Incidental Mutation 'R6332:Rlf'
ID |
513160 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rlf
|
Ensembl Gene |
ENSMUSG00000049878 |
Gene Name |
rearranged L-myc fusion sequence |
Synonyms |
9230110M18Rik, MommeD8 |
MMRRC Submission |
044486-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6332 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
121003080-121072318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 121006019 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 987
(I987N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127068
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056635]
[ENSMUST00000168615]
|
AlphaFold |
A2A7F4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000056635
AA Change: I1097N
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000050825 Gene: ENSMUSG00000049878 AA Change: I1097N
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: I987N
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000127068 Gene: ENSMUSG00000049878 AA Change: I987N
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: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
99% (67/68) |
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933421I07Rik |
C |
A |
7: 42,095,667 (GRCm39) |
G194C |
possibly damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,135,248 (GRCm39) |
K258E |
probably damaging |
Het |
Afdn |
A |
T |
17: 14,030,707 (GRCm39) |
D206V |
possibly damaging |
Het |
Agt |
G |
T |
8: 125,284,572 (GRCm39) |
Q389K |
possibly damaging |
Het |
Ankrd44 |
A |
T |
1: 54,801,432 (GRCm39) |
D298E |
probably damaging |
Het |
Anks1 |
A |
G |
17: 28,271,709 (GRCm39) |
S897G |
probably benign |
Het |
Apol9b |
A |
G |
15: 77,619,746 (GRCm39) |
|
probably null |
Het |
Baz1a |
T |
C |
12: 54,965,339 (GRCm39) |
E705G |
probably benign |
Het |
BC048679 |
C |
T |
7: 81,144,966 (GRCm39) |
V126M |
probably benign |
Het |
Cep295 |
A |
G |
9: 15,246,210 (GRCm39) |
F749L |
possibly damaging |
Het |
Cntrl |
T |
A |
2: 35,018,036 (GRCm39) |
I482K |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,749,955 (GRCm39) |
F293S |
probably damaging |
Het |
Dnah12 |
T |
G |
14: 26,439,129 (GRCm39) |
M527R |
probably damaging |
Het |
Dnhd1 |
G |
A |
7: 105,343,273 (GRCm39) |
R1539H |
probably benign |
Het |
Ece1 |
A |
G |
4: 137,685,319 (GRCm39) |
Y603C |
probably damaging |
Het |
Eea1 |
G |
A |
10: 95,877,335 (GRCm39) |
A1350T |
possibly damaging |
Het |
Exoc3l4 |
A |
T |
12: 111,394,402 (GRCm39) |
K507N |
possibly damaging |
Het |
Flt3l |
A |
T |
7: 44,783,091 (GRCm39) |
|
probably null |
Het |
Fn1 |
T |
C |
1: 71,667,230 (GRCm39) |
Q834R |
probably benign |
Het |
Haus5 |
C |
T |
7: 30,358,401 (GRCm39) |
W298* |
probably null |
Het |
Hycc2 |
T |
A |
1: 58,569,034 (GRCm39) |
Y515F |
probably damaging |
Het |
Ifih1 |
T |
C |
2: 62,469,827 (GRCm39) |
N157D |
possibly damaging |
Het |
Itga2 |
A |
C |
13: 114,980,009 (GRCm39) |
M1064R |
probably benign |
Het |
Itgae |
A |
G |
11: 73,002,228 (GRCm39) |
|
probably null |
Het |
Krtap10-4 |
T |
C |
10: 77,662,883 (GRCm39) |
|
probably benign |
Het |
Lamp3 |
A |
G |
16: 19,518,431 (GRCm39) |
C269R |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,709,355 (GRCm39) |
D125G |
probably damaging |
Het |
Matn2 |
A |
C |
15: 34,423,901 (GRCm39) |
E586D |
probably benign |
Het |
Mef2b |
T |
A |
8: 70,616,789 (GRCm39) |
|
probably null |
Het |
Mrps22 |
A |
G |
9: 98,483,524 (GRCm39) |
|
probably null |
Het |
Mtmr2 |
T |
C |
9: 13,711,325 (GRCm39) |
F445L |
probably damaging |
Het |
Nxph4 |
A |
G |
10: 127,362,237 (GRCm39) |
V218A |
probably damaging |
Het |
Or1e23 |
A |
G |
11: 73,408,001 (GRCm39) |
V8A |
probably benign |
Het |
Or4f57 |
C |
T |
2: 111,791,091 (GRCm39) |
G109D |
probably damaging |
Het |
Or51k1 |
A |
G |
7: 103,660,980 (GRCm39) |
S310P |
probably benign |
Het |
Pdpk1 |
A |
T |
17: 24,325,896 (GRCm39) |
V100D |
probably damaging |
Het |
Phldb2 |
A |
C |
16: 45,594,609 (GRCm39) |
S899A |
probably benign |
Het |
Pnpla3 |
G |
A |
15: 84,056,983 (GRCm39) |
|
probably null |
Het |
Rasal2 |
A |
G |
1: 157,126,757 (GRCm39) |
Y94H |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rprd2 |
A |
G |
3: 95,687,753 (GRCm39) |
Y300H |
probably damaging |
Het |
Setbp1 |
G |
A |
18: 78,826,584 (GRCm39) |
S1343L |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,648,105 (GRCm39) |
K938E |
possibly damaging |
Het |
Shld2 |
A |
G |
14: 33,990,129 (GRCm39) |
V259A |
probably benign |
Het |
Slc3a1 |
A |
C |
17: 85,335,860 (GRCm39) |
M1L |
probably damaging |
Het |
Slco5a1 |
C |
T |
1: 12,991,409 (GRCm39) |
V427I |
probably benign |
Het |
Ssbp2 |
A |
T |
13: 91,839,027 (GRCm39) |
M300L |
probably benign |
Het |
Ssc5d |
A |
G |
7: 4,940,521 (GRCm39) |
D878G |
probably damaging |
Het |
Stk19 |
A |
G |
17: 35,043,574 (GRCm39) |
L212P |
probably damaging |
Het |
Stk39 |
T |
C |
2: 68,240,387 (GRCm39) |
M115V |
possibly damaging |
Het |
Syt17 |
A |
C |
7: 118,033,466 (GRCm39) |
S181A |
probably benign |
Het |
Taar7b |
A |
T |
10: 23,875,849 (GRCm39) |
N5Y |
probably benign |
Het |
Tmc4 |
A |
G |
7: 3,680,421 (GRCm39) |
|
probably null |
Het |
Tmem248 |
T |
A |
5: 130,258,310 (GRCm39) |
M1K |
probably null |
Het |
Tmem82 |
T |
A |
4: 141,343,721 (GRCm39) |
Q183L |
probably damaging |
Het |
Tpd52l1 |
T |
C |
10: 31,214,203 (GRCm39) |
E142G |
probably damaging |
Het |
Ttll2 |
A |
T |
17: 7,619,167 (GRCm39) |
H253Q |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,687,808 (GRCm39) |
|
probably benign |
Het |
Ubd |
A |
G |
17: 37,506,392 (GRCm39) |
K93E |
probably benign |
Het |
Ugt2b35 |
T |
A |
5: 87,149,415 (GRCm39) |
F222Y |
probably damaging |
Het |
Vmn2r10 |
G |
T |
5: 109,151,328 (GRCm39) |
N95K |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,434,904 (GRCm39) |
V1775A |
probably benign |
Het |
Zdbf2 |
A |
G |
1: 63,346,981 (GRCm39) |
K1787E |
possibly damaging |
Het |
Zfp26 |
A |
T |
9: 20,348,582 (GRCm39) |
F661I |
probably damaging |
Het |
Zfp735 |
A |
T |
11: 73,602,504 (GRCm39) |
K483* |
probably null |
Het |
Zfp946 |
A |
G |
17: 22,673,519 (GRCm39) |
E91G |
probably damaging |
Het |
Zic5 |
C |
A |
14: 122,697,161 (GRCm39) |
D485Y |
unknown |
Het |
Zmynd8 |
A |
T |
2: 165,680,772 (GRCm39) |
D236E |
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 |
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'- TTTGGCAGATGTGACACCGG -3'
(R):5'- TCCATTTGTGCTTCTAAAAGGC -3'
Sequencing Primer
(F):5'- CATGGTTAACTGAAGGACCTTCTC -3'
(R):5'- GTGCTTCTAAAAGGCCATGTACAG -3'
|
Posted On |
2018-04-27 |