Incidental Mutation 'R9335:Mcf2l'
| ID |
707080 |
| 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 # |
R9335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
12923806-13070502 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 13050812 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Asparagine
at position 356
(H356N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106500
(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 |
possibly damaging
Transcript: ENSMUST00000095456
AA Change: H386N
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000093108
Gene: ENSMUSG00000031442
AA Change: H386N
| 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: H360N
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096528
Gene: ENSMUSG00000031442
AA Change: H360N
| 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: H334N
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106490
Gene: ENSMUSG00000031442
AA Change: H334N
| 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: H334N
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106491
Gene: ENSMUSG00000031442
AA Change: H334N
| 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: ENSMUST00000110871
AA Change: H354N
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106495
Gene: ENSMUSG00000031442
AA Change: H354N
| 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: H197N
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000106497
Gene: ENSMUSG00000031442
AA Change: H197N
| 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: H356N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106500
Gene: ENSMUSG00000031442
AA Change: H356N
| 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: H356N
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000106503
Gene: ENSMUSG00000031442
AA Change: H356N
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000118540
Gene: ENSMUSG00000031442
AA Change: H18N
| 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 |
possibly damaging
Transcript: ENSMUST00000145067
AA Change: H293N
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000133577
Gene: ENSMUSG00000031442
AA Change: H293N
| 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 |
possibly damaging
Transcript: ENSMUST00000173006
AA Change: H265N
PolyPhen 2
Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134147
Gene: ENSMUSG00000031442
AA Change: H265N
| 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: H352N
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133776
Gene: ENSMUSG00000031442
AA Change: H352N
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932438H23Rik |
G |
T |
16: 90,852,830 (GRCm39) |
T102K |
probably damaging |
Het |
| Afm |
A |
T |
5: 90,698,086 (GRCm39) |
D496V |
probably damaging |
Het |
| Aldh1l2 |
C |
T |
10: 83,342,510 (GRCm39) |
M546I |
probably damaging |
Het |
| Apol7c |
G |
T |
15: 77,409,889 (GRCm39) |
N352K |
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,228,236 (GRCm39) |
D1319E |
probably damaging |
Het |
| Atl2 |
A |
G |
17: 80,160,207 (GRCm39) |
I460T |
probably benign |
Het |
| Brms1l |
C |
A |
12: 55,888,431 (GRCm39) |
T73K |
possibly damaging |
Het |
| C1rl |
A |
T |
6: 124,482,341 (GRCm39) |
H154L |
probably benign |
Het |
| Cacna2d4 |
T |
A |
6: 119,279,014 (GRCm39) |
L709Q |
probably damaging |
Het |
| Cd101 |
A |
T |
3: 100,915,431 (GRCm39) |
V716D |
probably benign |
Het |
| Cd177 |
A |
G |
7: 24,443,711 (GRCm39) |
S796P |
probably benign |
Het |
| D430041D05Rik |
A |
T |
2: 104,078,674 (GRCm39) |
M530K |
probably damaging |
Het |
| Dcbld2 |
A |
T |
16: 58,272,141 (GRCm39) |
Q399L |
probably benign |
Het |
| Dennd4b |
T |
C |
3: 90,175,611 (GRCm39) |
Y138H |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,992,187 (GRCm39) |
N311S |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,625,489 (GRCm39) |
I107V |
probably benign |
Het |
| Dync2h1 |
A |
C |
9: 7,112,149 (GRCm39) |
V2480G |
possibly damaging |
Het |
| Ect2l |
T |
A |
10: 18,077,032 (GRCm39) |
T24S |
probably null |
Het |
| Egfr |
C |
A |
11: 16,820,991 (GRCm39) |
T302K |
probably damaging |
Het |
| Eid1 |
T |
G |
2: 125,515,578 (GRCm39) |
I156S |
possibly damaging |
Het |
| Elmod1 |
A |
T |
9: 53,843,116 (GRCm39) |
W21R |
probably benign |
Het |
| Enah |
G |
A |
1: 181,749,450 (GRCm39) |
P463L |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,966,529 (GRCm39) |
Y602C |
probably benign |
Het |
| Ermap |
T |
A |
4: 119,035,545 (GRCm39) |
Y481F |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,397,748 (GRCm39) |
T231N |
possibly damaging |
Het |
| Gdap1 |
A |
G |
1: 17,231,389 (GRCm39) |
T245A |
probably benign |
Het |
| Glmp |
T |
A |
3: 88,235,563 (GRCm39) |
V368D |
probably damaging |
Het |
| Gm10203 |
C |
T |
6: 149,031,815 (GRCm39) |
A40V |
unknown |
Het |
| Gm4553 |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC |
7: 141,719,157 (GRCm39) |
|
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Hao2 |
C |
A |
3: 98,791,010 (GRCm39) |
V55L |
possibly damaging |
Het |
| Hemgn |
A |
T |
4: 46,394,647 (GRCm39) |
S488T |
probably benign |
Het |
| Ighv12-3 |
C |
T |
12: 114,330,312 (GRCm39) |
G61E |
probably damaging |
Het |
| Itga2b |
T |
C |
11: 102,346,478 (GRCm39) |
E986G |
probably damaging |
Het |
| Laptm5 |
T |
G |
4: 130,656,839 (GRCm39) |
S167A |
|
Het |
| Lmtk3 |
A |
T |
7: 45,442,165 (GRCm39) |
Y377F |
probably damaging |
Het |
| Lrp2 |
A |
G |
2: 69,258,983 (GRCm39) |
I4569T |
probably benign |
Het |
| Magi2 |
A |
G |
5: 20,866,263 (GRCm39) |
N176D |
|
Het |
| Mettl4 |
T |
A |
17: 95,042,936 (GRCm39) |
Y300F |
probably damaging |
Het |
| Naaladl2 |
T |
G |
3: 24,467,532 (GRCm39) |
K307N |
possibly damaging |
Het |
| Or1a1b |
T |
A |
11: 74,097,832 (GRCm39) |
D70V |
probably damaging |
Het |
| Or2aj4 |
G |
A |
16: 19,385,513 (GRCm39) |
T40I |
probably benign |
Het |
| Or51ag1 |
C |
T |
7: 103,155,727 (GRCm39) |
R142H |
probably benign |
Het |
| Or6c8b |
C |
T |
10: 128,882,614 (GRCm39) |
G106E |
probably damaging |
Het |
| Phip |
T |
A |
9: 82,814,979 (GRCm39) |
M248L |
probably benign |
Het |
| Picalm |
A |
G |
7: 89,825,491 (GRCm39) |
T300A |
probably benign |
Het |
| Ppa1 |
T |
G |
10: 61,484,562 (GRCm39) |
V19G |
possibly damaging |
Het |
| Ppp4r3a |
T |
C |
12: 101,007,013 (GRCm39) |
Y793C |
probably damaging |
Het |
| Prlr |
A |
T |
15: 10,325,357 (GRCm39) |
I177F |
probably benign |
Het |
| Prodh |
C |
A |
16: 17,894,160 (GRCm39) |
G457V |
probably damaging |
Het |
| Prrt3 |
T |
C |
6: 113,475,058 (GRCm39) |
K55E |
probably benign |
Het |
| Prx |
G |
T |
7: 27,217,496 (GRCm39) |
V805L |
probably damaging |
Het |
| Ptk6 |
T |
G |
2: 180,844,146 (GRCm39) |
D51A |
probably damaging |
Het |
| Rec114 |
T |
A |
9: 58,565,041 (GRCm39) |
Q205L |
probably null |
Het |
| Rfwd3 |
T |
G |
8: 112,006,567 (GRCm39) |
K510Q |
possibly damaging |
Het |
| Sdhb |
C |
T |
4: 140,700,250 (GRCm39) |
R117C |
probably benign |
Het |
| Serinc2 |
T |
G |
4: 130,158,220 (GRCm39) |
T21P |
probably benign |
Het |
| Serpinb3a |
A |
C |
1: 106,974,886 (GRCm39) |
F216V |
probably damaging |
Het |
| Sertm1 |
T |
C |
3: 54,806,929 (GRCm39) |
D32G |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,035,963 (GRCm39) |
D816G |
probably benign |
Het |
| Sfxn4 |
T |
A |
19: 60,839,494 (GRCm39) |
N188I |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,575,553 (GRCm39) |
D711G |
probably damaging |
Het |
| Sp9 |
T |
C |
2: 73,104,621 (GRCm39) |
F392L |
probably damaging |
Het |
| Ssbp1 |
T |
C |
6: 40,454,955 (GRCm39) |
L138P |
probably damaging |
Het |
| Sv2a |
G |
A |
3: 96,092,588 (GRCm39) |
G96E |
probably damaging |
Het |
| Tbc1d9 |
G |
T |
8: 83,937,160 (GRCm39) |
G81C |
possibly damaging |
Het |
| Tmem67 |
G |
A |
4: 12,040,640 (GRCm39) |
Q968* |
probably null |
Het |
| Tnni2 |
T |
C |
7: 141,998,003 (GRCm39) |
S169P |
probably damaging |
Het |
| Tpk1 |
T |
C |
6: 43,446,084 (GRCm39) |
|
probably null |
Het |
| Unc13b |
T |
A |
4: 43,216,123 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Unc13b |
A |
T |
4: 43,255,551 (GRCm39) |
E1057D |
probably damaging |
Het |
| Usf3 |
G |
T |
16: 44,041,936 (GRCm39) |
G2139C |
probably damaging |
Het |
| Vmn1r36 |
A |
T |
6: 66,693,430 (GRCm39) |
Y148* |
probably null |
Het |
| Vmn2r42 |
A |
C |
7: 8,197,758 (GRCm39) |
M287R |
probably damaging |
Het |
| Vmn2r60 |
A |
T |
7: 41,844,332 (GRCm39) |
H565L |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,901,225 (GRCm39) |
V385I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,476 (GRCm39) |
M83K |
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 |
|
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'- AGCCACCTCAGTCACGATAG -3'
(R):5'- CACTGCCTGTGTTACCCTTAGG -3'
Sequencing Primer
(F):5'- GCAGAGAGATCCTGACTCCCTTTG -3'
(R):5'- TTAGGTGCCACAGGAGCGTATG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation