Incidental Mutation 'R8817:Fer1l4'
ID |
672782 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l4
|
Ensembl Gene |
ENSMUSG00000013338 |
Gene Name |
fer-1 like family member 4 |
Synonyms |
9130402C12Rik |
MMRRC Submission |
068727-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8817 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
155861059-155894867 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 155890143 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 261
(T261S)
|
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: T261S
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000105240 Gene: ENSMUSG00000013338 AA Change: T261S
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: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm4 |
A |
G |
4: 144,400,361 (GRCm39) |
V139A |
probably benign |
Het |
Aass |
A |
T |
6: 23,097,195 (GRCm39) |
Y41* |
probably null |
Het |
AI429214 |
G |
A |
8: 37,461,268 (GRCm39) |
V139I |
probably benign |
Het |
Cacna1a |
G |
A |
8: 85,365,426 (GRCm39) |
A2190T |
probably benign |
Het |
Cstpp1 |
A |
G |
2: 91,107,343 (GRCm39) |
Y320H |
probably benign |
Het |
Cutc |
T |
C |
19: 43,744,113 (GRCm39) |
V38A |
probably benign |
Het |
Cxcl10 |
G |
T |
5: 92,495,230 (GRCm39) |
P98H |
probably damaging |
Het |
Dop1a |
T |
C |
9: 86,396,003 (GRCm39) |
S822P |
possibly damaging |
Het |
Dusp19 |
T |
C |
2: 80,454,631 (GRCm39) |
L117P |
probably damaging |
Het |
Emc3 |
A |
G |
6: 113,492,868 (GRCm39) |
F261S |
probably damaging |
Het |
Ephx2 |
T |
C |
14: 66,344,725 (GRCm39) |
T200A |
probably benign |
Het |
Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
Ethe1 |
T |
C |
7: 24,305,727 (GRCm39) |
I158T |
probably damaging |
Het |
Fancm |
C |
T |
12: 65,167,331 (GRCm39) |
R1547C |
probably damaging |
Het |
Fyb2 |
A |
G |
4: 104,802,652 (GRCm39) |
R185G |
probably benign |
Het |
Gabrp |
A |
T |
11: 33,504,464 (GRCm39) |
S284T |
possibly damaging |
Het |
Gga2 |
G |
A |
7: 121,590,845 (GRCm39) |
R488* |
probably null |
Het |
Gm9758 |
A |
G |
5: 14,962,230 (GRCm39) |
L126S |
probably damaging |
Het |
Gse1 |
T |
C |
8: 121,294,542 (GRCm39) |
F290L |
probably damaging |
Het |
Hdgfl1 |
A |
G |
13: 26,954,068 (GRCm39) |
S2P |
probably damaging |
Het |
Hmmr |
G |
A |
11: 40,612,499 (GRCm39) |
S206F |
probably damaging |
Het |
Huwe1 |
A |
G |
X: 150,669,993 (GRCm39) |
K1482R |
probably benign |
Het |
Lama2 |
A |
T |
10: 27,063,869 (GRCm39) |
W1307R |
probably damaging |
Het |
Map3k6 |
A |
G |
4: 132,974,071 (GRCm39) |
K517E |
probably benign |
Het |
Mbl1 |
T |
A |
14: 40,875,555 (GRCm39) |
L3Q |
unknown |
Het |
Mepe |
G |
T |
5: 104,485,151 (GRCm39) |
R97L |
probably benign |
Het |
Minpp1 |
T |
A |
19: 32,463,747 (GRCm39) |
M136K |
possibly damaging |
Het |
Mrgprb1 |
T |
A |
7: 48,097,070 (GRCm39) |
I281F |
probably benign |
Het |
Naip5 |
T |
C |
13: 100,349,207 (GRCm39) |
I1374V |
probably benign |
Het |
Or14j8 |
A |
G |
17: 38,263,273 (GRCm39) |
I214T |
probably damaging |
Het |
Or4c12 |
A |
G |
2: 89,773,790 (GRCm39) |
L223S |
probably damaging |
Het |
Or52e19b |
A |
T |
7: 103,032,825 (GRCm39) |
I128N |
probably damaging |
Het |
Or8g34 |
C |
T |
9: 39,373,387 (GRCm39) |
S217F |
probably damaging |
Het |
Or8g37 |
G |
T |
9: 39,730,939 (GRCm39) |
M1I |
probably null |
Het |
Pamr1 |
T |
G |
2: 102,464,766 (GRCm39) |
V305G |
probably benign |
Het |
Pcbp3 |
T |
C |
10: 76,625,670 (GRCm39) |
T125A |
probably benign |
Het |
Peli2 |
G |
A |
14: 48,490,130 (GRCm39) |
E201K |
possibly damaging |
Het |
Pitpnm3 |
T |
C |
11: 71,941,894 (GRCm39) |
E971G |
possibly damaging |
Het |
Pkdrej |
A |
G |
15: 85,702,774 (GRCm39) |
V1054A |
probably damaging |
Het |
Plcb1 |
G |
A |
2: 135,175,429 (GRCm39) |
|
probably benign |
Het |
Prpf40a |
T |
C |
2: 53,042,971 (GRCm39) |
K480E |
probably damaging |
Het |
Psd3 |
A |
G |
8: 68,413,135 (GRCm39) |
I465T |
possibly damaging |
Het |
Pskh1 |
C |
T |
8: 106,656,352 (GRCm39) |
R343W |
probably damaging |
Het |
Ptprz1 |
A |
T |
6: 23,007,371 (GRCm39) |
T1645S |
probably damaging |
Het |
Rasal1 |
T |
C |
5: 120,808,416 (GRCm39) |
F483L |
probably damaging |
Het |
Rbm28 |
T |
C |
6: 29,155,023 (GRCm39) |
|
probably benign |
Het |
Recql |
G |
A |
6: 142,304,612 (GRCm39) |
|
probably benign |
Het |
Rnf40 |
T |
C |
7: 127,196,332 (GRCm39) |
V760A |
probably damaging |
Het |
Rp1l1 |
A |
T |
14: 64,268,085 (GRCm39) |
R1224W |
probably benign |
Het |
Rpgrip1 |
T |
C |
14: 52,378,056 (GRCm39) |
V468A |
probably benign |
Het |
Ryr2 |
T |
A |
13: 11,750,509 (GRCm39) |
I1921F |
possibly damaging |
Het |
Sirpa |
G |
A |
2: 129,435,558 (GRCm39) |
G9D |
unknown |
Het |
Slc28a2b |
A |
T |
2: 122,348,988 (GRCm39) |
T305S |
possibly damaging |
Het |
Slc40a1 |
A |
C |
1: 45,948,699 (GRCm39) |
V527G |
probably damaging |
Het |
Smarca4 |
T |
A |
9: 21,547,497 (GRCm39) |
M260K |
probably benign |
Het |
Smarca5 |
A |
T |
8: 81,460,379 (GRCm39) |
M119K |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,758,887 (GRCm39) |
V2206A |
unknown |
Het |
Sp4 |
A |
T |
12: 118,225,624 (GRCm39) |
V580D |
possibly damaging |
Het |
Spata31d1c |
G |
A |
13: 65,182,376 (GRCm39) |
C75Y |
probably damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Srcap |
T |
C |
7: 127,152,395 (GRCm39) |
S2220P |
probably benign |
Het |
Stra6 |
G |
T |
9: 58,059,265 (GRCm39) |
V543F |
possibly damaging |
Het |
Tenm4 |
T |
A |
7: 96,523,335 (GRCm39) |
F1626I |
probably benign |
Het |
Tjp1 |
T |
C |
7: 64,952,810 (GRCm39) |
N1508S |
probably benign |
Het |
Trrap |
T |
A |
5: 144,782,348 (GRCm39) |
L3298Q |
probably damaging |
Het |
Tsn |
A |
G |
1: 118,232,470 (GRCm39) |
L135P |
probably damaging |
Het |
Ttl |
A |
T |
2: 128,910,778 (GRCm39) |
H54L |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,660,251 (GRCm39) |
T12110S |
unknown |
Het |
Uba6 |
T |
C |
5: 86,296,772 (GRCm39) |
I306V |
probably null |
Het |
Ubap2 |
A |
G |
4: 41,223,425 (GRCm39) |
S204P |
possibly damaging |
Het |
Unc13d |
AATGCCTCCCATGCC |
AATGCCTCCCATGCCTCCCATGCC |
11: 115,958,998 (GRCm39) |
|
probably benign |
Het |
Ush2a |
A |
T |
1: 187,995,231 (GRCm39) |
M1L |
probably benign |
Het |
Vmn1r159 |
C |
A |
7: 22,542,559 (GRCm39) |
V158F |
probably benign |
Het |
Wif1 |
A |
G |
10: 120,932,621 (GRCm39) |
H333R |
possibly damaging |
Het |
Zfp282 |
T |
A |
6: 47,881,760 (GRCm39) |
N482K |
probably benign |
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 |
R1950:Fer1l4
|
UTSW |
2 |
155,890,194 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGCGGTCCCTTTCCTAAAAG -3'
(R):5'- GCCATATTCTAACCCTCGTGG -3'
Sequencing Primer
(F):5'- TAAAAGGCACCTACGTACTCTTTC -3'
(R):5'- TCGTGGCTTCTCACACGG -3'
|
Posted On |
2021-04-30 |