Incidental Mutation 'R7640:Rlf'
ID |
590175 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rlf
|
Ensembl Gene |
ENSMUSG00000049878 |
Gene Name |
rearranged L-myc fusion sequence |
Synonyms |
MommeD8, 9230110M18Rik |
MMRRC Submission |
045698-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7640 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
121145373-121215084 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 121146801 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1771
(M1771L)
|
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: M1771L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000050825 Gene: ENSMUSG00000049878 AA Change: M1771L
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: M1661L
PolyPhen 2
Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000127068 Gene: ENSMUSG00000049878 AA Change: M1661L
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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
99% (68/69) |
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 |
1700013G24Rik |
A |
T |
4: 137,454,594 (GRCm38) |
N20I |
probably damaging |
Het |
1700020D05Rik |
T |
A |
19: 5,503,007 (GRCm38) |
S249C |
probably damaging |
Het |
4930558K02Rik |
A |
G |
1: 161,957,149 (GRCm38) |
S74P |
probably benign |
Het |
4932415D10Rik |
T |
A |
10: 82,294,656 (GRCm38) |
N840I |
probably damaging |
Het |
Abcb6 |
A |
T |
1: 75,174,845 (GRCm38) |
|
probably null |
Het |
Adamts14 |
C |
A |
10: 61,246,057 (GRCm38) |
A234S |
probably benign |
Het |
Ankrd42 |
A |
G |
7: 92,619,635 (GRCm38) |
S167P |
probably benign |
Het |
Ap3m1 |
T |
C |
14: 21,038,175 (GRCm38) |
I272V |
probably benign |
Het |
Armt1 |
T |
C |
10: 4,453,572 (GRCm38) |
F219S |
probably damaging |
Het |
Atr |
T |
G |
9: 95,907,293 (GRCm38) |
|
probably null |
Het |
Cep72 |
G |
A |
13: 74,058,488 (GRCm38) |
Q72* |
probably null |
Het |
Clock |
G |
T |
5: 76,248,378 (GRCm38) |
L175M |
possibly damaging |
Het |
Cnmd |
T |
A |
14: 79,661,534 (GRCm38) |
Y26F |
possibly damaging |
Het |
Col6a6 |
A |
T |
9: 105,785,744 (GRCm38) |
M198K |
possibly damaging |
Het |
Cuta |
C |
T |
17: 26,938,422 (GRCm38) |
V135I |
probably benign |
Het |
Ddx41 |
A |
T |
13: 55,534,239 (GRCm38) |
M241K |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 99,101,114 (GRCm38) |
N60S |
probably damaging |
Het |
Drc3 |
A |
G |
11: 60,388,904 (GRCm38) |
M432V |
probably benign |
Het |
Eef1d |
C |
A |
15: 75,902,707 (GRCm38) |
G368C |
probably damaging |
Het |
En2 |
A |
T |
5: 28,170,166 (GRCm38) |
K236* |
probably null |
Het |
Fas |
A |
G |
19: 34,307,164 (GRCm38) |
T24A |
possibly damaging |
Het |
Gm13078 |
T |
C |
4: 143,726,706 (GRCm38) |
V128A |
probably benign |
Het |
Golga2 |
T |
C |
2: 32,306,239 (GRCm38) |
V930A |
probably benign |
Het |
Gprin2 |
G |
T |
14: 34,195,753 (GRCm38) |
A20D |
probably benign |
Het |
Ighv14-4 |
A |
T |
12: 114,176,444 (GRCm38) |
C115* |
probably null |
Het |
Impdh2 |
T |
C |
9: 108,565,181 (GRCm38) |
Y459H |
possibly damaging |
Het |
Klhdc7b |
G |
T |
15: 89,387,260 (GRCm38) |
V124L |
possibly damaging |
Het |
L2hgdh |
A |
T |
12: 69,721,357 (GRCm38) |
Y122* |
probably null |
Het |
Lamc2 |
A |
T |
1: 153,136,804 (GRCm38) |
I708N |
possibly damaging |
Het |
Large2 |
T |
C |
2: 92,374,705 (GRCm38) |
M1V |
probably null |
Het |
Lrit2 |
T |
C |
14: 37,072,124 (GRCm38) |
W382R |
probably damaging |
Het |
Mcee |
T |
A |
7: 64,411,968 (GRCm38) |
V173E |
probably damaging |
Het |
Mcph1 |
T |
A |
8: 18,632,326 (GRCm38) |
V493E |
probably benign |
Het |
Mfap4 |
A |
G |
11: 61,487,087 (GRCm38) |
N118D |
probably damaging |
Het |
Mknk2 |
T |
C |
10: 80,668,566 (GRCm38) |
S301G |
probably benign |
Het |
Mlf1 |
G |
A |
3: 67,392,933 (GRCm38) |
M94I |
possibly damaging |
Het |
Mrc2 |
T |
A |
11: 105,332,295 (GRCm38) |
S455T |
possibly damaging |
Het |
Mrgprb5 |
T |
G |
7: 48,168,259 (GRCm38) |
I243L |
probably benign |
Het |
Muc4 |
C |
A |
16: 32,760,105 (GRCm38) |
P360T |
|
Het |
Nat10 |
G |
A |
2: 103,743,090 (GRCm38) |
A354V |
probably damaging |
Het |
Nts |
T |
C |
10: 102,490,304 (GRCm38) |
Q7R |
possibly damaging |
Het |
Oas1b |
T |
C |
5: 120,821,414 (GRCm38) |
L288P |
probably damaging |
Het |
Olfr1076 |
A |
G |
2: 86,508,943 (GRCm38) |
I161M |
possibly damaging |
Het |
Olfr1131 |
A |
G |
2: 87,629,092 (GRCm38) |
I94V |
probably benign |
Het |
Olfr1196 |
T |
A |
2: 88,700,886 (GRCm38) |
I148L |
probably benign |
Het |
Olfr633 |
A |
T |
7: 103,946,943 (GRCm38) |
I126F |
probably damaging |
Het |
Otoa |
A |
G |
7: 121,145,626 (GRCm38) |
E869G |
probably damaging |
Het |
Pcdhac2 |
T |
C |
18: 37,144,525 (GRCm38) |
L186P |
probably damaging |
Het |
Plekhh2 |
A |
G |
17: 84,610,776 (GRCm38) |
E1271G |
possibly damaging |
Het |
Pmepa1 |
C |
T |
2: 173,276,163 (GRCm38) |
A8T |
probably benign |
Het |
Rc3h2 |
A |
G |
2: 37,377,849 (GRCm38) |
|
probably null |
Het |
Rpap1 |
G |
A |
2: 119,764,410 (GRCm38) |
P1372L |
possibly damaging |
Het |
Rragd |
A |
T |
4: 32,983,527 (GRCm38) |
D22V |
probably benign |
Het |
Sema3f |
A |
T |
9: 107,683,575 (GRCm38) |
S644R |
probably benign |
Het |
Sp110 |
G |
A |
1: 85,579,092 (GRCm38) |
R417C |
probably benign |
Het |
Specc1l |
T |
A |
10: 75,257,869 (GRCm38) |
N717K |
probably damaging |
Het |
Sphkap |
C |
T |
1: 83,278,928 (GRCm38) |
D367N |
possibly damaging |
Het |
Tbc1d21 |
C |
T |
9: 58,361,261 (GRCm38) |
V272M |
probably damaging |
Het |
Tmem132c |
A |
G |
5: 127,563,006 (GRCm38) |
D747G |
probably damaging |
Het |
Tmem56 |
A |
G |
3: 121,235,041 (GRCm38) |
|
probably null |
Het |
Trim2 |
C |
A |
3: 84,190,906 (GRCm38) |
V372F |
probably benign |
Het |
Ttc34 |
A |
G |
4: 154,861,384 (GRCm38) |
T292A |
probably benign |
Het |
Ube3b |
A |
G |
5: 114,415,323 (GRCm38) |
T919A |
probably benign |
Het |
Wdr34 |
T |
G |
2: 30,031,768 (GRCm38) |
D527A |
probably benign |
Het |
Zfhx4 |
T |
C |
3: 5,412,480 (GRCm38) |
I3385T |
probably benign |
Het |
Zfp423 |
T |
C |
8: 87,781,277 (GRCm38) |
K813R |
probably damaging |
Het |
Zfp850 |
T |
C |
7: 27,989,209 (GRCm38) |
T525A |
probably benign |
Het |
Zfp873 |
T |
C |
10: 82,060,275 (GRCm38) |
I280T |
possibly damaging |
Het |
Zkscan7 |
A |
G |
9: 122,896,056 (GRCm38) |
T697A |
possibly damaging |
Het |
|
Other mutations in Rlf |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00547:Rlf
|
APN |
4 |
121,170,686 (GRCm38) |
missense |
possibly damaging |
0.89 |
IGL00558:Rlf
|
APN |
4 |
121,150,973 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL00990:Rlf
|
APN |
4 |
121,148,339 (GRCm38) |
missense |
possibly damaging |
0.87 |
IGL01625:Rlf
|
APN |
4 |
121,188,260 (GRCm38) |
missense |
possibly damaging |
0.68 |
IGL01921:Rlf
|
APN |
4 |
121,146,746 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01986:Rlf
|
APN |
4 |
121,148,106 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02232:Rlf
|
APN |
4 |
121,182,614 (GRCm38) |
missense |
probably benign |
0.21 |
IGL02586:Rlf
|
APN |
4 |
121,150,064 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL03177:Rlf
|
APN |
4 |
121,148,079 (GRCm38) |
nonsense |
probably null |
|
IGL03233:Rlf
|
APN |
4 |
121,182,600 (GRCm38) |
splice site |
probably benign |
|
IGL03293:Rlf
|
APN |
4 |
121,148,330 (GRCm38) |
missense |
probably benign |
0.18 |
Brady
|
UTSW |
4 |
121,148,553 (GRCm38) |
nonsense |
probably null |
|
bunch
|
UTSW |
4 |
121,154,975 (GRCm38) |
missense |
probably damaging |
1.00 |
Rosary
|
UTSW |
4 |
121,148,610 (GRCm38) |
missense |
probably damaging |
0.99 |
transsubstantiation
|
UTSW |
4 |
121,148,291 (GRCm38) |
missense |
probably benign |
0.10 |
wafer
|
UTSW |
4 |
121,150,532 (GRCm38) |
missense |
probably benign |
0.00 |
Wine
|
UTSW |
4 |
121,148,172 (GRCm38) |
missense |
probably damaging |
1.00 |
PIT4651001:Rlf
|
UTSW |
4 |
121,150,313 (GRCm38) |
missense |
probably damaging |
0.98 |
R0019:Rlf
|
UTSW |
4 |
121,146,572 (GRCm38) |
missense |
possibly damaging |
0.46 |
R0019:Rlf
|
UTSW |
4 |
121,146,572 (GRCm38) |
missense |
possibly damaging |
0.46 |
R0039:Rlf
|
UTSW |
4 |
121,146,842 (GRCm38) |
missense |
possibly damaging |
0.90 |
R0041:Rlf
|
UTSW |
4 |
121,149,929 (GRCm38) |
missense |
probably damaging |
1.00 |
R0041:Rlf
|
UTSW |
4 |
121,149,929 (GRCm38) |
missense |
probably damaging |
1.00 |
R0590:Rlf
|
UTSW |
4 |
121,170,833 (GRCm38) |
splice site |
probably benign |
|
R1562:Rlf
|
UTSW |
4 |
121,150,391 (GRCm38) |
missense |
possibly damaging |
0.47 |
R1585:Rlf
|
UTSW |
4 |
121,148,291 (GRCm38) |
missense |
probably benign |
0.10 |
R1627:Rlf
|
UTSW |
4 |
121,150,000 (GRCm38) |
missense |
probably benign |
0.34 |
R1709:Rlf
|
UTSW |
4 |
121,149,823 (GRCm38) |
missense |
probably benign |
0.00 |
R1968:Rlf
|
UTSW |
4 |
121,148,420 (GRCm38) |
missense |
probably damaging |
1.00 |
R1982:Rlf
|
UTSW |
4 |
121,150,112 (GRCm38) |
missense |
probably damaging |
1.00 |
R3120:Rlf
|
UTSW |
4 |
121,149,483 (GRCm38) |
missense |
probably benign |
0.01 |
R3155:Rlf
|
UTSW |
4 |
121,149,332 (GRCm38) |
missense |
probably damaging |
1.00 |
R3162:Rlf
|
UTSW |
4 |
121,148,847 (GRCm38) |
missense |
probably damaging |
1.00 |
R3162:Rlf
|
UTSW |
4 |
121,148,847 (GRCm38) |
missense |
probably damaging |
1.00 |
R3429:Rlf
|
UTSW |
4 |
121,150,532 (GRCm38) |
missense |
probably benign |
0.00 |
R3430:Rlf
|
UTSW |
4 |
121,150,532 (GRCm38) |
missense |
probably benign |
0.00 |
R3700:Rlf
|
UTSW |
4 |
121,150,863 (GRCm38) |
missense |
possibly damaging |
0.77 |
R3732:Rlf
|
UTSW |
4 |
121,148,324 (GRCm38) |
missense |
probably benign |
|
R3909:Rlf
|
UTSW |
4 |
121,149,032 (GRCm38) |
missense |
probably benign |
0.00 |
R4033:Rlf
|
UTSW |
4 |
121,147,343 (GRCm38) |
missense |
probably damaging |
1.00 |
R4350:Rlf
|
UTSW |
4 |
121,149,096 (GRCm38) |
missense |
probably benign |
0.16 |
R4654:Rlf
|
UTSW |
4 |
121,150,601 (GRCm38) |
missense |
probably benign |
0.28 |
R4976:Rlf
|
UTSW |
4 |
121,147,455 (GRCm38) |
missense |
probably damaging |
0.98 |
R5060:Rlf
|
UTSW |
4 |
121,146,866 (GRCm38) |
missense |
probably benign |
0.00 |
R5105:Rlf
|
UTSW |
4 |
121,150,367 (GRCm38) |
missense |
probably damaging |
1.00 |
R5119:Rlf
|
UTSW |
4 |
121,147,455 (GRCm38) |
missense |
probably damaging |
0.98 |
R5150:Rlf
|
UTSW |
4 |
121,148,172 (GRCm38) |
missense |
probably damaging |
1.00 |
R5198:Rlf
|
UTSW |
4 |
121,148,553 (GRCm38) |
nonsense |
probably null |
|
R5214:Rlf
|
UTSW |
4 |
121,150,700 (GRCm38) |
missense |
probably damaging |
1.00 |
R6084:Rlf
|
UTSW |
4 |
121,149,215 (GRCm38) |
missense |
possibly damaging |
0.95 |
R6131:Rlf
|
UTSW |
4 |
121,154,975 (GRCm38) |
missense |
probably damaging |
1.00 |
R6188:Rlf
|
UTSW |
4 |
121,170,766 (GRCm38) |
missense |
probably damaging |
1.00 |
R6313:Rlf
|
UTSW |
4 |
121,148,610 (GRCm38) |
missense |
probably damaging |
0.99 |
R6332:Rlf
|
UTSW |
4 |
121,148,822 (GRCm38) |
missense |
possibly damaging |
0.75 |
R6341:Rlf
|
UTSW |
4 |
121,149,360 (GRCm38) |
nonsense |
probably null |
|
R6413:Rlf
|
UTSW |
4 |
121,147,325 (GRCm38) |
missense |
probably damaging |
1.00 |
R6683:Rlf
|
UTSW |
4 |
121,147,926 (GRCm38) |
missense |
probably damaging |
1.00 |
R7066:Rlf
|
UTSW |
4 |
121,148,787 (GRCm38) |
missense |
probably benign |
|
R7413:Rlf
|
UTSW |
4 |
121,150,100 (GRCm38) |
missense |
probably damaging |
1.00 |
R7641:Rlf
|
UTSW |
4 |
121,159,196 (GRCm38) |
missense |
probably damaging |
1.00 |
R7855:Rlf
|
UTSW |
4 |
121,182,691 (GRCm38) |
missense |
possibly damaging |
0.93 |
R8127:Rlf
|
UTSW |
4 |
121,147,896 (GRCm38) |
missense |
possibly damaging |
0.89 |
R8146:Rlf
|
UTSW |
4 |
121,147,232 (GRCm38) |
missense |
probably benign |
0.16 |
R8182:Rlf
|
UTSW |
4 |
121,150,905 (GRCm38) |
missense |
possibly damaging |
0.94 |
R8350:Rlf
|
UTSW |
4 |
121,170,757 (GRCm38) |
missense |
probably damaging |
0.98 |
R8375:Rlf
|
UTSW |
4 |
121,148,335 (GRCm38) |
missense |
probably damaging |
0.96 |
R8754:Rlf
|
UTSW |
4 |
121,146,813 (GRCm38) |
missense |
possibly damaging |
0.90 |
R8837:Rlf
|
UTSW |
4 |
121,188,235 (GRCm38) |
missense |
probably benign |
0.06 |
R8901:Rlf
|
UTSW |
4 |
121,146,813 (GRCm38) |
missense |
possibly damaging |
0.90 |
R9054:Rlf
|
UTSW |
4 |
121,150,587 (GRCm38) |
missense |
possibly damaging |
0.47 |
R9090:Rlf
|
UTSW |
4 |
121,147,554 (GRCm38) |
missense |
probably benign |
|
R9144:Rlf
|
UTSW |
4 |
121,146,703 (GRCm38) |
missense |
probably benign |
0.16 |
R9265:Rlf
|
UTSW |
4 |
121,150,290 (GRCm38) |
missense |
possibly damaging |
0.63 |
R9271:Rlf
|
UTSW |
4 |
121,147,554 (GRCm38) |
missense |
probably benign |
|
R9549:Rlf
|
UTSW |
4 |
121,148,123 (GRCm38) |
missense |
probably damaging |
1.00 |
R9550:Rlf
|
UTSW |
4 |
121,146,423 (GRCm38) |
missense |
probably damaging |
1.00 |
R9570:Rlf
|
UTSW |
4 |
121,149,890 (GRCm38) |
missense |
possibly damaging |
0.90 |
R9627:Rlf
|
UTSW |
4 |
121,149,805 (GRCm38) |
nonsense |
probably null |
|
R9652:Rlf
|
UTSW |
4 |
121,150,668 (GRCm38) |
missense |
probably damaging |
1.00 |
Z1176:Rlf
|
UTSW |
4 |
121,150,428 (GRCm38) |
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'- TGGGACAGAAAGTGGTACTTATTTC -3'
|
Posted On |
2019-10-24 |