Incidental Mutation 'R4581:Fer1l6'
ID |
343701 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
041802-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4581 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 58512075 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1514
(T1514I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159705
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: T1514I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: T1514I
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
G |
T |
14: 32,383,828 (GRCm39) |
S712R |
possibly damaging |
Het |
4933427I04Rik |
A |
G |
4: 123,754,146 (GRCm39) |
D20G |
possibly damaging |
Het |
Abca7 |
A |
G |
10: 79,842,402 (GRCm39) |
D1112G |
probably benign |
Het |
Actc1 |
G |
T |
2: 113,880,089 (GRCm39) |
H175N |
possibly damaging |
Het |
Adgrd1 |
C |
T |
5: 129,279,595 (GRCm39) |
A863V |
possibly damaging |
Het |
Ankrd17 |
T |
C |
5: 90,430,979 (GRCm39) |
D935G |
possibly damaging |
Het |
Ankrd7 |
T |
A |
6: 18,868,020 (GRCm39) |
N95K |
probably damaging |
Het |
Arhgef4 |
G |
A |
1: 34,771,205 (GRCm39) |
E1171K |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,587,121 (GRCm39) |
I991T |
probably damaging |
Het |
Cacna1s |
T |
A |
1: 135,998,708 (GRCm39) |
|
probably null |
Het |
Camk1d |
A |
T |
2: 5,359,515 (GRCm39) |
V177E |
probably benign |
Het |
Cdh18 |
T |
A |
15: 23,226,869 (GRCm39) |
I110N |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,952,761 (GRCm39) |
K1484E |
probably benign |
Het |
Cep68 |
A |
G |
11: 20,189,333 (GRCm39) |
S560P |
probably benign |
Het |
Cog3 |
G |
T |
14: 75,970,391 (GRCm39) |
T352K |
probably benign |
Het |
Cox6a2 |
A |
G |
7: 127,805,152 (GRCm39) |
S44P |
possibly damaging |
Het |
Cplane1 |
C |
A |
15: 8,201,282 (GRCm39) |
P20T |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,262,881 (GRCm39) |
V689A |
probably benign |
Het |
Ddx60 |
A |
T |
8: 62,476,295 (GRCm39) |
M1548L |
possibly damaging |
Het |
Dennd5b |
G |
T |
6: 148,918,482 (GRCm39) |
|
silent |
Het |
Dlgap2 |
T |
C |
8: 14,896,679 (GRCm39) |
Y1052H |
probably damaging |
Het |
Dnaaf5 |
T |
A |
5: 139,170,440 (GRCm39) |
D502E |
probably damaging |
Het |
Efhb |
C |
A |
17: 53,733,303 (GRCm39) |
A523S |
probably damaging |
Het |
Epha8 |
C |
T |
4: 136,660,775 (GRCm39) |
V648M |
probably damaging |
Het |
Fanca |
C |
T |
8: 124,001,077 (GRCm39) |
|
probably null |
Het |
Fbxw7 |
G |
A |
3: 84,874,852 (GRCm39) |
E205K |
probably benign |
Het |
Gm12886 |
T |
C |
4: 121,273,880 (GRCm39) |
E112G |
probably damaging |
Het |
Gm7535 |
T |
C |
17: 18,131,345 (GRCm39) |
|
probably benign |
Het |
Irf2bp2 |
T |
A |
8: 127,317,994 (GRCm39) |
Q524L |
probably damaging |
Het |
Itih4 |
A |
G |
14: 30,622,925 (GRCm39) |
D864G |
probably benign |
Het |
Kdm4c |
T |
G |
4: 74,275,576 (GRCm39) |
|
probably null |
Het |
Ltn1 |
A |
T |
16: 87,198,912 (GRCm39) |
|
probably null |
Het |
Mafa |
G |
T |
15: 75,619,585 (GRCm39) |
P63T |
unknown |
Het |
Mars2 |
T |
A |
1: 55,277,021 (GRCm39) |
L208H |
probably damaging |
Het |
Myom2 |
A |
G |
8: 15,156,459 (GRCm39) |
I769V |
probably benign |
Het |
Nyap1 |
A |
G |
5: 137,734,284 (GRCm39) |
S250P |
probably damaging |
Het |
Or8k35 |
A |
T |
2: 86,424,572 (GRCm39) |
M200K |
probably benign |
Het |
Osmr |
C |
T |
15: 6,872,375 (GRCm39) |
V240I |
probably benign |
Het |
Pcdhga3 |
A |
G |
18: 37,809,934 (GRCm39) |
T796A |
probably benign |
Het |
Pclo |
T |
C |
5: 14,725,519 (GRCm39) |
V1459A |
unknown |
Het |
Phactr3 |
A |
C |
2: 177,924,965 (GRCm39) |
H300P |
probably damaging |
Het |
Pla2g4e |
T |
G |
2: 120,016,863 (GRCm39) |
H226P |
possibly damaging |
Het |
Plcd4 |
T |
A |
1: 74,587,383 (GRCm39) |
W48R |
probably damaging |
Het |
Prdm16 |
A |
G |
4: 154,407,810 (GRCm39) |
S1140P |
probably damaging |
Het |
Rarg |
A |
C |
15: 102,160,986 (GRCm39) |
S18A |
possibly damaging |
Het |
Rfx4 |
T |
A |
10: 84,680,164 (GRCm39) |
S114T |
possibly damaging |
Het |
Sec14l4 |
G |
A |
11: 3,993,375 (GRCm39) |
|
probably null |
Het |
Six1 |
T |
G |
12: 73,092,708 (GRCm39) |
T165P |
probably benign |
Het |
Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
Slc25a23 |
T |
A |
17: 57,359,740 (GRCm39) |
Y337F |
probably damaging |
Het |
Slc9a3 |
A |
G |
13: 74,312,284 (GRCm39) |
Y627C |
probably damaging |
Het |
Smu1 |
A |
C |
4: 40,737,401 (GRCm39) |
|
probably null |
Het |
Spryd3 |
A |
G |
15: 102,038,799 (GRCm39) |
S141P |
probably damaging |
Het |
Src |
A |
T |
2: 157,304,958 (GRCm39) |
N175I |
probably damaging |
Het |
Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,157,482 (GRCm39) |
|
probably benign |
Het |
Stc2 |
A |
G |
11: 31,315,326 (GRCm39) |
|
probably null |
Het |
Taf6l |
T |
C |
19: 8,755,572 (GRCm39) |
D261G |
probably damaging |
Het |
Tal1 |
T |
G |
4: 114,921,919 (GRCm39) |
V167G |
probably damaging |
Het |
Tfec |
G |
A |
6: 16,834,124 (GRCm39) |
T261I |
probably damaging |
Het |
Tgfb1 |
G |
T |
7: 25,396,655 (GRCm39) |
S273I |
possibly damaging |
Het |
Tmem8b |
T |
A |
4: 43,685,760 (GRCm39) |
V636E |
probably damaging |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,946,380 (GRCm39) |
M1084K |
probably damaging |
Het |
Trem3 |
A |
C |
17: 48,556,639 (GRCm39) |
T37P |
possibly damaging |
Het |
Ttc7b |
G |
A |
12: 100,466,376 (GRCm39) |
R79C |
probably damaging |
Het |
Urb1 |
T |
C |
16: 90,585,034 (GRCm39) |
D529G |
probably benign |
Het |
Vmn2r8 |
T |
A |
5: 108,949,570 (GRCm39) |
T426S |
probably benign |
Het |
Yipf4 |
T |
C |
17: 74,806,089 (GRCm39) |
Y243H |
probably benign |
Het |
Zfp574 |
T |
A |
7: 24,780,738 (GRCm39) |
C587S |
probably damaging |
Het |
Zfp93 |
C |
A |
7: 23,975,093 (GRCm39) |
H359Q |
probably damaging |
Het |
Znfx1 |
T |
C |
2: 166,892,236 (GRCm39) |
E660G |
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 |
|
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 |
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'- CACAAGCCACATTTGATAGGAGC -3'
(R):5'- AGCCTTGTGACTGTGAGTTC -3'
Sequencing Primer
(F):5'- AAGAGTGCTCCCCTAGAGTG -3'
(R):5'- ACTGTGAGTTCTTGTTATTAGCCTAC -3'
|
Posted On |
2015-09-24 |