Incidental Mutation 'R5214:Rlf'
ID |
403327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rlf
|
Ensembl Gene |
ENSMUSG00000049878 |
Gene Name |
rearranged L-myc fusion sequence |
Synonyms |
9230110M18Rik, MommeD8 |
MMRRC Submission |
042787-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5214 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
121003080-121072318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121007897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 361
(D361G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056635]
[ENSMUST00000168615]
|
AlphaFold |
A2A7F4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056635
AA Change: D471G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050825 Gene: ENSMUSG00000049878 AA Change: D471G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
31 |
N/A |
INTRINSIC |
low complexity region
|
129 |
149 |
N/A |
INTRINSIC |
low complexity region
|
298 |
309 |
N/A |
INTRINSIC |
ZnF_C2H2
|
554 |
575 |
1.27e2 |
SMART |
ZnF_C2H2
|
581 |
603 |
1.08e-1 |
SMART |
ZnF_C2H2
|
667 |
692 |
5.42e-2 |
SMART |
ZnF_C2H2
|
710 |
732 |
8.09e-1 |
SMART |
ZnF_C2H2
|
738 |
762 |
3.99e0 |
SMART |
ZnF_C2H2
|
767 |
791 |
3.16e-3 |
SMART |
ZnF_C2H2
|
797 |
821 |
1.18e-2 |
SMART |
low complexity region
|
885 |
909 |
N/A |
INTRINSIC |
ZnF_C2H2
|
949 |
974 |
2.57e-3 |
SMART |
low complexity region
|
1055 |
1066 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1122 |
1147 |
5.9e-3 |
SMART |
ZnF_C2H2
|
1167 |
1190 |
4.17e-3 |
SMART |
low complexity region
|
1259 |
1285 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1303 |
1328 |
5.06e-2 |
SMART |
ZnF_C2H2
|
1355 |
1380 |
6.57e-1 |
SMART |
ZnF_C2H2
|
1400 |
1425 |
3.83e-2 |
SMART |
ZnF_C2H2
|
1437 |
1462 |
8.81e-2 |
SMART |
low complexity region
|
1488 |
1514 |
N/A |
INTRINSIC |
low complexity region
|
1521 |
1533 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1556 |
1581 |
4.81e0 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168615
AA Change: D361G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000127068 Gene: ENSMUSG00000049878 AA Change: D361G
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
ZnF_C2H2
|
444 |
465 |
1.27e2 |
SMART |
ZnF_C2H2
|
471 |
493 |
1.08e-1 |
SMART |
ZnF_C2H2
|
557 |
582 |
5.42e-2 |
SMART |
ZnF_C2H2
|
600 |
622 |
8.09e-1 |
SMART |
ZnF_C2H2
|
628 |
652 |
3.99e0 |
SMART |
ZnF_C2H2
|
657 |
681 |
3.16e-3 |
SMART |
ZnF_C2H2
|
687 |
711 |
1.18e-2 |
SMART |
low complexity region
|
775 |
799 |
N/A |
INTRINSIC |
ZnF_C2H2
|
839 |
864 |
2.57e-3 |
SMART |
low complexity region
|
945 |
956 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1012 |
1037 |
5.9e-3 |
SMART |
ZnF_C2H2
|
1057 |
1080 |
4.17e-3 |
SMART |
low complexity region
|
1149 |
1175 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1193 |
1218 |
5.06e-2 |
SMART |
ZnF_C2H2
|
1245 |
1270 |
6.57e-1 |
SMART |
ZnF_C2H2
|
1290 |
1315 |
3.83e-2 |
SMART |
ZnF_C2H2
|
1327 |
1352 |
8.81e-2 |
SMART |
low complexity region
|
1378 |
1404 |
N/A |
INTRINSIC |
low complexity region
|
1411 |
1423 |
N/A |
INTRINSIC |
ZnF_C2H2
|
1446 |
1471 |
4.81e0 |
SMART |
|
Meta Mutation Damage Score |
0.2157 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (77/77) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a hypomorphic ENU-induced allele exhibit postnatal lethality. Only a few mice survive to weaning age exhibiting a decreased body size. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700061I17Rik |
A |
G |
3: 116,861,424 (GRCm39) |
|
noncoding transcript |
Het |
4930449A18Rik |
A |
T |
3: 59,733,305 (GRCm39) |
|
noncoding transcript |
Het |
Acsbg3 |
T |
C |
17: 57,193,493 (GRCm39) |
V613A |
probably benign |
Het |
Adgrl1 |
G |
A |
8: 84,642,202 (GRCm39) |
|
probably null |
Het |
Aldh1l1 |
A |
G |
6: 90,540,399 (GRCm39) |
D228G |
probably damaging |
Het |
Ankrd17 |
T |
C |
5: 90,431,319 (GRCm39) |
I822V |
possibly damaging |
Het |
Atm |
C |
A |
9: 53,402,327 (GRCm39) |
A1382S |
probably benign |
Het |
Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
Cacna1e |
T |
A |
1: 154,577,110 (GRCm39) |
I96F |
possibly damaging |
Het |
Calhm5 |
A |
G |
10: 33,968,487 (GRCm39) |
S189P |
probably damaging |
Het |
Ccar1 |
G |
A |
10: 62,606,740 (GRCm39) |
R335C |
probably damaging |
Het |
Ccdc113 |
T |
C |
8: 96,272,601 (GRCm39) |
I236T |
possibly damaging |
Het |
Ccdc14 |
T |
A |
16: 34,525,225 (GRCm39) |
S125T |
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
Cdon |
T |
C |
9: 35,394,504 (GRCm39) |
C917R |
probably damaging |
Het |
Ckap2l |
T |
C |
2: 129,127,389 (GRCm39) |
D263G |
probably benign |
Het |
Cntnap3 |
G |
T |
13: 64,909,824 (GRCm39) |
H760Q |
probably damaging |
Het |
Dennd2d |
G |
A |
3: 106,393,637 (GRCm39) |
|
probably null |
Het |
Dock4 |
A |
G |
12: 40,754,465 (GRCm39) |
I485V |
probably benign |
Het |
Dspp |
A |
G |
5: 104,326,364 (GRCm39) |
D909G |
unknown |
Het |
Eps8 |
A |
T |
6: 137,504,490 (GRCm39) |
M81K |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,917,452 (GRCm39) |
S3491P |
probably damaging |
Het |
Gm17669 |
C |
T |
18: 67,695,479 (GRCm39) |
T8I |
possibly damaging |
Het |
Gm5114 |
G |
T |
7: 39,057,792 (GRCm39) |
T609K |
probably benign |
Het |
Gm973 |
A |
G |
1: 59,565,880 (GRCm39) |
N32S |
probably damaging |
Het |
Herpud1 |
G |
T |
8: 95,117,479 (GRCm39) |
|
probably null |
Het |
Jcad |
T |
A |
18: 4,674,134 (GRCm39) |
L632Q |
probably damaging |
Het |
Kcnh8 |
T |
C |
17: 53,205,486 (GRCm39) |
L527S |
probably damaging |
Het |
Klk1b11 |
C |
A |
7: 43,647,266 (GRCm39) |
H67N |
probably benign |
Het |
Ldhb |
T |
A |
6: 142,441,321 (GRCm39) |
I190F |
probably damaging |
Het |
Lrrc34 |
A |
T |
3: 30,690,397 (GRCm39) |
C168* |
probably null |
Het |
Lrtm1 |
C |
T |
14: 28,743,651 (GRCm39) |
H40Y |
possibly damaging |
Het |
Mageb3 |
T |
C |
2: 121,785,319 (GRCm39) |
M128V |
possibly damaging |
Het |
Miga2 |
A |
G |
2: 30,261,208 (GRCm39) |
T90A |
probably benign |
Het |
Msantd5 |
C |
A |
11: 51,125,675 (GRCm39) |
H199Q |
possibly damaging |
Het |
Ndrg1 |
G |
A |
15: 66,831,239 (GRCm39) |
T24I |
probably damaging |
Het |
Nos2 |
T |
C |
11: 78,846,267 (GRCm39) |
L878P |
probably damaging |
Het |
Or11g27 |
T |
G |
14: 50,771,804 (GRCm39) |
*312E |
probably null |
Het |
Pcdhgb1 |
T |
A |
18: 37,814,478 (GRCm39) |
I323N |
probably damaging |
Het |
Plec |
A |
G |
15: 76,061,921 (GRCm39) |
I2537T |
probably damaging |
Het |
Pnpo |
C |
A |
11: 96,833,295 (GRCm39) |
E68D |
probably benign |
Het |
Ppp6r1 |
C |
T |
7: 4,646,176 (GRCm39) |
R175Q |
probably benign |
Het |
Prnp |
C |
T |
2: 131,778,924 (GRCm39) |
T192I |
probably damaging |
Het |
Ptprb |
T |
C |
10: 116,205,229 (GRCm39) |
I2148T |
possibly damaging |
Het |
Raf1 |
G |
T |
6: 115,614,583 (GRCm39) |
F99L |
possibly damaging |
Het |
Rbks |
A |
G |
5: 31,807,736 (GRCm39) |
|
probably benign |
Het |
Rnpepl1 |
G |
T |
1: 92,847,001 (GRCm39) |
D608Y |
probably benign |
Het |
Scaf1 |
G |
A |
7: 44,652,662 (GRCm39) |
|
probably benign |
Het |
Sh3rf1 |
A |
T |
8: 61,825,765 (GRCm39) |
M587L |
probably damaging |
Het |
Slc22a21 |
A |
T |
11: 53,843,869 (GRCm39) |
S473T |
probably damaging |
Het |
Syt15 |
A |
G |
14: 33,943,703 (GRCm39) |
D84G |
possibly damaging |
Het |
Tbc1d19 |
T |
C |
5: 54,007,183 (GRCm39) |
L236P |
probably benign |
Het |
Tbx2 |
G |
T |
11: 85,729,263 (GRCm39) |
A549S |
probably benign |
Het |
Tc2n |
A |
T |
12: 101,659,461 (GRCm39) |
C157* |
probably null |
Het |
Tecta |
C |
T |
9: 42,256,964 (GRCm39) |
V1571I |
probably benign |
Het |
Them4 |
A |
G |
3: 94,224,818 (GRCm39) |
K65R |
probably benign |
Het |
Tmc5 |
C |
T |
7: 118,247,155 (GRCm39) |
T553M |
probably damaging |
Het |
Tmem200c |
C |
T |
17: 69,148,122 (GRCm39) |
A235V |
probably damaging |
Het |
Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
Tmf1 |
G |
C |
6: 97,144,253 (GRCm39) |
A701G |
possibly damaging |
Het |
Tomm70a |
G |
A |
16: 56,942,300 (GRCm39) |
G26S |
unknown |
Het |
Treh |
T |
C |
9: 44,594,173 (GRCm39) |
Y140H |
probably damaging |
Het |
Ttc28 |
A |
G |
5: 111,325,489 (GRCm39) |
|
probably benign |
Het |
Uba7 |
T |
C |
9: 107,854,713 (GRCm39) |
|
probably benign |
Het |
Ube4a |
T |
C |
9: 44,860,166 (GRCm39) |
I299V |
probably benign |
Het |
Zfhx4 |
A |
C |
3: 5,468,701 (GRCm39) |
K2953T |
probably damaging |
Het |
Zfp280d |
T |
A |
9: 72,215,395 (GRCm39) |
|
probably benign |
Het |
Zscan20 |
G |
A |
4: 128,482,109 (GRCm39) |
R518C |
probably benign |
Het |
Zw10 |
T |
C |
9: 48,975,463 (GRCm39) |
I296T |
possibly damaging |
Het |
|
Other mutations in Rlf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Rlf
|
APN |
4 |
121,027,883 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00558:Rlf
|
APN |
4 |
121,008,170 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00990:Rlf
|
APN |
4 |
121,005,536 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01625:Rlf
|
APN |
4 |
121,045,457 (GRCm39) |
missense |
possibly damaging |
0.68 |
IGL01921:Rlf
|
APN |
4 |
121,003,943 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01986:Rlf
|
APN |
4 |
121,005,303 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02232:Rlf
|
APN |
4 |
121,039,811 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02586:Rlf
|
APN |
4 |
121,007,261 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03177:Rlf
|
APN |
4 |
121,005,276 (GRCm39) |
nonsense |
probably null |
|
IGL03233:Rlf
|
APN |
4 |
121,039,797 (GRCm39) |
splice site |
probably benign |
|
IGL03293:Rlf
|
APN |
4 |
121,005,527 (GRCm39) |
missense |
probably benign |
0.18 |
Brady
|
UTSW |
4 |
121,005,750 (GRCm39) |
nonsense |
probably null |
|
bunch
|
UTSW |
4 |
121,012,172 (GRCm39) |
missense |
probably damaging |
1.00 |
Rosary
|
UTSW |
4 |
121,005,807 (GRCm39) |
missense |
probably damaging |
0.99 |
transsubstantiation
|
UTSW |
4 |
121,005,488 (GRCm39) |
missense |
probably benign |
0.10 |
wafer
|
UTSW |
4 |
121,007,729 (GRCm39) |
missense |
probably benign |
0.00 |
Wine
|
UTSW |
4 |
121,005,369 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4651001:Rlf
|
UTSW |
4 |
121,007,510 (GRCm39) |
missense |
probably damaging |
0.98 |
R0019:Rlf
|
UTSW |
4 |
121,003,769 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0019:Rlf
|
UTSW |
4 |
121,003,769 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0039:Rlf
|
UTSW |
4 |
121,004,039 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0041:Rlf
|
UTSW |
4 |
121,007,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R0041:Rlf
|
UTSW |
4 |
121,007,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R0590:Rlf
|
UTSW |
4 |
121,028,030 (GRCm39) |
splice site |
probably benign |
|
R1562:Rlf
|
UTSW |
4 |
121,007,588 (GRCm39) |
missense |
possibly damaging |
0.47 |
R1585:Rlf
|
UTSW |
4 |
121,005,488 (GRCm39) |
missense |
probably benign |
0.10 |
R1627:Rlf
|
UTSW |
4 |
121,007,197 (GRCm39) |
missense |
probably benign |
0.34 |
R1709:Rlf
|
UTSW |
4 |
121,007,020 (GRCm39) |
missense |
probably benign |
0.00 |
R1968:Rlf
|
UTSW |
4 |
121,005,617 (GRCm39) |
missense |
probably damaging |
1.00 |
R1982:Rlf
|
UTSW |
4 |
121,007,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R3120:Rlf
|
UTSW |
4 |
121,006,680 (GRCm39) |
missense |
probably benign |
0.01 |
R3155:Rlf
|
UTSW |
4 |
121,006,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Rlf
|
UTSW |
4 |
121,006,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R3162:Rlf
|
UTSW |
4 |
121,006,044 (GRCm39) |
missense |
probably damaging |
1.00 |
R3429:Rlf
|
UTSW |
4 |
121,007,729 (GRCm39) |
missense |
probably benign |
0.00 |
R3430:Rlf
|
UTSW |
4 |
121,007,729 (GRCm39) |
missense |
probably benign |
0.00 |
R3700:Rlf
|
UTSW |
4 |
121,008,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
R3732:Rlf
|
UTSW |
4 |
121,005,521 (GRCm39) |
missense |
probably benign |
|
R3909:Rlf
|
UTSW |
4 |
121,006,229 (GRCm39) |
missense |
probably benign |
0.00 |
R4033:Rlf
|
UTSW |
4 |
121,004,540 (GRCm39) |
missense |
probably damaging |
1.00 |
R4350:Rlf
|
UTSW |
4 |
121,006,293 (GRCm39) |
missense |
probably benign |
0.16 |
R4654:Rlf
|
UTSW |
4 |
121,007,798 (GRCm39) |
missense |
probably benign |
0.28 |
R4976:Rlf
|
UTSW |
4 |
121,004,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R5060:Rlf
|
UTSW |
4 |
121,004,063 (GRCm39) |
missense |
probably benign |
0.00 |
R5105:Rlf
|
UTSW |
4 |
121,007,564 (GRCm39) |
missense |
probably damaging |
1.00 |
R5119:Rlf
|
UTSW |
4 |
121,004,652 (GRCm39) |
missense |
probably damaging |
0.98 |
R5150:Rlf
|
UTSW |
4 |
121,005,369 (GRCm39) |
missense |
probably damaging |
1.00 |
R5198:Rlf
|
UTSW |
4 |
121,005,750 (GRCm39) |
nonsense |
probably null |
|
R6084:Rlf
|
UTSW |
4 |
121,006,412 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6131:Rlf
|
UTSW |
4 |
121,012,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R6188:Rlf
|
UTSW |
4 |
121,027,963 (GRCm39) |
missense |
probably damaging |
1.00 |
R6313:Rlf
|
UTSW |
4 |
121,005,807 (GRCm39) |
missense |
probably damaging |
0.99 |
R6332:Rlf
|
UTSW |
4 |
121,006,019 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6341:Rlf
|
UTSW |
4 |
121,006,557 (GRCm39) |
nonsense |
probably null |
|
R6413:Rlf
|
UTSW |
4 |
121,004,522 (GRCm39) |
missense |
probably damaging |
1.00 |
R6683:Rlf
|
UTSW |
4 |
121,005,123 (GRCm39) |
missense |
probably damaging |
1.00 |
R7066:Rlf
|
UTSW |
4 |
121,005,984 (GRCm39) |
missense |
probably benign |
|
R7413:Rlf
|
UTSW |
4 |
121,007,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R7640:Rlf
|
UTSW |
4 |
121,003,998 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7641:Rlf
|
UTSW |
4 |
121,016,393 (GRCm39) |
missense |
probably damaging |
1.00 |
R7855:Rlf
|
UTSW |
4 |
121,039,888 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8127:Rlf
|
UTSW |
4 |
121,005,093 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8146:Rlf
|
UTSW |
4 |
121,004,429 (GRCm39) |
missense |
probably benign |
0.16 |
R8182:Rlf
|
UTSW |
4 |
121,008,102 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8350:Rlf
|
UTSW |
4 |
121,027,954 (GRCm39) |
missense |
probably damaging |
0.98 |
R8375:Rlf
|
UTSW |
4 |
121,005,532 (GRCm39) |
missense |
probably damaging |
0.96 |
R8754:Rlf
|
UTSW |
4 |
121,004,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8837:Rlf
|
UTSW |
4 |
121,045,432 (GRCm39) |
missense |
probably benign |
0.06 |
R8901:Rlf
|
UTSW |
4 |
121,004,010 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9054:Rlf
|
UTSW |
4 |
121,007,784 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9090:Rlf
|
UTSW |
4 |
121,004,751 (GRCm39) |
missense |
probably benign |
|
R9144:Rlf
|
UTSW |
4 |
121,003,900 (GRCm39) |
missense |
probably benign |
0.16 |
R9265:Rlf
|
UTSW |
4 |
121,007,487 (GRCm39) |
missense |
possibly damaging |
0.63 |
R9271:Rlf
|
UTSW |
4 |
121,004,751 (GRCm39) |
missense |
probably benign |
|
R9549:Rlf
|
UTSW |
4 |
121,005,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R9550:Rlf
|
UTSW |
4 |
121,003,620 (GRCm39) |
missense |
probably damaging |
1.00 |
R9570:Rlf
|
UTSW |
4 |
121,007,087 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9627:Rlf
|
UTSW |
4 |
121,007,002 (GRCm39) |
nonsense |
probably null |
|
R9652:Rlf
|
UTSW |
4 |
121,007,865 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Rlf
|
UTSW |
4 |
121,007,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTCTCAGAGGAACCAATGGG -3'
(R):5'- ACGAGCCTGTCAGCTTACAG -3'
Sequencing Primer
(F):5'- CTCAGAGGAACCAATGGGCTTTTTG -3'
(R):5'- GAATTCTTAATTGAACCCAGTTTGG -3'
|
Posted On |
2016-07-22 |