Incidental Mutation 'R4894:Fer1l6'
| ID |
377517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fer1l6
|
| Ensembl Gene |
ENSMUSG00000037106 |
| Gene Name |
fer-1-like 6 (C. elegans) |
| Synonyms |
EG631797 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.100)
|
| Stock # |
R4894 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
58510048-58665092 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 58618902 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1023
(C1023R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125718
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000161028]
|
| AlphaFold |
E0CZ42 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161028
AA Change: C1023R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: C1023R
| 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: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
C |
A |
17: 43,299,084 (GRCm38) |
Y176* |
probably null |
Het |
| Akap13 |
T |
A |
7: 75,725,320 (GRCm38) |
M1900K |
possibly damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,635,332 (GRCm38) |
E381G |
probably damaging |
Het |
| Ap3s1 |
T |
C |
18: 46,758,116 (GRCm38) |
|
probably null |
Het |
| Cacna1e |
G |
T |
1: 154,488,805 (GRCm38) |
S341* |
probably null |
Het |
| Camk1d |
G |
A |
2: 5,354,728 (GRCm38) |
S161L |
probably damaging |
Het |
| Cdh23 |
G |
T |
10: 60,337,851 (GRCm38) |
H1619Q |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,838,629 (GRCm38) |
I1276N |
probably damaging |
Het |
| Clca1 |
A |
G |
3: 145,013,901 (GRCm38) |
V436A |
probably damaging |
Het |
| Ctcfl |
G |
A |
2: 173,117,403 (GRCm38) |
P177S |
probably benign |
Het |
| Dab2ip |
A |
G |
2: 35,730,527 (GRCm38) |
|
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,748,568 (GRCm38) |
D2585N |
probably benign |
Het |
| Epc1 |
A |
T |
18: 6,449,011 (GRCm38) |
S495R |
probably benign |
Het |
| Espl1 |
A |
G |
15: 102,322,323 (GRCm38) |
|
probably null |
Het |
| Eya4 |
T |
C |
10: 23,109,854 (GRCm38) |
E583G |
possibly damaging |
Het |
| Fam111a |
C |
G |
19: 12,588,549 (GRCm38) |
T554R |
probably benign |
Het |
| Fbh1 |
A |
T |
2: 11,762,960 (GRCm38) |
I359N |
probably damaging |
Het |
| Helz2 |
G |
C |
2: 181,236,147 (GRCm38) |
P953A |
probably benign |
Het |
| Ifi204 |
G |
T |
1: 173,760,242 (GRCm38) |
S117Y |
probably damaging |
Het |
| Ift70a1 |
T |
C |
2: 75,979,744 (GRCm38) |
*665W |
probably null |
Het |
| Igfn1 |
G |
A |
1: 135,954,782 (GRCm38) |
T2775M |
probably damaging |
Het |
| Igsf9 |
A |
G |
1: 172,498,067 (GRCm38) |
T1101A |
probably benign |
Het |
| Ipo13 |
A |
C |
4: 117,903,441 (GRCm38) |
I614S |
probably damaging |
Het |
| Ipo13 |
A |
G |
4: 117,904,490 (GRCm38) |
I476T |
possibly damaging |
Het |
| Kdm2b |
C |
A |
5: 122,940,967 (GRCm38) |
E308* |
probably null |
Het |
| Klhl20 |
A |
T |
1: 161,109,532 (GRCm38) |
M91K |
possibly damaging |
Het |
| Klrb1f |
T |
C |
6: 129,053,188 (GRCm38) |
F64L |
probably benign |
Het |
| Ldlrad3 |
C |
T |
2: 102,057,948 (GRCm38) |
C106Y |
probably damaging |
Het |
| Lilra6 |
T |
C |
7: 3,912,531 (GRCm38) |
T161A |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,161,752 (GRCm38) |
M1334K |
possibly damaging |
Het |
| Mepe |
C |
G |
5: 104,325,402 (GRCm38) |
P3R |
probably damaging |
Het |
| Mgat4e |
A |
G |
1: 134,541,118 (GRCm38) |
V396A |
probably benign |
Het |
| Nfx1 |
T |
G |
4: 40,996,877 (GRCm38) |
S651A |
probably damaging |
Het |
| Or10ak13 |
A |
T |
4: 118,782,286 (GRCm38) |
C100S |
probably damaging |
Het |
| Or2w6 |
T |
C |
13: 21,659,182 (GRCm38) |
N47S |
probably damaging |
Het |
| Or4c109 |
T |
C |
2: 88,987,439 (GRCm38) |
I254M |
possibly damaging |
Het |
| Rag2 |
T |
C |
2: 101,629,677 (GRCm38) |
S111P |
probably damaging |
Het |
| Rai1 |
T |
A |
11: 60,186,746 (GRCm38) |
D545E |
probably damaging |
Het |
| Ralgps1 |
A |
G |
2: 33,143,103 (GRCm38) |
V498A |
possibly damaging |
Het |
| Rasal2 |
G |
A |
1: 157,192,804 (GRCm38) |
S205L |
probably damaging |
Het |
| Rec8 |
T |
C |
14: 55,625,330 (GRCm38) |
L582P |
probably damaging |
Het |
| Retn |
G |
A |
8: 3,657,358 (GRCm38) |
R106H |
probably damaging |
Het |
| Rnf112 |
A |
G |
11: 61,452,662 (GRCm38) |
L116P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,481,240 (GRCm38) |
Y4885H |
probably damaging |
Het |
| Sacm1l |
A |
G |
9: 123,582,344 (GRCm38) |
I399M |
probably benign |
Het |
| Sez6 |
G |
T |
11: 77,975,260 (GRCm38) |
G738V |
probably damaging |
Het |
| Spata17 |
A |
G |
1: 187,140,446 (GRCm38) |
V56A |
probably benign |
Het |
| Spata31d1a |
A |
T |
13: 59,701,728 (GRCm38) |
V862D |
probably damaging |
Het |
| Sptb |
A |
G |
12: 76,624,994 (GRCm38) |
|
probably null |
Het |
| Srpk2 |
C |
A |
5: 23,545,529 (GRCm38) |
G59W |
probably damaging |
Het |
| Tyro3 |
T |
C |
2: 119,802,298 (GRCm38) |
S96P |
probably damaging |
Het |
| Ube2v1 |
A |
G |
2: 167,610,360 (GRCm38) |
S108P |
probably damaging |
Het |
| Usp2 |
C |
T |
9: 44,075,828 (GRCm38) |
S141L |
probably benign |
Het |
| Vamp5 |
T |
C |
6: 72,370,198 (GRCm38) |
D46G |
possibly damaging |
Het |
| Vmn1r23 |
T |
A |
6: 57,926,325 (GRCm38) |
Q156L |
probably benign |
Het |
| Vmn2r6 |
C |
T |
3: 64,547,408 (GRCm38) |
S490N |
probably benign |
Het |
| Vps39 |
A |
T |
2: 120,352,959 (GRCm38) |
I10N |
probably damaging |
Het |
| Vwf |
C |
T |
6: 125,645,934 (GRCm38) |
Q1755* |
probably null |
Het |
| Wdfy4 |
A |
T |
14: 33,155,760 (GRCm38) |
H82Q |
probably benign |
Het |
| Wdr24 |
T |
C |
17: 25,826,127 (GRCm38) |
Y279H |
probably damaging |
Het |
| Wdr72 |
A |
G |
9: 74,210,561 (GRCm38) |
T852A |
probably benign |
Het |
| Zfp1 |
T |
A |
8: 111,669,723 (GRCm38) |
C92* |
probably null |
Het |
| Zfp1004 |
T |
A |
2: 150,191,979 (GRCm38) |
C104* |
probably null |
Het |
| Zfp426 |
A |
T |
9: 20,475,073 (GRCm38) |
|
probably benign |
Het |
| Zfp442 |
C |
T |
2: 150,411,210 (GRCm38) |
|
probably null |
Het |
| Zfp74 |
T |
C |
7: 29,936,045 (GRCm38) |
|
probably benign |
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 |
|
|
R4581:Fer1l6
|
UTSW |
15 |
58,640,226 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CAGCTGAACTGGAGACCTAC -3'
(R):5'- CCATGAAGACAGTACACACTTG -3'
Sequencing Primer
(F):5'- TGAACTGGAGACCTACCAGCAG -3'
(R):5'- CAGTACACACTTGAAATCTTGAGGC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation