Incidental Mutation 'R4581:Fer1l6'
| ID |
343701 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1-like 6 (C. elegans) |
| Synonyms |
EG631797 |
| MMRRC Submission |
041802-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R4581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58510048-58665092 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58640226 bp (GRCm38)
|
| 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: 32,661,871 (GRCm38) |
S712R |
possibly damaging |
Het |
| 4933427I04Rik |
A |
G |
4: 123,860,353 (GRCm38) |
D20G |
possibly damaging |
Het |
| Abca7 |
A |
G |
10: 80,006,568 (GRCm38) |
D1112G |
probably benign |
Het |
| Actc1 |
G |
T |
2: 114,049,608 (GRCm38) |
H175N |
possibly damaging |
Het |
| Adgrd1 |
C |
T |
5: 129,202,531 (GRCm38) |
A863V |
possibly damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,283,120 (GRCm38) |
D935G |
possibly damaging |
Het |
| Ankrd7 |
T |
A |
6: 18,868,021 (GRCm38) |
N95K |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,732,124 (GRCm38) |
E1171K |
possibly damaging |
Het |
| Ascc3 |
T |
C |
10: 50,711,025 (GRCm38) |
I991T |
probably damaging |
Het |
| Cacna1s |
T |
A |
1: 136,070,970 (GRCm38) |
|
probably null |
Het |
| Camk1d |
A |
T |
2: 5,354,704 (GRCm38) |
V177E |
probably benign |
Het |
| Cdh18 |
T |
A |
15: 23,226,783 (GRCm38) |
I110N |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 135,247,000 (GRCm38) |
K1484E |
probably benign |
Het |
| Cep68 |
A |
G |
11: 20,239,333 (GRCm38) |
S560P |
probably benign |
Het |
| Cog3 |
G |
T |
14: 75,732,951 (GRCm38) |
T352K |
probably benign |
Het |
| Cox6a2 |
A |
G |
7: 128,205,980 (GRCm38) |
S44P |
possibly damaging |
Het |
| Cplane1 |
C |
A |
15: 8,171,798 (GRCm38) |
P20T |
possibly damaging |
Het |
| Csmd2 |
T |
C |
4: 128,369,088 (GRCm38) |
V689A |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,023,261 (GRCm38) |
M1548L |
possibly damaging |
Het |
| Dennd5b |
G |
T |
6: 149,016,984 (GRCm38) |
|
silent |
Het |
| Dlgap2 |
T |
C |
8: 14,846,679 (GRCm38) |
Y1052H |
probably damaging |
Het |
| Dnaaf5 |
T |
A |
5: 139,184,685 (GRCm38) |
D502E |
probably damaging |
Het |
| Efhb |
C |
A |
17: 53,426,275 (GRCm38) |
A523S |
probably damaging |
Het |
| Epha8 |
C |
T |
4: 136,933,464 (GRCm38) |
V648M |
probably damaging |
Het |
| Fanca |
C |
T |
8: 123,274,338 (GRCm38) |
|
probably null |
Het |
| Fbxw7 |
G |
A |
3: 84,967,545 (GRCm38) |
E205K |
probably benign |
Het |
| Gm12886 |
T |
C |
4: 121,416,683 (GRCm38) |
E112G |
probably damaging |
Het |
| Gm7535 |
T |
C |
17: 17,911,083 (GRCm38) |
|
probably benign |
Het |
| Irf2bp2 |
T |
A |
8: 126,591,255 (GRCm38) |
Q524L |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,900,968 (GRCm38) |
D864G |
probably benign |
Het |
| Kdm4c |
T |
G |
4: 74,357,339 (GRCm38) |
|
probably null |
Het |
| Ltn1 |
A |
T |
16: 87,402,024 (GRCm38) |
|
probably null |
Het |
| Mafa |
G |
T |
15: 75,747,736 (GRCm38) |
P63T |
unknown |
Het |
| Mars2 |
T |
A |
1: 55,237,862 (GRCm38) |
L208H |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,106,459 (GRCm38) |
I769V |
probably benign |
Het |
| Nyap1 |
A |
G |
5: 137,736,022 (GRCm38) |
S250P |
probably damaging |
Het |
| Or8k35 |
A |
T |
2: 86,594,228 (GRCm38) |
M200K |
probably benign |
Het |
| Osmr |
C |
T |
15: 6,842,894 (GRCm38) |
V240I |
probably benign |
Het |
| Pcdhga3 |
A |
G |
18: 37,676,881 (GRCm38) |
T796A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,675,505 (GRCm38) |
V1459A |
unknown |
Het |
| Phactr3 |
A |
C |
2: 178,283,172 (GRCm38) |
H300P |
probably damaging |
Het |
| Pla2g4e |
T |
G |
2: 120,186,382 (GRCm38) |
H226P |
possibly damaging |
Het |
| Plcd4 |
T |
A |
1: 74,548,224 (GRCm38) |
W48R |
probably damaging |
Het |
| Prdm16 |
A |
G |
4: 154,323,353 (GRCm38) |
S1140P |
probably damaging |
Het |
| Rarg |
A |
C |
15: 102,252,551 (GRCm38) |
S18A |
possibly damaging |
Het |
| Rfx4 |
T |
A |
10: 84,844,300 (GRCm38) |
S114T |
possibly damaging |
Het |
| Sec14l4 |
G |
A |
11: 4,043,375 (GRCm38) |
|
probably null |
Het |
| Six1 |
T |
G |
12: 73,045,934 (GRCm38) |
T165P |
probably benign |
Het |
| Skint4 |
T |
C |
4: 112,087,042 (GRCm38) |
L17P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,052,740 (GRCm38) |
Y337F |
probably damaging |
Het |
| Slc9a3 |
A |
G |
13: 74,164,165 (GRCm38) |
Y627C |
probably damaging |
Het |
| Smu1 |
A |
C |
4: 40,737,401 (GRCm38) |
|
probably null |
Het |
| Spryd3 |
A |
G |
15: 102,130,364 (GRCm38) |
S141P |
probably damaging |
Het |
| Src |
A |
T |
2: 157,463,038 (GRCm38) |
N175I |
probably damaging |
Het |
| Srcap |
GCTCCTCCTCCTCCTCCT |
GCTCCTCCTCCTCCT |
7: 127,558,310 (GRCm38) |
|
probably benign |
Het |
| Stc2 |
A |
G |
11: 31,365,326 (GRCm38) |
|
probably null |
Het |
| Taf6l |
T |
C |
19: 8,778,208 (GRCm38) |
D261G |
probably damaging |
Het |
| Tal1 |
T |
G |
4: 115,064,722 (GRCm38) |
V167G |
probably damaging |
Het |
| Tfec |
G |
A |
6: 16,834,125 (GRCm38) |
T261I |
probably damaging |
Het |
| Tgfb1 |
G |
T |
7: 25,697,230 (GRCm38) |
S273I |
possibly damaging |
Het |
| Tmem8b |
T |
A |
4: 43,685,760 (GRCm38) |
V636E |
probably damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,493,345 (GRCm38) |
M1084K |
probably damaging |
Het |
| Trem3 |
A |
C |
17: 48,249,611 (GRCm38) |
T37P |
possibly damaging |
Het |
| Ttc7b |
G |
A |
12: 100,500,117 (GRCm38) |
R79C |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,788,146 (GRCm38) |
D529G |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,801,704 (GRCm38) |
T426S |
probably benign |
Het |
| Yipf4 |
T |
C |
17: 74,499,094 (GRCm38) |
Y243H |
probably benign |
Het |
| Zfp574 |
T |
A |
7: 25,081,313 (GRCm38) |
C587S |
probably damaging |
Het |
| Zfp93 |
C |
A |
7: 24,275,668 (GRCm38) |
H359Q |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 167,050,316 (GRCm38) |
E660G |
probably damaging |
Het |
|
| Other mutations in Fer1l6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0009:Fer1l6
|
UTSW |
15 |
58,662,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0141:Fer1l6
|
UTSW |
15 |
58,558,402 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0178:Fer1l6
|
UTSW |
15 |
58,637,914 (GRCm38) |
splice site |
probably null |
|
|
R0304:Fer1l6
|
UTSW |
15 |
58,590,562 (GRCm38) |
missense |
probably benign |
0.08 |
|
R0379:Fer1l6
|
UTSW |
15 |
58,548,338 (GRCm38) |
missense |
probably benign |
0.05 |
|
R0457:Fer1l6
|
UTSW |
15 |
58,638,094 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0546:Fer1l6
|
UTSW |
15 |
58,558,408 (GRCm38) |
splice site |
probably null |
|
|
R0602:Fer1l6
|
UTSW |
15 |
58,577,945 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R0619:Fer1l6
|
UTSW |
15 |
58,662,935 (GRCm38) |
splice site |
probably null |
|
|
R0669:Fer1l6
|
UTSW |
15 |
58,553,724 (GRCm38) |
splice site |
probably null |
|
|
R0854:Fer1l6
|
UTSW |
15 |
58,559,188 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0948:Fer1l6
|
UTSW |
15 |
58,564,075 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1180:Fer1l6
|
UTSW |
15 |
58,602,311 (GRCm38) |
splice site |
probably benign |
|
|
R1483:Fer1l6
|
UTSW |
15 |
58,637,970 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1627:Fer1l6
|
UTSW |
15 |
58,641,879 (GRCm38) |
missense |
probably benign |
0.41 |
|
R1635:Fer1l6
|
UTSW |
15 |
58,647,081 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1834:Fer1l6
|
UTSW |
15 |
58,557,869 (GRCm38) |
missense |
possibly damaging |
0.58 |
|
R1921:Fer1l6
|
UTSW |
15 |
58,625,231 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2000:Fer1l6
|
UTSW |
15 |
58,602,311 (GRCm38) |
splice site |
probably benign |
|
|
R2041:Fer1l6
|
UTSW |
15 |
58,558,306 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2144:Fer1l6
|
UTSW |
15 |
58,627,534 (GRCm38) |
missense |
probably benign |
|
|
R2145:Fer1l6
|
UTSW |
15 |
58,627,534 (GRCm38) |
missense |
probably benign |
|
|
R2981:Fer1l6
|
UTSW |
15 |
58,564,077 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4164:Fer1l6
|
UTSW |
15 |
58,559,238 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R4192:Fer1l6
|
UTSW |
15 |
58,647,149 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4273:Fer1l6
|
UTSW |
15 |
58,627,522 (GRCm38) |
missense |
probably benign |
0.41 |
|
R4573:Fer1l6
|
UTSW |
15 |
58,626,280 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4624:Fer1l6
|
UTSW |
15 |
58,553,705 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4755:Fer1l6
|
UTSW |
15 |
58,640,211 (GRCm38) |
missense |
probably benign |
0.09 |
|
R4774:Fer1l6
|
UTSW |
15 |
58,577,949 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4894:Fer1l6
|
UTSW |
15 |
58,618,902 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4896:Fer1l6
|
UTSW |
15 |
58,638,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4921:Fer1l6
|
UTSW |
15 |
58,600,311 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R4962:Fer1l6
|
UTSW |
15 |
58,571,401 (GRCm38) |
missense |
probably benign |
0.03 |
|
R5029:Fer1l6
|
UTSW |
15 |
58,643,920 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5134:Fer1l6
|
UTSW |
15 |
58,640,154 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5175:Fer1l6
|
UTSW |
15 |
58,550,277 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5227:Fer1l6
|
UTSW |
15 |
58,581,903 (GRCm38) |
nonsense |
probably null |
|
|
R5561:Fer1l6
|
UTSW |
15 |
58,660,825 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R5621:Fer1l6
|
UTSW |
15 |
58,558,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5670:Fer1l6
|
UTSW |
15 |
58,622,482 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5745:Fer1l6
|
UTSW |
15 |
58,571,389 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5807:Fer1l6
|
UTSW |
15 |
58,590,550 (GRCm38) |
nonsense |
probably null |
|
|
R5823:Fer1l6
|
UTSW |
15 |
58,590,503 (GRCm38) |
nonsense |
probably null |
|
|
R5892:Fer1l6
|
UTSW |
15 |
58,564,068 (GRCm38) |
missense |
probably benign |
|
|
R6006:Fer1l6
|
UTSW |
15 |
58,647,044 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6137:Fer1l6
|
UTSW |
15 |
58,559,206 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6195:Fer1l6
|
UTSW |
15 |
58,637,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6234:Fer1l6
|
UTSW |
15 |
58,560,639 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6237:Fer1l6
|
UTSW |
15 |
58,638,006 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6237:Fer1l6
|
UTSW |
15 |
58,625,177 (GRCm38) |
nonsense |
probably null |
|
|
R6271:Fer1l6
|
UTSW |
15 |
58,641,918 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6336:Fer1l6
|
UTSW |
15 |
58,559,232 (GRCm38) |
nonsense |
probably null |
|
|
R6784:Fer1l6
|
UTSW |
15 |
58,571,426 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R6852:Fer1l6
|
UTSW |
15 |
58,594,878 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7030:Fer1l6
|
UTSW |
15 |
58,629,378 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7088:Fer1l6
|
UTSW |
15 |
58,564,050 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R7181:Fer1l6
|
UTSW |
15 |
58,575,297 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7226:Fer1l6
|
UTSW |
15 |
58,590,535 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7266:Fer1l6
|
UTSW |
15 |
58,627,597 (GRCm38) |
missense |
probably benign |
|
|
R7463:Fer1l6
|
UTSW |
15 |
58,573,601 (GRCm38) |
nonsense |
probably null |
|
|
R7464:Fer1l6
|
UTSW |
15 |
58,573,247 (GRCm38) |
splice site |
probably null |
|
|
R7469:Fer1l6
|
UTSW |
15 |
58,590,570 (GRCm38) |
splice site |
probably null |
|
|
R7483:Fer1l6
|
UTSW |
15 |
58,641,945 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R7491:Fer1l6
|
UTSW |
15 |
58,600,432 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7534:Fer1l6
|
UTSW |
15 |
58,638,026 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7562:Fer1l6
|
UTSW |
15 |
58,560,482 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7580:Fer1l6
|
UTSW |
15 |
58,558,396 (GRCm38) |
missense |
probably benign |
0.41 |
|
R7599:Fer1l6
|
UTSW |
15 |
58,627,589 (GRCm38) |
missense |
probably benign |
|
|
R7607:Fer1l6
|
UTSW |
15 |
58,662,732 (GRCm38) |
nonsense |
probably null |
|
|
R7677:Fer1l6
|
UTSW |
15 |
58,602,290 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8202:Fer1l6
|
UTSW |
15 |
58,630,637 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8261:Fer1l6
|
UTSW |
15 |
58,560,496 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R8847:Fer1l6
|
UTSW |
15 |
58,542,163 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R9022:Fer1l6
|
UTSW |
15 |
58,583,480 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9030:Fer1l6
|
UTSW |
15 |
58,630,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9160:Fer1l6
|
UTSW |
15 |
58,643,866 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R9180:Fer1l6
|
UTSW |
15 |
58,622,381 (GRCm38) |
missense |
probably benign |
0.19 |
|
R9289:Fer1l6
|
UTSW |
15 |
58,618,917 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9559:Fer1l6
|
UTSW |
15 |
58,557,910 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R9562:Fer1l6
|
UTSW |
15 |
58,618,521 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9682:Fer1l6
|
UTSW |
15 |
58,550,264 (GRCm38) |
missense |
probably benign |
0.03 |
|
R9775:Fer1l6
|
UTSW |
15 |
58,625,249 (GRCm38) |
missense |
probably benign |
|
|
X0021:Fer1l6
|
UTSW |
15 |
58,569,202 (GRCm38) |
nonsense |
probably null |
|
|
X0027:Fer1l6
|
UTSW |
15 |
58,629,340 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0063:Fer1l6
|
UTSW |
15 |
58,618,574 (GRCm38) |
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 |
Incidental Mutation