Incidental Mutation 'R9022:Fer1l6'
ID |
686313 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
068852-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R9022 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58455329 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 763
(L763P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: L763P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: L763P
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
100% (84/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
G |
T |
3: 32,769,649 (GRCm39) |
A155S |
probably benign |
Het |
Adar |
A |
G |
3: 89,643,045 (GRCm39) |
T309A |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,303,312 (GRCm39) |
W6125R |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,352 (GRCm39) |
L802P |
probably benign |
Het |
Ahcy |
A |
G |
2: 154,910,779 (GRCm39) |
L63P |
probably damaging |
Het |
Ang5 |
G |
A |
14: 44,200,352 (GRCm39) |
D139N |
probably damaging |
Het |
Ankrd31 |
A |
G |
13: 96,962,655 (GRCm39) |
D482G |
probably benign |
Het |
Arhgef7 |
A |
G |
8: 11,850,469 (GRCm39) |
N257D |
probably benign |
Het |
Art3 |
C |
A |
5: 92,540,393 (GRCm39) |
S45R |
probably benign |
Het |
Atxn1 |
T |
C |
13: 45,720,891 (GRCm39) |
R335G |
probably damaging |
Het |
Bag6 |
T |
A |
17: 35,363,641 (GRCm39) |
L775H |
probably damaging |
Het |
BC004004 |
T |
G |
17: 29,501,130 (GRCm39) |
H26Q |
possibly damaging |
Het |
Camsap3 |
T |
C |
8: 3,656,575 (GRCm39) |
L986S |
probably benign |
Het |
Cbx5 |
T |
C |
15: 103,121,586 (GRCm39) |
E17G |
probably damaging |
Het |
Cc2d1b |
T |
C |
4: 108,484,617 (GRCm39) |
|
probably null |
Het |
Ccdc59 |
T |
C |
10: 105,683,007 (GRCm39) |
Y231H |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,789,986 (GRCm39) |
|
probably null |
Het |
Csnk1g1 |
T |
C |
9: 65,917,854 (GRCm39) |
|
probably null |
Het |
Cybrd1 |
A |
G |
2: 70,967,904 (GRCm39) |
I158M |
possibly damaging |
Het |
Disp2 |
T |
A |
2: 118,621,179 (GRCm39) |
I637N |
probably benign |
Het |
Dll4 |
TC |
T |
2: 119,163,054 (GRCm39) |
|
probably null |
Het |
Dnah7a |
T |
C |
1: 53,512,116 (GRCm39) |
|
probably null |
Het |
Duox2 |
C |
A |
2: 122,110,919 (GRCm39) |
*1518L |
probably null |
Het |
Dym |
A |
G |
18: 75,258,507 (GRCm39) |
I422V |
probably benign |
Het |
Entpd8 |
A |
C |
2: 24,975,144 (GRCm39) |
I492L |
probably benign |
Het |
Fabp12 |
A |
G |
3: 10,317,333 (GRCm39) |
S13P |
probably damaging |
Het |
Fam124b |
A |
G |
1: 80,190,705 (GRCm39) |
I226T |
probably damaging |
Het |
Git2 |
A |
G |
5: 114,907,676 (GRCm39) |
|
probably null |
Het |
Gltpd2 |
A |
T |
11: 70,410,153 (GRCm39) |
Y37F |
probably benign |
Het |
Gm44511 |
T |
G |
6: 128,797,271 (GRCm39) |
Q72H |
possibly damaging |
Het |
Grid2ip |
A |
T |
5: 143,366,204 (GRCm39) |
T565S |
probably benign |
Het |
Grk6 |
T |
C |
13: 55,606,877 (GRCm39) |
S532P |
possibly damaging |
Het |
Haspin |
A |
T |
11: 73,026,831 (GRCm39) |
F753I |
probably damaging |
Het |
Herpud1 |
T |
A |
8: 95,116,197 (GRCm39) |
S92T |
possibly damaging |
Het |
Heyl |
C |
T |
4: 123,139,768 (GRCm39) |
A109V |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,955,304 (GRCm39) |
S1207P |
probably benign |
Het |
Hk1 |
A |
G |
10: 62,105,768 (GRCm39) |
S893P |
probably damaging |
Het |
Itih1 |
C |
A |
14: 30,652,327 (GRCm39) |
V789L |
probably benign |
Het |
Kif12 |
T |
C |
4: 63,090,121 (GRCm39) |
D10G |
possibly damaging |
Het |
Kif16b |
C |
T |
2: 142,554,537 (GRCm39) |
E754K |
possibly damaging |
Het |
Kif20a |
A |
G |
18: 34,760,898 (GRCm39) |
Q191R |
probably benign |
Het |
Lap3 |
A |
G |
5: 45,652,548 (GRCm39) |
D48G |
probably benign |
Het |
Matn3 |
T |
A |
12: 9,002,355 (GRCm39) |
V189E |
probably damaging |
Het |
Mbp |
G |
A |
18: 82,597,067 (GRCm39) |
E143K |
possibly damaging |
Het |
Mrgprd |
A |
G |
7: 144,875,555 (GRCm39) |
H142R |
probably benign |
Het |
Nbea |
A |
T |
3: 55,551,110 (GRCm39) |
C2685S |
possibly damaging |
Het |
Nhsl1 |
A |
C |
10: 18,403,409 (GRCm39) |
I1381L |
possibly damaging |
Het |
Npc1 |
A |
G |
18: 12,346,422 (GRCm39) |
M258T |
probably benign |
Het |
Or2w3 |
T |
C |
11: 58,556,550 (GRCm39) |
L55P |
probably damaging |
Het |
Or7e178 |
T |
A |
9: 20,225,268 (GRCm39) |
N316I |
probably damaging |
Het |
Osbpl10 |
C |
T |
9: 114,807,939 (GRCm39) |
A65V |
unknown |
Het |
Pdia4 |
C |
G |
6: 47,785,149 (GRCm39) |
A73P |
probably benign |
Het |
Plxnb2 |
T |
C |
15: 89,048,471 (GRCm39) |
Y646C |
possibly damaging |
Het |
Pmm1 |
C |
T |
15: 81,839,896 (GRCm39) |
R143H |
probably damaging |
Het |
Pold2 |
T |
C |
11: 5,824,121 (GRCm39) |
D228G |
probably benign |
Het |
Popdc2 |
T |
G |
16: 38,194,508 (GRCm39) |
C310G |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,268,424 (GRCm39) |
Y791C |
probably benign |
Het |
Psg19 |
C |
T |
7: 18,530,762 (GRCm39) |
V131I |
probably benign |
Het |
Psg19 |
T |
A |
7: 18,531,044 (GRCm39) |
T37S |
probably benign |
Het |
Psme1 |
A |
G |
14: 55,817,271 (GRCm39) |
E39G |
probably damaging |
Het |
Rabep2 |
A |
G |
7: 126,043,719 (GRCm39) |
E472G |
probably damaging |
Het |
Rap1gap |
T |
C |
4: 137,445,309 (GRCm39) |
F297S |
probably damaging |
Het |
Reln |
A |
G |
5: 22,181,613 (GRCm39) |
S1757P |
possibly damaging |
Het |
Rybp |
G |
T |
6: 100,210,074 (GRCm39) |
D95E |
possibly damaging |
Het |
Slc12a8 |
T |
A |
16: 33,466,934 (GRCm39) |
D480E |
probably benign |
Het |
Slc25a1 |
A |
G |
16: 17,745,294 (GRCm39) |
V80A |
probably benign |
Het |
Slc25a24 |
A |
T |
3: 109,070,757 (GRCm39) |
D372V |
probably benign |
Het |
Slc49a4 |
T |
C |
16: 35,570,912 (GRCm39) |
T131A |
probably benign |
Het |
Stab1 |
T |
C |
14: 30,882,226 (GRCm39) |
T490A |
probably benign |
Het |
Stat5b |
A |
T |
11: 100,681,634 (GRCm39) |
I540N |
probably benign |
Het |
Tasor2 |
A |
G |
13: 3,626,659 (GRCm39) |
V1097A |
probably benign |
Het |
Thy1 |
T |
A |
9: 43,957,947 (GRCm39) |
L25Q |
probably damaging |
Het |
Trim30a |
A |
G |
7: 104,084,956 (GRCm39) |
S85P |
probably benign |
Het |
Use1 |
G |
A |
8: 71,819,942 (GRCm39) |
V36I |
probably benign |
Het |
Vmn1r228 |
T |
A |
17: 20,996,778 (GRCm39) |
I247F |
probably damaging |
Het |
Vmn2r13 |
T |
A |
5: 109,304,242 (GRCm39) |
T730S |
possibly damaging |
Het |
Vmn2r9 |
T |
C |
5: 108,992,923 (GRCm39) |
D529G |
possibly damaging |
Het |
Washc5 |
A |
G |
15: 59,217,233 (GRCm39) |
I778T |
possibly damaging |
Het |
Washc5 |
A |
T |
15: 59,233,069 (GRCm39) |
M294K |
probably damaging |
Het |
Wnt8a |
A |
T |
18: 34,680,298 (GRCm39) |
D221V |
probably damaging |
Het |
Zfp616 |
A |
G |
11: 73,976,539 (GRCm39) |
K936R |
probably damaging |
Het |
Zfp618 |
G |
A |
4: 63,012,687 (GRCm39) |
C133Y |
probably damaging |
Het |
Zfp82 |
A |
G |
7: 29,761,714 (GRCm39) |
S56P |
probably damaging |
Het |
Zkscan16 |
T |
A |
4: 58,957,021 (GRCm39) |
D434E |
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 |
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 |
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'- TCTGTGGGGATAGGTAAGCC -3'
(R):5'- TGCTAGAAGAAACCACTCAATTGG -3'
Sequencing Primer
(F):5'- TAGGTAAGCCCTAGAGGTACATCTAC -3'
(R):5'- GAATTTAGATCAAGAAGCCTACGGTC -3'
|
Posted On |
2021-10-11 |