Incidental Mutation 'R5175:Fer1l6'
| ID |
399207 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1 like family member 6 |
| Synonyms |
EG631797 |
| MMRRC Submission |
042755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 58422126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 108
(G108E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: G108E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: G108E
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr2 |
A |
C |
11: 20,030,114 (GRCm39) |
M215R |
probably benign |
Het |
| Ago2 |
A |
T |
15: 72,996,067 (GRCm39) |
I354K |
possibly damaging |
Het |
| Angel2 |
T |
A |
1: 190,673,081 (GRCm39) |
C72* |
probably null |
Het |
| Ank2 |
T |
A |
3: 126,797,673 (GRCm39) |
H679L |
probably damaging |
Het |
| Anks1 |
A |
T |
17: 28,261,562 (GRCm39) |
Q694L |
probably damaging |
Het |
| Aox3 |
C |
T |
1: 58,211,487 (GRCm39) |
P1015S |
probably benign |
Het |
| Arhgap35 |
C |
A |
7: 16,296,524 (GRCm39) |
R847L |
probably damaging |
Het |
| Bag4 |
C |
A |
8: 26,258,379 (GRCm39) |
C316F |
probably damaging |
Het |
| Camkv |
T |
A |
9: 107,824,581 (GRCm39) |
I258N |
probably damaging |
Het |
| Cpt1c |
G |
A |
7: 44,620,781 (GRCm39) |
A28V |
probably damaging |
Het |
| Cyp2j13 |
A |
T |
4: 95,956,452 (GRCm39) |
M219K |
possibly damaging |
Het |
| Dclk1 |
G |
T |
3: 55,154,648 (GRCm39) |
R26L |
possibly damaging |
Het |
| Diras2 |
A |
T |
13: 52,662,007 (GRCm39) |
I100N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,448,550 (GRCm39) |
N4204K |
probably damaging |
Het |
| Dnase1l3 |
T |
A |
14: 7,987,386 (GRCm38) |
K55* |
probably null |
Het |
| Dusp6 |
A |
G |
10: 99,099,864 (GRCm39) |
D104G |
possibly damaging |
Het |
| Eif5b |
A |
G |
1: 38,084,468 (GRCm39) |
T819A |
probably damaging |
Het |
| Elfn2 |
A |
T |
15: 78,558,073 (GRCm39) |
L158H |
probably damaging |
Het |
| Erp44 |
T |
C |
4: 48,196,823 (GRCm39) |
T367A |
probably benign |
Het |
| Fasn |
A |
T |
11: 120,707,195 (GRCm39) |
D843E |
probably benign |
Het |
| Fbxw25 |
T |
C |
9: 109,493,631 (GRCm39) |
Y20C |
probably damaging |
Het |
| Fndc7 |
C |
T |
3: 108,776,482 (GRCm39) |
V520I |
probably benign |
Het |
| Gm17019 |
A |
G |
5: 15,082,817 (GRCm39) |
W46R |
possibly damaging |
Het |
| Gorab |
G |
T |
1: 163,214,214 (GRCm39) |
Q239K |
probably damaging |
Het |
| Gsdma2 |
A |
G |
11: 98,543,438 (GRCm39) |
T76A |
probably benign |
Het |
| Hnrnpll |
A |
C |
17: 80,341,499 (GRCm39) |
C513W |
possibly damaging |
Het |
| Ifrd2 |
T |
C |
9: 107,467,824 (GRCm39) |
L170P |
probably damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnma1 |
A |
G |
14: 23,386,106 (GRCm39) |
|
probably null |
Het |
| Kcnn3 |
T |
C |
3: 89,516,746 (GRCm39) |
F385S |
probably damaging |
Het |
| Kif18a |
T |
G |
2: 109,133,323 (GRCm39) |
|
probably null |
Het |
| Llgl2 |
A |
G |
11: 115,741,547 (GRCm39) |
K559R |
probably damaging |
Het |
| Lrrc8a |
T |
C |
2: 30,145,524 (GRCm39) |
C113R |
probably damaging |
Het |
| Mgat5 |
A |
G |
1: 127,387,649 (GRCm39) |
N535S |
probably damaging |
Het |
| Myh15 |
T |
G |
16: 48,889,789 (GRCm39) |
W127G |
possibly damaging |
Het |
| Npsr1 |
A |
G |
9: 24,046,111 (GRCm39) |
R77G |
probably benign |
Het |
| Nub1 |
T |
A |
5: 24,907,446 (GRCm39) |
S376R |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,062,254 (GRCm39) |
V228A |
probably benign |
Het |
| Or4d10c |
G |
A |
19: 12,065,926 (GRCm39) |
P77S |
probably damaging |
Het |
| Or4k47 |
A |
T |
2: 111,451,771 (GRCm39) |
I216N |
possibly damaging |
Het |
| Or5al6 |
T |
C |
2: 85,976,301 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or9i2 |
G |
A |
19: 13,815,680 (GRCm39) |
P286S |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,125,879 (GRCm39) |
L97P |
probably damaging |
Het |
| Pkn2 |
A |
G |
3: 142,504,684 (GRCm39) |
Y831H |
probably damaging |
Het |
| Plcz1 |
T |
G |
6: 139,985,389 (GRCm39) |
I51L |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,915,516 (GRCm39) |
|
probably benign |
Het |
| Prdm9 |
A |
T |
17: 15,777,713 (GRCm39) |
S124T |
probably benign |
Het |
| Prkag1 |
A |
C |
15: 98,713,596 (GRCm39) |
V33G |
possibly damaging |
Het |
| Rab25 |
T |
A |
3: 88,450,728 (GRCm39) |
Y57F |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,545 (GRCm39) |
I638V |
probably benign |
Het |
| Rest |
C |
A |
5: 77,416,219 (GRCm39) |
D144E |
probably damaging |
Het |
| Rpa2 |
A |
G |
4: 132,505,151 (GRCm39) |
D260G |
probably damaging |
Het |
| Sf3b3 |
A |
G |
8: 111,560,467 (GRCm39) |
V425A |
probably benign |
Het |
| Sidt2 |
A |
T |
9: 45,863,086 (GRCm39) |
M15K |
probably damaging |
Het |
| Slc22a17 |
A |
G |
14: 55,144,748 (GRCm39) |
L555P |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,595,719 (GRCm39) |
D282G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,748,284 (GRCm39) |
|
probably null |
Het |
| Spmap2l |
C |
T |
5: 77,164,317 (GRCm39) |
P107S |
probably benign |
Het |
| Srcin1 |
A |
G |
11: 97,464,703 (GRCm39) |
W15R |
probably damaging |
Het |
| Stra6l |
A |
G |
4: 45,870,860 (GRCm39) |
T259A |
probably benign |
Het |
| Ube3a |
T |
C |
7: 58,938,465 (GRCm39) |
F741S |
probably damaging |
Het |
| Vasp |
C |
A |
7: 18,998,594 (GRCm39) |
M54I |
probably benign |
Het |
| Vmn1r174 |
A |
T |
7: 23,454,153 (GRCm39) |
H273L |
probably benign |
Het |
| Vmn2r50 |
T |
A |
7: 9,771,644 (GRCm39) |
I686F |
probably damaging |
Het |
| Vmn2r76 |
T |
C |
7: 85,877,915 (GRCm39) |
E494G |
probably benign |
Het |
| Zfp788 |
A |
G |
7: 41,298,753 (GRCm39) |
E443G |
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 |
|
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 |
|
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'- AGCAAAACTGCTGACTAAGATCCATG -3'
(R):5'- AATGGGCTGTTGGTCCCTTC -3'
Sequencing Primer
(F):5'- TCCATGATGGAGAGATCAAATCTC -3'
(R):5'- TCCTTCACTGTGGGCCCAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation