Incidental Mutation 'R1921:Fer1l6'
ID |
213093 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
039939-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R1921 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58497080 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 1217
(S1217T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: S1217T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: S1217T
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
20 |
N/A |
INTRINSIC |
C2
|
83 |
179 |
4.09e-12 |
SMART |
FerI
|
165 |
235 |
2.06e-36 |
SMART |
C2
|
243 |
354 |
5.19e-14 |
SMART |
low complexity region
|
412 |
449 |
N/A |
INTRINSIC |
FerB
|
714 |
787 |
2.53e-45 |
SMART |
C2
|
829 |
936 |
8.84e-8 |
SMART |
C2
|
1000 |
1099 |
3.05e0 |
SMART |
low complexity region
|
1189 |
1203 |
N/A |
INTRINSIC |
low complexity region
|
1256 |
1270 |
N/A |
INTRINSIC |
C2
|
1361 |
1460 |
5.78e-12 |
SMART |
low complexity region
|
1518 |
1529 |
N/A |
INTRINSIC |
C2
|
1601 |
1731 |
1.01e-2 |
SMART |
Pfam:Ferlin_C
|
1765 |
1857 |
2.3e-40 |
PFAM |
|
Coding Region Coverage |
- 1x: 97.3%
- 3x: 96.7%
- 10x: 94.9%
- 20x: 91.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
C |
A |
6: 121,631,571 (GRCm39) |
L623M |
probably benign |
Het |
Abhd2 |
T |
C |
7: 78,998,104 (GRCm39) |
I212T |
possibly damaging |
Het |
Adam7 |
A |
C |
14: 68,750,074 (GRCm39) |
S449A |
possibly damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Aox3 |
T |
C |
1: 58,219,810 (GRCm39) |
Y1137H |
probably damaging |
Het |
Atp11b |
T |
C |
3: 35,888,474 (GRCm39) |
Y715H |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,836,971 (GRCm39) |
Y1145C |
probably damaging |
Het |
Btbd7 |
A |
G |
12: 102,760,055 (GRCm39) |
I631T |
probably benign |
Het |
Cadps |
T |
C |
14: 12,465,859 (GRCm38) |
K1017R |
possibly damaging |
Het |
Cfap45 |
A |
G |
1: 172,372,679 (GRCm39) |
E458G |
probably damaging |
Het |
Cptp |
C |
T |
4: 155,950,995 (GRCm39) |
R157H |
probably damaging |
Het |
Dcbld1 |
A |
C |
10: 52,195,747 (GRCm39) |
E318D |
possibly damaging |
Het |
Ddr2 |
G |
T |
1: 169,831,814 (GRCm39) |
P197Q |
probably damaging |
Het |
Dlg5 |
T |
C |
14: 24,226,639 (GRCm39) |
Y421C |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,893,624 (GRCm39) |
K980E |
probably benign |
Het |
Drc7 |
T |
C |
8: 95,782,644 (GRCm39) |
V3A |
unknown |
Het |
Dst |
T |
C |
1: 34,200,110 (GRCm39) |
V96A |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,018,752 (GRCm39) |
D548G |
possibly damaging |
Het |
Efcab10 |
A |
T |
12: 33,448,434 (GRCm39) |
Y89F |
probably benign |
Het |
Eif1ad |
CGAGGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGGAGG |
19: 5,420,086 (GRCm39) |
|
probably benign |
Het |
Entpd6 |
A |
G |
2: 150,600,732 (GRCm39) |
T147A |
probably damaging |
Het |
Fbxl5 |
T |
A |
5: 43,922,832 (GRCm39) |
E189D |
probably benign |
Het |
Frem2 |
A |
T |
3: 53,560,916 (GRCm39) |
V1197D |
possibly damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,127 (GRCm39) |
L2482* |
probably null |
Het |
Fsip2 |
A |
T |
2: 82,817,164 (GRCm39) |
D4299V |
probably benign |
Het |
Gipc3 |
T |
A |
10: 81,174,049 (GRCm39) |
I242F |
probably damaging |
Het |
Hoxb1 |
T |
A |
11: 96,256,938 (GRCm39) |
Y96N |
probably damaging |
Het |
Ibsp |
A |
G |
5: 104,458,078 (GRCm39) |
E205G |
probably damaging |
Het |
Ibtk |
A |
G |
9: 85,585,135 (GRCm39) |
S1170P |
probably benign |
Het |
Igfn1 |
A |
G |
1: 135,893,801 (GRCm39) |
|
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,639,877 (GRCm39) |
S954P |
probably benign |
Het |
Kalrn |
A |
T |
16: 34,212,463 (GRCm39) |
D28E |
probably benign |
Het |
Lrmda |
T |
C |
14: 22,627,938 (GRCm39) |
F52L |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,353,631 (GRCm39) |
D543G |
probably damaging |
Het |
Lrrtm3 |
T |
C |
10: 63,924,157 (GRCm39) |
T337A |
probably benign |
Het |
Marf1 |
C |
T |
16: 13,946,465 (GRCm39) |
D1219N |
possibly damaging |
Het |
Mkln1 |
A |
G |
6: 31,405,113 (GRCm39) |
K118R |
probably benign |
Het |
Nedd4l |
T |
C |
18: 65,300,646 (GRCm39) |
|
probably null |
Het |
Neu2 |
A |
G |
1: 87,525,023 (GRCm39) |
E336G |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,538,543 (GRCm39) |
F448S |
probably damaging |
Het |
Nlrx1 |
C |
A |
9: 44,165,431 (GRCm39) |
E822* |
probably null |
Het |
Nr5a1 |
T |
C |
2: 38,584,108 (GRCm39) |
Y437C |
probably damaging |
Het |
Or4c119 |
A |
G |
2: 88,986,925 (GRCm39) |
V198A |
probably benign |
Het |
Or7a37 |
T |
A |
10: 78,805,975 (GRCm39) |
L164* |
probably null |
Het |
Or8b38 |
T |
C |
9: 37,972,981 (GRCm39) |
Y122H |
probably damaging |
Het |
Phtf1 |
C |
T |
3: 103,876,438 (GRCm39) |
Q13* |
probably null |
Het |
Pnldc1 |
A |
G |
17: 13,107,815 (GRCm39) |
L525P |
possibly damaging |
Het |
Ppl |
T |
A |
16: 4,923,988 (GRCm39) |
D162V |
possibly damaging |
Het |
Prkdc |
T |
A |
16: 15,532,079 (GRCm39) |
S1448T |
possibly damaging |
Het |
Ptgdr |
A |
G |
14: 45,090,738 (GRCm39) |
I340T |
probably benign |
Het |
Recql |
T |
C |
6: 142,311,315 (GRCm39) |
I458M |
probably benign |
Het |
Rrbp1 |
A |
T |
2: 143,830,211 (GRCm39) |
V652E |
probably benign |
Het |
Rtp1 |
T |
A |
16: 23,250,160 (GRCm39) |
I175N |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,754,369 (GRCm39) |
M3523T |
probably damaging |
Het |
S100a16 |
T |
C |
3: 90,449,703 (GRCm39) |
L62P |
probably damaging |
Het |
Samd11 |
T |
C |
4: 156,333,166 (GRCm39) |
E364G |
probably damaging |
Het |
Satb1 |
C |
A |
17: 52,049,143 (GRCm39) |
G603* |
probably null |
Het |
Shroom3 |
T |
A |
5: 93,110,224 (GRCm39) |
|
probably null |
Het |
Slc25a15 |
A |
G |
8: 22,885,777 (GRCm39) |
S3P |
probably benign |
Het |
Socs2 |
A |
T |
10: 95,248,900 (GRCm39) |
L71* |
probably null |
Het |
Sptbn1 |
T |
C |
11: 30,054,469 (GRCm39) |
E2208G |
probably damaging |
Het |
St14 |
A |
G |
9: 31,001,166 (GRCm39) |
V855A |
possibly damaging |
Het |
Susd1 |
T |
A |
4: 59,412,191 (GRCm39) |
T121S |
probably benign |
Het |
Svs3b |
A |
T |
2: 164,097,848 (GRCm39) |
S158T |
probably benign |
Het |
Synpo |
C |
T |
18: 60,736,661 (GRCm39) |
M428I |
probably benign |
Het |
Syt10 |
C |
T |
15: 89,674,979 (GRCm39) |
D456N |
probably damaging |
Het |
Taar4 |
A |
G |
10: 23,837,239 (GRCm39) |
D283G |
probably damaging |
Het |
Tango6 |
T |
A |
8: 107,415,426 (GRCm39) |
D82E |
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,971,927 (GRCm39) |
T127A |
possibly damaging |
Het |
Tle3 |
G |
A |
9: 61,318,622 (GRCm39) |
|
probably null |
Het |
Tmem45a |
A |
G |
16: 56,642,665 (GRCm39) |
F169L |
probably benign |
Het |
Trp53rkb |
T |
A |
2: 166,637,743 (GRCm39) |
V233E |
probably damaging |
Het |
Ttc7b |
C |
T |
12: 100,381,389 (GRCm39) |
|
probably null |
Het |
Tubgcp3 |
A |
T |
8: 12,671,932 (GRCm39) |
L770* |
probably null |
Het |
Tut1 |
G |
A |
19: 8,943,466 (GRCm39) |
G851D |
probably benign |
Het |
Ubr1 |
G |
A |
2: 120,761,449 (GRCm39) |
T576I |
probably benign |
Het |
Vmn1r125 |
T |
A |
7: 21,006,530 (GRCm39) |
Y143N |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,831,839 (GRCm39) |
I317F |
probably benign |
Het |
Vmn2r95 |
T |
A |
17: 18,644,575 (GRCm39) |
N70K |
probably benign |
Het |
Vps35l |
A |
G |
7: 118,432,971 (GRCm39) |
N568S |
probably damaging |
Het |
Wdr59 |
A |
T |
8: 112,213,582 (GRCm39) |
L311* |
probably null |
Het |
Wnt2 |
A |
G |
6: 18,030,252 (GRCm39) |
L12P |
unknown |
Het |
Xrn1 |
T |
C |
9: 95,881,550 (GRCm39) |
I700T |
probably benign |
Het |
Ypel1 |
A |
G |
16: 16,900,443 (GRCm39) |
H98R |
probably benign |
Het |
Zfp219 |
T |
C |
14: 52,245,691 (GRCm39) |
T434A |
probably benign |
Het |
Zik1 |
A |
C |
7: 10,223,943 (GRCm39) |
C385G |
probably damaging |
Het |
|
Other mutations in Fer1l6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0009:Fer1l6
|
UTSW |
15 |
58,534,636 (GRCm39) |
missense |
probably damaging |
1.00 |
R0141:Fer1l6
|
UTSW |
15 |
58,430,251 (GRCm39) |
missense |
probably damaging |
1.00 |
R0178:Fer1l6
|
UTSW |
15 |
58,509,763 (GRCm39) |
splice site |
probably null |
|
R0304:Fer1l6
|
UTSW |
15 |
58,462,411 (GRCm39) |
missense |
probably benign |
0.08 |
R0379:Fer1l6
|
UTSW |
15 |
58,420,187 (GRCm39) |
missense |
probably benign |
0.05 |
R0457:Fer1l6
|
UTSW |
15 |
58,509,943 (GRCm39) |
critical splice donor site |
probably null |
|
R0546:Fer1l6
|
UTSW |
15 |
58,430,257 (GRCm39) |
splice site |
probably null |
|
R0602:Fer1l6
|
UTSW |
15 |
58,449,794 (GRCm39) |
missense |
probably damaging |
0.98 |
R0619:Fer1l6
|
UTSW |
15 |
58,534,784 (GRCm39) |
splice site |
probably null |
|
R0669:Fer1l6
|
UTSW |
15 |
58,425,573 (GRCm39) |
splice site |
probably null |
|
R0854:Fer1l6
|
UTSW |
15 |
58,431,037 (GRCm39) |
missense |
probably benign |
0.00 |
R0948:Fer1l6
|
UTSW |
15 |
58,435,924 (GRCm39) |
missense |
probably benign |
0.00 |
R1180:Fer1l6
|
UTSW |
15 |
58,474,160 (GRCm39) |
splice site |
probably benign |
|
R1483:Fer1l6
|
UTSW |
15 |
58,509,819 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1627:Fer1l6
|
UTSW |
15 |
58,513,728 (GRCm39) |
missense |
probably benign |
0.41 |
R1635:Fer1l6
|
UTSW |
15 |
58,518,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R1834:Fer1l6
|
UTSW |
15 |
58,429,718 (GRCm39) |
missense |
possibly damaging |
0.58 |
R2000:Fer1l6
|
UTSW |
15 |
58,474,160 (GRCm39) |
splice site |
probably benign |
|
R2041:Fer1l6
|
UTSW |
15 |
58,430,155 (GRCm39) |
missense |
probably damaging |
1.00 |
R2144:Fer1l6
|
UTSW |
15 |
58,499,383 (GRCm39) |
missense |
probably benign |
|
R2145:Fer1l6
|
UTSW |
15 |
58,499,383 (GRCm39) |
missense |
probably benign |
|
R2981:Fer1l6
|
UTSW |
15 |
58,435,926 (GRCm39) |
missense |
probably damaging |
0.99 |
R4164:Fer1l6
|
UTSW |
15 |
58,431,087 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4192:Fer1l6
|
UTSW |
15 |
58,518,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R4273:Fer1l6
|
UTSW |
15 |
58,499,371 (GRCm39) |
missense |
probably benign |
0.41 |
R4573:Fer1l6
|
UTSW |
15 |
58,498,129 (GRCm39) |
critical splice donor site |
probably null |
|
R4581:Fer1l6
|
UTSW |
15 |
58,512,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R4624:Fer1l6
|
UTSW |
15 |
58,425,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R4755:Fer1l6
|
UTSW |
15 |
58,512,060 (GRCm39) |
missense |
probably benign |
0.09 |
R4774:Fer1l6
|
UTSW |
15 |
58,449,798 (GRCm39) |
missense |
probably damaging |
0.99 |
R4894:Fer1l6
|
UTSW |
15 |
58,490,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R4896:Fer1l6
|
UTSW |
15 |
58,509,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R4921:Fer1l6
|
UTSW |
15 |
58,472,160 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4962:Fer1l6
|
UTSW |
15 |
58,443,250 (GRCm39) |
missense |
probably benign |
0.03 |
R5029:Fer1l6
|
UTSW |
15 |
58,515,769 (GRCm39) |
missense |
probably benign |
0.00 |
R5134:Fer1l6
|
UTSW |
15 |
58,512,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R5175:Fer1l6
|
UTSW |
15 |
58,422,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R5227:Fer1l6
|
UTSW |
15 |
58,453,752 (GRCm39) |
nonsense |
probably null |
|
R5561:Fer1l6
|
UTSW |
15 |
58,532,674 (GRCm39) |
missense |
probably damaging |
0.97 |
R5621:Fer1l6
|
UTSW |
15 |
58,430,175 (GRCm39) |
missense |
probably damaging |
1.00 |
R5670:Fer1l6
|
UTSW |
15 |
58,494,331 (GRCm39) |
missense |
probably benign |
0.00 |
R5745:Fer1l6
|
UTSW |
15 |
58,443,238 (GRCm39) |
missense |
probably benign |
0.01 |
R5807:Fer1l6
|
UTSW |
15 |
58,462,399 (GRCm39) |
nonsense |
probably null |
|
R5823:Fer1l6
|
UTSW |
15 |
58,462,352 (GRCm39) |
nonsense |
probably null |
|
R5892:Fer1l6
|
UTSW |
15 |
58,435,917 (GRCm39) |
missense |
probably benign |
|
R6006:Fer1l6
|
UTSW |
15 |
58,518,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R6137:Fer1l6
|
UTSW |
15 |
58,431,055 (GRCm39) |
missense |
probably damaging |
0.97 |
R6195:Fer1l6
|
UTSW |
15 |
58,509,806 (GRCm39) |
missense |
probably damaging |
1.00 |
R6234:Fer1l6
|
UTSW |
15 |
58,432,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R6237:Fer1l6
|
UTSW |
15 |
58,509,855 (GRCm39) |
missense |
probably damaging |
1.00 |
R6237:Fer1l6
|
UTSW |
15 |
58,497,026 (GRCm39) |
nonsense |
probably null |
|
R6271:Fer1l6
|
UTSW |
15 |
58,513,767 (GRCm39) |
missense |
probably benign |
0.01 |
R6336:Fer1l6
|
UTSW |
15 |
58,431,081 (GRCm39) |
nonsense |
probably null |
|
R6784:Fer1l6
|
UTSW |
15 |
58,443,275 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6852:Fer1l6
|
UTSW |
15 |
58,466,727 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Fer1l6
|
UTSW |
15 |
58,501,227 (GRCm39) |
missense |
probably damaging |
1.00 |
R7088:Fer1l6
|
UTSW |
15 |
58,435,899 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7181:Fer1l6
|
UTSW |
15 |
58,447,146 (GRCm39) |
missense |
probably benign |
0.00 |
R7226:Fer1l6
|
UTSW |
15 |
58,462,384 (GRCm39) |
missense |
probably benign |
0.00 |
R7266:Fer1l6
|
UTSW |
15 |
58,499,446 (GRCm39) |
missense |
probably benign |
|
R7463:Fer1l6
|
UTSW |
15 |
58,445,450 (GRCm39) |
nonsense |
probably null |
|
R7464:Fer1l6
|
UTSW |
15 |
58,445,096 (GRCm39) |
splice site |
probably null |
|
R7469:Fer1l6
|
UTSW |
15 |
58,462,419 (GRCm39) |
splice site |
probably null |
|
R7483:Fer1l6
|
UTSW |
15 |
58,513,794 (GRCm39) |
missense |
possibly damaging |
0.83 |
R7491:Fer1l6
|
UTSW |
15 |
58,472,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R7534:Fer1l6
|
UTSW |
15 |
58,509,875 (GRCm39) |
missense |
probably damaging |
1.00 |
R7562:Fer1l6
|
UTSW |
15 |
58,432,331 (GRCm39) |
missense |
probably benign |
0.00 |
R7580:Fer1l6
|
UTSW |
15 |
58,430,245 (GRCm39) |
missense |
probably benign |
0.41 |
R7599:Fer1l6
|
UTSW |
15 |
58,499,438 (GRCm39) |
missense |
probably benign |
|
R7607:Fer1l6
|
UTSW |
15 |
58,534,581 (GRCm39) |
nonsense |
probably null |
|
R7677:Fer1l6
|
UTSW |
15 |
58,474,139 (GRCm39) |
missense |
probably benign |
0.00 |
R8202:Fer1l6
|
UTSW |
15 |
58,502,486 (GRCm39) |
missense |
probably damaging |
1.00 |
R8261:Fer1l6
|
UTSW |
15 |
58,432,345 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8847:Fer1l6
|
UTSW |
15 |
58,414,012 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9022:Fer1l6
|
UTSW |
15 |
58,455,329 (GRCm39) |
missense |
probably damaging |
0.99 |
R9030:Fer1l6
|
UTSW |
15 |
58,502,594 (GRCm39) |
missense |
probably damaging |
1.00 |
R9160:Fer1l6
|
UTSW |
15 |
58,515,715 (GRCm39) |
missense |
possibly damaging |
0.94 |
R9180:Fer1l6
|
UTSW |
15 |
58,494,230 (GRCm39) |
missense |
probably benign |
0.19 |
R9289:Fer1l6
|
UTSW |
15 |
58,490,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R9559:Fer1l6
|
UTSW |
15 |
58,429,759 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9562:Fer1l6
|
UTSW |
15 |
58,490,370 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9682:Fer1l6
|
UTSW |
15 |
58,422,113 (GRCm39) |
missense |
probably benign |
0.03 |
R9775:Fer1l6
|
UTSW |
15 |
58,497,098 (GRCm39) |
missense |
probably benign |
|
X0021:Fer1l6
|
UTSW |
15 |
58,441,051 (GRCm39) |
nonsense |
probably null |
|
X0027:Fer1l6
|
UTSW |
15 |
58,501,189 (GRCm39) |
missense |
probably damaging |
1.00 |
X0063:Fer1l6
|
UTSW |
15 |
58,490,423 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGGAGCAAGCCTCATTCAAC -3'
(R):5'- AATGCAAAATTCTGCTGAAGCCC -3'
Sequencing Primer
(F):5'- TTCAACCAAAACAGGCTGCCTTTC -3'
(R):5'- AATTCTGCTGAAGCCCTGAGG -3'
|
Posted On |
2014-07-14 |