Incidental Mutation 'R6341:Rlf'
ID |
514375 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rlf
|
Ensembl Gene |
ENSMUSG00000049878 |
Gene Name |
rearranged L-myc fusion sequence |
Synonyms |
9230110M18Rik, MommeD8 |
MMRRC Submission |
044495-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6341 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
121003080-121072318 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 121006557 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 808
(Q808*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056635]
[ENSMUST00000168615]
|
AlphaFold |
A2A7F4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000056635
AA Change: Q918*
|
SMART Domains |
Protein: ENSMUSP00000050825 Gene: ENSMUSG00000049878 AA Change: Q918*
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 null
Transcript: ENSMUST00000168615
AA Change: Q808*
|
SMART Domains |
Protein: ENSMUSP00000127068 Gene: ENSMUSG00000049878 AA Change: Q808*
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.6%
|
Validation Efficiency |
|
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 |
Acap2 |
T |
C |
16: 30,924,364 (GRCm39) |
D658G |
possibly damaging |
Het |
Amz2 |
A |
G |
11: 109,319,653 (GRCm39) |
H13R |
probably benign |
Het |
Ankrd27 |
G |
T |
7: 35,326,828 (GRCm39) |
|
probably null |
Het |
Atp8a1 |
T |
C |
5: 67,840,270 (GRCm39) |
T704A |
possibly damaging |
Het |
Cabin1 |
A |
T |
10: 75,494,573 (GRCm39) |
M1602K |
probably damaging |
Het |
Ccdc74a |
T |
C |
16: 17,465,978 (GRCm39) |
S105P |
probably damaging |
Het |
Cdh26 |
T |
A |
2: 178,113,366 (GRCm39) |
|
probably null |
Het |
Cxcl10 |
T |
C |
5: 92,496,072 (GRCm39) |
I22V |
probably benign |
Het |
Cyp2c68 |
A |
C |
19: 39,700,933 (GRCm39) |
V295G |
possibly damaging |
Het |
Ddx10 |
A |
T |
9: 53,115,551 (GRCm39) |
D594E |
probably benign |
Het |
Ddx5 |
T |
C |
11: 106,676,368 (GRCm39) |
|
probably null |
Het |
Duox1 |
T |
C |
2: 122,168,202 (GRCm39) |
I1109T |
probably damaging |
Het |
Dusp15 |
T |
C |
2: 152,788,204 (GRCm39) |
|
probably null |
Het |
Ecel1 |
A |
G |
1: 87,078,193 (GRCm39) |
|
probably null |
Het |
Efcab6 |
T |
G |
15: 83,820,139 (GRCm39) |
Q714P |
possibly damaging |
Het |
Erc1 |
A |
G |
6: 119,754,959 (GRCm39) |
L464P |
possibly damaging |
Het |
Fam234a |
T |
A |
17: 26,432,667 (GRCm39) |
H494L |
probably damaging |
Het |
Gfpt1 |
T |
C |
6: 87,065,127 (GRCm39) |
V694A |
probably damaging |
Het |
Gli2 |
T |
C |
1: 118,763,954 (GRCm39) |
D1399G |
probably damaging |
Het |
Gm10110 |
T |
C |
14: 90,134,144 (GRCm39) |
|
noncoding transcript |
Het |
Hdac3 |
A |
G |
18: 38,077,217 (GRCm39) |
L219P |
probably damaging |
Het |
Hlcs |
A |
G |
16: 94,032,022 (GRCm39) |
F52S |
probably damaging |
Het |
Ints7 |
C |
A |
1: 191,345,239 (GRCm39) |
T643K |
probably damaging |
Het |
Ireb2 |
A |
G |
9: 54,816,064 (GRCm39) |
I878M |
probably damaging |
Het |
Itga3 |
A |
T |
11: 94,946,677 (GRCm39) |
|
probably null |
Het |
Lrfn5 |
T |
A |
12: 61,890,368 (GRCm39) |
Y552* |
probably null |
Het |
Mafb |
T |
C |
2: 160,208,371 (GRCm39) |
T76A |
probably damaging |
Het |
Man2b1 |
A |
T |
8: 85,822,028 (GRCm39) |
S748C |
probably damaging |
Het |
Mmp15 |
G |
T |
8: 96,092,091 (GRCm39) |
|
probably null |
Het |
Mmp17 |
A |
T |
5: 129,679,019 (GRCm39) |
R335W |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,355,229 (GRCm39) |
D1005V |
probably damaging |
Het |
Myh3 |
T |
C |
11: 66,973,822 (GRCm39) |
F165S |
probably benign |
Het |
Nacc1 |
T |
C |
8: 85,401,420 (GRCm39) |
D419G |
probably benign |
Het |
Neb |
G |
A |
2: 52,099,486 (GRCm39) |
S4545L |
probably damaging |
Het |
Niban3 |
C |
T |
8: 72,052,721 (GRCm39) |
P65L |
probably damaging |
Het |
Npas2 |
T |
C |
1: 39,339,768 (GRCm39) |
I106T |
probably damaging |
Het |
Ogfrl1 |
T |
G |
1: 23,408,944 (GRCm39) |
K427N |
probably benign |
Het |
Or5b12 |
T |
C |
19: 12,896,843 (GRCm39) |
T277A |
probably benign |
Het |
Pde4dip |
T |
A |
3: 97,602,227 (GRCm39) |
Q2283L |
probably benign |
Het |
Phax |
C |
T |
18: 56,706,173 (GRCm39) |
T21M |
possibly damaging |
Het |
Pitpnm1 |
A |
T |
19: 4,152,829 (GRCm39) |
K79* |
probably null |
Het |
Pkd1 |
T |
A |
17: 24,799,201 (GRCm39) |
F2807I |
probably damaging |
Het |
Plekha4 |
C |
T |
7: 45,190,572 (GRCm39) |
R427C |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,288,693 (GRCm39) |
F757L |
probably benign |
Het |
Rad1 |
A |
G |
15: 10,492,907 (GRCm39) |
D208G |
probably damaging |
Het |
Rangrf |
T |
A |
11: 68,863,538 (GRCm39) |
N156I |
probably benign |
Het |
Rasl11b |
T |
C |
5: 74,359,037 (GRCm39) |
S181P |
probably damaging |
Het |
Rigi |
T |
A |
4: 40,222,199 (GRCm39) |
|
probably null |
Het |
Rogdi |
G |
T |
16: 4,831,241 (GRCm39) |
|
probably null |
Het |
Sec24a |
A |
T |
11: 51,608,603 (GRCm39) |
V573D |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,223,615 (GRCm39) |
T200A |
probably damaging |
Het |
Srgap2 |
C |
T |
1: 131,219,367 (GRCm39) |
R259H |
probably benign |
Het |
Ssc5d |
T |
A |
7: 4,939,664 (GRCm39) |
V700E |
probably benign |
Het |
Stt3a |
A |
T |
9: 36,662,592 (GRCm39) |
H222Q |
probably damaging |
Het |
Tcaf3 |
A |
T |
6: 42,574,193 (GRCm39) |
D6E |
possibly damaging |
Het |
Tdrd12 |
C |
T |
7: 35,189,473 (GRCm39) |
R421H |
probably damaging |
Het |
Top3b |
T |
C |
16: 16,696,935 (GRCm39) |
M62T |
probably damaging |
Het |
Trhr |
T |
G |
15: 44,092,694 (GRCm39) |
Y310* |
probably null |
Het |
Urb2 |
G |
T |
8: 124,757,864 (GRCm39) |
E1190D |
probably damaging |
Het |
Usp34 |
A |
G |
11: 23,331,353 (GRCm39) |
T1085A |
probably damaging |
Het |
Vmn1r179 |
T |
A |
7: 23,628,491 (GRCm39) |
H227Q |
possibly damaging |
Het |
Vmn1r31 |
A |
T |
6: 58,448,995 (GRCm39) |
M290K |
probably benign |
Het |
Wdr75 |
T |
C |
1: 45,841,291 (GRCm39) |
|
probably null |
Het |
Wnk1 |
A |
T |
6: 119,925,546 (GRCm39) |
V1306D |
probably damaging |
Het |
Xkr4 |
T |
C |
1: 3,741,001 (GRCm39) |
T191A |
probably benign |
Het |
Zc3h15 |
A |
G |
2: 83,491,567 (GRCm39) |
E265G |
probably benign |
Het |
Zcchc9 |
A |
G |
13: 91,948,816 (GRCm39) |
F41S |
possibly damaging |
Het |
Zfp251 |
T |
C |
15: 76,738,337 (GRCm39) |
H247R |
probably damaging |
Het |
Zfp433 |
A |
G |
10: 81,555,957 (GRCm39) |
E152G |
probably damaging |
Het |
Zfp770 |
A |
T |
2: 114,027,240 (GRCm39) |
S276R |
probably benign |
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 |
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'- TTGCAGTGGTACGGATGCAC -3'
(R):5'- GCAAGATTGTGTGGACCAGTC -3'
Sequencing Primer
(F):5'- ATGCACCTTCCGCAGATG -3'
(R):5'- CTGAGAAGTCCCATTCTCTTGAAG -3'
|
Posted On |
2018-04-27 |