Incidental Mutation 'R4573:Fer1l6'
ID |
343460 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
041598-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4573 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
G to A
at 58498129 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
probably null
Transcript: ENSMUST00000161028
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106
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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000161028
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam15 |
T |
C |
3: 89,253,293 (GRCm39) |
E212G |
probably damaging |
Het |
Adam1b |
A |
C |
5: 121,638,856 (GRCm39) |
S730A |
probably benign |
Het |
Akr1b10 |
T |
C |
6: 34,369,064 (GRCm39) |
V153A |
probably damaging |
Het |
Ap1m2 |
T |
C |
9: 21,217,054 (GRCm39) |
Y94C |
probably damaging |
Het |
Arhgef33 |
T |
C |
17: 80,672,711 (GRCm39) |
S320P |
probably damaging |
Het |
Arsg |
T |
C |
11: 109,408,108 (GRCm39) |
S87P |
probably damaging |
Het |
Asic3 |
A |
G |
5: 24,622,190 (GRCm39) |
Y458C |
probably damaging |
Het |
Aspm |
G |
T |
1: 139,407,245 (GRCm39) |
W2044L |
probably damaging |
Het |
Atad2b |
T |
C |
12: 5,004,663 (GRCm39) |
|
probably null |
Het |
Atp1a2 |
T |
C |
1: 172,106,204 (GRCm39) |
I869M |
possibly damaging |
Het |
Bpifb2 |
C |
T |
2: 153,731,412 (GRCm39) |
L263F |
probably damaging |
Het |
C1s2 |
T |
C |
6: 124,605,202 (GRCm39) |
|
probably null |
Het |
Carf |
G |
T |
1: 60,187,271 (GRCm39) |
A590S |
probably benign |
Het |
Cbarp |
G |
T |
10: 79,967,245 (GRCm39) |
D658E |
probably damaging |
Het |
Cd1d2 |
A |
G |
3: 86,894,861 (GRCm39) |
I78V |
probably benign |
Het |
Cdc42bpb |
A |
T |
12: 111,289,575 (GRCm39) |
M418K |
probably benign |
Het |
Cdhr3 |
A |
T |
12: 33,118,152 (GRCm39) |
|
probably null |
Het |
Cep290 |
A |
G |
10: 100,354,712 (GRCm39) |
K932R |
probably benign |
Het |
Ces1d |
A |
C |
8: 93,908,162 (GRCm39) |
N310K |
probably benign |
Het |
Chka |
A |
G |
19: 3,935,960 (GRCm39) |
K240R |
probably damaging |
Het |
Cltb |
C |
T |
13: 54,746,574 (GRCm39) |
R64H |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,848,061 (GRCm39) |
E193G |
probably benign |
Het |
Dhrs9 |
C |
A |
2: 69,227,985 (GRCm39) |
H200N |
probably benign |
Het |
Dnah6 |
T |
A |
6: 73,063,164 (GRCm39) |
N2698I |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,919,380 (GRCm39) |
S1118P |
probably benign |
Het |
Dyrk1a |
A |
G |
16: 94,492,882 (GRCm39) |
Y705C |
possibly damaging |
Het |
Elmod1 |
T |
C |
9: 53,833,256 (GRCm39) |
N183S |
probably damaging |
Het |
Fsip2 |
A |
T |
2: 82,816,510 (GRCm39) |
Y4081F |
possibly damaging |
Het |
Gsr |
A |
G |
8: 34,183,881 (GRCm39) |
D381G |
probably benign |
Het |
Gucy1a1 |
A |
G |
3: 82,016,229 (GRCm39) |
L253S |
possibly damaging |
Het |
Herc3 |
C |
A |
6: 58,871,098 (GRCm39) |
T69K |
possibly damaging |
Het |
Hoxb13 |
A |
G |
11: 96,085,777 (GRCm39) |
Y170C |
probably damaging |
Het |
Hsd3b5 |
T |
C |
3: 98,526,964 (GRCm39) |
M161V |
probably benign |
Het |
Lrp6 |
G |
A |
6: 134,447,693 (GRCm39) |
R985* |
probably null |
Het |
Marchf5 |
T |
A |
19: 37,197,793 (GRCm39) |
I154K |
probably damaging |
Het |
Mcemp1 |
A |
G |
8: 3,715,835 (GRCm39) |
|
probably null |
Het |
Mrpl2 |
G |
T |
17: 46,959,967 (GRCm39) |
C212F |
possibly damaging |
Het |
Mterf1a |
G |
A |
5: 3,941,119 (GRCm39) |
R250W |
possibly damaging |
Het |
Mthfd1 |
A |
G |
12: 76,340,912 (GRCm39) |
|
probably null |
Het |
Mul1 |
T |
C |
4: 138,163,660 (GRCm39) |
F19L |
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,583,733 (GRCm39) |
A74E |
probably benign |
Het |
Myo5a |
A |
T |
9: 75,108,579 (GRCm39) |
|
probably null |
Het |
Ncor2 |
A |
T |
5: 125,132,889 (GRCm39) |
S33T |
probably damaging |
Het |
Niban1 |
T |
C |
1: 151,579,517 (GRCm39) |
V412A |
possibly damaging |
Het |
Ninj1 |
A |
G |
13: 49,348,463 (GRCm39) |
N191S |
probably damaging |
Het |
Nrap |
T |
C |
19: 56,330,770 (GRCm39) |
|
probably null |
Het |
Ofcc1 |
G |
A |
13: 40,168,864 (GRCm39) |
T841I |
probably damaging |
Het |
Or1j21 |
T |
A |
2: 36,683,491 (GRCm39) |
M81K |
probably damaging |
Het |
Or1n1b |
T |
C |
2: 36,780,202 (GRCm39) |
I219M |
probably damaging |
Het |
Osbpl5 |
C |
A |
7: 143,248,053 (GRCm39) |
V671L |
probably benign |
Het |
Paics |
T |
C |
5: 77,104,450 (GRCm39) |
L25S |
probably benign |
Het |
Pcmtd1 |
A |
G |
1: 7,190,591 (GRCm39) |
E20G |
probably damaging |
Het |
Pgbd5 |
G |
A |
8: 125,102,966 (GRCm39) |
Q228* |
probably null |
Het |
Pnpla7 |
T |
C |
2: 24,940,885 (GRCm39) |
V1079A |
probably damaging |
Het |
Pou2f1 |
G |
A |
1: 165,740,830 (GRCm39) |
T113I |
probably benign |
Het |
Ppp1r14c |
A |
G |
10: 3,413,416 (GRCm39) |
I150V |
possibly damaging |
Het |
Ppp1r2 |
A |
G |
16: 31,079,455 (GRCm39) |
Y115H |
possibly damaging |
Het |
Ptchd4 |
T |
C |
17: 42,813,668 (GRCm39) |
V523A |
probably benign |
Het |
Rabep1 |
G |
C |
11: 70,808,577 (GRCm39) |
S468T |
probably damaging |
Het |
Rgs6 |
T |
A |
12: 83,112,789 (GRCm39) |
W200R |
probably damaging |
Het |
Ryr3 |
C |
T |
2: 112,585,519 (GRCm39) |
|
probably null |
Het |
Scamp2 |
A |
T |
9: 57,484,477 (GRCm39) |
D20V |
probably damaging |
Het |
Sec24d |
G |
A |
3: 123,152,519 (GRCm39) |
V844M |
probably damaging |
Het |
Septin10 |
T |
A |
10: 59,028,151 (GRCm39) |
N57Y |
probably damaging |
Het |
Sis |
T |
C |
3: 72,835,570 (GRCm39) |
K931E |
possibly damaging |
Het |
Slamf7 |
T |
C |
1: 171,463,934 (GRCm39) |
T258A |
probably benign |
Het |
Slc15a1 |
A |
G |
14: 121,724,441 (GRCm39) |
S144P |
probably damaging |
Het |
Slc6a7 |
A |
T |
18: 61,135,253 (GRCm39) |
V425E |
probably benign |
Het |
Syt7 |
C |
T |
19: 10,416,576 (GRCm39) |
R253* |
probably null |
Het |
Tm4sf1 |
A |
T |
3: 57,202,206 (GRCm39) |
C2S |
possibly damaging |
Het |
Trio |
CCTTCTTCTTCT |
CCTTCTTCT |
15: 27,773,084 (GRCm39) |
|
probably benign |
Het |
Trpm3 |
C |
T |
19: 22,879,506 (GRCm39) |
H594Y |
probably damaging |
Het |
Tshz1 |
A |
T |
18: 84,033,207 (GRCm39) |
N400K |
probably damaging |
Het |
Vat1 |
A |
T |
11: 101,351,441 (GRCm39) |
M300K |
probably benign |
Het |
Vmn1r70 |
C |
A |
7: 10,367,556 (GRCm39) |
|
probably null |
Het |
Vmn2r5 |
C |
T |
3: 64,411,339 (GRCm39) |
D410N |
probably damaging |
Het |
Yap1 |
T |
C |
9: 7,934,682 (GRCm39) |
D428G |
probably damaging |
Het |
Zbed6 |
A |
G |
1: 133,587,127 (GRCm39) |
I70T |
probably benign |
Het |
Zfp157 |
A |
G |
5: 138,455,191 (GRCm39) |
Y463C |
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 |
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 |
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'- AGGAGCCATGTCTTCACAGTG -3'
(R):5'- TCTTGTAACATGGGACTGAACC -3'
Sequencing Primer
(F):5'- AGTGAGACTTCATTCTAGAGTCTCC -3'
(R):5'- CCAAGGAATCCCAAGTAGGTC -3'
|
Posted On |
2015-09-24 |