Incidental Mutation 'R6270:Mcf2l'
| ID |
507273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
C130040G20Rik, Dbs |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6270 (G1)
|
| Quality Score |
164.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12873806-13020905 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 13018701 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1058
(V1058A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133577
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173099]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095456
AA Change: V1095A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: V1095A
| 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: ENSMUST00000098927
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
| 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: V1043A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: V1043A
| 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: V1043A
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: V1043A
| 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 benign
Transcript: ENSMUST00000110871
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
| 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 benign
Transcript: ENSMUST00000110873
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
| 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: V1121A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: V1121A
| 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 |
possibly damaging
Transcript: ENSMUST00000110879
AA Change: V1065A
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: V1065A
| 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 |
noncoding transcript
Transcript: ENSMUST00000118696
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000123811
AA Change: V234A
|
| SMART Domains |
Protein: ENSMUSP00000123434
Gene: ENSMUSG00000031442
AA Change: V234A
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
1 |
88 |
6.67e-1 |
SMART |
|
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
|
SH3
|
198 |
255 |
3.33e-4 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000126905
AA Change: V752A
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: V752A
| 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 |
noncoding transcript
Transcript: ENSMUST00000127229
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134227
|
| SMART Domains |
Protein: ENSMUSP00000116731
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PH
|
1 |
81 |
1.5e-7 |
PFAM |
|
low complexity region
|
101 |
113 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
247 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134989
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000139776
AA Change: V135A
|
| SMART Domains |
Protein: ENSMUSP00000120946
Gene: ENSMUSG00000031442
AA Change: V135A
| Domain | Start | End | E-Value | Type |
|---|
|
SH3
|
99 |
156 |
3.33e-4 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000145067
AA Change: V1058A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: V1058A
| 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 benign
Transcript: ENSMUST00000145892
|
| SMART Domains |
Protein: ENSMUSP00000114758
Gene: ENSMUSG00000031442
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PH
|
2 |
23 |
1e-6 |
BLAST |
|
PDB:1KZG|C
|
2 |
40 |
1e-19 |
PDB |
|
SCOP:d1kz7a2
|
2 |
40 |
6e-7 |
SMART |
|
low complexity region
|
41 |
53 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173099
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.6%
|
| Validation Efficiency |
98% (51/52) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 8030462N17Rik |
T |
C |
18: 77,674,421 |
D65G |
probably damaging |
Het |
| Acsl6 |
A |
G |
11: 54,352,107 |
E648G |
probably benign |
Het |
| Ak7 |
A |
G |
12: 105,768,701 |
H642R |
probably benign |
Het |
| Akap11 |
T |
C |
14: 78,518,799 |
E53G |
probably damaging |
Het |
| Ddr2 |
T |
G |
1: 169,988,540 |
T533P |
probably benign |
Het |
| Dhx40 |
A |
G |
11: 86,799,605 |
S197P |
possibly damaging |
Het |
| Dolpp1 |
C |
A |
2: 30,392,269 |
|
probably benign |
Het |
| Eng |
A |
G |
2: 32,673,643 |
D347G |
probably benign |
Het |
| Esrra |
C |
T |
19: 6,914,120 |
|
probably null |
Het |
| Fam208b |
C |
T |
13: 3,581,891 |
R870H |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,547,788 |
I159V |
probably damaging |
Het |
| Fn1 |
C |
T |
1: 71,637,275 |
C599Y |
probably damaging |
Het |
| Fnbp4 |
T |
C |
2: 90,757,463 |
V395A |
probably damaging |
Het |
| Foxn3 |
T |
C |
12: 99,388,417 |
R163G |
probably damaging |
Het |
| Gphn |
T |
G |
12: 78,522,950 |
L306R |
probably benign |
Het |
| Gse1 |
T |
C |
8: 120,569,163 |
|
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,306,863 |
D62G |
possibly damaging |
Het |
| Hdac7 |
AGGG |
AGGGG |
15: 97,808,495 |
|
probably null |
Het |
| Hyls1 |
G |
A |
9: 35,561,184 |
S312F |
probably benign |
Het |
| Kit |
A |
G |
5: 75,609,509 |
T194A |
probably benign |
Het |
| Krt16 |
C |
A |
11: 100,247,203 |
A316S |
possibly damaging |
Het |
| Krt7 |
A |
G |
15: 101,419,558 |
D244G |
probably damaging |
Het |
| Lhfpl3 |
T |
A |
5: 23,273,351 |
Y77* |
probably null |
Het |
| Lrrc18 |
A |
T |
14: 33,009,121 |
M206L |
probably benign |
Het |
| Magel2 |
C |
A |
7: 62,380,658 |
C1103* |
probably null |
Het |
| Nbas |
G |
A |
12: 13,324,293 |
A541T |
probably damaging |
Het |
| Nrap |
C |
T |
19: 56,320,198 |
M1485I |
probably benign |
Het |
| Nudt18 |
T |
C |
14: 70,579,390 |
Y145H |
probably benign |
Het |
| Olfr175-ps1 |
A |
T |
16: 58,824,419 |
C97S |
probably damaging |
Het |
| Olfr583 |
T |
C |
7: 103,051,331 |
L11P |
probably benign |
Het |
| Olfr623 |
T |
C |
7: 103,660,413 |
Y279C |
possibly damaging |
Het |
| Otx1 |
C |
A |
11: 21,997,037 |
A91S |
probably damaging |
Het |
| Pcdhb12 |
A |
T |
18: 37,436,785 |
Q328L |
possibly damaging |
Het |
| Pde6c |
T |
C |
19: 38,158,436 |
W431R |
probably damaging |
Het |
| Pga5 |
T |
C |
19: 10,674,861 |
E139G |
probably benign |
Het |
| Pkdrej |
G |
T |
15: 85,821,105 |
S210* |
probably null |
Het |
| Pnpla1 |
G |
A |
17: 28,881,368 |
G403E |
probably benign |
Het |
| Sema3d |
A |
T |
5: 12,448,107 |
M27L |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,688,662 |
S200P |
probably damaging |
Het |
| Sf3b3 |
T |
C |
8: 110,841,820 |
D174G |
probably damaging |
Het |
| Sult1b1 |
A |
T |
5: 87,517,554 |
|
probably null |
Het |
| Tcaf3 |
T |
C |
6: 42,593,791 |
I342M |
probably benign |
Het |
| Tenm3 |
G |
A |
8: 48,367,394 |
T136M |
probably damaging |
Het |
| Tet3 |
T |
C |
6: 83,375,791 |
T1008A |
possibly damaging |
Het |
| Tgif1 |
T |
C |
17: 70,844,866 |
|
probably null |
Het |
| Trav15-2-dv6-2 |
A |
G |
14: 53,649,866 |
D81G |
probably benign |
Het |
| Trpv5 |
T |
A |
6: 41,674,359 |
H251L |
possibly damaging |
Het |
| Ttc14 |
C |
A |
3: 33,800,388 |
T37K |
possibly damaging |
Het |
| Vmn2r80 |
A |
T |
10: 79,194,325 |
I662L |
probably benign |
Het |
| Vmn2r81 |
A |
G |
10: 79,293,815 |
I847V |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,638,364 |
T30A |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,230,951 |
V163M |
probably 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 |
splice site |
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 |
|
IGL03073:Mcf2l
|
APN |
8 |
13000004 |
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 |
|
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 |
|
|
R7947:Mcf2l
|
UTSW |
8 |
13003529 |
splice site |
probably null |
|
|
R8077:Mcf2l
|
UTSW |
8 |
12998494 |
critical splice donor site |
probably null |
|
|
R8083:Mcf2l
|
UTSW |
8 |
13007875 |
splice site |
probably null |
|
|
R8133:Mcf2l
|
UTSW |
8 |
13011487 |
missense |
probably damaging |
1.00 |
|
R8189:Mcf2l
|
UTSW |
8 |
12963164 |
missense |
probably damaging |
0.98 |
|
R8453:Mcf2l
|
UTSW |
8 |
12984956 |
splice site |
probably null |
|
|
R8520:Mcf2l
|
UTSW |
8 |
12880089 |
missense |
probably benign |
|
|
R8865:Mcf2l
|
UTSW |
8 |
12880003 |
missense |
probably benign |
0.00 |
|
R8895:Mcf2l
|
UTSW |
8 |
12984330 |
intron |
probably benign |
|
|
R9081:Mcf2l
|
UTSW |
8 |
13018697 |
missense |
probably damaging |
0.96 |
|
R9143:Mcf2l
|
UTSW |
8 |
13012883 |
splice site |
probably benign |
|
|
R9219:Mcf2l
|
UTSW |
8 |
13011383 |
missense |
probably damaging |
0.98 |
|
R9229:Mcf2l
|
UTSW |
8 |
13013584 |
missense |
probably benign |
0.01 |
|
R9335:Mcf2l
|
UTSW |
8 |
13000812 |
missense |
possibly damaging |
0.92 |
|
R9351:Mcf2l
|
UTSW |
8 |
13000757 |
missense |
possibly damaging |
0.82 |
|
R9406:Mcf2l
|
UTSW |
8 |
13009676 |
missense |
probably damaging |
1.00 |
|
R9442:Mcf2l
|
UTSW |
8 |
12973048 |
missense |
possibly damaging |
0.91 |
|
R9618:Mcf2l
|
UTSW |
8 |
12984320 |
intron |
probably benign |
|
|
X0052:Mcf2l
|
UTSW |
8 |
13018713 |
missense |
possibly damaging |
0.89 |
|
Z1177:Mcf2l
|
UTSW |
8 |
13009654 |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTCAGACATGACCTACTTGTTC -3'
(R):5'- CTGCTTTTAAACGGGCTCTGG -3'
Sequencing Primer
(F):5'- GTGGTCCCACCTCAGACATGATC -3'
(R):5'- TAAACGGGCTCTGGGCTGAG -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation