Incidental Mutation 'R7337:Rptn'
ID |
569554 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rptn
|
Ensembl Gene |
ENSMUSG00000041984 |
Gene Name |
repetin |
Synonyms |
|
MMRRC Submission |
045427-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R7337 (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 T
at 93304212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 515
(D515V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
AlphaFold |
P97347 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000045912
AA Change: D515V
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000044998 Gene: ENSMUSG00000041984 AA Change: D515V
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (88/88) |
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 88 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,076,113 (GRCm39) |
H1198Q |
probably damaging |
Het |
Adamts14 |
A |
G |
10: 61,043,239 (GRCm39) |
V743A |
probably damaging |
Het |
Adgrg6 |
A |
G |
10: 14,343,095 (GRCm39) |
V284A |
possibly damaging |
Het |
Alb |
A |
G |
5: 90,622,452 (GRCm39) |
K560R |
probably damaging |
Het |
Aqp9 |
A |
T |
9: 71,069,764 (GRCm39) |
F8L |
probably benign |
Het |
Arhgef7 |
T |
C |
8: 11,835,789 (GRCm39) |
L182P |
probably damaging |
Het |
Atr |
A |
G |
9: 95,753,501 (GRCm39) |
D701G |
probably damaging |
Het |
Calr3 |
C |
T |
8: 73,185,339 (GRCm39) |
D187N |
probably damaging |
Het |
Ccdc198 |
A |
G |
14: 49,471,948 (GRCm39) |
M163T |
possibly damaging |
Het |
Ccdc65 |
A |
G |
15: 98,618,977 (GRCm39) |
T319A |
probably benign |
Het |
Ccdc66 |
A |
T |
14: 27,222,290 (GRCm39) |
L151H |
probably damaging |
Het |
Ces2e |
T |
A |
8: 105,657,688 (GRCm39) |
|
probably null |
Het |
Cfap46 |
A |
G |
7: 139,210,492 (GRCm39) |
|
probably null |
Het |
Cfap74 |
A |
G |
4: 155,544,472 (GRCm39) |
T1034A |
unknown |
Het |
Cldnd1 |
T |
G |
16: 58,549,322 (GRCm39) |
|
probably null |
Het |
Clec4f |
C |
A |
6: 83,630,190 (GRCm39) |
V123L |
probably benign |
Het |
Cntn6 |
C |
T |
6: 104,627,491 (GRCm39) |
T108I |
probably damaging |
Het |
Crygn |
T |
G |
5: 24,961,147 (GRCm39) |
D53A |
possibly damaging |
Het |
Cyp27a1 |
T |
A |
1: 74,774,594 (GRCm39) |
V204E |
probably damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,597,708 (GRCm39) |
|
probably null |
Het |
Ddb1 |
T |
C |
19: 10,605,195 (GRCm39) |
V1061A |
possibly damaging |
Het |
Dnah12 |
G |
T |
14: 26,488,534 (GRCm39) |
|
probably null |
Het |
Draxin |
T |
C |
4: 148,197,216 (GRCm39) |
T194A |
probably benign |
Het |
Drosha |
T |
A |
15: 12,846,285 (GRCm39) |
D473E |
possibly damaging |
Het |
Ecpas |
T |
C |
4: 58,827,047 (GRCm39) |
T1029A |
possibly damaging |
Het |
G6pd2 |
T |
A |
5: 61,967,562 (GRCm39) |
C446S |
probably benign |
Het |
Gm29106 |
C |
T |
1: 118,104,642 (GRCm39) |
S3L |
unknown |
Het |
Grin3a |
T |
C |
4: 49,702,762 (GRCm39) |
Y908C |
probably damaging |
Het |
Ints2 |
G |
A |
11: 86,108,668 (GRCm39) |
A893V |
probably benign |
Het |
Ippk |
C |
T |
13: 49,602,767 (GRCm39) |
T371I |
probably benign |
Het |
Irf2 |
T |
A |
8: 47,260,316 (GRCm39) |
C83S |
probably damaging |
Het |
Jph3 |
C |
T |
8: 122,480,441 (GRCm39) |
A373V |
probably benign |
Het |
Kcnj6 |
C |
T |
16: 94,634,073 (GRCm39) |
V13I |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,640,097 (GRCm39) |
|
probably null |
Het |
Lmo7 |
A |
T |
14: 102,121,640 (GRCm39) |
Q235L |
probably damaging |
Het |
Marchf7 |
A |
G |
2: 60,071,189 (GRCm39) |
|
probably null |
Het |
Mfsd6l |
A |
T |
11: 68,448,109 (GRCm39) |
Y320F |
possibly damaging |
Het |
Mroh1 |
T |
A |
15: 76,335,676 (GRCm39) |
W1440R |
probably benign |
Het |
Mrps17 |
G |
A |
5: 129,793,863 (GRCm39) |
G19D |
probably damaging |
Het |
Myt1 |
A |
G |
2: 181,444,756 (GRCm39) |
H566R |
possibly damaging |
Het |
Nav2 |
T |
C |
7: 49,201,521 (GRCm39) |
L176P |
possibly damaging |
Het |
Nop58 |
T |
A |
1: 59,737,599 (GRCm39) |
C139S |
probably benign |
Het |
Nsd1 |
A |
G |
13: 55,394,022 (GRCm39) |
D644G |
probably damaging |
Het |
Nsd2 |
T |
A |
5: 34,042,816 (GRCm39) |
C1027S |
probably damaging |
Het |
Nsmce2 |
A |
G |
15: 59,473,265 (GRCm39) |
I235V |
probably damaging |
Het |
Nyap2 |
T |
C |
1: 81,314,230 (GRCm39) |
V642A |
possibly damaging |
Het |
Or14n1-ps1 |
A |
T |
7: 86,092,328 (GRCm39) |
L46F |
unknown |
Het |
Or8g51 |
A |
G |
9: 38,609,161 (GRCm39) |
V167A |
probably benign |
Het |
Paqr7 |
A |
G |
4: 134,234,431 (GRCm39) |
D96G |
probably benign |
Het |
Parp4 |
A |
G |
14: 56,839,852 (GRCm39) |
Y520C |
probably damaging |
Het |
Pde5a |
A |
G |
3: 122,542,107 (GRCm39) |
N199S |
probably damaging |
Het |
Piezo1 |
A |
T |
8: 123,212,463 (GRCm39) |
Y1955N |
|
Het |
Pnma8a |
A |
G |
7: 16,695,315 (GRCm39) |
K390R |
probably benign |
Het |
Prdm10 |
G |
T |
9: 31,227,537 (GRCm39) |
Q47H |
probably damaging |
Het |
Psg22 |
T |
A |
7: 18,453,499 (GRCm39) |
F104I |
probably benign |
Het |
Ptprf |
T |
C |
4: 118,068,322 (GRCm39) |
E1738G |
probably damaging |
Het |
Rad21l |
A |
T |
2: 151,500,365 (GRCm39) |
L218Q |
probably damaging |
Het |
Rad54l2 |
A |
G |
9: 106,583,024 (GRCm39) |
I798T |
probably damaging |
Het |
Rgs5 |
G |
T |
1: 169,483,149 (GRCm39) |
M1I |
probably null |
Het |
Rhbdl2 |
T |
C |
4: 123,711,659 (GRCm39) |
V132A |
possibly damaging |
Het |
Rmi1 |
T |
A |
13: 58,557,393 (GRCm39) |
Y547* |
probably null |
Het |
Rsph10b |
A |
G |
5: 143,898,033 (GRCm39) |
N505D |
probably benign |
Het |
Samhd1 |
T |
C |
2: 156,948,164 (GRCm39) |
D539G |
probably damaging |
Het |
Scube3 |
A |
T |
17: 28,387,156 (GRCm39) |
I885F |
probably damaging |
Het |
Sfmbt1 |
A |
G |
14: 30,506,696 (GRCm39) |
I247V |
possibly damaging |
Het |
Slc25a21 |
T |
C |
12: 56,904,828 (GRCm39) |
I62V |
probably benign |
Het |
Slc4a11 |
T |
A |
2: 130,527,452 (GRCm39) |
N648Y |
probably damaging |
Het |
Slc7a11 |
A |
G |
3: 50,397,448 (GRCm39) |
V88A |
possibly damaging |
Het |
Slc7a8 |
A |
C |
14: 54,964,263 (GRCm39) |
F397V |
possibly damaging |
Het |
Sox12 |
A |
C |
2: 152,239,377 (GRCm39) |
L81R |
probably damaging |
Het |
Spg11 |
T |
C |
2: 121,915,474 (GRCm39) |
I1057V |
probably benign |
Het |
St8sia3 |
G |
A |
18: 64,402,987 (GRCm39) |
V265I |
probably benign |
Het |
Stxbp5 |
A |
G |
10: 9,684,874 (GRCm39) |
S509P |
possibly damaging |
Het |
Svep1 |
T |
C |
4: 58,108,323 (GRCm39) |
Y1129C |
probably damaging |
Het |
Tenm4 |
G |
T |
7: 96,523,333 (GRCm39) |
R1625L |
probably benign |
Het |
Tlr4 |
T |
C |
4: 66,758,191 (GRCm39) |
F328S |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,868,164 (GRCm39) |
T215A |
probably benign |
Het |
Tmprss9 |
A |
T |
10: 80,718,504 (GRCm39) |
I62L |
probably benign |
Het |
Trpm5 |
C |
T |
7: 142,642,756 (GRCm39) |
A64T |
probably benign |
Het |
Txk |
A |
C |
5: 72,889,109 (GRCm39) |
Y148* |
probably null |
Het |
Uba5 |
C |
T |
9: 103,932,454 (GRCm39) |
G170R |
possibly damaging |
Het |
Uggt2 |
A |
T |
14: 119,323,587 (GRCm39) |
D231E |
probably benign |
Het |
Ulk4 |
A |
T |
9: 121,077,993 (GRCm39) |
D525E |
probably benign |
Het |
Vmn1r158 |
T |
A |
7: 22,489,649 (GRCm39) |
T187S |
probably benign |
Het |
Vmn1r52 |
T |
A |
6: 90,156,605 (GRCm39) |
M303K |
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,356,044 (GRCm39) |
F454S |
probably benign |
Het |
Zbp1 |
A |
T |
2: 173,060,546 (GRCm39) |
L8* |
probably null |
Het |
Zmym2 |
A |
T |
14: 57,181,557 (GRCm39) |
D924V |
probably benign |
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 |
R7241:Rptn
|
UTSW |
3 |
93,303,261 (GRCm39) |
missense |
probably benign |
0.01 |
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'- GGCAAGACCAGAGTTCTCAC -3'
(R):5'- TCTCTGCCTGCCTGATCAAAATG -3'
Sequencing Primer
(F):5'- TTCTCACCAGGGTCAGAAAGGC -3'
(R):5'- ATGAAAACTCTGTCCTTGACTGTCTG -3'
|
Posted On |
2019-09-13 |