Incidental Mutation 'R4894:Fer1l6'
ID |
377517 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fer1l6
|
Ensembl Gene |
ENSMUSG00000037106 |
Gene Name |
fer-1 like family member 6 |
Synonyms |
EG631797 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.068)
|
Stock # |
R4894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
58381897-58536936 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 58490751 bp (GRCm39)
|
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: 43,609,975 (GRCm39) |
Y176* |
probably null |
Het |
Akap13 |
T |
A |
7: 75,375,068 (GRCm39) |
M1900K |
possibly damaging |
Het |
Ankrd36 |
A |
G |
11: 5,585,332 (GRCm39) |
E381G |
probably damaging |
Het |
Ap3s1 |
T |
C |
18: 46,891,183 (GRCm39) |
|
probably null |
Het |
Cacna1e |
G |
T |
1: 154,364,551 (GRCm39) |
S341* |
probably null |
Het |
Camk1d |
G |
A |
2: 5,359,539 (GRCm39) |
S161L |
probably damaging |
Het |
Cdh23 |
G |
T |
10: 60,173,630 (GRCm39) |
H1619Q |
probably benign |
Het |
Chd7 |
T |
A |
4: 8,838,629 (GRCm39) |
I1276N |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,719,662 (GRCm39) |
V436A |
probably damaging |
Het |
Ctcfl |
G |
A |
2: 172,959,196 (GRCm39) |
P177S |
probably benign |
Het |
Dab2ip |
A |
G |
2: 35,620,539 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
Epc1 |
A |
T |
18: 6,449,011 (GRCm39) |
S495R |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,230,758 (GRCm39) |
|
probably null |
Het |
Eya4 |
T |
C |
10: 22,985,753 (GRCm39) |
E583G |
possibly damaging |
Het |
Fam111a |
C |
G |
19: 12,565,913 (GRCm39) |
T554R |
probably benign |
Het |
Fbh1 |
A |
T |
2: 11,767,771 (GRCm39) |
I359N |
probably damaging |
Het |
Helz2 |
G |
C |
2: 180,877,940 (GRCm39) |
P953A |
probably benign |
Het |
Ifi204 |
G |
T |
1: 173,587,808 (GRCm39) |
S117Y |
probably damaging |
Het |
Ift70a1 |
T |
C |
2: 75,810,088 (GRCm39) |
*665W |
probably null |
Het |
Igfn1 |
G |
A |
1: 135,882,520 (GRCm39) |
T2775M |
probably damaging |
Het |
Igsf9 |
A |
G |
1: 172,325,634 (GRCm39) |
T1101A |
probably benign |
Het |
Ipo13 |
A |
C |
4: 117,760,638 (GRCm39) |
I614S |
probably damaging |
Het |
Ipo13 |
A |
G |
4: 117,761,687 (GRCm39) |
I476T |
possibly damaging |
Het |
Kdm2b |
C |
A |
5: 123,079,030 (GRCm39) |
E308* |
probably null |
Het |
Klhl20 |
A |
T |
1: 160,937,102 (GRCm39) |
M91K |
possibly damaging |
Het |
Klrb1f |
T |
C |
6: 129,030,151 (GRCm39) |
F64L |
probably benign |
Het |
Ldlrad3 |
C |
T |
2: 101,888,293 (GRCm39) |
C106Y |
probably damaging |
Het |
Lilra6 |
T |
C |
7: 3,915,530 (GRCm39) |
T161A |
probably benign |
Het |
Lrriq1 |
A |
T |
10: 102,997,613 (GRCm39) |
M1334K |
possibly damaging |
Het |
Mepe |
C |
G |
5: 104,473,268 (GRCm39) |
P3R |
probably damaging |
Het |
Mgat4e |
A |
G |
1: 134,468,856 (GRCm39) |
V396A |
probably benign |
Het |
Nfx1 |
T |
G |
4: 40,996,877 (GRCm39) |
S651A |
probably damaging |
Het |
Or10ak13 |
A |
T |
4: 118,639,483 (GRCm39) |
C100S |
probably damaging |
Het |
Or2w6 |
T |
C |
13: 21,843,352 (GRCm39) |
N47S |
probably damaging |
Het |
Or4c109 |
T |
C |
2: 88,817,783 (GRCm39) |
I254M |
possibly damaging |
Het |
Rag2 |
T |
C |
2: 101,460,022 (GRCm39) |
S111P |
probably damaging |
Het |
Rai1 |
T |
A |
11: 60,077,572 (GRCm39) |
D545E |
probably damaging |
Het |
Ralgps1 |
A |
G |
2: 33,033,115 (GRCm39) |
V498A |
possibly damaging |
Het |
Rasal2 |
G |
A |
1: 157,020,374 (GRCm39) |
S205L |
probably damaging |
Het |
Rec8 |
T |
C |
14: 55,862,787 (GRCm39) |
L582P |
probably damaging |
Het |
Retn |
G |
A |
8: 3,707,358 (GRCm39) |
R106H |
probably damaging |
Het |
Rnf112 |
A |
G |
11: 61,343,488 (GRCm39) |
L116P |
probably damaging |
Het |
Rnf213 |
T |
C |
11: 119,372,066 (GRCm39) |
Y4885H |
probably damaging |
Het |
Sacm1l |
A |
G |
9: 123,411,409 (GRCm39) |
I399M |
probably benign |
Het |
Sez6 |
G |
T |
11: 77,866,086 (GRCm39) |
G738V |
probably damaging |
Het |
Spata17 |
A |
G |
1: 186,872,643 (GRCm39) |
V56A |
probably benign |
Het |
Spata31d1a |
A |
T |
13: 59,849,542 (GRCm39) |
V862D |
probably damaging |
Het |
Sptb |
A |
G |
12: 76,671,768 (GRCm39) |
|
probably null |
Het |
Srpk2 |
C |
A |
5: 23,750,527 (GRCm39) |
G59W |
probably damaging |
Het |
Tyro3 |
T |
C |
2: 119,632,779 (GRCm39) |
S96P |
probably damaging |
Het |
Ube2v1 |
A |
G |
2: 167,452,280 (GRCm39) |
S108P |
probably damaging |
Het |
Usp2 |
C |
T |
9: 43,987,125 (GRCm39) |
S141L |
probably benign |
Het |
Vamp5 |
T |
C |
6: 72,347,181 (GRCm39) |
D46G |
possibly damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,310 (GRCm39) |
Q156L |
probably benign |
Het |
Vmn2r6 |
C |
T |
3: 64,454,829 (GRCm39) |
S490N |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,183,440 (GRCm39) |
I10N |
probably damaging |
Het |
Vwf |
C |
T |
6: 125,622,897 (GRCm39) |
Q1755* |
probably null |
Het |
Wdfy4 |
A |
T |
14: 32,877,717 (GRCm39) |
H82Q |
probably benign |
Het |
Wdr24 |
T |
C |
17: 26,045,101 (GRCm39) |
Y279H |
probably damaging |
Het |
Wdr72 |
A |
G |
9: 74,117,843 (GRCm39) |
T852A |
probably benign |
Het |
Zfp1 |
T |
A |
8: 112,396,355 (GRCm39) |
C92* |
probably null |
Het |
Zfp1004 |
T |
A |
2: 150,033,899 (GRCm39) |
C104* |
probably null |
Het |
Zfp426 |
A |
T |
9: 20,386,369 (GRCm39) |
|
probably benign |
Het |
Zfp442 |
C |
T |
2: 150,253,130 (GRCm39) |
|
probably null |
Het |
Zfp74 |
T |
C |
7: 29,635,470 (GRCm39) |
|
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 |
|
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 |
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'- CAGCTGAACTGGAGACCTAC -3'
(R):5'- CCATGAAGACAGTACACACTTG -3'
Sequencing Primer
(F):5'- TGAACTGGAGACCTACCAGCAG -3'
(R):5'- CAGTACACACTTGAAATCTTGAGGC -3'
|
Posted On |
2016-03-17 |