Incidental Mutation 'R6195:Fer1l6'
ID |
502880 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
044335-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R6195 (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 58509806 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 1423
(S1423P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159705
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: S1423P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: S1423P
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: 98.8%
|
Validation Efficiency |
97% (76/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A130010J15Rik |
A |
G |
1: 192,857,142 (GRCm39) |
|
probably null |
Het |
Aadacl2fm2 |
G |
A |
3: 59,659,623 (GRCm39) |
V359I |
probably damaging |
Het |
Abtb1 |
T |
C |
6: 88,817,718 (GRCm39) |
E50G |
probably benign |
Het |
Agbl2 |
T |
A |
2: 90,643,657 (GRCm39) |
D792E |
probably benign |
Het |
Aoc1 |
C |
A |
6: 48,885,611 (GRCm39) |
N705K |
probably damaging |
Het |
Araf |
G |
T |
X: 20,726,339 (GRCm39) |
R601L |
probably damaging |
Homo |
Arhgef7 |
C |
T |
8: 11,872,017 (GRCm39) |
T701I |
probably damaging |
Het |
Atg10 |
G |
T |
13: 91,356,555 (GRCm39) |
|
probably null |
Het |
Atp5f1c |
T |
C |
2: 10,068,926 (GRCm39) |
I116M |
possibly damaging |
Het |
Baz2b |
T |
A |
2: 59,737,855 (GRCm39) |
Q1818L |
possibly damaging |
Het |
Bod1 |
A |
G |
11: 31,616,740 (GRCm39) |
*174Q |
probably null |
Het |
Cacna1a |
A |
G |
8: 85,315,382 (GRCm39) |
Y1539C |
probably damaging |
Het |
Creb3 |
A |
G |
4: 43,566,346 (GRCm39) |
D260G |
probably benign |
Het |
Cyp1b1 |
G |
T |
17: 80,021,695 (GRCm39) |
L16M |
probably damaging |
Het |
Dhx29 |
T |
A |
13: 113,101,071 (GRCm39) |
S1205T |
probably benign |
Het |
Dlec1 |
A |
G |
9: 118,966,321 (GRCm39) |
K1097E |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,243,429 (GRCm39) |
D1578N |
probably damaging |
Het |
Dok3 |
T |
C |
13: 55,671,389 (GRCm39) |
N394S |
probably benign |
Het |
Dpcd |
A |
G |
19: 45,565,458 (GRCm39) |
D144G |
probably damaging |
Het |
Efhb |
A |
G |
17: 53,769,580 (GRCm39) |
F243S |
possibly damaging |
Het |
Eif2ak2 |
A |
T |
17: 79,178,662 (GRCm39) |
Y137* |
probably null |
Het |
Eif4e1b |
A |
G |
13: 54,932,018 (GRCm39) |
N34S |
probably null |
Het |
F2rl3 |
A |
G |
8: 73,489,513 (GRCm39) |
T247A |
probably benign |
Het |
Fan1 |
A |
T |
7: 64,004,119 (GRCm39) |
H782Q |
probably damaging |
Het |
Fer1l5 |
T |
C |
1: 36,414,367 (GRCm39) |
|
probably null |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fgfbp1 |
T |
C |
5: 44,136,704 (GRCm39) |
D196G |
possibly damaging |
Het |
Fxn |
G |
A |
19: 24,239,407 (GRCm39) |
R162C |
probably damaging |
Het |
Fxr2 |
C |
T |
11: 69,543,099 (GRCm39) |
T632M |
probably benign |
Het |
Gab1 |
A |
T |
8: 81,606,161 (GRCm39) |
Y24* |
probably null |
Het |
Gcc2 |
T |
C |
10: 58,106,806 (GRCm39) |
S681P |
probably damaging |
Het |
Git2 |
T |
C |
5: 114,905,175 (GRCm39) |
N94S |
probably benign |
Het |
Gm5799 |
T |
G |
14: 43,782,088 (GRCm39) |
L87V |
probably damaging |
Het |
Golga7b |
A |
T |
19: 42,251,886 (GRCm39) |
D44V |
probably benign |
Het |
Hace1 |
T |
A |
10: 45,546,539 (GRCm39) |
I391N |
possibly damaging |
Het |
Hmcn2 |
T |
C |
2: 31,274,127 (GRCm39) |
S1416P |
probably damaging |
Het |
Hoxa11 |
G |
A |
6: 52,222,681 (GRCm39) |
R7C |
probably damaging |
Het |
Igkv14-126 |
A |
T |
6: 67,873,475 (GRCm39) |
T68S |
possibly damaging |
Het |
Insyn2a |
T |
C |
7: 134,520,377 (GRCm39) |
D51G |
probably damaging |
Het |
Itpr3 |
T |
C |
17: 27,305,934 (GRCm39) |
I164T |
probably damaging |
Het |
Kif22 |
A |
G |
7: 126,628,131 (GRCm39) |
S540P |
probably damaging |
Het |
Ldlr |
T |
A |
9: 21,643,077 (GRCm39) |
C34* |
probably null |
Het |
Lrrtm4 |
T |
C |
6: 79,998,939 (GRCm39) |
L117P |
probably damaging |
Het |
Mad2l1 |
G |
T |
6: 66,514,612 (GRCm39) |
G94C |
possibly damaging |
Het |
Malrd1 |
C |
A |
2: 15,700,137 (GRCm39) |
H661Q |
probably damaging |
Het |
Mical3 |
T |
A |
6: 120,993,796 (GRCm39) |
|
probably benign |
Het |
Mipep |
T |
A |
14: 61,109,554 (GRCm39) |
W644R |
probably damaging |
Het |
Mycl |
A |
G |
4: 122,893,713 (GRCm39) |
D171G |
probably damaging |
Het |
Myof |
A |
G |
19: 37,901,805 (GRCm39) |
F997L |
possibly damaging |
Het |
Nagpa |
C |
T |
16: 5,021,613 (GRCm39) |
R46H |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,456,801 (GRCm39) |
Y629C |
probably damaging |
Het |
Obscn |
T |
A |
11: 58,888,033 (GRCm39) |
E2164V |
probably damaging |
Het |
Or52h1 |
A |
T |
7: 103,828,961 (GRCm39) |
V218D |
possibly damaging |
Het |
Or5ac23 |
A |
G |
16: 59,149,785 (GRCm39) |
V29A |
possibly damaging |
Het |
Or5w19 |
T |
C |
2: 87,698,904 (GRCm39) |
S190P |
possibly damaging |
Het |
Or8k25 |
T |
C |
2: 86,243,551 (GRCm39) |
I282V |
probably damaging |
Het |
Pcdh20 |
T |
C |
14: 88,705,488 (GRCm39) |
E604G |
probably benign |
Het |
Pcdhb7 |
G |
A |
18: 37,475,709 (GRCm39) |
V282I |
probably benign |
Het |
Pcnx4 |
A |
G |
12: 72,603,648 (GRCm39) |
D523G |
possibly damaging |
Het |
Pigx |
G |
A |
16: 31,903,404 (GRCm39) |
T219I |
probably damaging |
Het |
Plch1 |
G |
T |
3: 63,648,210 (GRCm39) |
P399Q |
probably damaging |
Het |
Pvrig-ps |
T |
A |
5: 138,340,537 (GRCm39) |
F74I |
possibly damaging |
Het |
Rsrp1 |
T |
A |
4: 134,654,113 (GRCm39) |
I255K |
probably damaging |
Het |
Scn1a |
T |
A |
2: 66,107,962 (GRCm39) |
Y1588F |
possibly damaging |
Het |
Serpina9 |
T |
A |
12: 103,967,666 (GRCm39) |
H243L |
probably damaging |
Het |
Tapbp |
T |
C |
17: 34,138,956 (GRCm39) |
L41P |
probably damaging |
Het |
Tbc1d16 |
T |
A |
11: 119,101,391 (GRCm39) |
K40* |
probably null |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tbc1d23 |
T |
C |
16: 57,051,713 (GRCm39) |
E6G |
possibly damaging |
Het |
Tdrd6 |
A |
G |
17: 43,940,643 (GRCm39) |
V135A |
probably damaging |
Het |
Tmem87a |
A |
T |
2: 120,222,656 (GRCm39) |
|
probably null |
Het |
Tnrc18 |
T |
A |
5: 142,750,928 (GRCm39) |
K1217N |
unknown |
Het |
Trim33 |
G |
A |
3: 103,244,848 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
A |
2: 76,567,997 (GRCm39) |
Y27632F |
probably benign |
Het |
Tubgcp6 |
A |
T |
15: 89,006,994 (GRCm39) |
D9E |
probably benign |
Het |
Uaca |
G |
A |
9: 60,777,326 (GRCm39) |
R571Q |
probably damaging |
Het |
Zfp655 |
T |
A |
5: 145,180,572 (GRCm39) |
F143L |
possibly 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 |
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 |
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'- AGATCCCTGTCAGCGCTAAC -3'
(R):5'- TCATTGGCCCTCAAGAGCATG -3'
Sequencing Primer
(F):5'- CTGAATTCAGTCGATCCAGTCAG -3'
(R):5'- ATGAACGCATGCGCAGTC -3'
|
Posted On |
2018-02-27 |