Incidental Mutation 'IGL02232:Rlf'
ID |
285755 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rlf
|
Ensembl Gene |
ENSMUSG00000049878 |
Gene Name |
rearranged L-myc fusion sequence |
Synonyms |
9230110M18Rik, MommeD8 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02232
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
121003080-121072318 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 121039811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 200
(T200I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050825
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056635]
[ENSMUST00000168615]
|
AlphaFold |
A2A7F4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056635
AA Change: T200I
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000050825 Gene: ENSMUSG00000049878 AA Change: T200I
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 |
noncoding transcript
Transcript: ENSMUST00000142647
|
SMART Domains |
Protein: ENSMUSP00000116831 Gene: ENSMUSG00000049878
Domain | Start | End | E-Value | Type |
low complexity region
|
22 |
39 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168615
AA Change: T90I
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000127068 Gene: ENSMUSG00000049878 AA Change: T90I
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 |
|
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 |
1810030O07Rik |
A |
G |
X: 12,530,764 (GRCm39) |
V199A |
possibly damaging |
Het |
Aco1 |
T |
C |
4: 40,175,996 (GRCm39) |
M210T |
probably damaging |
Het |
Actr10 |
G |
A |
12: 70,990,289 (GRCm39) |
E114K |
probably benign |
Het |
Adam6b |
T |
C |
12: 113,454,764 (GRCm39) |
M527T |
probably benign |
Het |
Ahi1 |
C |
T |
10: 20,857,274 (GRCm39) |
T623M |
probably damaging |
Het |
Aldh8a1 |
T |
C |
10: 21,271,545 (GRCm39) |
W424R |
probably damaging |
Het |
Apeh |
A |
T |
9: 107,969,071 (GRCm39) |
S299T |
probably benign |
Het |
Bbs5 |
A |
C |
2: 69,485,895 (GRCm39) |
I147L |
probably benign |
Het |
Bmp2k |
T |
G |
5: 97,179,109 (GRCm39) |
|
probably benign |
Het |
C2cd6 |
A |
G |
1: 59,101,651 (GRCm39) |
F336S |
probably damaging |
Het |
Cd274 |
T |
A |
19: 29,359,938 (GRCm39) |
L248M |
probably damaging |
Het |
Chsy3 |
T |
A |
18: 59,542,383 (GRCm39) |
M507K |
possibly damaging |
Het |
Clip2 |
T |
C |
5: 134,531,984 (GRCm39) |
N572S |
probably damaging |
Het |
Commd9 |
A |
G |
2: 101,731,324 (GRCm39) |
T170A |
probably benign |
Het |
Cpt1c |
G |
A |
7: 44,609,580 (GRCm39) |
S674L |
probably damaging |
Het |
Dhx33 |
C |
A |
11: 70,878,030 (GRCm39) |
R671L |
probably damaging |
Het |
Dnah5 |
G |
A |
15: 28,299,386 (GRCm39) |
E1583K |
probably damaging |
Het |
Eed |
G |
T |
7: 89,621,493 (GRCm39) |
N51K |
probably damaging |
Het |
Efcab14 |
A |
G |
4: 115,617,261 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
A |
C |
4: 136,384,762 (GRCm39) |
M884R |
probably damaging |
Het |
Foxn2 |
G |
T |
17: 88,770,479 (GRCm39) |
A109S |
probably benign |
Het |
Fut1 |
A |
T |
7: 45,268,871 (GRCm39) |
D220V |
probably damaging |
Het |
Gm6468 |
C |
T |
5: 95,429,066 (GRCm39) |
|
noncoding transcript |
Het |
Gm7964 |
A |
T |
7: 83,405,515 (GRCm39) |
|
noncoding transcript |
Het |
Gm9772 |
C |
T |
17: 22,226,031 (GRCm39) |
|
probably benign |
Het |
Golph3 |
G |
T |
15: 12,349,578 (GRCm39) |
M199I |
probably benign |
Het |
Itpr1 |
A |
G |
6: 108,394,884 (GRCm39) |
N1666D |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,944,922 (GRCm39) |
T548A |
unknown |
Het |
Kif12 |
C |
T |
4: 63,084,732 (GRCm39) |
E529K |
probably benign |
Het |
Lpp |
C |
T |
16: 24,580,895 (GRCm39) |
R204W |
probably damaging |
Het |
Lrrc52 |
T |
A |
1: 167,293,949 (GRCm39) |
N112I |
probably damaging |
Het |
Msi1 |
T |
A |
5: 115,579,506 (GRCm39) |
|
probably null |
Het |
Nasp |
T |
G |
4: 116,461,997 (GRCm39) |
E170A |
probably damaging |
Het |
Necab2 |
T |
A |
8: 120,189,391 (GRCm39) |
V187E |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,929,804 (GRCm39) |
E5790G |
probably damaging |
Het |
Or7e176 |
A |
T |
9: 20,171,511 (GRCm39) |
D125V |
probably damaging |
Het |
Or9a7 |
A |
G |
6: 40,520,980 (GRCm39) |
L311P |
probably damaging |
Het |
Pard3b |
C |
T |
1: 62,205,541 (GRCm39) |
T445I |
probably damaging |
Het |
Pcdh10 |
A |
G |
3: 45,335,377 (GRCm39) |
I564V |
probably benign |
Het |
Pcdhb22 |
T |
A |
18: 37,653,602 (GRCm39) |
L690Q |
probably damaging |
Het |
Pemt |
T |
A |
11: 59,867,680 (GRCm39) |
T115S |
probably damaging |
Het |
Plcl2 |
A |
G |
17: 50,913,669 (GRCm39) |
N226S |
possibly damaging |
Het |
Ppp6r1 |
A |
G |
7: 4,636,341 (GRCm39) |
S750P |
probably damaging |
Het |
Prtg |
T |
C |
9: 72,758,771 (GRCm39) |
V375A |
probably damaging |
Het |
Psd3 |
A |
C |
8: 68,356,797 (GRCm39) |
M673R |
probably damaging |
Het |
Ptprt |
T |
C |
2: 161,372,437 (GRCm39) |
I1392V |
probably damaging |
Het |
Robo1 |
G |
A |
16: 72,768,872 (GRCm39) |
G479D |
possibly damaging |
Het |
Rpe65 |
A |
G |
3: 159,309,988 (GRCm39) |
D87G |
possibly damaging |
Het |
Sema3g |
T |
C |
14: 30,943,181 (GRCm39) |
V148A |
probably damaging |
Het |
Sgms2 |
G |
A |
3: 131,116,833 (GRCm39) |
P341S |
probably benign |
Het |
Skint7 |
A |
T |
4: 111,839,225 (GRCm39) |
Q173L |
possibly damaging |
Het |
Slc2a9 |
G |
A |
5: 38,594,013 (GRCm39) |
A150V |
probably benign |
Het |
Slc35c2 |
A |
G |
2: 165,124,801 (GRCm39) |
L58P |
probably damaging |
Het |
Slc7a6 |
G |
A |
8: 106,923,206 (GRCm39) |
C495Y |
possibly damaging |
Het |
Smurf1 |
G |
A |
5: 144,823,248 (GRCm39) |
P458L |
probably damaging |
Het |
Spag1 |
C |
T |
15: 36,221,710 (GRCm39) |
T601I |
probably benign |
Het |
Spink8 |
A |
T |
9: 109,649,665 (GRCm39) |
Q49L |
possibly damaging |
Het |
Spout1 |
A |
T |
2: 30,065,266 (GRCm39) |
Y284N |
probably damaging |
Het |
Srrm1 |
A |
T |
4: 135,080,427 (GRCm39) |
M1K |
probably null |
Het |
Stxbp5l |
A |
G |
16: 37,150,257 (GRCm39) |
L116P |
probably damaging |
Het |
Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
Tmem41b |
A |
G |
7: 109,577,960 (GRCm39) |
V108A |
probably damaging |
Het |
Tra2b |
A |
G |
16: 22,067,790 (GRCm39) |
|
probably benign |
Het |
Trio |
G |
T |
15: 27,902,647 (GRCm39) |
H271Q |
probably benign |
Het |
Ttn |
A |
G |
2: 76,723,263 (GRCm39) |
|
probably benign |
Het |
Usp51 |
A |
T |
X: 151,791,669 (GRCm39) |
H421L |
probably damaging |
Het |
Vmn2r29 |
A |
T |
7: 7,244,810 (GRCm39) |
W355R |
probably damaging |
Het |
Vpreb1a |
T |
C |
16: 16,686,603 (GRCm39) |
N96D |
possibly damaging |
Het |
Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
Zp3r |
C |
A |
1: 130,524,404 (GRCm39) |
C213F |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |