |
missense |
probably damaging |
1.00 |
|
R6270:Mcf2l
|
UTSW |
8 |
13018701 |
missense |
probably damaging |
0.99 |
|
R6383:Mcf2l
|
UTSW |
8 |
12879912 |
start gained |
probably benign |
|
|
R6850:Mcf2l
|
UTSW |
8 |
13009476 |
missense |
possibly damaging |
0.82 |
|
R6908:Mcf2l
|
UTSW |
8 |
13018919 |
missense |
probably benign |
|
|
R7101:Mcf2l
|
UTSW |
8 |
13013579 |
missense |
possibly damaging |
0.80 |
|
R7163:Mcf2l
|
UTSW |
8 |
12915439 |
missense |
probably benign |
0.00 |
|
R7203:Mcf2l
|
UTSW |
8 |
13010456 |
missense |
probably benign |
0.09 |
|
R7414:Mcf2l
|
UTSW |
8 |
13019022 |
makesense |
probably null |
|
|
R7553:Mcf2l
|
UTSW |
8 |
12997268 |
missense |
probably benign |
|
|
R7556:Mcf2l
|
UTSW |
8 |
12973071 |
missense |
probably damaging |
0.99 |
|
R7688:Mcf2l
|
UTSW |
8 |
12948130 |
missense |
possibly damaging |
0.74 |
|
R7776:Mcf2l
|
UTSW |
8 |
12880127 |
missense |
probably benign |
|
|
X0052:Mcf2l
|
UTSW |
8 |
13018713 |
missense |
possibly damaging |
0.89 |
|
|---|
| Posted On | 2016-08-02 |
|---|
