Incidental Mutation 'R6393:Rptn'
| ID |
515855 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rptn
|
| Ensembl Gene |
ENSMUSG00000041984 |
| Gene Name |
repetin |
| Synonyms |
|
| MMRRC Submission |
044542-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R6393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93301006-93306749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 93304506 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 613
(E613G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
| AlphaFold |
P97347 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045912
AA Change: E613G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: E613G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:S_100
|
4 |
46 |
3.2e-13 |
PFAM |
|
Blast:EFh
|
53 |
81 |
5e-10 |
BLAST |
|
low complexity region
|
189 |
204 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
252 |
N/A |
INTRINSIC |
|
Blast:CTD
|
318 |
461 |
1e-7 |
BLAST |
|
low complexity region
|
1007 |
1041 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195137
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 96.8%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A130010J15Rik |
A |
G |
1: 192,856,690 (GRCm39) |
Q14R |
possibly damaging |
Het |
| Adamts12 |
A |
G |
15: 11,255,721 (GRCm39) |
D430G |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,393,894 (GRCm39) |
|
probably null |
Het |
| Akirin1 |
T |
G |
4: 123,637,324 (GRCm39) |
Q87P |
possibly damaging |
Het |
| Ank2 |
G |
A |
3: 126,723,406 (GRCm39) |
R974C |
probably damaging |
Het |
| Arhgap23 |
A |
G |
11: 97,354,498 (GRCm39) |
I804V |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,130,527 (GRCm39) |
L437Q |
possibly damaging |
Het |
| Atp8a2 |
G |
T |
14: 60,011,204 (GRCm39) |
Y967* |
probably null |
Het |
| Calcr |
A |
G |
6: 3,708,586 (GRCm39) |
L200S |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,916,828 (GRCm39) |
V528D |
possibly damaging |
Het |
| Chd6 |
A |
G |
2: 160,821,407 (GRCm39) |
Y1296H |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,302,063 (GRCm39) |
R28C |
possibly damaging |
Het |
| Clrn1 |
A |
G |
3: 58,753,741 (GRCm39) |
F207L |
probably damaging |
Het |
| Col12a1 |
T |
C |
9: 79,562,767 (GRCm39) |
T1772A |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,360,491 (GRCm39) |
T1744A |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,037,218 (GRCm39) |
E655G |
probably damaging |
Het |
| Dnajb3 |
T |
A |
1: 88,133,384 (GRCm39) |
E6V |
possibly damaging |
Het |
| Dock5 |
G |
A |
14: 68,060,051 (GRCm39) |
P463S |
probably benign |
Het |
| Eif4a3l1 |
A |
G |
6: 136,305,596 (GRCm39) |
K19R |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,555,374 (GRCm39) |
C1128S |
probably benign |
Het |
| Fcrl5 |
G |
A |
3: 87,355,634 (GRCm39) |
G449E |
probably damaging |
Het |
| Frem2 |
G |
T |
3: 53,493,061 (GRCm39) |
N1818K |
possibly damaging |
Het |
| Gm21149 |
C |
A |
5: 15,678,037 (GRCm39) |
V187L |
possibly damaging |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Gstm7 |
A |
G |
3: 107,838,142 (GRCm39) |
|
probably null |
Het |
| Htr1b |
T |
A |
9: 81,513,810 (GRCm39) |
I266F |
probably benign |
Het |
| Jakmip3 |
T |
C |
7: 138,620,900 (GRCm39) |
I305T |
probably damaging |
Het |
| Kif13a |
C |
T |
13: 46,905,931 (GRCm39) |
V671M |
possibly damaging |
Het |
| Kifc5b |
T |
C |
17: 27,140,816 (GRCm39) |
C97R |
probably benign |
Het |
| Klhl30 |
A |
T |
1: 91,288,912 (GRCm39) |
H557L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,612,813 (GRCm39) |
V1199A |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,459,292 (GRCm39) |
L246P |
probably damaging |
Het |
| M6pr |
T |
C |
6: 122,292,339 (GRCm39) |
L178P |
possibly damaging |
Het |
| Med17 |
A |
G |
9: 15,185,879 (GRCm39) |
S212P |
probably damaging |
Het |
| Med23 |
T |
A |
10: 24,749,374 (GRCm39) |
S31T |
possibly damaging |
Het |
| Morc2b |
T |
G |
17: 33,356,750 (GRCm39) |
T341P |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,696,805 (GRCm39) |
M1V |
probably null |
Het |
| Mrpl17 |
T |
C |
7: 105,459,122 (GRCm39) |
H158R |
probably benign |
Het |
| Mstn |
A |
G |
1: 53,105,648 (GRCm39) |
Q330R |
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,558,695 (GRCm39) |
K2533* |
probably null |
Het |
| N4bp2 |
T |
C |
5: 65,948,344 (GRCm39) |
S325P |
possibly damaging |
Het |
| Nadk |
A |
G |
4: 155,673,808 (GRCm39) |
Y399C |
possibly damaging |
Het |
| Nbea |
A |
C |
3: 55,998,540 (GRCm39) |
L89R |
probably damaging |
Het |
| Ncoa1 |
A |
G |
12: 4,328,181 (GRCm39) |
F775L |
probably benign |
Het |
| Ndufa11 |
C |
A |
17: 57,028,331 (GRCm39) |
A70E |
probably damaging |
Het |
| Nfx1 |
A |
G |
4: 40,976,851 (GRCm39) |
Y175C |
possibly damaging |
Het |
| Or10q3 |
A |
T |
19: 11,848,091 (GRCm39) |
L163Q |
probably damaging |
Het |
| Or12e9 |
A |
G |
2: 87,201,909 (GRCm39) |
N11S |
probably damaging |
Het |
| Pcsk6 |
T |
C |
7: 65,618,762 (GRCm39) |
S443P |
probably damaging |
Het |
| Pcsk9 |
T |
C |
4: 106,304,793 (GRCm39) |
D425G |
probably benign |
Het |
| Pdcd1lg2 |
T |
A |
19: 29,414,698 (GRCm39) |
C42S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Rbm46 |
G |
A |
3: 82,771,262 (GRCm39) |
T451M |
probably benign |
Het |
| Rcan2 |
T |
A |
17: 44,264,370 (GRCm39) |
V10D |
probably benign |
Het |
| Rpl7l1 |
T |
C |
17: 47,093,548 (GRCm39) |
E4G |
probably benign |
Het |
| Sbk2 |
T |
C |
7: 4,960,621 (GRCm39) |
D183G |
probably damaging |
Het |
| Slc15a4 |
C |
T |
5: 127,693,950 (GRCm39) |
A162T |
probably benign |
Het |
| Slc30a4 |
A |
G |
2: 122,527,966 (GRCm39) |
W315R |
probably damaging |
Het |
| Slc39a14 |
G |
C |
14: 70,547,262 (GRCm39) |
F361L |
probably benign |
Het |
| Slc6a13 |
T |
C |
6: 121,313,801 (GRCm39) |
Y515H |
possibly damaging |
Het |
| Slitrk3 |
C |
A |
3: 72,957,247 (GRCm39) |
K508N |
possibly damaging |
Het |
| Stard4 |
T |
C |
18: 33,338,278 (GRCm39) |
D144G |
probably benign |
Het |
| Tlr9 |
T |
C |
9: 106,102,136 (GRCm39) |
F476L |
probably damaging |
Het |
| Tshz1 |
A |
T |
18: 84,031,345 (GRCm39) |
V1021D |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,304 (GRCm39) |
I73F |
probably benign |
Het |
| Vmn2r19 |
A |
C |
6: 123,293,112 (GRCm39) |
S385R |
possibly damaging |
Het |
| Xkr5 |
A |
G |
8: 18,998,716 (GRCm39) |
L34P |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,875,770 (GRCm39) |
V121A |
probably damaging |
Het |
| Zbtb40 |
T |
A |
4: 136,712,177 (GRCm39) |
H268L |
probably null |
Het |
| Zfp865 |
T |
C |
7: 5,033,065 (GRCm39) |
F350S |
probably damaging |
Het |
| Zscan4b |
T |
C |
7: 10,634,828 (GRCm39) |
I472V |
possibly damaging |
Het |
|
| Other mutations in Rptn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Rptn
|
APN |
3 |
93,304,489 (GRCm39) |
missense |
probably benign |
|
|
IGL01070:Rptn
|
APN |
3 |
93,305,483 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL01625:Rptn
|
APN |
3 |
93,305,201 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01678:Rptn
|
APN |
3 |
93,304,118 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01716:Rptn
|
APN |
3 |
93,304,017 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01767:Rptn
|
APN |
3 |
93,302,946 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01872:Rptn
|
APN |
3 |
93,304,154 (GRCm39) |
missense |
probably benign |
|
|
IGL02000:Rptn
|
APN |
3 |
93,303,735 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02066:Rptn
|
APN |
3 |
93,304,436 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02090:Rptn
|
APN |
3 |
93,304,041 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL02116:Rptn
|
APN |
3 |
93,302,404 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02216:Rptn
|
APN |
3 |
93,303,080 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
IGL02368:Rptn
|
APN |
3 |
93,304,478 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02820:Rptn
|
APN |
3 |
93,304,227 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03323:Rptn
|
APN |
3 |
93,304,460 (GRCm39) |
missense |
probably benign |
|
|
IGL03404:Rptn
|
APN |
3 |
93,305,436 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
D3080:Rptn
|
UTSW |
3 |
93,303,135 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
H8786:Rptn
|
UTSW |
3 |
93,305,180 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL03097:Rptn
|
UTSW |
3 |
93,304,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
LCD18:Rptn
|
UTSW |
3 |
93,304,848 (GRCm39) |
missense |
probably benign |
|
|
PIT4431001:Rptn
|
UTSW |
3 |
93,304,704 (GRCm39) |
small deletion |
probably benign |
|
|
PIT4480001:Rptn
|
UTSW |
3 |
93,304,977 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1024:Rptn
|
UTSW |
3 |
93,305,532 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1119:Rptn
|
UTSW |
3 |
93,303,552 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R1727:Rptn
|
UTSW |
3 |
93,304,445 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1901:Rptn
|
UTSW |
3 |
93,304,017 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2247:Rptn
|
UTSW |
3 |
93,304,136 (GRCm39) |
missense |
probably benign |
|
|
R2921:Rptn
|
UTSW |
3 |
93,306,015 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2922:Rptn
|
UTSW |
3 |
93,306,015 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R2923:Rptn
|
UTSW |
3 |
93,306,015 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R3901:Rptn
|
UTSW |
3 |
93,305,664 (GRCm39) |
missense |
probably benign |
|
|
R3936:Rptn
|
UTSW |
3 |
93,302,883 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R4304:Rptn
|
UTSW |
3 |
93,304,238 (GRCm39) |
missense |
probably benign |
0.33 |
|
R4491:Rptn
|
UTSW |
3 |
93,303,818 (GRCm39) |
nonsense |
probably null |
|
|
R4654:Rptn
|
UTSW |
3 |
93,304,792 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R4870:Rptn
|
UTSW |
3 |
93,303,776 (GRCm39) |
nonsense |
probably null |
|
|
R5246:Rptn
|
UTSW |
3 |
93,305,036 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5246:Rptn
|
UTSW |
3 |
93,304,140 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5544:Rptn
|
UTSW |
3 |
93,305,780 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5555:Rptn
|
UTSW |
3 |
93,304,008 (GRCm39) |
missense |
probably benign |
|
|
R5896:Rptn
|
UTSW |
3 |
93,305,639 (GRCm39) |
nonsense |
probably null |
|
|
R5956:Rptn
|
UTSW |
3 |
93,305,334 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6192:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6209:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6224:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6226:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6227:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6230:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6247:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6258:Rptn
|
UTSW |
3 |
93,305,437 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6513:Rptn
|
UTSW |
3 |
93,303,419 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6854:Rptn
|
UTSW |
3 |
93,305,430 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6855:Rptn
|
UTSW |
3 |
93,305,558 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6884:Rptn
|
UTSW |
3 |
93,303,096 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7018:Rptn
|
UTSW |
3 |
93,305,207 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7241:Rptn
|
UTSW |
3 |
93,303,261 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7337:Rptn
|
UTSW |
3 |
93,304,212 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7754:Rptn
|
UTSW |
3 |
93,303,228 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7794:Rptn
|
UTSW |
3 |
93,303,036 (GRCm39) |
missense |
probably benign |
|
|
R7801:Rptn
|
UTSW |
3 |
93,305,531 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8161:Rptn
|
UTSW |
3 |
93,304,000 (GRCm39) |
small deletion |
probably benign |
|
|
R8374:Rptn
|
UTSW |
3 |
93,303,602 (GRCm39) |
nonsense |
probably null |
|
|
R8671:Rptn
|
UTSW |
3 |
93,305,501 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8804:Rptn
|
UTSW |
3 |
93,303,150 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8934:Rptn
|
UTSW |
3 |
93,303,219 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8938:Rptn
|
UTSW |
3 |
93,302,332 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R9056:Rptn
|
UTSW |
3 |
93,304,412 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9082:Rptn
|
UTSW |
3 |
93,302,928 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9140:Rptn
|
UTSW |
3 |
93,303,445 (GRCm39) |
nonsense |
probably null |
|
|
R9310:Rptn
|
UTSW |
3 |
93,304,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9392:Rptn
|
UTSW |
3 |
93,305,721 (GRCm39) |
missense |
probably benign |
|
|
R9403:Rptn
|
UTSW |
3 |
93,302,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9564:Rptn
|
UTSW |
3 |
93,304,536 (GRCm39) |
missense |
probably benign |
|
|
R9748:Rptn
|
UTSW |
3 |
93,304,761 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
X0018:Rptn
|
UTSW |
3 |
93,303,248 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Rptn
|
UTSW |
3 |
93,304,734 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1176:Rptn
|
UTSW |
3 |
93,302,325 (GRCm39) |
missense |
probably benign |
0.26 |
|
Z1177:Rptn
|
UTSW |
3 |
93,305,194 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
Z1177:Rptn
|
UTSW |
3 |
93,303,019 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Rptn
|
UTSW |
3 |
93,302,950 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATTATGGTCAGACAGGTGG -3'
(R):5'- TTTCTGACCCTGGTGAGGAC -3'
Sequencing Primer
(F):5'- TGGACAAGGCCTGAGTTCTCAC -3'
(R):5'- TGAGGACTCAGGTCTTGCC -3'
|
| Posted On |
2018-05-04 |
Incidental Mutation