Incidental Mutation 'R0546:Fer1l6'
| ID |
44870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1 like family member 6 |
| Synonyms |
EG631797 |
| MMRRC Submission |
038738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R0546 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 58430257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000161028
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
A |
G |
6: 23,077,076 (GRCm39) |
|
probably null |
Het |
| Actn1 |
C |
T |
12: 80,225,208 (GRCm39) |
R418Q |
probably benign |
Het |
| Adam39 |
G |
A |
8: 41,279,468 (GRCm39) |
V620M |
probably damaging |
Het |
| Agr3 |
C |
A |
12: 35,978,329 (GRCm39) |
T14K |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,439,788 (GRCm39) |
D1002G |
probably benign |
Het |
| Amz2 |
T |
A |
11: 109,324,780 (GRCm39) |
N221K |
probably benign |
Het |
| Aox4 |
A |
G |
1: 58,289,333 (GRCm39) |
E752G |
probably damaging |
Het |
| Ap2a1 |
C |
T |
7: 44,554,132 (GRCm39) |
G500S |
probably damaging |
Het |
| Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
| Ccdc112 |
A |
G |
18: 46,424,139 (GRCm39) |
S200P |
possibly damaging |
Het |
| Ccdc18 |
A |
T |
5: 108,322,830 (GRCm39) |
E643D |
probably benign |
Het |
| Ccdc180 |
A |
T |
4: 45,904,597 (GRCm39) |
T398S |
possibly damaging |
Het |
| Cnp |
A |
G |
11: 100,471,549 (GRCm39) |
Y397C |
probably damaging |
Het |
| Cpa4 |
T |
C |
6: 30,580,962 (GRCm39) |
W184R |
probably damaging |
Het |
| Crebbp |
A |
T |
16: 3,903,671 (GRCm39) |
I1856N |
probably damaging |
Het |
| Ctrl |
A |
G |
8: 106,658,966 (GRCm39) |
I200T |
probably damaging |
Het |
| Cyfip1 |
C |
T |
7: 55,572,564 (GRCm39) |
R934* |
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,520,633 (GRCm39) |
V408A |
probably benign |
Het |
| Dhfr |
G |
A |
13: 92,504,692 (GRCm39) |
|
probably null |
Het |
| Dnajc6 |
A |
T |
4: 101,492,388 (GRCm39) |
N740Y |
probably damaging |
Het |
| Fam110a |
T |
C |
2: 151,812,732 (GRCm39) |
T13A |
probably benign |
Het |
| Fars2 |
G |
T |
13: 36,388,569 (GRCm39) |
K19N |
probably benign |
Het |
| Gabra1 |
T |
A |
11: 42,053,428 (GRCm39) |
T69S |
probably damaging |
Het |
| Galnt18 |
T |
G |
7: 111,107,348 (GRCm39) |
N475T |
probably damaging |
Het |
| Gbp4 |
T |
C |
5: 105,268,836 (GRCm39) |
Y439C |
probably damaging |
Het |
| Gpatch2l |
A |
G |
12: 86,335,622 (GRCm39) |
*409W |
probably null |
Het |
| Hip1r |
T |
C |
5: 124,137,114 (GRCm39) |
V658A |
possibly damaging |
Het |
| Hspg2 |
A |
G |
4: 137,229,605 (GRCm39) |
D73G |
probably benign |
Het |
| Ifitm2 |
A |
G |
7: 140,535,656 (GRCm39) |
V58A |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,414,945 (GRCm39) |
D1359G |
probably benign |
Het |
| Ing1 |
A |
G |
8: 11,607,031 (GRCm39) |
D41G |
probably damaging |
Het |
| Itgal |
C |
T |
7: 126,909,486 (GRCm39) |
T446I |
probably benign |
Het |
| Itgav |
G |
T |
2: 83,633,586 (GRCm39) |
M978I |
probably benign |
Het |
| Jazf1 |
A |
G |
6: 52,754,681 (GRCm39) |
Y132H |
possibly damaging |
Het |
| Lgr4 |
T |
A |
2: 109,829,766 (GRCm39) |
N211K |
probably damaging |
Het |
| Mgat4d |
A |
G |
8: 84,082,350 (GRCm39) |
N100S |
possibly damaging |
Het |
| Mrgprb3 |
T |
C |
7: 48,293,263 (GRCm39) |
Y96C |
probably damaging |
Het |
| Myh11 |
A |
C |
16: 14,023,492 (GRCm39) |
L1562R |
probably damaging |
Het |
| Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,397,139 (GRCm39) |
Y2667C |
probably damaging |
Het |
| Or14j7 |
T |
A |
17: 38,235,229 (GRCm39) |
C257* |
probably null |
Het |
| Or52ae7 |
A |
G |
7: 103,119,907 (GRCm39) |
I220M |
possibly damaging |
Het |
| Or6c70 |
G |
A |
10: 129,710,407 (GRCm39) |
T73I |
possibly damaging |
Het |
| Or8k37 |
T |
A |
2: 86,469,573 (GRCm39) |
T160S |
possibly damaging |
Het |
| Or8k38 |
C |
T |
2: 86,488,235 (GRCm39) |
C189Y |
possibly damaging |
Het |
| Or9m2 |
T |
A |
2: 87,820,816 (GRCm39) |
Y120* |
probably null |
Het |
| Paox |
G |
T |
7: 139,711,591 (GRCm39) |
G148W |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,799,112 (GRCm39) |
V2777A |
probably benign |
Het |
| Plod2 |
T |
A |
9: 92,477,388 (GRCm39) |
V360E |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 16,998,030 (GRCm39) |
|
probably benign |
Het |
| Sbds |
G |
T |
5: 130,282,919 (GRCm39) |
A3D |
possibly damaging |
Het |
| Sec23a |
T |
C |
12: 59,031,953 (GRCm39) |
T426A |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,551,929 (GRCm39) |
Y148C |
probably damaging |
Het |
| Shprh |
T |
A |
10: 11,059,631 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
G |
10: 125,066,742 (GRCm39) |
V299A |
probably benign |
Het |
| Smg8 |
T |
C |
11: 86,974,439 (GRCm39) |
Y174C |
possibly damaging |
Het |
| Snx22 |
T |
A |
9: 65,976,059 (GRCm39) |
Y58F |
probably damaging |
Het |
| Snx25 |
A |
G |
8: 46,556,667 (GRCm39) |
Y308H |
probably benign |
Het |
| St3gal2 |
A |
G |
8: 111,696,738 (GRCm39) |
|
probably null |
Het |
| Stab1 |
C |
T |
14: 30,861,507 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Steap4 |
T |
C |
5: 8,025,870 (GRCm39) |
S144P |
probably damaging |
Het |
| Stfa3 |
T |
A |
16: 36,272,619 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
C |
A |
10: 80,735,157 (GRCm39) |
Q1095K |
probably benign |
Het |
| Top2a |
A |
G |
11: 98,890,052 (GRCm39) |
V1217A |
possibly damaging |
Het |
| Trhr2 |
A |
G |
8: 123,085,228 (GRCm39) |
|
probably null |
Het |
| Trim7 |
A |
G |
11: 48,736,336 (GRCm39) |
E23G |
probably damaging |
Het |
| Trpv3 |
A |
T |
11: 73,188,013 (GRCm39) |
E788V |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,575,863 (GRCm39) |
I25010T |
probably damaging |
Het |
| Ube2ql1 |
T |
C |
13: 69,887,419 (GRCm39) |
H14R |
unknown |
Het |
| Uggt1 |
C |
T |
1: 36,235,052 (GRCm39) |
R419H |
probably benign |
Het |
| Xpo4 |
A |
G |
14: 57,850,731 (GRCm39) |
V391A |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,520,819 (GRCm39) |
D647G |
probably damaging |
Het |
| Zfp354c |
A |
T |
11: 50,706,457 (GRCm39) |
M206K |
probably benign |
Het |
| Zfp804a |
A |
G |
2: 82,089,264 (GRCm39) |
N1031S |
possibly damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,882 (GRCm39) |
V151A |
probably benign |
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 |
|
|
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 |
|
|
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'- CCCAAATGCCTATGACCCATTGGAG -3'
(R):5'- AAGGTGCGTTCAGACATCCGACAG -3'
Sequencing Primer
(F):5'- CTGGGGATGTCTACAAATAGCTAC -3'
(R):5'- ATCCGACAGAGCTGAGTCTC -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation