Incidental Mutation 'R1950:Fer1l4'
ID |
217177 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l4
|
Ensembl Gene |
ENSMUSG00000013338 |
Gene Name |
fer-1 like family member 4 |
Synonyms |
9130402C12Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1950 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155861059-155894867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 155890194 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 244
(I244V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109611
AA Change: I244V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105240 Gene: ENSMUSG00000013338 AA Change: I244V
Domain | Start | End | E-Value | Type |
PDB:3L9B|A
|
1 |
122 |
1e-12 |
PDB |
Blast:C2
|
2 |
96 |
2e-51 |
BLAST |
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
low complexity region
|
178 |
197 |
N/A |
INTRINSIC |
C2
|
228 |
329 |
2.87e-7 |
SMART |
FerI
|
312 |
383 |
7.93e-29 |
SMART |
C2
|
391 |
501 |
3.64e-9 |
SMART |
low complexity region
|
574 |
581 |
N/A |
INTRINSIC |
low complexity region
|
611 |
622 |
N/A |
INTRINSIC |
low complexity region
|
829 |
837 |
N/A |
INTRINSIC |
low complexity region
|
844 |
855 |
N/A |
INTRINSIC |
FerB
|
861 |
932 |
7.27e-37 |
SMART |
C2
|
968 |
1076 |
3.73e-6 |
SMART |
low complexity region
|
1249 |
1257 |
N/A |
INTRINSIC |
low complexity region
|
1280 |
1310 |
N/A |
INTRINSIC |
low complexity region
|
1327 |
1340 |
N/A |
INTRINSIC |
low complexity region
|
1397 |
1407 |
N/A |
INTRINSIC |
C2
|
1449 |
1548 |
5.65e-15 |
SMART |
C2
|
1692 |
1822 |
4.22e-5 |
SMART |
Pfam:Ferlin_C
|
1834 |
1987 |
1.6e-74 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
A |
G |
5: 4,010,677 (GRCm39) |
N478S |
probably damaging |
Het |
Als2 |
T |
A |
1: 59,224,760 (GRCm39) |
|
probably null |
Het |
Ankfy1 |
A |
G |
11: 72,651,155 (GRCm39) |
Y1035C |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,616,608 (GRCm39) |
T2394A |
probably damaging |
Het |
Axin1 |
G |
C |
17: 26,412,938 (GRCm39) |
G780R |
possibly damaging |
Het |
Carm1 |
A |
T |
9: 21,485,812 (GRCm39) |
T127S |
probably benign |
Het |
Ccdc73 |
T |
C |
2: 104,757,280 (GRCm39) |
I81T |
probably benign |
Het |
Cdh12 |
T |
C |
15: 21,237,965 (GRCm39) |
Y67H |
probably damaging |
Het |
Cfap65 |
C |
A |
1: 74,946,819 (GRCm39) |
G1297V |
probably damaging |
Het |
Cfap74 |
T |
C |
4: 155,511,887 (GRCm39) |
|
probably null |
Het |
Chit1 |
A |
G |
1: 134,078,968 (GRCm39) |
Y426C |
probably damaging |
Het |
Clpp |
A |
G |
17: 57,303,039 (GRCm39) |
|
probably benign |
Het |
Clrn3 |
T |
G |
7: 135,115,813 (GRCm39) |
Y179S |
possibly damaging |
Het |
Cntn5 |
A |
C |
9: 9,781,774 (GRCm39) |
M635R |
probably damaging |
Het |
Col12a1 |
A |
T |
9: 79,537,831 (GRCm39) |
S2546T |
possibly damaging |
Het |
Ctla2b |
T |
C |
13: 61,043,863 (GRCm39) |
N102S |
possibly damaging |
Het |
Cwf19l2 |
A |
T |
9: 3,418,674 (GRCm39) |
I154F |
probably benign |
Het |
Dffa |
C |
A |
4: 149,188,839 (GRCm39) |
S44R |
probably benign |
Het |
Ehbp1 |
T |
A |
11: 22,009,228 (GRCm39) |
K930M |
probably damaging |
Het |
Erc2 |
T |
A |
14: 27,634,857 (GRCm39) |
S473T |
probably damaging |
Het |
Fbxw24 |
A |
T |
9: 109,434,481 (GRCm39) |
L373H |
probably benign |
Het |
Fgfr2 |
G |
A |
7: 129,800,211 (GRCm39) |
T245M |
probably damaging |
Het |
Garin1b |
C |
T |
6: 29,335,815 (GRCm39) |
|
probably null |
Het |
Gbp9 |
T |
A |
5: 105,229,112 (GRCm39) |
M512L |
probably benign |
Het |
Glg1 |
T |
A |
8: 111,892,271 (GRCm39) |
K251I |
possibly damaging |
Het |
Gm10553 |
A |
G |
1: 85,078,141 (GRCm39) |
D86G |
possibly damaging |
Het |
Gm5622 |
T |
C |
14: 51,893,229 (GRCm39) |
V52A |
probably benign |
Het |
Gucy1b1 |
A |
G |
3: 81,952,716 (GRCm39) |
V239A |
probably benign |
Het |
Gzma |
A |
G |
13: 113,230,463 (GRCm39) |
L246P |
probably damaging |
Het |
Hibadh |
C |
A |
6: 52,533,448 (GRCm39) |
A223S |
probably benign |
Het |
Hydin |
C |
A |
8: 111,336,619 (GRCm39) |
T5132N |
possibly damaging |
Het |
Insrr |
A |
G |
3: 87,721,820 (GRCm39) |
N1198S |
probably damaging |
Het |
Ivl |
T |
C |
3: 92,479,420 (GRCm39) |
E215G |
possibly damaging |
Het |
Jmjd1c |
A |
G |
10: 67,075,701 (GRCm39) |
D2037G |
possibly damaging |
Het |
Kcna3 |
G |
A |
3: 106,944,988 (GRCm39) |
C417Y |
probably damaging |
Het |
Klra2 |
T |
C |
6: 131,207,078 (GRCm39) |
N177S |
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,741,892 (GRCm39) |
S645P |
probably damaging |
Het |
Lrrc15 |
T |
C |
16: 30,092,649 (GRCm39) |
E230G |
probably benign |
Het |
Magel2 |
C |
A |
7: 62,028,163 (GRCm39) |
Q356K |
possibly damaging |
Het |
Mcm6 |
A |
G |
1: 128,273,726 (GRCm39) |
V368A |
probably benign |
Het |
Myh8 |
G |
A |
11: 67,169,830 (GRCm39) |
V50M |
possibly damaging |
Het |
Myrf |
A |
T |
19: 10,195,554 (GRCm39) |
F419I |
possibly damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Or10ak16 |
G |
A |
4: 118,750,537 (GRCm39) |
V86M |
probably benign |
Het |
Or52i2 |
A |
G |
7: 102,319,684 (GRCm39) |
M186V |
probably benign |
Het |
Otud4 |
G |
A |
8: 80,372,961 (GRCm39) |
R93H |
probably damaging |
Het |
Pank4 |
T |
A |
4: 155,056,977 (GRCm39) |
M390K |
probably benign |
Het |
Pecam1 |
A |
G |
11: 106,576,029 (GRCm39) |
V401A |
probably damaging |
Het |
Prdm6 |
C |
A |
18: 53,669,796 (GRCm39) |
T138K |
possibly damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Prpf8 |
A |
G |
11: 75,387,337 (GRCm39) |
E1206G |
possibly damaging |
Het |
Prr30 |
A |
T |
14: 101,435,377 (GRCm39) |
I395N |
probably benign |
Het |
Rab27a |
G |
A |
9: 72,982,751 (GRCm39) |
G19R |
probably damaging |
Het |
Ramacl |
A |
G |
13: 67,055,269 (GRCm39) |
|
probably benign |
Het |
Rrp12 |
A |
G |
19: 41,881,029 (GRCm39) |
V134A |
probably damaging |
Het |
Scly |
A |
G |
1: 91,233,116 (GRCm39) |
T76A |
probably benign |
Het |
Scube3 |
T |
C |
17: 28,383,274 (GRCm39) |
S439P |
possibly damaging |
Het |
Shf |
G |
A |
2: 122,199,163 (GRCm39) |
P51S |
probably damaging |
Het |
Sipa1l1 |
T |
C |
12: 82,388,233 (GRCm39) |
F153S |
probably damaging |
Het |
Slc25a30 |
T |
G |
14: 76,007,007 (GRCm39) |
K163T |
possibly damaging |
Het |
Slc26a8 |
T |
A |
17: 28,863,614 (GRCm39) |
D715V |
probably benign |
Het |
Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
Smr2 |
C |
CT |
5: 88,256,685 (GRCm39) |
|
probably null |
Het |
Sp6 |
T |
G |
11: 96,912,940 (GRCm39) |
S218A |
probably benign |
Het |
Spata21 |
T |
C |
4: 140,838,716 (GRCm39) |
V589A |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 178,044,593 (GRCm39) |
I71V |
probably benign |
Het |
Syne2 |
G |
T |
12: 75,999,644 (GRCm39) |
G2347C |
probably benign |
Het |
Tenm2 |
C |
T |
11: 35,954,004 (GRCm39) |
G1236R |
possibly damaging |
Het |
Thbs4 |
A |
T |
13: 92,906,079 (GRCm39) |
N387K |
probably damaging |
Het |
Tmem184a |
T |
C |
5: 139,793,381 (GRCm39) |
D216G |
probably damaging |
Het |
Tprg1 |
T |
A |
16: 25,136,098 (GRCm39) |
S30T |
possibly damaging |
Het |
Trip12 |
A |
T |
1: 84,738,522 (GRCm39) |
W778R |
probably damaging |
Het |
Ttpa |
T |
C |
4: 20,008,633 (GRCm39) |
L65P |
probably damaging |
Het |
Ush2a |
A |
T |
1: 188,487,382 (GRCm39) |
N3050I |
probably damaging |
Het |
Xpot |
T |
C |
10: 121,455,053 (GRCm39) |
I30V |
probably benign |
Het |
Zfp944 |
A |
G |
17: 22,558,681 (GRCm39) |
S189P |
probably benign |
Het |
Zftraf1 |
A |
G |
15: 76,543,417 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Fer1l4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00417:Fer1l4
|
APN |
2 |
155,861,840 (GRCm39) |
nonsense |
probably null |
|
IGL01025:Fer1l4
|
APN |
2 |
155,894,105 (GRCm39) |
missense |
probably benign |
0.41 |
IGL01103:Fer1l4
|
APN |
2 |
155,886,361 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01322:Fer1l4
|
APN |
2 |
155,862,259 (GRCm39) |
splice site |
probably null |
|
IGL01391:Fer1l4
|
APN |
2 |
155,878,376 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02176:Fer1l4
|
APN |
2 |
155,890,371 (GRCm39) |
missense |
probably benign |
|
IGL02267:Fer1l4
|
APN |
2 |
155,873,172 (GRCm39) |
missense |
possibly damaging |
0.60 |
IGL02291:Fer1l4
|
APN |
2 |
155,861,458 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02385:Fer1l4
|
APN |
2 |
155,887,348 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02423:Fer1l4
|
APN |
2 |
155,894,827 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02596:Fer1l4
|
APN |
2 |
155,881,052 (GRCm39) |
missense |
probably benign |
|
IGL02612:Fer1l4
|
APN |
2 |
155,889,848 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02716:Fer1l4
|
APN |
2 |
155,871,635 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02738:Fer1l4
|
APN |
2 |
155,887,648 (GRCm39) |
missense |
probably benign |
|
IGL03035:Fer1l4
|
APN |
2 |
155,864,526 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL03083:Fer1l4
|
APN |
2 |
155,881,286 (GRCm39) |
unclassified |
probably benign |
|
IGL03201:Fer1l4
|
APN |
2 |
155,886,650 (GRCm39) |
missense |
probably benign |
0.32 |
IGL03349:Fer1l4
|
APN |
2 |
155,886,654 (GRCm39) |
nonsense |
probably null |
|
R0033:Fer1l4
|
UTSW |
2 |
155,866,026 (GRCm39) |
splice site |
probably benign |
|
R0356:Fer1l4
|
UTSW |
2 |
155,865,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R0477:Fer1l4
|
UTSW |
2 |
155,894,806 (GRCm39) |
missense |
probably benign |
0.43 |
R0504:Fer1l4
|
UTSW |
2 |
155,894,115 (GRCm39) |
missense |
probably benign |
0.36 |
R0731:Fer1l4
|
UTSW |
2 |
155,865,990 (GRCm39) |
missense |
probably benign |
0.17 |
R0800:Fer1l4
|
UTSW |
2 |
155,887,583 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0884:Fer1l4
|
UTSW |
2 |
155,861,233 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1017:Fer1l4
|
UTSW |
2 |
155,891,398 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1266:Fer1l4
|
UTSW |
2 |
155,888,169 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1544:Fer1l4
|
UTSW |
2 |
155,887,553 (GRCm39) |
missense |
probably benign |
0.00 |
R1657:Fer1l4
|
UTSW |
2 |
155,877,518 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1699:Fer1l4
|
UTSW |
2 |
155,871,605 (GRCm39) |
missense |
probably benign |
0.14 |
R1816:Fer1l4
|
UTSW |
2 |
155,877,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R2117:Fer1l4
|
UTSW |
2 |
155,881,038 (GRCm39) |
missense |
probably benign |
0.00 |
R2219:Fer1l4
|
UTSW |
2 |
155,873,684 (GRCm39) |
missense |
probably damaging |
0.99 |
R2220:Fer1l4
|
UTSW |
2 |
155,873,684 (GRCm39) |
missense |
probably damaging |
0.99 |
R2879:Fer1l4
|
UTSW |
2 |
155,894,120 (GRCm39) |
missense |
probably damaging |
1.00 |
R3746:Fer1l4
|
UTSW |
2 |
155,876,968 (GRCm39) |
missense |
probably benign |
0.01 |
R3806:Fer1l4
|
UTSW |
2 |
155,887,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R3807:Fer1l4
|
UTSW |
2 |
155,887,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R4224:Fer1l4
|
UTSW |
2 |
155,862,309 (GRCm39) |
missense |
probably benign |
0.37 |
R4274:Fer1l4
|
UTSW |
2 |
155,862,464 (GRCm39) |
missense |
probably damaging |
1.00 |
R4569:Fer1l4
|
UTSW |
2 |
155,878,559 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4619:Fer1l4
|
UTSW |
2 |
155,889,007 (GRCm39) |
missense |
probably damaging |
1.00 |
R4707:Fer1l4
|
UTSW |
2 |
155,887,543 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4914:Fer1l4
|
UTSW |
2 |
155,873,220 (GRCm39) |
missense |
probably benign |
0.41 |
R4915:Fer1l4
|
UTSW |
2 |
155,873,220 (GRCm39) |
missense |
probably benign |
0.41 |
R4917:Fer1l4
|
UTSW |
2 |
155,873,220 (GRCm39) |
missense |
probably benign |
0.41 |
R4918:Fer1l4
|
UTSW |
2 |
155,873,220 (GRCm39) |
missense |
probably benign |
0.41 |
R4941:Fer1l4
|
UTSW |
2 |
155,887,009 (GRCm39) |
missense |
probably damaging |
1.00 |
R5011:Fer1l4
|
UTSW |
2 |
155,873,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R5013:Fer1l4
|
UTSW |
2 |
155,873,135 (GRCm39) |
missense |
probably damaging |
1.00 |
R5130:Fer1l4
|
UTSW |
2 |
155,891,386 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5385:Fer1l4
|
UTSW |
2 |
155,879,286 (GRCm39) |
nonsense |
probably null |
|
R5441:Fer1l4
|
UTSW |
2 |
155,865,177 (GRCm39) |
missense |
probably benign |
0.00 |
R5555:Fer1l4
|
UTSW |
2 |
155,890,109 (GRCm39) |
missense |
probably damaging |
1.00 |
R5838:Fer1l4
|
UTSW |
2 |
155,893,913 (GRCm39) |
missense |
probably benign |
0.01 |
R6125:Fer1l4
|
UTSW |
2 |
155,888,907 (GRCm39) |
missense |
probably damaging |
1.00 |
R6184:Fer1l4
|
UTSW |
2 |
155,890,211 (GRCm39) |
missense |
probably damaging |
1.00 |
R6246:Fer1l4
|
UTSW |
2 |
155,866,902 (GRCm39) |
missense |
probably damaging |
0.99 |
R6248:Fer1l4
|
UTSW |
2 |
155,888,091 (GRCm39) |
missense |
probably damaging |
1.00 |
R6274:Fer1l4
|
UTSW |
2 |
155,871,188 (GRCm39) |
missense |
probably damaging |
1.00 |
R6298:Fer1l4
|
UTSW |
2 |
155,866,660 (GRCm39) |
missense |
probably damaging |
1.00 |
R6362:Fer1l4
|
UTSW |
2 |
155,890,170 (GRCm39) |
missense |
probably benign |
0.08 |
R6490:Fer1l4
|
UTSW |
2 |
155,889,834 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6494:Fer1l4
|
UTSW |
2 |
155,887,390 (GRCm39) |
missense |
probably benign |
0.02 |
R6516:Fer1l4
|
UTSW |
2 |
155,877,119 (GRCm39) |
missense |
probably damaging |
0.98 |
R6530:Fer1l4
|
UTSW |
2 |
155,889,785 (GRCm39) |
critical splice donor site |
probably null |
|
R6740:Fer1l4
|
UTSW |
2 |
155,873,142 (GRCm39) |
missense |
probably damaging |
1.00 |
R7039:Fer1l4
|
UTSW |
2 |
155,878,650 (GRCm39) |
missense |
probably benign |
0.05 |
R7121:Fer1l4
|
UTSW |
2 |
155,886,477 (GRCm39) |
missense |
probably benign |
0.13 |
R7132:Fer1l4
|
UTSW |
2 |
155,887,546 (GRCm39) |
missense |
probably damaging |
0.98 |
R7382:Fer1l4
|
UTSW |
2 |
155,862,669 (GRCm39) |
nonsense |
probably null |
|
R7631:Fer1l4
|
UTSW |
2 |
155,890,195 (GRCm39) |
missense |
probably damaging |
1.00 |
R7693:Fer1l4
|
UTSW |
2 |
155,862,351 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7730:Fer1l4
|
UTSW |
2 |
155,890,854 (GRCm39) |
missense |
probably benign |
|
R8021:Fer1l4
|
UTSW |
2 |
155,864,511 (GRCm39) |
missense |
probably damaging |
0.98 |
R8161:Fer1l4
|
UTSW |
2 |
155,866,555 (GRCm39) |
missense |
probably benign |
0.03 |
R8171:Fer1l4
|
UTSW |
2 |
155,890,151 (GRCm39) |
missense |
probably benign |
0.29 |
R8241:Fer1l4
|
UTSW |
2 |
155,891,585 (GRCm39) |
missense |
probably benign |
|
R8245:Fer1l4
|
UTSW |
2 |
155,886,934 (GRCm39) |
critical splice donor site |
probably null |
|
R8280:Fer1l4
|
UTSW |
2 |
155,891,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R8369:Fer1l4
|
UTSW |
2 |
155,861,680 (GRCm39) |
missense |
probably benign |
0.17 |
R8403:Fer1l4
|
UTSW |
2 |
155,894,163 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8702:Fer1l4
|
UTSW |
2 |
155,861,310 (GRCm39) |
missense |
probably benign |
0.00 |
R8804:Fer1l4
|
UTSW |
2 |
155,893,914 (GRCm39) |
missense |
probably benign |
0.28 |
R8814:Fer1l4
|
UTSW |
2 |
155,894,163 (GRCm39) |
missense |
probably benign |
0.04 |
R8817:Fer1l4
|
UTSW |
2 |
155,890,143 (GRCm39) |
missense |
probably damaging |
0.99 |
R9325:Fer1l4
|
UTSW |
2 |
155,877,934 (GRCm39) |
missense |
probably damaging |
1.00 |
R9342:Fer1l4
|
UTSW |
2 |
155,877,196 (GRCm39) |
missense |
probably benign |
0.08 |
R9527:Fer1l4
|
UTSW |
2 |
155,871,617 (GRCm39) |
missense |
probably damaging |
0.96 |
R9661:Fer1l4
|
UTSW |
2 |
155,862,336 (GRCm39) |
missense |
probably damaging |
0.98 |
RF030:Fer1l4
|
UTSW |
2 |
155,887,449 (GRCm39) |
small deletion |
probably benign |
|
X0063:Fer1l4
|
UTSW |
2 |
155,876,931 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fer1l4
|
UTSW |
2 |
155,890,349 (GRCm39) |
missense |
probably null |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TACTCTTTCCCCGGGATGAC -3'
(R):5'- CCAGGACTTCCAGGTATGAC -3'
Sequencing Primer
(F):5'- GAACCAGCGACTTTGCATCCTG -3'
(R):5'- AGGACTTCCAGGTATGACTCTCAG -3'
|
Posted On |
2014-08-01 |