Incidental Mutation 'R7226:Fer1l6'
| ID |
562184 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1 like family member 6 |
| Synonyms |
EG631797 |
| MMRRC Submission |
045298-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 58462384 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 813
(T813I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161028
AA Change: T813I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: T813I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025B11Rik |
C |
T |
15: 77,443,189 (GRCm39) |
V17I |
unknown |
Het |
| Acad8 |
T |
A |
9: 26,889,726 (GRCm39) |
K323* |
probably null |
Het |
| Adam18 |
A |
T |
8: 25,137,824 (GRCm39) |
C339S |
probably damaging |
Het |
| Anxa7 |
A |
G |
14: 20,510,263 (GRCm39) |
F396L |
probably damaging |
Het |
| Ap2m1 |
T |
A |
16: 20,358,201 (GRCm39) |
V73D |
probably damaging |
Het |
| Asic2 |
A |
T |
11: 80,862,340 (GRCm39) |
I270N |
probably damaging |
Het |
| Atrn |
T |
G |
2: 130,828,664 (GRCm39) |
C1070G |
probably damaging |
Het |
| Bag6 |
A |
G |
17: 35,361,921 (GRCm39) |
N517S |
unknown |
Het |
| Bhmt1b |
A |
G |
18: 87,775,590 (GRCm39) |
D371G |
possibly damaging |
Het |
| Bltp3b |
A |
T |
10: 89,644,503 (GRCm39) |
Q1181L |
probably benign |
Het |
| Cavin1 |
A |
C |
11: 100,861,284 (GRCm39) |
D3E |
probably benign |
Het |
| Cc2d2b |
T |
C |
19: 40,779,751 (GRCm39) |
L571P |
unknown |
Het |
| Ccbe1 |
A |
T |
18: 66,216,199 (GRCm39) |
C175S |
probably damaging |
Het |
| Cd19 |
A |
G |
7: 126,013,995 (GRCm39) |
L5P |
unknown |
Het |
| Cd46 |
A |
G |
1: 194,724,314 (GRCm39) |
S362P |
possibly damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,863 (GRCm39) |
S198P |
probably damaging |
Het |
| Cep170b |
A |
G |
12: 112,704,359 (GRCm39) |
R706G |
possibly damaging |
Het |
| Chd3 |
G |
T |
11: 69,260,037 (GRCm39) |
R61S |
unknown |
Het |
| Cpsf6 |
A |
C |
10: 117,197,727 (GRCm39) |
W253G |
unknown |
Het |
| Cyp27a1 |
G |
A |
1: 74,776,507 (GRCm39) |
G481D |
probably damaging |
Het |
| Ddr1 |
C |
T |
17: 36,002,039 (GRCm39) |
D218N |
possibly damaging |
Het |
| Dhx34 |
A |
T |
7: 15,932,801 (GRCm39) |
V1046D |
probably damaging |
Het |
| Dhx9 |
A |
T |
1: 153,341,423 (GRCm39) |
D608E |
probably benign |
Het |
| Dnajc6 |
C |
A |
4: 101,496,569 (GRCm39) |
A912E |
probably damaging |
Het |
| Ehmt1 |
T |
C |
2: 24,694,794 (GRCm39) |
D1051G |
probably damaging |
Het |
| Fam217b |
C |
A |
2: 178,062,996 (GRCm39) |
A320E |
probably benign |
Het |
| Farsa |
T |
A |
8: 85,590,689 (GRCm39) |
I169N |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,170,142 (GRCm39) |
C2210R |
probably damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,880,642 (GRCm39) |
S251T |
probably benign |
Het |
| Ftl1-ps1 |
A |
T |
13: 74,555,114 (GRCm39) |
E131V |
probably damaging |
Het |
| Gins3 |
T |
A |
8: 96,364,499 (GRCm39) |
I83N |
probably damaging |
Het |
| Gja3 |
T |
C |
14: 57,273,350 (GRCm39) |
T341A |
probably benign |
Het |
| Gja5 |
A |
G |
3: 96,958,174 (GRCm39) |
Y77C |
probably damaging |
Het |
| Gm7247 |
A |
G |
14: 51,602,808 (GRCm39) |
K48R |
probably damaging |
Het |
| Gsx2 |
C |
A |
5: 75,236,621 (GRCm39) |
S67* |
probably null |
Het |
| H2-Q5 |
T |
A |
17: 35,616,089 (GRCm39) |
L217Q |
|
Het |
| Impg2 |
T |
A |
16: 56,087,467 (GRCm39) |
C1095* |
probably null |
Het |
| Itga7 |
G |
T |
10: 128,776,801 (GRCm39) |
W222L |
probably damaging |
Het |
| Kdm2b |
T |
A |
5: 123,059,512 (GRCm39) |
D530V |
possibly damaging |
Het |
| Klhdc8a |
A |
T |
1: 132,230,344 (GRCm39) |
D153V |
probably damaging |
Het |
| Lin28a |
C |
T |
4: 133,733,619 (GRCm39) |
G143S |
probably damaging |
Het |
| Memo1 |
A |
G |
17: 74,509,338 (GRCm39) |
L227S |
probably damaging |
Het |
| Mettl27 |
T |
A |
5: 134,964,657 (GRCm39) |
V138E |
probably damaging |
Het |
| Mov10 |
G |
T |
3: 104,708,328 (GRCm39) |
L474I |
probably damaging |
Het |
| Nat10 |
T |
C |
2: 103,557,098 (GRCm39) |
N852S |
probably benign |
Het |
| Nfkbie |
T |
C |
17: 45,870,153 (GRCm39) |
V166A |
possibly damaging |
Het |
| Nktr |
T |
C |
9: 121,575,599 (GRCm39) |
M369T |
probably damaging |
Het |
| Nlrp9a |
A |
T |
7: 26,258,149 (GRCm39) |
N589I |
probably benign |
Het |
| Nrn1 |
G |
A |
13: 36,914,577 (GRCm39) |
R8C |
probably benign |
Het |
| Nrsn1 |
A |
G |
13: 25,437,451 (GRCm39) |
I159T |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,503 (GRCm39) |
S217P |
possibly damaging |
Het |
| Or2h15 |
C |
T |
17: 38,441,324 (GRCm39) |
G253D |
probably benign |
Het |
| Or5p61 |
A |
T |
7: 107,758,164 (GRCm39) |
D305E |
probably benign |
Het |
| Or6c88 |
G |
A |
10: 129,406,584 (GRCm39) |
G20D |
probably benign |
Het |
| Osbp |
T |
A |
19: 11,956,031 (GRCm39) |
D385E |
probably benign |
Het |
| Pan3 |
T |
A |
5: 147,463,802 (GRCm39) |
N547K |
probably damaging |
Het |
| Pip4p2 |
T |
A |
4: 14,892,464 (GRCm39) |
D109E |
probably damaging |
Het |
| Pum1 |
C |
A |
4: 130,499,292 (GRCm39) |
T1036K |
probably damaging |
Het |
| Rad54l2 |
C |
A |
9: 106,590,671 (GRCm39) |
R485L |
probably damaging |
Het |
| Rps26 |
A |
T |
10: 128,461,087 (GRCm39) |
F101I |
unknown |
Het |
| Sdsl |
T |
C |
5: 120,598,702 (GRCm39) |
N138S |
probably benign |
Het |
| Slc28a2b |
C |
A |
2: 122,353,013 (GRCm39) |
R453S |
probably benign |
Het |
| Slc39a6 |
A |
T |
18: 24,717,084 (GRCm39) |
H649Q |
probably damaging |
Het |
| Snip1 |
T |
A |
4: 124,965,273 (GRCm39) |
F226Y |
probably benign |
Het |
| Srrd |
T |
C |
5: 112,485,322 (GRCm39) |
T334A |
unknown |
Het |
| St14 |
C |
T |
9: 31,011,448 (GRCm39) |
D448N |
possibly damaging |
Het |
| Tmem270 |
T |
A |
5: 134,930,538 (GRCm39) |
Q241L |
probably benign |
Het |
| Tubb4b |
T |
C |
2: 25,114,180 (GRCm39) |
D41G |
probably benign |
Het |
| Usf3 |
T |
C |
16: 44,040,368 (GRCm39) |
M1616T |
possibly damaging |
Het |
| Vmn2r95 |
A |
T |
17: 18,672,245 (GRCm39) |
I733F |
possibly damaging |
Het |
| Zfp976 |
A |
T |
7: 42,262,684 (GRCm39) |
C385* |
probably null |
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 |
|
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'- CTCAGAATAGGGTCCATGTTTGC -3'
(R):5'- CTGTTTGGAAGAGAGGACACTTG -3'
Sequencing Primer
(F):5'- GCTTTCTGGTGATAAAAGAGTCTTCC -3'
(R):5'- GACACTTGGCAATTGTCCTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation