Incidental Mutation 'R4624:Fer1l6'
| ID |
346448 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1 like family member 6 |
| Synonyms |
EG631797 |
| MMRRC Submission |
041889-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R4624 (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 58425554 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 144
(I144T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: I144T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: I144T
| 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 |
0.4954 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
93% (85/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5730409E04Rik |
A |
G |
4: 126,505,873 (GRCm39) |
T134A |
possibly damaging |
Het |
| Adamts18 |
C |
T |
8: 114,499,800 (GRCm39) |
W371* |
probably null |
Het |
| Adgb |
C |
A |
10: 10,278,748 (GRCm39) |
V267L |
probably benign |
Het |
| Akr1c13 |
G |
T |
13: 4,247,869 (GRCm39) |
V214F |
probably damaging |
Het |
| Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,128 (GRCm39) |
H863R |
probably damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,619,734 (GRCm39) |
R766G |
unknown |
Het |
| Apol7c |
A |
G |
15: 77,410,595 (GRCm39) |
F117S |
probably damaging |
Het |
| Bcr |
A |
T |
10: 74,989,752 (GRCm39) |
E716V |
probably damaging |
Het |
| Borcs6 |
T |
C |
11: 68,951,423 (GRCm39) |
L267P |
probably damaging |
Het |
| Ccdc184 |
A |
T |
15: 98,066,638 (GRCm39) |
N148Y |
probably benign |
Het |
| Ccdc50 |
A |
G |
16: 27,255,351 (GRCm39) |
K223R |
probably null |
Het |
| Cd2 |
T |
G |
3: 101,194,747 (GRCm39) |
K114Q |
probably benign |
Het |
| Cdh19 |
T |
C |
1: 110,859,981 (GRCm39) |
K167E |
probably benign |
Het |
| Cep131 |
T |
C |
11: 119,961,658 (GRCm39) |
E558G |
probably damaging |
Het |
| Cmya5 |
A |
T |
13: 93,200,059 (GRCm39) |
V3423E |
probably damaging |
Het |
| Cnot6l |
A |
G |
5: 96,225,070 (GRCm39) |
V541A |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,704,809 (GRCm39) |
C663* |
probably null |
Het |
| Dnaaf4 |
A |
G |
9: 72,871,453 (GRCm39) |
I238V |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,913 (GRCm39) |
I893T |
possibly damaging |
Het |
| Dop1a |
G |
A |
9: 86,403,578 (GRCm39) |
V129M |
probably damaging |
Het |
| Exoc6b |
A |
G |
6: 84,831,791 (GRCm39) |
|
probably benign |
Het |
| Ext2 |
A |
G |
2: 93,533,545 (GRCm39) |
V671A |
probably benign |
Het |
| Fcamr |
T |
G |
1: 130,730,999 (GRCm39) |
L28R |
probably damaging |
Het |
| Frem1 |
A |
G |
4: 82,907,343 (GRCm39) |
L839P |
probably damaging |
Het |
| Fscn2 |
A |
T |
11: 120,258,169 (GRCm39) |
I364F |
probably benign |
Het |
| Gm10291 |
T |
C |
3: 78,824,581 (GRCm39) |
|
noncoding transcript |
Het |
| Gm29125 |
T |
C |
1: 80,362,676 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,710,823 (GRCm39) |
M908V |
probably damaging |
Het |
| Helz2 |
T |
C |
2: 180,881,101 (GRCm39) |
E436G |
probably damaging |
Het |
| Hfe |
A |
T |
13: 23,890,061 (GRCm39) |
C149* |
probably null |
Het |
| Hs1bp3 |
T |
C |
12: 8,386,357 (GRCm39) |
V253A |
probably benign |
Het |
| Kat14 |
A |
G |
2: 144,246,140 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kcnh3 |
T |
A |
15: 99,124,253 (GRCm39) |
D47E |
probably damaging |
Het |
| Kcp |
A |
G |
6: 29,482,813 (GRCm39) |
F1419L |
possibly damaging |
Het |
| Kera |
A |
G |
10: 97,445,493 (GRCm39) |
N284S |
probably benign |
Het |
| Klhl24 |
A |
G |
16: 19,938,873 (GRCm39) |
D476G |
probably damaging |
Het |
| Krt79 |
T |
A |
15: 101,848,241 (GRCm39) |
T137S |
possibly damaging |
Het |
| Lilrb4a |
A |
G |
10: 51,367,584 (GRCm39) |
Y42C |
probably damaging |
Het |
| Lnx1 |
C |
T |
5: 74,821,121 (GRCm39) |
|
probably benign |
Het |
| Map3k14 |
A |
G |
11: 103,121,927 (GRCm39) |
Y497H |
probably damaging |
Het |
| Mmut |
G |
A |
17: 41,257,946 (GRCm39) |
E371K |
probably damaging |
Het |
| Nkx2-6 |
A |
G |
14: 69,412,375 (GRCm39) |
Q181R |
probably damaging |
Het |
| Notch1 |
T |
C |
2: 26,368,093 (GRCm39) |
K631R |
possibly damaging |
Het |
| Or5an10 |
C |
T |
19: 12,276,347 (GRCm39) |
V50I |
probably benign |
Het |
| Pcdh9 |
T |
A |
14: 94,123,845 (GRCm39) |
N775I |
probably damaging |
Het |
| Phkb |
T |
A |
8: 86,575,341 (GRCm39) |
|
probably benign |
Het |
| Pick1 |
T |
A |
15: 79,130,666 (GRCm39) |
I250N |
probably damaging |
Het |
| Plec |
T |
C |
15: 76,059,335 (GRCm39) |
E3556G |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,359,489 (GRCm39) |
Q1566* |
probably null |
Het |
| Ptgr2 |
T |
G |
12: 84,355,128 (GRCm39) |
F287L |
possibly damaging |
Het |
| Ptprv |
T |
C |
1: 135,051,869 (GRCm39) |
|
noncoding transcript |
Het |
| Rab5b |
G |
T |
10: 128,519,130 (GRCm39) |
H83Q |
probably benign |
Het |
| Ranbp6 |
A |
T |
19: 29,788,263 (GRCm39) |
Y696* |
probably null |
Het |
| Rapgef3 |
G |
T |
15: 97,656,810 (GRCm39) |
D318E |
probably damaging |
Het |
| Rmi1 |
A |
G |
13: 58,556,950 (GRCm39) |
R400G |
probably benign |
Het |
| Rsrc1 |
T |
C |
3: 67,257,311 (GRCm39) |
V241A |
probably damaging |
Het |
| Ryr2 |
A |
T |
13: 12,121,301 (GRCm39) |
I11N |
possibly damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,321 (GRCm39) |
L55P |
probably damaging |
Het |
| Sec13 |
A |
G |
6: 113,706,652 (GRCm39) |
S254P |
probably benign |
Het |
| Slc25a36 |
G |
A |
9: 96,961,178 (GRCm39) |
T147I |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,184,411 (GRCm39) |
E651G |
probably benign |
Het |
| Stox2 |
C |
A |
8: 47,646,851 (GRCm39) |
R203L |
probably damaging |
Het |
| Tbc1d30 |
A |
T |
10: 121,132,691 (GRCm39) |
D224E |
probably damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,936,881 (GRCm39) |
L1389P |
probably damaging |
Het |
| Tmprss11b |
T |
C |
5: 86,812,895 (GRCm39) |
S134G |
probably benign |
Het |
| Tmtc2 |
A |
T |
10: 105,139,511 (GRCm39) |
S672T |
probably benign |
Het |
| Tnnt1 |
G |
A |
7: 4,515,267 (GRCm39) |
|
probably benign |
Het |
| Tpst2 |
A |
G |
5: 112,456,162 (GRCm39) |
M234V |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,603,804 (GRCm39) |
D208G |
probably benign |
Het |
| Ube2c |
A |
G |
2: 164,614,093 (GRCm39) |
N143S |
possibly damaging |
Het |
| Unc45b |
T |
A |
11: 82,816,835 (GRCm39) |
M425K |
probably benign |
Het |
| Uvssa |
G |
A |
5: 33,547,300 (GRCm39) |
E289K |
possibly damaging |
Het |
| Vmn2r11 |
T |
A |
5: 109,200,101 (GRCm39) |
R451W |
probably damaging |
Het |
| Vmn2r45 |
T |
C |
7: 8,484,341 (GRCm39) |
Y488C |
probably damaging |
Het |
| Vmn2r55 |
T |
A |
7: 12,404,627 (GRCm39) |
I259F |
possibly damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,031,949 (GRCm39) |
R2277Q |
possibly damaging |
Het |
| Wdr64 |
T |
G |
1: 175,599,829 (GRCm39) |
M111R |
probably benign |
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 |
|
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 |
|
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'- GCAAGAATGTAGTTGCTGGC -3'
(R):5'- CTGTGTCCTAAAGTCCTCCATATTG -3'
Sequencing Primer
(F):5'- AAGAATGTAGTTGCTGGCATTTTATG -3'
(R):5'- GGGGATTTTTCAGCTTTAGCCC -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation