Incidental Mutation 'R8261:Fer1l6'
ID |
639949 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
MMRRC Submission |
067686-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R8261 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58432345 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 297
(N297K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
AlphaFold |
E0CZ42 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000161028
AA Change: N297K
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000125718 Gene: ENSMUSG00000037106 AA Change: N297K
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 |
0.1712 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (76/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,888,425 (GRCm39) |
E5G |
probably benign |
Het |
Adam23 |
T |
C |
1: 63,567,957 (GRCm39) |
V202A |
noncoding transcript |
Het |
Adamtsl1 |
A |
C |
4: 86,195,120 (GRCm39) |
E512D |
probably damaging |
Het |
Ahnak |
A |
T |
19: 8,982,817 (GRCm39) |
D1367V |
probably damaging |
Het |
Angpt4 |
A |
T |
2: 151,769,084 (GRCm39) |
Q198L |
probably benign |
Het |
Apcdd1 |
T |
A |
18: 63,066,974 (GRCm39) |
H29Q |
possibly damaging |
Het |
Cdh16 |
T |
A |
8: 105,341,811 (GRCm39) |
K755* |
probably null |
Het |
Cdk6 |
T |
G |
5: 3,440,685 (GRCm39) |
F80V |
probably benign |
Het |
Chd1 |
T |
C |
17: 17,607,804 (GRCm39) |
S451P |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,799,002 (GRCm39) |
L2361P |
probably damaging |
Het |
Chst8 |
A |
G |
7: 34,447,579 (GRCm39) |
M13T |
possibly damaging |
Het |
Cntnap2 |
T |
C |
6: 47,072,627 (GRCm39) |
L1065P |
probably damaging |
Het |
Dctn4 |
T |
C |
18: 60,659,343 (GRCm39) |
V14A |
possibly damaging |
Het |
Dicer1 |
A |
T |
12: 104,657,865 (GRCm39) |
V1903D |
probably damaging |
Het |
E2f2 |
A |
G |
4: 135,911,791 (GRCm39) |
|
silent |
Het |
Eif4g3 |
T |
A |
4: 137,898,429 (GRCm39) |
S902T |
possibly damaging |
Het |
Emid1 |
G |
T |
11: 5,084,353 (GRCm39) |
A152D |
probably benign |
Het |
Fes |
T |
C |
7: 80,032,902 (GRCm39) |
D281G |
probably null |
Het |
Frmpd2 |
T |
C |
14: 33,224,934 (GRCm39) |
V133A |
probably benign |
Het |
Fry |
A |
G |
5: 150,369,372 (GRCm39) |
Y2282C |
probably damaging |
Het |
Gm10377 |
C |
T |
14: 42,616,664 (GRCm39) |
|
probably null |
Het |
Gm1527 |
A |
G |
3: 28,974,749 (GRCm39) |
T521A |
probably damaging |
Het |
Gpr141 |
T |
A |
13: 19,936,013 (GRCm39) |
H254L |
probably benign |
Het |
Gpr160 |
A |
G |
3: 30,950,096 (GRCm39) |
E56G |
probably benign |
Het |
Grid2ip |
T |
G |
5: 143,367,695 (GRCm39) |
|
probably null |
Het |
Grin2a |
A |
G |
16: 9,481,382 (GRCm39) |
F473S |
probably damaging |
Het |
Igkv1-131 |
T |
C |
6: 67,743,102 (GRCm39) |
T94A |
probably damaging |
Het |
Inava |
T |
A |
1: 136,153,215 (GRCm39) |
N226Y |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,772,078 (GRCm39) |
L1367P |
probably damaging |
Het |
Kdm5d |
T |
A |
Y: 936,929 (GRCm39) |
M856K |
probably damaging |
Het |
Kirrel1 |
T |
C |
3: 86,995,309 (GRCm39) |
|
probably benign |
Het |
Lad1 |
T |
C |
1: 135,755,500 (GRCm39) |
S259P |
probably damaging |
Het |
Lalba |
A |
T |
15: 98,379,992 (GRCm39) |
F86Y |
possibly damaging |
Het |
Lrfn5 |
G |
A |
12: 61,886,323 (GRCm39) |
C37Y |
probably damaging |
Het |
Man2c1 |
A |
G |
9: 57,046,942 (GRCm39) |
T665A |
probably benign |
Het |
Ms4a20 |
T |
A |
19: 11,087,707 (GRCm39) |
S75C |
probably damaging |
Het |
Myh11 |
T |
C |
16: 14,041,867 (GRCm39) |
I719V |
|
Het |
Nbl1 |
A |
T |
4: 138,812,832 (GRCm39) |
C34S |
probably damaging |
Het |
Ncapg |
T |
A |
5: 45,844,730 (GRCm39) |
I575N |
possibly damaging |
Het |
Nlgn1 |
T |
C |
3: 25,487,816 (GRCm39) |
T840A |
possibly damaging |
Het |
Nrdc |
T |
C |
4: 108,873,876 (GRCm39) |
S231P |
possibly damaging |
Het |
Nrg2 |
T |
C |
18: 36,165,428 (GRCm39) |
K395E |
probably benign |
Het |
Nrip1 |
A |
T |
16: 76,088,949 (GRCm39) |
N869K |
possibly damaging |
Het |
Or2a14 |
T |
A |
6: 43,130,242 (GRCm39) |
M1K |
probably null |
Het |
Or4c12 |
A |
G |
2: 89,773,716 (GRCm39) |
F248L |
probably benign |
Het |
Or8s16 |
A |
T |
15: 98,210,546 (GRCm39) |
M295K |
probably benign |
Het |
Otub2 |
G |
T |
12: 103,369,161 (GRCm39) |
|
probably null |
Het |
Paxbp1 |
T |
C |
16: 90,834,303 (GRCm39) |
D161G |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,715,412 (GRCm39) |
G1946E |
probably damaging |
Het |
Per2 |
T |
A |
1: 91,361,170 (GRCm39) |
Q495L |
possibly damaging |
Het |
Plxna2 |
T |
A |
1: 194,431,724 (GRCm39) |
V571E |
probably damaging |
Het |
Prr7 |
C |
A |
13: 55,620,735 (GRCm39) |
P248T |
possibly damaging |
Het |
Ptprr |
A |
T |
10: 116,073,169 (GRCm39) |
T464S |
possibly damaging |
Het |
Rapgef2 |
A |
G |
3: 78,993,325 (GRCm39) |
V721A |
probably benign |
Het |
Rfx1 |
A |
T |
8: 84,819,479 (GRCm39) |
Y625F |
probably benign |
Het |
Rps6kb2 |
G |
T |
19: 4,211,195 (GRCm39) |
A110D |
possibly damaging |
Het |
Setdb2 |
A |
T |
14: 59,651,141 (GRCm39) |
|
probably benign |
Het |
Slc25a31 |
T |
C |
3: 40,679,351 (GRCm39) |
I272T |
probably damaging |
Het |
Smpd1 |
T |
C |
7: 105,204,520 (GRCm39) |
V133A |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,925,777 (GRCm39) |
D1185G |
probably damaging |
Het |
Spag6 |
T |
A |
2: 18,750,301 (GRCm39) |
L449H |
probably benign |
Het |
Sptb |
C |
A |
12: 76,668,036 (GRCm39) |
R687L |
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,877,616 (GRCm39) |
V1012E |
noncoding transcript |
Het |
Tmem192 |
A |
G |
8: 65,416,972 (GRCm39) |
I188V |
probably benign |
Het |
Tmem253 |
G |
A |
14: 52,256,708 (GRCm39) |
V194M |
probably benign |
Het |
Tph1 |
A |
G |
7: 46,303,173 (GRCm39) |
|
silent |
Het |
Trak1 |
A |
G |
9: 121,280,733 (GRCm39) |
E374G |
probably damaging |
Het |
Trpv1 |
A |
T |
11: 73,145,593 (GRCm39) |
|
probably null |
Het |
Trub2 |
T |
C |
2: 29,667,725 (GRCm39) |
H305R |
probably benign |
Het |
Ttn |
A |
G |
2: 76,747,768 (GRCm39) |
V4427A |
probably benign |
Het |
Vasn |
A |
G |
16: 4,466,160 (GRCm39) |
T36A |
probably damaging |
Het |
Vmn1r8 |
A |
T |
6: 57,013,158 (GRCm39) |
I70F |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,862,262 (GRCm39) |
I2960L |
probably damaging |
Het |
Zdhhc4 |
C |
A |
5: 143,307,588 (GRCm39) |
M144I |
probably benign |
Het |
Zfp273 |
T |
A |
13: 67,974,070 (GRCm39) |
N399K |
probably benign |
Het |
Zfp976 |
T |
A |
7: 42,262,125 (GRCm39) |
T572S |
unknown |
Het |
Zmym4 |
A |
G |
4: 126,798,360 (GRCm39) |
C756R |
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 |
|
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 |
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'- CATCTAGGCCAGCAGTCATG -3'
(R):5'- TTGAGACCTACTTCTGAGTCAGAC -3'
Sequencing Primer
(F):5'- CTAGGCCAGCAGTCATGTTAATAGAC -3'
(R):5'- TTCTGAGTCAGACACACAAAACTCTC -3'
|
Posted On |
2020-07-28 |