Incidental Mutation 'R4774:Fer1l6'
ID |
367794 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
042412-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4774 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58449798 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 668
(L668P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: L668P
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: L668P
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 |
|
Meta Mutation Damage Score |
0.3886 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
Validation Efficiency |
98% (97/99) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
C |
6: 142,585,043 (GRCm39) |
I844V |
probably damaging |
Het |
Acnat1 |
T |
A |
4: 49,450,784 (GRCm39) |
Y109F |
probably benign |
Het |
Alox12b |
T |
C |
11: 69,054,033 (GRCm39) |
V205A |
probably benign |
Het |
Arl6ip1 |
G |
A |
7: 117,721,208 (GRCm39) |
R77C |
probably damaging |
Het |
Atp8b1 |
A |
G |
18: 64,666,730 (GRCm39) |
C1156R |
possibly damaging |
Het |
Atp8b3 |
A |
C |
10: 80,372,156 (GRCm39) |
N24K |
probably damaging |
Het |
Bdh1 |
T |
C |
16: 31,273,954 (GRCm39) |
V209A |
possibly damaging |
Het |
Blm |
A |
T |
7: 80,113,596 (GRCm39) |
C1234S |
probably damaging |
Het |
Caml |
A |
G |
13: 55,779,740 (GRCm39) |
D271G |
possibly damaging |
Het |
Capn11 |
T |
C |
17: 45,944,006 (GRCm39) |
D545G |
probably benign |
Het |
Catspere1 |
T |
C |
1: 177,765,304 (GRCm39) |
|
noncoding transcript |
Het |
Cep128 |
T |
C |
12: 91,200,969 (GRCm39) |
E347G |
probably damaging |
Het |
Cngb3 |
A |
G |
4: 19,415,713 (GRCm39) |
T408A |
possibly damaging |
Het |
Coa8 |
A |
G |
12: 111,679,823 (GRCm39) |
T33A |
possibly damaging |
Het |
Cog1 |
G |
A |
11: 113,548,253 (GRCm39) |
R18Q |
possibly damaging |
Het |
Cps1 |
T |
C |
1: 67,259,671 (GRCm39) |
F1338L |
probably damaging |
Het |
Csmd1 |
T |
C |
8: 16,059,369 (GRCm39) |
H2122R |
probably benign |
Het |
Ctu2 |
T |
G |
8: 123,207,851 (GRCm39) |
S26A |
probably benign |
Het |
Dbf4 |
G |
A |
5: 8,453,062 (GRCm39) |
|
probably benign |
Het |
Ddx23 |
A |
T |
15: 98,545,116 (GRCm39) |
D663E |
probably benign |
Het |
Dpep2 |
T |
C |
8: 106,717,388 (GRCm39) |
T123A |
possibly damaging |
Het |
Eed |
A |
G |
7: 89,613,976 (GRCm39) |
I274T |
probably damaging |
Het |
Eif3b |
A |
G |
5: 140,405,255 (GRCm39) |
D47G |
probably benign |
Het |
Epas1 |
T |
C |
17: 87,113,186 (GRCm39) |
V124A |
probably damaging |
Het |
Fnip2 |
C |
A |
3: 79,373,028 (GRCm39) |
E1017* |
probably null |
Het |
Gm43517 |
A |
T |
12: 49,436,690 (GRCm39) |
|
probably benign |
Het |
Got1 |
A |
G |
19: 43,491,345 (GRCm39) |
|
probably null |
Het |
H2-Eb2 |
T |
A |
17: 34,553,375 (GRCm39) |
V187E |
probably damaging |
Het |
H2-Q1 |
T |
C |
17: 35,540,242 (GRCm39) |
|
probably benign |
Het |
Hpgd |
T |
C |
8: 56,751,454 (GRCm39) |
V94A |
probably damaging |
Het |
Htra1 |
T |
A |
7: 130,586,756 (GRCm39) |
N446K |
probably benign |
Het |
Igkv3-4 |
T |
A |
6: 70,649,269 (GRCm39) |
S89R |
probably damaging |
Het |
Immt |
C |
T |
6: 71,829,720 (GRCm39) |
T142I |
probably damaging |
Het |
Itpkb |
C |
A |
1: 180,245,759 (GRCm39) |
P759T |
probably damaging |
Het |
Jmjd1c |
G |
A |
10: 67,060,571 (GRCm39) |
V688I |
possibly damaging |
Het |
Kbtbd13 |
G |
T |
9: 65,298,025 (GRCm39) |
R304S |
probably benign |
Het |
Lama5 |
A |
C |
2: 179,827,734 (GRCm39) |
L2176R |
probably damaging |
Het |
Lrp1b |
G |
C |
2: 40,551,544 (GRCm39) |
L418V |
probably null |
Het |
Lrrc4b |
C |
A |
7: 44,111,796 (GRCm39) |
|
probably null |
Het |
Lyst |
A |
G |
13: 13,915,182 (GRCm39) |
N3292S |
probably damaging |
Het |
Mep1b |
A |
T |
18: 21,219,241 (GRCm39) |
I132F |
probably benign |
Het |
Mettl2 |
A |
G |
11: 105,017,436 (GRCm39) |
|
probably null |
Het |
Nherf2 |
T |
C |
17: 24,863,873 (GRCm39) |
M1V |
probably null |
Het |
Niban1 |
A |
T |
1: 151,591,445 (GRCm39) |
D529V |
probably damaging |
Het |
Nmd3 |
T |
C |
3: 69,652,569 (GRCm39) |
L385S |
probably benign |
Het |
Nol4 |
T |
C |
18: 23,045,683 (GRCm39) |
E243G |
probably damaging |
Het |
Odad1 |
T |
A |
7: 45,597,804 (GRCm39) |
S571R |
probably damaging |
Het |
Or4l1 |
T |
A |
14: 50,166,726 (GRCm39) |
I92F |
probably damaging |
Het |
Or51k1 |
A |
G |
7: 103,661,795 (GRCm39) |
I38T |
probably benign |
Het |
Or5j3 |
A |
T |
2: 86,129,042 (GRCm39) |
N294I |
possibly damaging |
Het |
Or8b52 |
A |
G |
9: 38,576,519 (GRCm39) |
I207T |
probably benign |
Het |
Pcnp |
A |
G |
16: 55,837,522 (GRCm39) |
|
probably benign |
Het |
Pla2g6 |
A |
C |
15: 79,171,818 (GRCm39) |
C680G |
probably damaging |
Het |
Plekha7 |
G |
T |
7: 115,744,178 (GRCm39) |
D661E |
probably damaging |
Het |
Prim1 |
A |
T |
10: 127,862,887 (GRCm39) |
|
probably benign |
Het |
Psg29 |
T |
A |
7: 16,944,460 (GRCm39) |
N323K |
probably benign |
Het |
Ptrh2 |
G |
A |
11: 86,580,833 (GRCm39) |
R150H |
probably damaging |
Het |
Rasa1 |
A |
G |
13: 85,398,621 (GRCm39) |
|
probably benign |
Het |
Rasa3 |
T |
C |
8: 13,627,501 (GRCm39) |
D667G |
probably benign |
Het |
Rnase2a |
T |
C |
14: 51,493,201 (GRCm39) |
N55D |
probably damaging |
Het |
Rsf1 |
GCGGCGGCGGCGGCGGCGGC |
GCGGCGGCGGCGGCGGCGGCGGCGGCGGC |
7: 97,229,123 (GRCm39) |
|
probably benign |
Het |
Sbp |
T |
A |
17: 24,164,218 (GRCm39) |
N133K |
probably damaging |
Het |
Scml4 |
A |
G |
10: 42,833,743 (GRCm39) |
|
probably benign |
Het |
Sema5b |
T |
A |
16: 35,483,552 (GRCm39) |
N1063K |
probably damaging |
Het |
Serpind1 |
C |
T |
16: 17,154,272 (GRCm39) |
T33M |
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Slc15a2 |
A |
T |
16: 36,602,057 (GRCm39) |
L80* |
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,782,602 (GRCm39) |
D1039G |
probably benign |
Het |
Spon1 |
A |
G |
7: 113,639,102 (GRCm39) |
E776G |
probably damaging |
Het |
Tdp1 |
C |
T |
12: 99,868,623 (GRCm39) |
A259V |
possibly damaging |
Het |
Tex46 |
C |
A |
4: 136,337,991 (GRCm39) |
P61Q |
probably benign |
Het |
Tnr |
T |
A |
1: 159,724,636 (GRCm39) |
L1109Q |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Tpra1 |
G |
A |
6: 88,887,661 (GRCm39) |
|
probably benign |
Het |
Trim43c |
A |
T |
9: 88,729,705 (GRCm39) |
H383L |
possibly damaging |
Het |
Trip6 |
A |
G |
5: 137,308,433 (GRCm39) |
C439R |
probably damaging |
Het |
Tsen2 |
C |
T |
6: 115,552,894 (GRCm39) |
S398L |
possibly damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,576,074 (GRCm39) |
D863G |
probably damaging |
Het |
Ube2d2a |
A |
G |
18: 35,903,498 (GRCm39) |
|
probably benign |
Het |
Umad1 |
T |
A |
6: 8,427,181 (GRCm39) |
F145I |
probably damaging |
Het |
Unc5c |
A |
T |
3: 141,534,278 (GRCm39) |
E933V |
probably damaging |
Het |
Vmn1r208 |
A |
G |
13: 22,956,646 (GRCm39) |
F284L |
probably benign |
Het |
Vmn2r53 |
T |
A |
7: 12,334,692 (GRCm39) |
R323* |
probably null |
Het |
Zan |
G |
A |
5: 137,387,281 (GRCm39) |
T4924I |
unknown |
Het |
Zfp597 |
G |
T |
16: 3,683,851 (GRCm39) |
Q302K |
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 |
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'- TTTCATTGTGCGACAGAGAGTAG -3'
(R):5'- CCTGGACTTGTAGCTCATCACC -3'
Sequencing Primer
(F):5'- CTAAGCAAGCTGCAAAACG -3'
(R):5'- TCTCCAAGAGATGAGTTCCTAGC -3'
|
Posted On |
2015-12-29 |