Incidental Mutation 'R0009:Fer1l6'
| ID |
40497 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1 like family member 6 |
| Synonyms |
EG631797 |
| MMRRC Submission |
038304-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0009 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58534636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 1828
(Y1828H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159177
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: Y1828H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: Y1828H
| 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 |
|
| Meta Mutation Damage Score |
0.1387 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| Validation Efficiency |
100% (68/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
T |
G |
9: 44,188,946 (GRCm39) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,487,151 (GRCm39) |
I886N |
possibly damaging |
Het |
| Bmf |
A |
T |
2: 118,380,103 (GRCm39) |
V14E |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,182,739 (GRCm39) |
N427D |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
| Dip2b |
T |
A |
15: 100,067,193 (GRCm39) |
L565Q |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,671,939 (GRCm39) |
C1004S |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,009,257 (GRCm39) |
I2135N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,596,972 (GRCm39) |
|
probably benign |
Het |
| Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 141,635,791 (GRCm39) |
|
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,740,388 (GRCm39) |
V544A |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,687,209 (GRCm39) |
V311A |
probably benign |
Het |
| Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
| Gstm3 |
T |
G |
3: 107,875,156 (GRCm39) |
Y62S |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,746,636 (GRCm39) |
P151S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
| Htr7 |
C |
A |
19: 36,018,940 (GRCm39) |
|
probably benign |
Het |
| Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,078,680 (GRCm39) |
C267R |
possibly damaging |
Het |
| Larp1 |
A |
G |
11: 57,946,299 (GRCm39) |
K879R |
possibly damaging |
Het |
| Lcn5 |
T |
A |
2: 25,551,417 (GRCm39) |
|
probably benign |
Het |
| Lep |
T |
A |
6: 29,068,971 (GRCm39) |
C7* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,878,566 (GRCm39) |
T1223A |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,502,334 (GRCm39) |
I796T |
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,950,898 (GRCm39) |
D312E |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Myo19 |
T |
A |
11: 84,778,995 (GRCm39) |
|
probably null |
Het |
| Naa15 |
T |
G |
3: 51,377,640 (GRCm39) |
H763Q |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,618,551 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,363,078 (GRCm39) |
R184H |
probably benign |
Het |
| Rab19 |
T |
G |
6: 39,366,621 (GRCm39) |
L179V |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,679,327 (GRCm39) |
V123E |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
| Srp72 |
T |
C |
5: 77,135,732 (GRCm39) |
S221P |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
| Tcea2 |
A |
G |
2: 181,327,610 (GRCm39) |
T112A |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,368 (GRCm39) |
D230E |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,679,986 (GRCm39) |
G320V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
| Unc5a |
T |
A |
13: 55,150,692 (GRCm39) |
C505S |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
| Zfp637 |
C |
A |
6: 117,822,629 (GRCm39) |
H252Q |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,479,903 (GRCm39) |
D693E |
probably damaging |
Het |
|
| Other mutations in Fer1l6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R1921:Fer1l6
|
UTSW |
15 |
58,497,080 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGATCTGGTCACAGGACAGATGGAG -3'
(R):5'- TCGCAGCACATGATCTTAGAGGGC -3'
Sequencing Primer
(F):5'- TACAGACTACTTAGTGAGAGGTCCC -3'
(R):5'- AAGATCTGTGTCCTACGAGC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation