Incidental Mutation 'R8754:Rlf'
ID |
664023 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rlf
|
Ensembl Gene |
ENSMUSG00000049878 |
Gene Name |
rearranged L-myc fusion sequence |
Synonyms |
9230110M18Rik, MommeD8 |
MMRRC Submission |
068620-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8754 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
121003080-121072318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 121004010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1767
(T1767A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056635]
[ENSMUST00000168615]
|
AlphaFold |
A2A7F4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056635
AA Change: T1767A
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000050825 Gene: ENSMUSG00000049878 AA Change: T1767A
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 |
possibly damaging
Transcript: ENSMUST00000168615
AA Change: T1657A
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127068 Gene: ENSMUSG00000049878 AA Change: T1657A
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 |
0.0698 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
Validation Efficiency |
100% (67/67) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
C |
3: 137,771,798 (GRCm39) |
V329A |
probably benign |
Het |
A830018L16Rik |
G |
T |
1: 11,615,472 (GRCm39) |
K148N |
probably benign |
Het |
Actn3 |
A |
G |
19: 4,913,488 (GRCm39) |
F648L |
probably damaging |
Het |
Amotl2 |
A |
G |
9: 102,597,358 (GRCm39) |
D39G |
possibly damaging |
Het |
Anks1 |
C |
A |
17: 28,214,984 (GRCm39) |
T477K |
possibly damaging |
Het |
Brix1 |
A |
T |
15: 10,476,664 (GRCm39) |
S271T |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Chrna6 |
T |
C |
8: 27,897,229 (GRCm39) |
H216R |
probably damaging |
Het |
Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
Copa |
C |
T |
1: 171,935,926 (GRCm39) |
R423W |
probably damaging |
Het |
Cttnbp2 |
A |
C |
6: 18,434,037 (GRCm39) |
I607R |
possibly damaging |
Het |
Depdc5 |
A |
T |
5: 33,136,881 (GRCm39) |
T1384S |
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dusp26 |
C |
T |
8: 31,581,805 (GRCm39) |
|
probably benign |
Het |
Eif1ad13 |
T |
A |
12: 87,762,569 (GRCm39) |
N96K |
possibly damaging |
Het |
Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
Fuca1 |
T |
C |
4: 135,652,889 (GRCm39) |
L171P |
probably damaging |
Het |
Gpr158 |
G |
A |
2: 21,581,693 (GRCm39) |
V391I |
probably benign |
Het |
Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
Heatr1 |
T |
A |
13: 12,428,175 (GRCm39) |
Y771N |
probably damaging |
Het |
Il17ra |
A |
G |
6: 120,458,417 (GRCm39) |
T523A |
probably benign |
Het |
Kcnv1 |
G |
A |
15: 44,977,865 (GRCm39) |
Q58* |
probably null |
Het |
Kdm5d |
T |
C |
Y: 941,594 (GRCm39) |
V1265A |
probably damaging |
Het |
Kifc3 |
A |
T |
8: 95,829,024 (GRCm39) |
L726Q |
probably damaging |
Het |
Klk1b21 |
T |
A |
7: 43,755,912 (GRCm39) |
I247N |
probably benign |
Het |
Kntc1 |
T |
A |
5: 123,897,115 (GRCm39) |
N159K |
probably benign |
Het |
Krtap4-7 |
G |
T |
11: 99,534,667 (GRCm39) |
C65* |
probably null |
Het |
Lama2 |
C |
T |
10: 26,877,147 (GRCm39) |
V2680M |
possibly damaging |
Het |
Lipe |
T |
A |
7: 25,088,007 (GRCm39) |
M61L |
probably benign |
Het |
Med17 |
A |
G |
9: 15,188,896 (GRCm39) |
M123T |
possibly damaging |
Het |
Mrpl37 |
T |
C |
4: 106,921,611 (GRCm39) |
N206S |
probably benign |
Het |
Muc4 |
A |
T |
16: 32,602,356 (GRCm39) |
N1390Y |
|
Het |
Muc5ac |
C |
T |
7: 141,354,008 (GRCm39) |
A869V |
possibly damaging |
Het |
Nckap5l |
A |
G |
15: 99,327,290 (GRCm39) |
V133A |
probably benign |
Het |
Nin |
A |
T |
12: 70,077,787 (GRCm39) |
|
probably benign |
Het |
Nr1h2 |
C |
T |
7: 44,200,768 (GRCm39) |
A287T |
probably damaging |
Het |
Or8c16 |
A |
T |
9: 38,130,865 (GRCm39) |
I246L |
possibly damaging |
Het |
Patl1 |
A |
G |
19: 11,899,898 (GRCm39) |
E230G |
probably damaging |
Het |
Pbxip1 |
T |
C |
3: 89,355,235 (GRCm39) |
S585P |
probably damaging |
Het |
Pde3b |
T |
A |
7: 114,015,278 (GRCm39) |
W165R |
possibly damaging |
Het |
Pdia4 |
A |
C |
6: 47,773,464 (GRCm39) |
D628E |
probably benign |
Het |
Pigo |
T |
A |
4: 43,024,724 (GRCm39) |
H125L |
probably benign |
Het |
Platr25 |
A |
T |
13: 62,847,924 (GRCm39) |
*313K |
probably null |
Het |
Plxdc1 |
A |
T |
11: 97,846,337 (GRCm39) |
M169K |
possibly damaging |
Het |
Pxk |
T |
C |
14: 8,151,496 (GRCm38) |
I437T |
probably damaging |
Het |
Rnf123 |
T |
A |
9: 107,948,363 (GRCm39) |
D110V |
probably damaging |
Het |
Rnf185 |
A |
T |
11: 3,368,052 (GRCm39) |
F209I |
probably benign |
Het |
Rpl4 |
A |
T |
9: 64,082,242 (GRCm39) |
N47I |
probably damaging |
Het |
Rsl1d1 |
A |
T |
16: 11,017,512 (GRCm39) |
F151L |
probably damaging |
Het |
Sema3d |
T |
C |
5: 12,603,191 (GRCm39) |
|
probably null |
Het |
Serhl |
A |
G |
15: 82,986,126 (GRCm39) |
N80D |
probably benign |
Het |
Sh3tc1 |
C |
A |
5: 35,863,802 (GRCm39) |
R795L |
probably benign |
Het |
Slc2a12 |
A |
T |
10: 22,521,116 (GRCm39) |
T7S |
probably benign |
Het |
Snrnp200 |
A |
G |
2: 127,068,005 (GRCm39) |
Y834C |
probably damaging |
Het |
Ss18 |
G |
C |
18: 14,774,016 (GRCm39) |
Q258E |
probably damaging |
Het |
Telo2 |
G |
A |
17: 25,321,041 (GRCm39) |
L725F |
probably damaging |
Het |
Tnxb |
A |
G |
17: 34,934,882 (GRCm39) |
E2497G |
probably damaging |
Het |
Tox2 |
A |
G |
2: 163,163,360 (GRCm39) |
D111G |
|
Het |
Trim16 |
G |
A |
11: 62,731,763 (GRCm39) |
E545K |
probably benign |
Het |
Trpm7 |
A |
G |
2: 126,664,623 (GRCm39) |
W919R |
probably damaging |
Het |
Ttbk1 |
G |
T |
17: 46,756,127 (GRCm39) |
S1301* |
probably null |
Het |
Txk |
T |
C |
5: 72,889,122 (GRCm39) |
N144S |
probably damaging |
Het |
Ubqln4 |
T |
A |
3: 88,473,090 (GRCm39) |
V515E |
probably benign |
Het |
Ush2a |
C |
T |
1: 188,581,162 (GRCm39) |
R3681* |
probably null |
Het |
Ythdf3 |
A |
T |
3: 16,258,138 (GRCm39) |
N106I |
probably damaging |
Het |
Zfp367 |
A |
T |
13: 64,292,069 (GRCm39) |
C187* |
probably null |
Het |
Zfp735 |
A |
G |
11: 73,603,000 (GRCm39) |
D648G |
possibly damaging |
Het |
Zic1 |
T |
C |
9: 91,244,701 (GRCm39) |
|
probably benign |
Het |
Zik1 |
A |
G |
7: 10,223,826 (GRCm39) |
S424P |
probably 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 |
|
R5214:Rlf
|
UTSW |
4 |
121,007,897 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- ATGTCAACTTGAGGGGCACTC -3'
(R):5'- TTCTCCCTGTAAAATAGAAAGCCC -3'
Sequencing Primer
(F):5'- GAGGGGCACTCTCATTCACTATG -3'
(R):5'- CCCATACCTAATCCCAGTGGG -3'
|
Posted On |
2021-03-08 |