Incidental Mutation 'R7088:Fer1l6'
ID |
550045 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
045182-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R7088 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 58435899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 431
(K431E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161028
AA Change: K431E
PolyPhen 2
Score 0.689 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: K431E
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020L24Rik |
G |
T |
11: 83,331,232 (GRCm39) |
E48* |
probably null |
Het |
Acaca |
T |
C |
11: 84,169,783 (GRCm39) |
|
probably null |
Het |
Albfm1 |
T |
A |
5: 90,720,609 (GRCm39) |
L260* |
probably null |
Het |
Alkbh3 |
A |
G |
2: 93,835,097 (GRCm39) |
S83P |
possibly damaging |
Het |
Ammecr1l |
T |
C |
18: 31,904,872 (GRCm39) |
S38P |
probably benign |
Het |
Armc10 |
T |
C |
5: 21,858,390 (GRCm39) |
V145A |
probably damaging |
Het |
BC048671 |
A |
G |
6: 90,280,222 (GRCm39) |
K46R |
probably null |
Het |
C2cd3 |
A |
G |
7: 100,065,388 (GRCm39) |
T347A |
|
Het |
C8b |
G |
T |
4: 104,650,540 (GRCm39) |
E449D |
probably benign |
Het |
Camk4 |
T |
C |
18: 33,072,584 (GRCm39) |
S46P |
probably benign |
Het |
Ccdc113 |
G |
A |
8: 96,264,733 (GRCm39) |
R81H |
probably benign |
Het |
Cd177 |
A |
T |
7: 24,444,558 (GRCm39) |
C674* |
probably null |
Het |
Cdc6 |
T |
A |
11: 98,810,065 (GRCm39) |
V458D |
probably damaging |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Ckap2 |
G |
T |
8: 22,659,882 (GRCm39) |
P533Q |
possibly damaging |
Het |
Cma1 |
T |
A |
14: 56,181,273 (GRCm39) |
H44L |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,228,372 (GRCm39) |
S2239T |
possibly damaging |
Het |
Cntnap5b |
T |
A |
1: 100,087,802 (GRCm39) |
I141N |
probably damaging |
Het |
Col6a4 |
T |
A |
9: 105,877,885 (GRCm39) |
T2031S |
possibly damaging |
Het |
Cplane1 |
C |
T |
15: 8,248,431 (GRCm39) |
T1660M |
probably benign |
Het |
Cxcr5 |
T |
A |
9: 44,424,683 (GRCm39) |
T325S |
possibly damaging |
Het |
Dhx32 |
A |
T |
7: 133,344,417 (GRCm39) |
L204Q |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,885 (GRCm39) |
Y402H |
probably damaging |
Het |
Ecpas |
A |
T |
4: 58,849,766 (GRCm39) |
L458I |
possibly damaging |
Het |
Exoc6 |
G |
T |
19: 37,565,458 (GRCm39) |
C178F |
probably damaging |
Het |
Fam149a |
A |
G |
8: 45,803,582 (GRCm39) |
V384A |
probably benign |
Het |
Fcrl5 |
T |
C |
3: 87,365,141 (GRCm39) |
*597Q |
probably null |
Het |
Fmo3 |
T |
A |
1: 162,796,434 (GRCm39) |
H46L |
probably benign |
Het |
Gcm2 |
T |
C |
13: 41,256,840 (GRCm39) |
D303G |
probably damaging |
Het |
Gk2 |
T |
C |
5: 97,603,534 (GRCm39) |
M435V |
probably damaging |
Het |
Gli1 |
C |
A |
10: 127,171,868 (GRCm39) |
M295I |
probably damaging |
Het |
Gm11444 |
G |
T |
11: 85,737,862 (GRCm39) |
H109Q |
|
Het |
Gtpbp1 |
T |
A |
15: 79,603,483 (GRCm39) |
D182E |
|
Het |
Hnf4g |
A |
T |
3: 3,713,185 (GRCm39) |
|
probably null |
Het |
Hsf2 |
G |
A |
10: 57,388,188 (GRCm39) |
R483H |
probably damaging |
Het |
Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,715,602 (GRCm39) |
V1686A |
possibly damaging |
Het |
Larp6 |
A |
G |
9: 60,631,638 (GRCm39) |
K137E |
probably damaging |
Het |
Mboat1 |
T |
G |
13: 30,379,772 (GRCm39) |
|
probably null |
Het |
Mdh1 |
T |
C |
11: 21,508,484 (GRCm39) |
Y286C |
probably damaging |
Het |
Mga |
G |
T |
2: 119,792,417 (GRCm39) |
K2607N |
probably damaging |
Het |
Morf4l1 |
C |
A |
9: 89,979,433 (GRCm39) |
V183F |
possibly damaging |
Het |
Mroh4 |
G |
A |
15: 74,497,993 (GRCm39) |
R196W |
probably benign |
Het |
Muc16 |
C |
A |
9: 18,503,976 (GRCm39) |
M6438I |
probably damaging |
Het |
Myom3 |
A |
G |
4: 135,530,589 (GRCm39) |
Y1167C |
probably damaging |
Het |
Neurl3 |
T |
C |
1: 36,308,302 (GRCm39) |
E170G |
possibly damaging |
Het |
Nsd3 |
T |
C |
8: 26,156,050 (GRCm39) |
I539T |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,186,177 (GRCm39) |
F1313S |
probably benign |
Het |
Nxn |
A |
T |
11: 76,153,974 (GRCm39) |
V287E |
possibly damaging |
Het |
Or4a80 |
G |
A |
2: 89,582,443 (GRCm39) |
T243I |
probably benign |
Het |
Or7a38 |
A |
C |
10: 78,753,593 (GRCm39) |
L306F |
probably benign |
Het |
Or8c13 |
C |
A |
9: 38,091,748 (GRCm39) |
V124F |
probably damaging |
Het |
Pax6 |
A |
G |
2: 105,526,753 (GRCm39) |
N220D |
probably benign |
Het |
Pcdha11 |
G |
A |
18: 37,138,470 (GRCm39) |
R33H |
probably benign |
Het |
Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
Pear1 |
C |
A |
3: 87,661,945 (GRCm39) |
V477F |
possibly damaging |
Het |
Pex19 |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC |
1: 171,956,150 (GRCm39) |
|
probably null |
Het |
Pidd1 |
A |
T |
7: 141,020,400 (GRCm39) |
V539E |
probably damaging |
Het |
Ptprg |
A |
T |
14: 12,207,365 (GRCm38) |
I878F |
probably damaging |
Het |
Rabepk |
T |
C |
2: 34,675,711 (GRCm39) |
T140A |
probably benign |
Het |
Ranbp2 |
G |
T |
10: 58,299,728 (GRCm39) |
R454L |
probably damaging |
Het |
Rnf123 |
C |
T |
9: 107,935,735 (GRCm39) |
R943Q |
probably null |
Het |
Sash1 |
G |
A |
10: 8,605,481 (GRCm39) |
R970* |
probably null |
Het |
Serpinb2 |
C |
A |
1: 107,452,422 (GRCm39) |
F333L |
probably damaging |
Het |
Shank3 |
T |
A |
15: 89,387,728 (GRCm39) |
|
probably null |
Het |
Slc9a2 |
A |
C |
1: 40,765,539 (GRCm39) |
I310L |
probably damaging |
Het |
Strip2 |
T |
A |
6: 29,920,532 (GRCm39) |
|
probably null |
Het |
Thoc3 |
T |
C |
13: 54,611,565 (GRCm39) |
T241A |
probably damaging |
Het |
Tmem139 |
T |
A |
6: 42,240,199 (GRCm39) |
V2E |
probably damaging |
Het |
Usp24 |
G |
T |
4: 106,244,743 (GRCm39) |
V1233F |
probably damaging |
Het |
Vnn1 |
A |
G |
10: 23,776,645 (GRCm39) |
Q332R |
probably benign |
Het |
Wac |
T |
A |
18: 7,921,455 (GRCm39) |
H530Q |
probably damaging |
Het |
Wdr35 |
T |
A |
12: 9,028,659 (GRCm39) |
N92K |
probably benign |
Het |
Zbtb18 |
T |
G |
1: 177,274,820 (GRCm39) |
L60R |
probably damaging |
Het |
Zfp184 |
T |
A |
13: 22,144,162 (GRCm39) |
C623S |
probably damaging |
Het |
Zfp292 |
A |
G |
4: 34,806,796 (GRCm39) |
Y2088H |
probably damaging |
Het |
Zfp975 |
G |
T |
7: 42,312,096 (GRCm39) |
S172R |
probably benign |
Het |
Zswim2 |
G |
A |
2: 83,746,071 (GRCm39) |
Q456* |
probably null |
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 |
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'- TCCTAGGAACCACAGTCTCATGG -3'
(R):5'- TACAGGAGGTCTTCTGGAGC -3'
Sequencing Primer
(F):5'- CAGTCTCATGGATGACTACCAGG -3'
(R):5'- CTTCTGGAGCCTGTGACAAGTAC -3'
|
Posted On |
2019-05-15 |