Incidental Mutation 'R7607:Fer1l6'
| ID |
588401 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1 like family member 6 |
| Synonyms |
EG631797 |
| MMRRC Submission |
045677-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 58534581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Stop codon
at position 1809
(W1809*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000161028
AA Change: W1809*
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: W1809*
| 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 |
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610010K14Rik |
A |
T |
11: 70,128,383 (GRCm39) |
H30Q |
probably damaging |
Het |
| A930009A15Rik |
G |
A |
10: 115,417,894 (GRCm39) |
|
probably null |
Het |
| Abca7 |
T |
C |
10: 79,847,667 (GRCm39) |
L1779P |
probably damaging |
Het |
| Aff1 |
G |
A |
5: 103,997,325 (GRCm39) |
V1140I |
possibly damaging |
Het |
| Ano2 |
C |
T |
6: 125,689,382 (GRCm39) |
A169V |
probably damaging |
Het |
| Atat1 |
T |
C |
17: 36,219,999 (GRCm39) |
Y101C |
possibly damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,683,255 (GRCm39) |
|
probably null |
Het |
| Atp7b |
T |
G |
8: 22,501,522 (GRCm39) |
K912T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,548,246 (GRCm39) |
V112A |
possibly damaging |
Het |
| Cfap107 |
T |
A |
4: 144,146,332 (GRCm39) |
H107L |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,926,201 (GRCm39) |
N1119S |
probably benign |
Het |
| Csmd1 |
G |
T |
8: 15,968,331 (GRCm39) |
Q3099K |
possibly damaging |
Het |
| Cyp3a25 |
A |
G |
5: 145,921,791 (GRCm39) |
V381A |
possibly damaging |
Het |
| Dctn1 |
C |
T |
6: 83,172,051 (GRCm39) |
R948* |
probably null |
Het |
| Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,449 (GRCm39) |
V78A |
probably damaging |
Het |
| Evc2 |
A |
G |
5: 37,544,200 (GRCm39) |
T650A |
possibly damaging |
Het |
| Exoc6b |
T |
A |
6: 84,966,391 (GRCm39) |
K194N |
possibly damaging |
Het |
| Frmd4a |
T |
A |
2: 4,596,747 (GRCm39) |
L156* |
probably null |
Het |
| Gk5 |
A |
T |
9: 96,035,263 (GRCm39) |
|
probably null |
Het |
| Gm3573 |
A |
G |
14: 42,011,707 (GRCm39) |
F8L |
probably benign |
Het |
| Gm9767 |
G |
A |
10: 25,954,838 (GRCm39) |
C130Y |
unknown |
Het |
| Grip2 |
T |
C |
6: 91,765,393 (GRCm39) |
T30A |
probably benign |
Het |
| Gskip |
C |
A |
12: 105,665,156 (GRCm39) |
A65E |
possibly damaging |
Het |
| Gtf2e2 |
A |
G |
8: 34,266,493 (GRCm39) |
R259G |
probably benign |
Het |
| Gucy1b2 |
T |
A |
14: 62,656,626 (GRCm39) |
I244F |
probably damaging |
Het |
| Gxylt2 |
G |
T |
6: 100,775,151 (GRCm39) |
V357L |
possibly damaging |
Het |
| Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
| Igdcc4 |
C |
T |
9: 65,041,040 (GRCm39) |
P1024S |
possibly damaging |
Het |
| Ino80 |
A |
T |
2: 119,212,750 (GRCm39) |
|
probably null |
Het |
| Knl1 |
T |
C |
2: 118,925,614 (GRCm39) |
F1881S |
possibly damaging |
Het |
| Mbd6 |
T |
C |
10: 127,121,099 (GRCm39) |
E518G |
unknown |
Het |
| Mlh1 |
A |
G |
9: 111,058,958 (GRCm39) |
S689P |
probably damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,120,897 (GRCm39) |
I589T |
possibly damaging |
Het |
| Mtmr12 |
C |
T |
15: 12,257,794 (GRCm39) |
Q291* |
probably null |
Het |
| Mup8 |
T |
A |
4: 60,222,035 (GRCm39) |
I33F |
probably benign |
Het |
| Mylk |
C |
T |
16: 34,715,184 (GRCm39) |
P504L |
probably benign |
Het |
| Ntrk3 |
C |
T |
7: 77,900,621 (GRCm39) |
A573T |
probably benign |
Het |
| Obscn |
G |
T |
11: 58,889,091 (GRCm39) |
S7560R |
unknown |
Het |
| Or1m1 |
A |
G |
9: 18,666,178 (GRCm39) |
F251S |
possibly damaging |
Het |
| Or52z12 |
A |
C |
7: 103,234,137 (GRCm39) |
T303P |
probably damaging |
Het |
| Pde1c |
T |
C |
6: 56,127,613 (GRCm39) |
T391A |
probably damaging |
Het |
| Pla2g4d |
T |
A |
2: 120,119,457 (GRCm39) |
H19L |
probably benign |
Het |
| Plce1 |
C |
A |
19: 38,513,196 (GRCm39) |
A165E |
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,890,005 (GRCm39) |
S75P |
probably benign |
Het |
| Psg21 |
T |
C |
7: 18,388,708 (GRCm39) |
E128G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,492,368 (GRCm39) |
I420T |
probably damaging |
Het |
| Radil |
A |
T |
5: 142,480,550 (GRCm39) |
M635K |
probably damaging |
Het |
| Rnase11 |
G |
A |
14: 51,287,029 (GRCm39) |
T175I |
probably damaging |
Het |
| Robo1 |
C |
T |
16: 72,360,626 (GRCm39) |
P13S |
|
Het |
| Slc18a2 |
C |
A |
19: 59,272,790 (GRCm39) |
A364D |
probably benign |
Het |
| Snph |
C |
T |
2: 151,436,506 (GRCm39) |
D141N |
probably damaging |
Het |
| Snrnp70 |
T |
C |
7: 45,041,688 (GRCm39) |
K70R |
possibly damaging |
Het |
| Snx33 |
T |
C |
9: 56,833,997 (GRCm39) |
D24G |
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,736,773 (GRCm39) |
D165E |
possibly damaging |
Het |
| Spata31 |
T |
G |
13: 65,069,406 (GRCm39) |
L518R |
probably damaging |
Het |
| Spata31e3 |
T |
C |
13: 50,404,296 (GRCm39) |
E2G |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,466,661 (GRCm39) |
V4059M |
probably damaging |
Het |
| St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
| Stoml1 |
A |
G |
9: 58,163,941 (GRCm39) |
R87G |
probably damaging |
Het |
| Suv39h2 |
T |
C |
2: 3,475,866 (GRCm39) |
T40A |
unknown |
Het |
| Terb2 |
G |
T |
2: 122,016,956 (GRCm39) |
G26W |
probably damaging |
Het |
| Tmem62 |
T |
C |
2: 120,826,921 (GRCm39) |
I406T |
probably benign |
Het |
| Tnfrsf11a |
G |
A |
1: 105,772,458 (GRCm39) |
V582I |
probably benign |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,576,817 (GRCm39) |
D1480G |
probably damaging |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn1r48 |
C |
A |
6: 90,012,962 (GRCm39) |
V288L |
probably benign |
Het |
| Vmn2r13 |
A |
G |
5: 109,321,506 (GRCm39) |
V397A |
probably damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,287,570 (GRCm39) |
N468D |
possibly damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,303,688 (GRCm39) |
T1432K |
possibly damaging |
Het |
| Zswim5 |
T |
A |
4: 116,843,939 (GRCm39) |
D992E |
possibly 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 |
|
|
R4581:Fer1l6
|
UTSW |
15 |
58,512,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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'- CACTTCTGTTGCTCTCAGGG -3'
(R):5'- TCGCAGCACATGATCTTAGAGG -3'
Sequencing Primer
(F):5'- CTGTTGCTCTCAGGGGAATATTC -3'
(R):5'- TCTTAGAGGGCCCTGTATAGAAC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation