Incidental Mutation 'R7241:Rptn'
ID |
563183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rptn
|
Ensembl Gene |
ENSMUSG00000041984 |
Gene Name |
repetin |
Synonyms |
|
MMRRC Submission |
045348-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.128)
|
Stock # |
R7241 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
93301006-93306749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93303261 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 198
(E198G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
AlphaFold |
P97347 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045912
AA Change: E198G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000044998 Gene: ENSMUSG00000041984 AA Change: E198G
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca14 |
A |
G |
7: 119,846,184 (GRCm39) |
T612A |
probably damaging |
Het |
Acacb |
G |
A |
5: 114,383,161 (GRCm39) |
A2115T |
possibly damaging |
Het |
Adam32 |
T |
C |
8: 25,388,510 (GRCm39) |
K398R |
probably benign |
Het |
Adam9 |
T |
A |
8: 25,441,002 (GRCm39) |
I824F |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,986,395 (GRCm39) |
I2560V |
possibly damaging |
Het |
Ank3 |
G |
A |
10: 69,542,644 (GRCm39) |
M1I |
probably null |
Het |
Anks1b |
T |
G |
10: 90,348,699 (GRCm39) |
I789S |
probably damaging |
Het |
Ap2b1 |
T |
A |
11: 83,241,931 (GRCm39) |
N641K |
probably benign |
Het |
Arhgap33 |
A |
G |
7: 30,228,146 (GRCm39) |
L412P |
probably damaging |
Het |
Atp13a3 |
T |
A |
16: 30,171,095 (GRCm39) |
M317L |
possibly damaging |
Het |
B4galt5 |
A |
G |
2: 167,148,617 (GRCm39) |
L167P |
probably damaging |
Het |
Bace2 |
T |
C |
16: 97,237,998 (GRCm39) |
I483T |
possibly damaging |
Het |
C2cd3 |
A |
C |
7: 100,056,257 (GRCm39) |
K177T |
|
Het |
Ccr4 |
T |
C |
9: 114,322,024 (GRCm39) |
T14A |
probably benign |
Het |
Cep250 |
A |
T |
2: 155,833,472 (GRCm39) |
H1799L |
probably benign |
Het |
Cgnl1 |
T |
C |
9: 71,632,052 (GRCm39) |
Q433R |
probably benign |
Het |
Copb1 |
C |
T |
7: 113,836,591 (GRCm39) |
V384M |
probably damaging |
Het |
Cyp2c50 |
T |
A |
19: 40,079,012 (GRCm39) |
N118K |
probably benign |
Het |
Cyp4a32 |
A |
G |
4: 115,459,499 (GRCm39) |
I78V |
probably benign |
Het |
Cyth4 |
A |
G |
15: 78,491,245 (GRCm39) |
K108R |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,986,896 (GRCm39) |
H3632R |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,542,856 (GRCm39) |
I540V |
probably benign |
Het |
Dock4 |
A |
G |
12: 40,844,859 (GRCm39) |
Y1174C |
probably damaging |
Het |
Drd5 |
A |
G |
5: 38,477,879 (GRCm39) |
T291A |
probably damaging |
Het |
Eeig1 |
A |
G |
2: 32,448,076 (GRCm39) |
R62G |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,148,415 (GRCm39) |
N2611S |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,622,529 (GRCm39) |
I133T |
probably benign |
Het |
Fhod3 |
A |
G |
18: 25,193,409 (GRCm39) |
E640G |
probably damaging |
Het |
Flvcr2 |
T |
A |
12: 85,852,013 (GRCm39) |
D522E |
probably benign |
Het |
Ganc |
T |
A |
2: 120,272,010 (GRCm39) |
I556K |
probably damaging |
Het |
Gjc2 |
T |
A |
11: 59,067,960 (GRCm39) |
E174V |
unknown |
Het |
Gzmd |
G |
A |
14: 56,368,799 (GRCm39) |
R32C |
probably damaging |
Het |
Hltf |
T |
A |
3: 20,119,556 (GRCm39) |
H200Q |
probably benign |
Het |
Ift88 |
A |
G |
14: 57,717,454 (GRCm39) |
I559M |
probably damaging |
Het |
Ighv1-62-1 |
C |
A |
12: 115,350,322 (GRCm39) |
C115F |
probably damaging |
Het |
Impdh2 |
A |
G |
9: 108,440,636 (GRCm39) |
N279S |
possibly damaging |
Het |
Itpr1 |
T |
C |
6: 108,494,581 (GRCm39) |
|
probably null |
Het |
Kansl1l |
T |
C |
1: 66,840,787 (GRCm39) |
N171S |
possibly damaging |
Het |
Kif14 |
T |
A |
1: 136,396,491 (GRCm39) |
C266S |
probably benign |
Het |
Kif19b |
A |
G |
5: 140,447,943 (GRCm39) |
T137A |
probably damaging |
Het |
Lrriq1 |
A |
C |
10: 103,051,834 (GRCm39) |
V306G |
probably damaging |
Het |
Mast4 |
G |
A |
13: 103,470,508 (GRCm39) |
R65W |
possibly damaging |
Het |
Mex3d |
T |
C |
10: 80,223,091 (GRCm39) |
D55G |
|
Het |
Mrps27 |
A |
T |
13: 99,547,788 (GRCm39) |
K233* |
probably null |
Het |
Myo1f |
A |
G |
17: 33,798,902 (GRCm39) |
N189S |
probably damaging |
Het |
Nbn |
A |
T |
4: 15,991,190 (GRCm39) |
K729N |
probably benign |
Het |
Or1e35 |
T |
C |
11: 73,798,058 (GRCm39) |
S87G |
probably benign |
Het |
Or8k35 |
C |
A |
2: 86,424,498 (GRCm39) |
V225F |
possibly damaging |
Het |
Pgghg |
T |
C |
7: 140,525,633 (GRCm39) |
S479P |
|
Het |
Plaat5 |
A |
G |
19: 7,591,946 (GRCm39) |
T121A |
probably benign |
Het |
Polr1e |
A |
C |
4: 45,029,340 (GRCm39) |
H315P |
probably damaging |
Het |
Pou6f2 |
A |
G |
13: 18,299,874 (GRCm39) |
V595A |
|
Het |
Prdm15 |
T |
C |
16: 97,596,941 (GRCm39) |
D960G |
possibly damaging |
Het |
Prkcz |
A |
T |
4: 155,353,516 (GRCm39) |
M460K |
probably benign |
Het |
Prkd2 |
G |
T |
7: 16,591,730 (GRCm39) |
R587L |
probably benign |
Het |
Prkn |
C |
A |
17: 12,073,748 (GRCm39) |
N355K |
possibly damaging |
Het |
Rabep1 |
C |
A |
11: 70,830,815 (GRCm39) |
T829N |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,680,799 (GRCm39) |
I3182N |
possibly damaging |
Het |
Sectm1a |
T |
A |
11: 120,960,708 (GRCm39) |
I36F |
possibly damaging |
Het |
Sez6l |
T |
C |
5: 112,621,346 (GRCm39) |
S243G |
probably benign |
Het |
Spata31h1 |
T |
C |
10: 82,122,876 (GRCm39) |
E3378G |
probably benign |
Het |
Taf2 |
T |
A |
15: 54,925,537 (GRCm39) |
H235L |
probably benign |
Het |
Tbc1d7 |
T |
C |
13: 43,306,493 (GRCm39) |
Q161R |
probably benign |
Het |
Tfcp2 |
T |
C |
15: 100,416,468 (GRCm39) |
T271A |
possibly damaging |
Het |
Thrsp |
G |
T |
7: 97,066,295 (GRCm39) |
T139K |
probably damaging |
Het |
Timm10 |
T |
A |
2: 84,660,333 (GRCm39) |
*91R |
probably null |
Het |
Tlr11 |
T |
A |
14: 50,599,598 (GRCm39) |
I528N |
possibly damaging |
Het |
Tnnt2 |
T |
A |
1: 135,779,444 (GRCm39) |
L278Q |
probably damaging |
Het |
Toe1 |
A |
T |
4: 116,664,715 (GRCm39) |
M1K |
probably null |
Het |
Trpv5 |
G |
A |
6: 41,652,242 (GRCm39) |
R148* |
probably null |
Het |
Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,783,550 (GRCm39) |
V860A |
unknown |
Het |
Txnip |
T |
C |
3: 96,466,991 (GRCm39) |
Y222H |
probably damaging |
Het |
Ubr4 |
G |
A |
4: 139,170,725 (GRCm39) |
S1600N |
probably damaging |
Het |
Uhrf1 |
T |
C |
17: 56,622,193 (GRCm39) |
Y364H |
probably damaging |
Het |
Unc5a |
A |
T |
13: 55,138,833 (GRCm39) |
T71S |
probably damaging |
Het |
Vmn1r123 |
A |
T |
7: 20,896,537 (GRCm39) |
Y143F |
possibly damaging |
Het |
Vmn1r180 |
T |
A |
7: 23,651,891 (GRCm39) |
I18N |
probably damaging |
Het |
Washc2 |
A |
G |
6: 116,185,168 (GRCm39) |
M1V |
probably null |
Het |
Zfp174 |
C |
A |
16: 3,666,111 (GRCm39) |
H125Q |
probably benign |
Het |
Zfpl1 |
T |
C |
19: 6,131,943 (GRCm39) |
H227R |
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 |
R6393:Rptn
|
UTSW |
3 |
93,304,506 (GRCm39) |
missense |
probably benign |
|
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 |
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'- TTCAGAAAGCACAGGCAGAC -3'
(R):5'- ATCTTCCAGACTGACCATGAC -3'
Sequencing Primer
(F):5'- AGGAGAACGCCGGAACTCTC -3'
(R):5'- AGACTGACCATGACTGCTTTG -3'
|
Posted On |
2019-06-26 |