Incidental Mutation 'R5838:Fer1l4'
ID |
449700 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l4
|
Ensembl Gene |
ENSMUSG00000013338 |
Gene Name |
fer-1 like family member 4 |
Synonyms |
9130402C12Rik |
MMRRC Submission |
044058-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5838 (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 155893913 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 103
(R103G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105240
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109611]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000109611
AA Change: R103G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000105240 Gene: ENSMUSG00000013338 AA Change: R103G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120353
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ace |
G |
A |
11: 105,863,706 (GRCm39) |
V385I |
probably benign |
Het |
Apmap |
T |
C |
2: 150,427,777 (GRCm39) |
Y315C |
probably damaging |
Het |
Arhgef12 |
G |
A |
9: 42,916,904 (GRCm39) |
T414I |
probably damaging |
Het |
Cd200r1 |
C |
A |
16: 44,586,397 (GRCm39) |
A9D |
possibly damaging |
Het |
Cdkal1 |
T |
C |
13: 29,875,669 (GRCm39) |
D183G |
probably benign |
Het |
Clk1 |
C |
A |
1: 58,451,819 (GRCm39) |
C432F |
probably damaging |
Het |
Col27a1 |
G |
T |
4: 63,143,765 (GRCm39) |
L484F |
probably damaging |
Het |
Col7a1 |
A |
G |
9: 108,807,211 (GRCm39) |
E2480G |
unknown |
Het |
Dnah5 |
A |
G |
15: 28,290,341 (GRCm39) |
I1244V |
probably benign |
Het |
Dock3 |
G |
T |
9: 106,772,687 (GRCm39) |
P522Q |
possibly damaging |
Het |
Drc1 |
T |
A |
5: 30,523,857 (GRCm39) |
|
probably null |
Het |
Epas1 |
C |
T |
17: 87,131,114 (GRCm39) |
T298I |
possibly damaging |
Het |
Epha1 |
A |
T |
6: 42,338,580 (GRCm39) |
I699N |
probably damaging |
Het |
Ephb3 |
T |
C |
16: 21,040,437 (GRCm39) |
S558P |
probably damaging |
Het |
Epn1 |
T |
A |
7: 5,100,165 (GRCm39) |
L426* |
probably null |
Het |
Fam234b |
T |
C |
6: 135,202,265 (GRCm39) |
V329A |
probably benign |
Het |
Fasn |
G |
T |
11: 120,706,950 (GRCm39) |
R901S |
probably damaging |
Het |
Fbln2 |
T |
C |
6: 91,248,830 (GRCm39) |
M1165T |
possibly damaging |
Het |
G6pd2 |
T |
A |
5: 61,966,568 (GRCm39) |
D114E |
probably benign |
Het |
Galnt10 |
A |
G |
11: 57,671,882 (GRCm39) |
K391E |
probably damaging |
Het |
Gpr150 |
C |
A |
13: 76,204,045 (GRCm39) |
C300F |
probably benign |
Het |
Hhipl2 |
A |
G |
1: 183,204,479 (GRCm39) |
T151A |
probably damaging |
Het |
Hmcn2 |
C |
A |
2: 31,347,819 (GRCm39) |
L4822M |
probably damaging |
Het |
Ifi207 |
T |
A |
1: 173,559,953 (GRCm39) |
Q173L |
unknown |
Het |
Inca1 |
T |
C |
11: 70,580,707 (GRCm39) |
E86G |
probably damaging |
Het |
Iqca1 |
A |
G |
1: 90,072,667 (GRCm39) |
L71P |
probably benign |
Het |
Kank2 |
G |
T |
9: 21,706,689 (GRCm39) |
Q110K |
probably damaging |
Het |
Katnip |
A |
T |
7: 125,466,827 (GRCm39) |
M1361L |
possibly damaging |
Het |
Kif13b |
A |
T |
14: 64,975,004 (GRCm39) |
M407L |
probably damaging |
Het |
Kif5a |
A |
C |
10: 127,081,310 (GRCm39) |
I208S |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,489,469 (GRCm39) |
K4490R |
probably damaging |
Het |
Ltbp2 |
C |
T |
12: 84,835,875 (GRCm39) |
R1352H |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,345,947 (GRCm39) |
Q2061R |
possibly damaging |
Het |
Marcks |
A |
G |
10: 37,012,163 (GRCm39) |
S291P |
probably benign |
Het |
Mccc1 |
A |
G |
3: 36,039,231 (GRCm39) |
V254A |
possibly damaging |
Het |
Mdn1 |
C |
T |
4: 32,754,547 (GRCm39) |
R4683W |
probably damaging |
Het |
Mon2 |
A |
G |
10: 122,846,397 (GRCm39) |
|
probably null |
Het |
Ndrg4 |
A |
T |
8: 96,433,421 (GRCm39) |
H134L |
probably damaging |
Het |
Nek7 |
C |
A |
1: 138,462,101 (GRCm39) |
|
probably null |
Het |
Nlrc3 |
C |
T |
16: 3,771,859 (GRCm39) |
S151N |
probably damaging |
Het |
Nsl1 |
C |
A |
1: 190,802,310 (GRCm39) |
A146E |
probably benign |
Het |
Or10a3n |
A |
T |
7: 108,493,292 (GRCm39) |
F107L |
probably benign |
Het |
Or2y1e |
A |
C |
11: 49,218,760 (GRCm39) |
N174T |
probably damaging |
Het |
Or52ac1 |
A |
G |
7: 104,246,104 (GRCm39) |
Y95H |
probably benign |
Het |
Or5b120 |
T |
A |
19: 13,479,922 (GRCm39) |
Y72N |
probably damaging |
Het |
Or6c210 |
A |
T |
10: 129,495,907 (GRCm39) |
R77S |
probably benign |
Het |
Pde4d |
A |
C |
13: 109,876,976 (GRCm39) |
S41R |
probably damaging |
Het |
Phlpp1 |
T |
A |
1: 106,274,862 (GRCm39) |
L875* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,799,186 (GRCm39) |
S2802T |
possibly damaging |
Het |
Polr3b |
A |
G |
10: 84,510,454 (GRCm39) |
T500A |
probably benign |
Het |
Ppp2r2c |
T |
C |
5: 37,097,531 (GRCm39) |
V239A |
probably benign |
Het |
Pramel11 |
A |
G |
4: 143,623,490 (GRCm39) |
V228A |
probably benign |
Het |
Reln |
T |
A |
5: 22,104,111 (GRCm39) |
I3287F |
probably damaging |
Het |
Scube2 |
T |
C |
7: 109,407,651 (GRCm39) |
D763G |
probably damaging |
Het |
Setd5 |
T |
C |
6: 113,096,396 (GRCm39) |
V534A |
probably benign |
Het |
Slc10a4 |
T |
A |
5: 73,169,373 (GRCm39) |
C333S |
probably benign |
Het |
Slc15a1 |
G |
A |
14: 121,722,283 (GRCm39) |
A206V |
probably damaging |
Het |
Snx14 |
A |
G |
9: 88,273,829 (GRCm39) |
L654P |
probably damaging |
Het |
Sowahc |
G |
A |
10: 59,059,012 (GRCm39) |
A383T |
possibly damaging |
Het |
Taf1b |
A |
G |
12: 24,550,448 (GRCm39) |
D11G |
possibly damaging |
Het |
Tap1 |
C |
T |
17: 34,412,279 (GRCm39) |
Q164* |
probably null |
Het |
Tbcel |
T |
A |
9: 42,327,168 (GRCm39) |
R430W |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,965,594 (GRCm39) |
|
probably null |
Het |
Trim15 |
T |
C |
17: 37,173,732 (GRCm39) |
I259V |
probably damaging |
Het |
Trpt1 |
T |
C |
19: 6,975,668 (GRCm39) |
S141P |
probably damaging |
Het |
Tsc2 |
T |
A |
17: 24,832,190 (GRCm39) |
Q732L |
probably benign |
Het |
Tstd3 |
C |
A |
4: 21,759,622 (GRCm39) |
|
probably null |
Het |
Unc13d |
T |
C |
11: 115,955,451 (GRCm39) |
K914R |
possibly damaging |
Het |
Unk |
A |
G |
11: 115,940,157 (GRCm39) |
E170G |
probably damaging |
Het |
Uqcc2 |
T |
A |
17: 27,344,860 (GRCm39) |
K62* |
probably null |
Het |
Vim |
A |
G |
2: 13,585,001 (GRCm39) |
D394G |
probably damaging |
Het |
Wdr47 |
G |
A |
3: 108,532,052 (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 |
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 |
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'- TTCTGGCCCATGGAGAACTC -3'
(R):5'- TTGGCCCCACTATGGATCTC -3'
Sequencing Primer
(F):5'- CCCATGGAGAACTCAGGCAG -3'
(R):5'- AACTGTAGCCGCGTGTTCAG -3'
|
Posted On |
2016-12-20 |