Incidental Mutation 'R2111:Mcf2l'
| ID |
232552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mcf2l
|
| Ensembl Gene |
ENSMUSG00000031442 |
| Gene Name |
mcf.2 transforming sequence-like |
| Synonyms |
Dbs, C130040G20Rik |
| MMRRC Submission |
040115-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 13051867 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 433
(K433N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106491
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095456]
[ENSMUST00000098927]
[ENSMUST00000110866]
[ENSMUST00000110867]
[ENSMUST00000110871]
[ENSMUST00000110873]
[ENSMUST00000110876]
[ENSMUST00000110879]
[ENSMUST00000145067]
[ENSMUST00000173006]
[ENSMUST00000173099]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095456
AA Change: K485N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: K485N
| 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: K459N
PolyPhen 2
Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: K459N
| 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: K433N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: K433N
| 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: K433N
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: K433N
| 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: K453N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: K453N
| 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: ENSMUST00000110873
AA Change: K296N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: K296N
| 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: K455N
PolyPhen 2
Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: K455N
| 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 |
unknown
Transcript: ENSMUST00000126905
AA Change: K117N
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: K117N
| 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: ENSMUST00000110879
AA Change: K455N
PolyPhen 2
Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: K455N
| 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: ENSMUST00000145067
AA Change: K392N
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: K392N
| 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: K364N
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: K364N
| 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 |
possibly damaging
Transcript: ENSMUST00000173099
AA Change: K451N
PolyPhen 2
Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: K451N
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
100% (86/86) |
| 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: 89 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330161L09Rik |
T |
C |
12: 103,373,848 (GRCm39) |
|
probably benign |
Het |
| Abca2 |
A |
T |
2: 25,327,517 (GRCm39) |
I669F |
possibly damaging |
Het |
| Adam9 |
C |
T |
8: 25,472,142 (GRCm39) |
|
probably benign |
Het |
| Adprhl1 |
A |
G |
8: 13,298,694 (GRCm39) |
Y79H |
probably damaging |
Het |
| Akp3 |
A |
T |
1: 87,054,607 (GRCm39) |
|
probably null |
Het |
| Alpk2 |
T |
C |
18: 65,482,845 (GRCm39) |
S388G |
probably benign |
Het |
| Amph |
G |
A |
13: 19,300,436 (GRCm39) |
|
probably benign |
Het |
| Arr3 |
T |
A |
X: 99,658,247 (GRCm39) |
F269L |
possibly damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,597,609 (GRCm39) |
F808S |
probably damaging |
Het |
| Baz1a |
T |
A |
12: 54,958,170 (GRCm39) |
N1027I |
probably damaging |
Het |
| C2cd4c |
G |
T |
10: 79,448,255 (GRCm39) |
H297Q |
probably damaging |
Het |
| Calr3 |
T |
A |
8: 73,181,112 (GRCm39) |
D160V |
probably damaging |
Het |
| Cdc42ep1 |
C |
T |
15: 78,731,692 (GRCm39) |
R46C |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,141,362 (GRCm39) |
F3127L |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,702,417 (GRCm39) |
|
probably benign |
Het |
| Cps1 |
T |
A |
1: 67,216,139 (GRCm39) |
D821E |
probably benign |
Het |
| Cyp2e1 |
C |
A |
7: 140,353,547 (GRCm39) |
T328K |
probably damaging |
Het |
| Dcp1a |
T |
C |
14: 30,241,327 (GRCm39) |
V379A |
probably benign |
Het |
| Dst |
T |
C |
1: 34,208,259 (GRCm39) |
S737P |
probably damaging |
Het |
| Dtx2 |
C |
T |
5: 136,059,431 (GRCm39) |
S493F |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,174,699 (GRCm39) |
|
probably null |
Het |
| Ercc6l2 |
A |
G |
13: 63,982,563 (GRCm39) |
T126A |
probably damaging |
Het |
| Fgf6 |
T |
C |
6: 126,992,723 (GRCm39) |
S59P |
probably damaging |
Het |
| Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
| Gapvd1 |
G |
T |
2: 34,574,329 (GRCm39) |
A1256D |
probably benign |
Het |
| Gcfc2 |
C |
A |
6: 81,900,759 (GRCm39) |
D24E |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,368,452 (GRCm39) |
H1044R |
probably damaging |
Het |
| Gk2 |
T |
C |
5: 97,604,164 (GRCm39) |
I225V |
probably benign |
Het |
| Gm3944 |
C |
A |
12: 18,903,895 (GRCm39) |
S8* |
probably null |
Het |
| Gnl3l |
A |
G |
X: 149,780,290 (GRCm39) |
S217P |
probably damaging |
Het |
| Gpr156 |
A |
G |
16: 37,799,113 (GRCm39) |
D109G |
probably benign |
Het |
| Hoxd1 |
A |
T |
2: 74,593,710 (GRCm39) |
T89S |
probably benign |
Het |
| Ift172 |
G |
A |
5: 31,443,423 (GRCm39) |
T112M |
probably benign |
Het |
| Igkv1-115 |
C |
A |
6: 68,138,613 (GRCm39) |
S72* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,542,341 (GRCm39) |
E247G |
probably damaging |
Het |
| Insr |
A |
G |
8: 3,219,748 (GRCm39) |
S925P |
probably benign |
Het |
| Itpr1 |
T |
G |
6: 108,355,270 (GRCm39) |
|
probably benign |
Het |
| Khdrbs3 |
C |
T |
15: 68,896,673 (GRCm39) |
T111I |
probably benign |
Het |
| Mageb3 |
A |
G |
2: 121,785,306 (GRCm39) |
|
probably null |
Het |
| Mdn1 |
A |
G |
4: 32,700,409 (GRCm39) |
E1456G |
probably damaging |
Het |
| Mta1 |
C |
T |
12: 113,095,248 (GRCm39) |
T467I |
probably damaging |
Het |
| Mtr |
A |
T |
13: 12,259,487 (GRCm39) |
I196N |
possibly damaging |
Het |
| Mtus1 |
G |
T |
8: 41,475,608 (GRCm39) |
P819T |
probably damaging |
Het |
| Myh1 |
G |
A |
11: 67,105,446 (GRCm39) |
D1079N |
possibly damaging |
Het |
| Nav1 |
C |
T |
1: 135,376,742 (GRCm39) |
R1694Q |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,174,275 (GRCm39) |
I1528T |
probably benign |
Het |
| Nek1 |
T |
A |
8: 61,577,360 (GRCm39) |
|
probably null |
Het |
| Nes |
A |
G |
3: 87,884,618 (GRCm39) |
E915G |
probably benign |
Het |
| Nlrp4f |
T |
C |
13: 65,347,167 (GRCm39) |
I30M |
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,837,404 (GRCm39) |
S1273P |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,150,951 (GRCm39) |
I334V |
probably benign |
Het |
| Or10j2 |
A |
T |
1: 173,097,879 (GRCm39) |
M46L |
probably benign |
Het |
| Or1e1f |
A |
G |
11: 73,855,740 (GRCm39) |
Y102C |
probably damaging |
Het |
| Or5b3 |
G |
A |
19: 13,388,307 (GRCm39) |
A125T |
probably damaging |
Het |
| Or5d41 |
A |
G |
2: 88,054,818 (GRCm39) |
V186A |
possibly damaging |
Het |
| Or6d13 |
T |
C |
6: 116,517,611 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Or8b46 |
T |
A |
9: 38,450,576 (GRCm39) |
N128K |
probably benign |
Het |
| Or8k38 |
G |
T |
2: 86,488,781 (GRCm39) |
T7K |
probably damaging |
Het |
| Parn |
G |
A |
16: 13,420,933 (GRCm39) |
S473L |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
| Pja2 |
T |
A |
17: 64,597,031 (GRCm39) |
D553V |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,185,602 (GRCm39) |
F3004L |
probably damaging |
Het |
| Rasgrp3 |
T |
C |
17: 75,807,753 (GRCm39) |
|
probably null |
Het |
| Rdh13 |
A |
G |
7: 4,448,482 (GRCm39) |
V10A |
probably benign |
Het |
| Rimbp2 |
T |
C |
5: 128,850,565 (GRCm39) |
Y906C |
probably damaging |
Het |
| Ripor1 |
T |
C |
8: 106,341,344 (GRCm39) |
F59S |
probably damaging |
Het |
| Rnf185 |
T |
C |
11: 3,382,393 (GRCm39) |
|
probably benign |
Het |
| Runx3 |
T |
C |
4: 134,882,627 (GRCm39) |
V107A |
probably damaging |
Het |
| Scn3b |
T |
C |
9: 40,193,741 (GRCm39) |
V156A |
probably benign |
Het |
| Serpina3a |
G |
A |
12: 104,082,481 (GRCm39) |
A85T |
probably damaging |
Het |
| Slc12a7 |
C |
T |
13: 73,933,274 (GRCm39) |
R111* |
probably null |
Het |
| Slc5a5 |
A |
T |
8: 71,342,395 (GRCm39) |
|
probably null |
Het |
| Snx13 |
A |
T |
12: 35,188,084 (GRCm39) |
L787F |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,589,659 (GRCm39) |
M1535K |
probably damaging |
Het |
| Sphkap |
T |
G |
1: 83,253,602 (GRCm39) |
K1382N |
probably benign |
Het |
| Tagap1 |
A |
G |
17: 7,224,259 (GRCm39) |
S146P |
probably benign |
Het |
| Tagln3 |
A |
G |
16: 45,531,957 (GRCm39) |
Y192H |
probably damaging |
Het |
| Tbc1d15 |
A |
C |
10: 115,076,819 (GRCm39) |
S22A |
possibly damaging |
Het |
| Tbc1d31 |
A |
G |
15: 57,796,040 (GRCm39) |
E211G |
probably benign |
Het |
| Tmod3 |
A |
G |
9: 75,416,645 (GRCm39) |
V229A |
probably damaging |
Het |
| Ubr2 |
A |
G |
17: 47,274,071 (GRCm39) |
|
probably null |
Het |
| Ugt2b36 |
T |
C |
5: 87,240,100 (GRCm39) |
E95G |
probably benign |
Het |
| Unc45b |
G |
A |
11: 82,802,515 (GRCm39) |
A4T |
probably benign |
Het |
| Usp40 |
A |
G |
1: 87,877,936 (GRCm39) |
I1117T |
probably benign |
Het |
| Vcan |
T |
A |
13: 89,841,422 (GRCm39) |
D414V |
probably damaging |
Het |
| Xrn1 |
C |
A |
9: 95,921,885 (GRCm39) |
H1433N |
probably benign |
Het |
| Zfp353-ps |
T |
A |
8: 42,536,005 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp74 |
G |
A |
7: 29,634,443 (GRCm39) |
Q422* |
probably null |
Het |
| Zmym3 |
A |
T |
X: 100,450,993 (GRCm39) |
V1208D |
probably damaging |
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 |
|
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'- CACTTCATCTCCTGCAGGTG -3'
(R):5'- TTCCCTGAACTATCCCATGAGG -3'
Sequencing Primer
(F):5'- GCAGGTGCATCAGACAGG -3'
(R):5'- AACTATCCCATGAGGCGGGTC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation