Incidental Mutation 'R0469:Mcf2l'
| ID |
43133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
038669-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0469 (G1)
|
| Quality Score |
218 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 13047337 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 233
(D233G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106503
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000145067]
[ENSMUST00000110879]
[ENSMUST00000173099]
[ENSMUST00000173006]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095456
AA Change: D263G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: D263G
| 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: D237G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: D237G
| 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: D211G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: D211G
| 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: ENSMUST00000110867
AA Change: D211G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: D211G
| 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: D231G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: D231G
| 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: D74G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: D74G
| 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 |
possibly damaging
Transcript: ENSMUST00000110876
AA Change: D233G
PolyPhen 2
Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: D233G
| 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: ENSMUST00000145067
AA Change: D170G
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: D170G
| 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: ENSMUST00000110879
AA Change: D233G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: D233G
| 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 damaging
Transcript: ENSMUST00000173099
AA Change: D229G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: D229G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173006
AA Change: D142G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: D142G
| 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 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 |
|
| Meta Mutation Damage Score |
0.2167 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.3%
|
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg3 |
A |
G |
5: 105,125,482 (GRCm39) |
I67T |
probably damaging |
Het |
| Acoxl |
G |
A |
2: 127,722,423 (GRCm39) |
|
probably null |
Het |
| Adam10 |
T |
A |
9: 70,655,530 (GRCm39) |
W333R |
probably damaging |
Het |
| Ahnak |
C |
T |
19: 8,995,596 (GRCm39) |
R5627* |
probably null |
Het |
| Alms1 |
A |
T |
6: 85,597,351 (GRCm39) |
R1195* |
probably null |
Het |
| Arih2 |
T |
A |
9: 108,482,291 (GRCm39) |
H490L |
possibly damaging |
Het |
| Arpc1b |
T |
A |
5: 145,064,525 (GRCm39) |
W361R |
probably damaging |
Het |
| B3gntl1 |
A |
T |
11: 121,563,851 (GRCm39) |
V3D |
probably benign |
Het |
| Baiap2l1 |
T |
C |
5: 144,212,701 (GRCm39) |
Y438C |
probably damaging |
Het |
| Bicc1 |
C |
A |
10: 70,915,045 (GRCm39) |
R73L |
probably benign |
Het |
| Ccdc110 |
T |
A |
8: 46,388,194 (GRCm39) |
N50K |
probably benign |
Het |
| Ccdc168 |
T |
A |
1: 44,100,257 (GRCm39) |
K280N |
possibly damaging |
Het |
| Cep76 |
A |
T |
18: 67,767,850 (GRCm39) |
N227K |
probably benign |
Het |
| Col6a4 |
A |
T |
9: 105,957,746 (GRCm39) |
V26D |
probably damaging |
Het |
| Cpe |
T |
A |
8: 65,064,501 (GRCm39) |
I233F |
probably damaging |
Het |
| Cpsf2 |
T |
C |
12: 101,955,045 (GRCm39) |
V272A |
probably damaging |
Het |
| Defa34 |
A |
G |
8: 22,155,988 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,520,856 (GRCm39) |
R1892G |
probably damaging |
Het |
| Efr3b |
G |
T |
12: 4,032,058 (GRCm39) |
D183E |
probably benign |
Het |
| Epyc |
A |
G |
10: 97,485,625 (GRCm39) |
T22A |
probably benign |
Het |
| Fam83a |
C |
A |
15: 57,873,322 (GRCm39) |
Q384K |
probably benign |
Het |
| Fam83b |
G |
T |
9: 76,400,108 (GRCm39) |
L332I |
possibly damaging |
Het |
| Ggn |
C |
T |
7: 28,870,721 (GRCm39) |
P47S |
probably damaging |
Het |
| Gli3 |
T |
G |
13: 15,899,370 (GRCm39) |
L919R |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,751,997 (GRCm39) |
I3144V |
probably benign |
Het |
| Gpr108 |
T |
C |
17: 57,542,358 (GRCm39) |
D549G |
possibly damaging |
Het |
| Gpr39 |
C |
T |
1: 125,605,237 (GRCm39) |
T55M |
probably damaging |
Het |
| Grk4 |
A |
G |
5: 34,873,557 (GRCm39) |
T208A |
probably damaging |
Het |
| Gucy2e |
T |
C |
11: 69,126,402 (GRCm39) |
D326G |
probably benign |
Het |
| H2-Eb2 |
C |
T |
17: 34,553,218 (GRCm39) |
Q135* |
probably null |
Het |
| Hectd4 |
T |
A |
5: 121,419,959 (GRCm39) |
Y635N |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,443,736 (GRCm39) |
E1319K |
possibly damaging |
Het |
| Hnrnph3 |
T |
A |
10: 62,853,994 (GRCm39) |
R41S |
probably benign |
Het |
| Hnrnph3 |
T |
A |
10: 62,855,279 (GRCm39) |
D2V |
probably damaging |
Het |
| Hs3st2 |
T |
C |
7: 121,099,792 (GRCm39) |
S213P |
probably damaging |
Het |
| Ikbkb |
A |
T |
8: 23,161,651 (GRCm39) |
C412* |
probably null |
Het |
| Kctd21 |
T |
C |
7: 96,996,748 (GRCm39) |
F74L |
probably damaging |
Het |
| Krt23 |
T |
A |
11: 99,377,608 (GRCm39) |
I133L |
probably damaging |
Het |
| Krt74 |
T |
C |
15: 101,671,751 (GRCm39) |
|
noncoding transcript |
Het |
| Lmtk3 |
T |
A |
7: 45,443,536 (GRCm39) |
L740M |
possibly damaging |
Het |
| Lrrc10 |
T |
A |
10: 116,881,695 (GRCm39) |
L123Q |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,136,255 (GRCm39) |
H2357L |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,738,619 (GRCm39) |
N3524S |
probably benign |
Het |
| Msto1 |
A |
G |
3: 88,818,848 (GRCm39) |
L269P |
probably benign |
Het |
| Naca |
C |
T |
10: 127,880,659 (GRCm39) |
A1897V |
probably benign |
Het |
| Or1j10 |
A |
T |
2: 36,267,474 (GRCm39) |
I229F |
probably benign |
Het |
| Or4a39 |
A |
T |
2: 89,237,135 (GRCm39) |
M96K |
probably damaging |
Het |
| Or5w15 |
A |
G |
2: 87,567,825 (GRCm39) |
V281A |
probably damaging |
Het |
| Or8b12i |
T |
C |
9: 20,082,561 (GRCm39) |
Y102C |
probably benign |
Het |
| Pdzrn3 |
A |
T |
6: 101,128,014 (GRCm39) |
I884N |
probably damaging |
Het |
| Phf24 |
G |
T |
4: 42,933,761 (GRCm39) |
V48L |
possibly damaging |
Het |
| Pkn1 |
C |
A |
8: 84,398,953 (GRCm39) |
C678F |
probably damaging |
Het |
| Pla2g4a |
T |
A |
1: 149,716,398 (GRCm39) |
M688L |
possibly damaging |
Het |
| Ppp1r3c |
A |
T |
19: 36,711,617 (GRCm39) |
F51Y |
possibly damaging |
Het |
| Psen2 |
T |
C |
1: 180,066,479 (GRCm39) |
T153A |
probably damaging |
Het |
| Rbmx |
C |
T |
X: 56,436,926 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
A |
G |
14: 33,684,376 (GRCm39) |
K1135R |
possibly damaging |
Het |
| Slco2b1 |
T |
A |
7: 99,310,743 (GRCm39) |
M603L |
probably benign |
Het |
| Sncaip |
A |
G |
18: 53,001,781 (GRCm39) |
T101A |
probably benign |
Het |
| Ssh1 |
A |
T |
5: 114,084,766 (GRCm39) |
D448E |
probably benign |
Het |
| Ssmem1 |
A |
T |
6: 30,519,547 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,961,920 (GRCm39) |
V47A |
probably damaging |
Het |
| Sv2b |
T |
G |
7: 74,786,140 (GRCm39) |
M427L |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,317,600 (GRCm39) |
L498P |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,900,923 (GRCm39) |
|
probably null |
Het |
| Taf6l |
G |
T |
19: 8,755,885 (GRCm39) |
H254Q |
probably benign |
Het |
| Tas2r123 |
T |
C |
6: 132,824,295 (GRCm39) |
V64A |
probably benign |
Het |
| Tm9sf1 |
A |
T |
14: 55,878,886 (GRCm39) |
F169I |
possibly damaging |
Het |
| Tmpo |
A |
C |
10: 90,998,958 (GRCm39) |
I276M |
probably benign |
Het |
| Tnnc1 |
A |
G |
14: 30,933,365 (GRCm39) |
D149G |
probably damaging |
Het |
| Tpr |
AAGAGAGAGAGAGAG |
AAGAGAGAGAGAG |
1: 150,299,418 (GRCm39) |
|
probably null |
Het |
| Traf3ip3 |
T |
A |
1: 192,860,539 (GRCm39) |
|
probably null |
Het |
| Trim55 |
G |
T |
3: 19,725,256 (GRCm39) |
V258L |
possibly damaging |
Het |
| Trpm1 |
G |
A |
7: 63,873,506 (GRCm39) |
G587D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,560,756 (GRCm39) |
V29215A |
probably damaging |
Het |
| Ube2u |
A |
G |
4: 100,343,870 (GRCm39) |
I90V |
probably benign |
Het |
| Upb1 |
T |
C |
10: 75,250,917 (GRCm39) |
|
probably null |
Het |
| Vmn2r57 |
A |
T |
7: 41,077,216 (GRCm39) |
S317T |
possibly damaging |
Het |
| Wdr73 |
G |
A |
7: 80,547,698 (GRCm39) |
Q107* |
probably null |
Het |
| Zfp628 |
A |
T |
7: 4,922,732 (GRCm39) |
Q318L |
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 |
|
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 |
|
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'- TTGCAAAGCCTGCCTTGTACATTTC -3'
(R):5'- AGTGTCCTATCAAGAGCCCCAGAG -3'
Sequencing Primer
(F):5'- CCTTTCCAAGAACAGTCATGGTG -3'
(R):5'- CAGAGACACATTTACTTCTGGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation