Incidental Mutation 'R9180:Fer1l6'
ID |
696989 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R9180 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58494230 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1141
(V1141A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000161028
AA Change: V1141A
PolyPhen 2
Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: V1141A
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930579F01Rik |
G |
A |
3: 137,889,470 (GRCm39) |
P49L |
probably benign |
Het |
Adam34l |
T |
A |
8: 44,079,970 (GRCm39) |
R85* |
probably null |
Het |
Anapc2 |
C |
T |
2: 25,163,303 (GRCm39) |
T180I |
probably benign |
Het |
Ankib1 |
A |
T |
5: 3,756,276 (GRCm39) |
H556Q |
probably damaging |
Het |
Aox1 |
A |
T |
1: 58,378,777 (GRCm39) |
K1009* |
probably null |
Het |
Apob |
C |
T |
12: 8,047,925 (GRCm39) |
P968L |
probably damaging |
Het |
Bpi |
T |
A |
2: 158,116,608 (GRCm39) |
F335Y |
probably benign |
Het |
Cabcoco1 |
T |
C |
10: 68,272,719 (GRCm39) |
Y222C |
probably damaging |
Het |
Camk2b |
G |
T |
11: 5,939,332 (GRCm39) |
C273* |
probably null |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Cenpb |
C |
T |
2: 131,021,463 (GRCm39) |
G112S |
probably damaging |
Het |
Col6a5 |
A |
G |
9: 105,739,178 (GRCm39) |
L2585P |
probably damaging |
Het |
Cop1 |
A |
G |
1: 159,147,339 (GRCm39) |
E555G |
probably damaging |
Het |
Coro1b |
T |
C |
19: 4,203,392 (GRCm39) |
V411A |
probably benign |
Het |
Cyfip2 |
G |
A |
11: 46,176,920 (GRCm39) |
R87C |
probably damaging |
Het |
Dthd1 |
A |
C |
5: 63,045,410 (GRCm39) |
I725L |
probably benign |
Het |
Dydc1 |
A |
C |
14: 40,800,054 (GRCm39) |
E20A |
probably damaging |
Het |
Ermp1 |
T |
C |
19: 29,609,845 (GRCm39) |
I317V |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,942,556 (GRCm39) |
N483S |
possibly damaging |
Het |
Fbxo33 |
A |
G |
12: 59,251,095 (GRCm39) |
|
probably null |
Het |
Fcgbp |
G |
T |
7: 27,803,198 (GRCm39) |
E1601* |
probably null |
Het |
Fer1l5 |
A |
T |
1: 36,449,999 (GRCm39) |
S1118C |
probably null |
Het |
Flnb |
C |
T |
14: 7,818,219 (GRCm38) |
T23M |
probably damaging |
Het |
Fsip2 |
T |
C |
2: 82,815,574 (GRCm39) |
L3769P |
possibly damaging |
Het |
Gna11 |
T |
C |
10: 81,370,942 (GRCm39) |
K98R |
|
Het |
Gpat3 |
A |
T |
5: 101,032,230 (GRCm39) |
T176S |
probably benign |
Het |
Gprc5b |
A |
G |
7: 118,583,542 (GRCm39) |
L109P |
probably damaging |
Het |
Hadha |
A |
T |
5: 30,340,038 (GRCm39) |
N246K |
probably benign |
Het |
Haus3 |
G |
A |
5: 34,324,835 (GRCm39) |
Q275* |
probably null |
Het |
Higd1b |
A |
G |
11: 102,728,090 (GRCm39) |
Y44C |
possibly damaging |
Het |
Igkv1-131 |
T |
C |
6: 67,743,218 (GRCm39) |
K55R |
probably benign |
Het |
Igtp |
G |
T |
11: 58,098,091 (GRCm39) |
E421* |
probably null |
Het |
Kcnk3 |
G |
T |
5: 30,745,532 (GRCm39) |
|
probably benign |
Het |
Krtap4-13 |
A |
T |
11: 99,700,165 (GRCm39) |
C165S |
unknown |
Het |
Lrfn4 |
T |
C |
19: 4,663,353 (GRCm39) |
R394G |
probably benign |
Het |
Lrrc7 |
A |
C |
3: 157,867,011 (GRCm39) |
L910R |
possibly damaging |
Het |
Mbtd1 |
A |
G |
11: 93,823,218 (GRCm39) |
D568G |
probably damaging |
Het |
Mettl16 |
T |
A |
11: 74,693,826 (GRCm39) |
I279N |
probably benign |
Het |
Mmrn2 |
A |
G |
14: 34,121,158 (GRCm39) |
H676R |
probably benign |
Het |
Mrgprg |
T |
C |
7: 143,318,350 (GRCm39) |
K254R |
probably benign |
Het |
Muc16 |
A |
C |
9: 18,554,038 (GRCm39) |
V4085G |
unknown |
Het |
Mvp |
T |
C |
7: 126,591,822 (GRCm39) |
Q456R |
probably benign |
Het |
Myf6 |
T |
C |
10: 107,329,318 (GRCm39) |
D209G |
probably benign |
Het |
Ociad1 |
A |
G |
5: 73,467,725 (GRCm39) |
D167G |
probably benign |
Het |
Or11l3 |
A |
G |
11: 58,516,062 (GRCm39) |
L270P |
probably benign |
Het |
Or1l4 |
A |
G |
2: 37,091,292 (GRCm39) |
D13G |
probably benign |
Het |
Or51f23b |
T |
A |
7: 102,402,734 (GRCm39) |
Y134F |
probably damaging |
Het |
Or5m3 |
T |
G |
2: 85,838,325 (GRCm39) |
D68E |
probably damaging |
Het |
Or6c1b |
T |
C |
10: 129,272,858 (GRCm39) |
F59S |
probably damaging |
Het |
Phf20 |
A |
G |
2: 156,114,537 (GRCm39) |
D295G |
probably benign |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Ppp1r13b |
A |
T |
12: 111,811,416 (GRCm39) |
H157Q |
probably benign |
Het |
Prss3b |
A |
G |
6: 41,008,681 (GRCm39) |
L211P |
probably damaging |
Het |
Rbm26 |
C |
T |
14: 105,391,039 (GRCm39) |
R149H |
unknown |
Het |
Reg3d |
C |
T |
6: 78,355,443 (GRCm39) |
C16Y |
possibly damaging |
Het |
Rrp36 |
A |
G |
17: 46,978,980 (GRCm39) |
F193L |
possibly damaging |
Het |
Rtca |
A |
T |
3: 116,282,905 (GRCm39) |
M361K |
probably benign |
Het |
Ryr3 |
T |
G |
2: 112,491,981 (GRCm39) |
D3790A |
probably damaging |
Het |
Serpina3n |
C |
A |
12: 104,377,440 (GRCm39) |
A231E |
probably benign |
Het |
Sh2d2a |
A |
G |
3: 87,759,070 (GRCm39) |
D224G |
possibly damaging |
Het |
Sh3bp2 |
A |
T |
5: 34,718,377 (GRCm39) |
K526* |
probably null |
Het |
Slc12a2 |
A |
G |
18: 58,069,469 (GRCm39) |
T1017A |
possibly damaging |
Het |
Slc12a8 |
T |
C |
16: 33,361,397 (GRCm39) |
L93P |
probably damaging |
Het |
Slc5a6 |
A |
G |
5: 31,195,190 (GRCm39) |
I469T |
probably damaging |
Het |
Smarcc1 |
T |
A |
9: 109,964,728 (GRCm39) |
V95D |
probably damaging |
Het |
Snap29 |
T |
A |
16: 17,224,163 (GRCm39) |
S59R |
probably damaging |
Het |
Tmem121b |
T |
A |
6: 120,469,784 (GRCm39) |
Y311F |
probably damaging |
Het |
Tpcn1 |
C |
A |
5: 120,694,000 (GRCm39) |
V199L |
probably benign |
Het |
Ttn |
T |
C |
2: 76,618,721 (GRCm39) |
I16188V |
probably benign |
Het |
Usp24 |
T |
C |
4: 106,216,247 (GRCm39) |
I366T |
possibly damaging |
Het |
Utrn |
T |
A |
10: 12,545,463 (GRCm39) |
E1727D |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,182,701 (GRCm39) |
D301G |
probably damaging |
Het |
Vmn2r104 |
T |
C |
17: 20,263,087 (GRCm39) |
T125A |
probably benign |
Het |
Vmn2r73 |
T |
G |
7: 85,507,123 (GRCm39) |
I730L |
probably benign |
Het |
Zfp352 |
A |
T |
4: 90,113,118 (GRCm39) |
K419N |
probably benign |
Het |
Zfp84 |
C |
A |
7: 29,474,873 (GRCm39) |
S48R |
probably damaging |
Het |
Zfp947 |
A |
T |
17: 22,364,386 (GRCm39) |
H429Q |
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 |
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 |
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'- TTTATCTCCCTAGGAAAATGGGTAG -3'
(R):5'- ACTGACCGGGTAAATAAGACC -3'
Sequencing Primer
(F):5'- CTCCCTAGGAAAATGGGTAGTTTTTC -3'
(R):5'- GGTAAATAAGACCCAGGATTACCC -3'
|
Posted On |
2022-02-07 |