Incidental Mutation 'R4654:Rptn'
ID |
351521 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rptn
|
Ensembl Gene |
ENSMUSG00000041984 |
Gene Name |
repetin |
Synonyms |
|
MMRRC Submission |
041914-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R4654 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
93301006-93306749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93304792 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 708
(R708S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
AlphaFold |
P97347 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045912
AA Change: R708S
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000044998 Gene: ENSMUSG00000041984 AA Change: R708S
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: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
97% (98/101) |
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 90 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam3 |
A |
T |
8: 25,193,819 (GRCm39) |
C398S |
probably damaging |
Het |
Adamts10 |
A |
G |
17: 33,756,304 (GRCm39) |
K316E |
possibly damaging |
Het |
Ap1m1 |
T |
C |
8: 73,006,717 (GRCm39) |
F238L |
possibly damaging |
Het |
Aph1a |
T |
A |
3: 95,803,088 (GRCm39) |
D180E |
probably benign |
Het |
Atp9b |
A |
G |
18: 80,935,093 (GRCm39) |
F201L |
probably benign |
Het |
Btbd9 |
A |
C |
17: 30,704,561 (GRCm39) |
|
probably benign |
Het |
C2cd5 |
T |
C |
6: 142,975,910 (GRCm39) |
T768A |
probably benign |
Het |
Casq1 |
C |
T |
1: 172,037,965 (GRCm39) |
|
probably benign |
Het |
Cimap2 |
C |
A |
4: 106,467,612 (GRCm39) |
M341I |
probably benign |
Het |
Cltc |
A |
T |
11: 86,617,196 (GRCm39) |
M351K |
probably benign |
Het |
Cnp |
A |
G |
11: 100,469,877 (GRCm39) |
E271G |
possibly damaging |
Het |
Col22a1 |
T |
C |
15: 71,845,544 (GRCm39) |
D406G |
possibly damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,279 (GRCm39) |
S117P |
probably benign |
Het |
Cyp2b13 |
T |
C |
7: 25,761,072 (GRCm39) |
L43P |
probably damaging |
Het |
Cyp3a16 |
A |
G |
5: 145,373,267 (GRCm39) |
V500A |
probably benign |
Het |
Dclk2 |
T |
C |
3: 86,743,683 (GRCm39) |
D262G |
probably damaging |
Het |
Dcun1d3 |
A |
C |
7: 119,458,742 (GRCm39) |
Y98D |
probably damaging |
Het |
Ddx39b |
A |
G |
17: 35,472,464 (GRCm39) |
*429W |
probably null |
Het |
Dennd5b |
T |
C |
6: 148,908,335 (GRCm39) |
N986S |
probably damaging |
Het |
Dipk1a |
T |
C |
5: 108,057,982 (GRCm39) |
|
probably null |
Het |
Dusp9 |
G |
A |
X: 72,684,378 (GRCm39) |
R182Q |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,834,523 (GRCm39) |
I785N |
possibly damaging |
Het |
Edil3 |
A |
G |
13: 89,437,589 (GRCm39) |
K397E |
probably damaging |
Het |
Ehd1 |
T |
C |
19: 6,326,994 (GRCm39) |
|
probably benign |
Het |
Fam13a |
A |
T |
6: 58,964,152 (GRCm39) |
H93Q |
probably benign |
Het |
Farp1 |
T |
C |
14: 121,513,716 (GRCm39) |
I837T |
possibly damaging |
Het |
Fbxl5 |
T |
A |
5: 43,922,771 (GRCm39) |
I216F |
probably damaging |
Het |
Gadl1 |
G |
A |
9: 115,770,408 (GRCm39) |
E74K |
probably damaging |
Het |
Gnpnat1 |
A |
G |
14: 45,618,436 (GRCm39) |
V122A |
probably damaging |
Het |
Hdac10 |
C |
T |
15: 89,011,036 (GRCm39) |
|
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,128,130 (GRCm39) |
S502G |
possibly damaging |
Het |
Hr |
C |
A |
14: 70,801,013 (GRCm39) |
A695E |
probably damaging |
Het |
Ift80 |
A |
T |
3: 68,825,870 (GRCm39) |
I490N |
possibly damaging |
Het |
Ipo11 |
A |
G |
13: 106,970,692 (GRCm39) |
|
probably benign |
Het |
Iqch |
T |
G |
9: 63,432,195 (GRCm39) |
Y400S |
probably damaging |
Het |
Jag2 |
C |
T |
12: 112,877,266 (GRCm39) |
D702N |
probably benign |
Het |
Kiss1r |
T |
A |
10: 79,757,624 (GRCm39) |
L326Q |
probably damaging |
Het |
Lrrc42 |
A |
T |
4: 107,104,746 (GRCm39) |
I73N |
probably damaging |
Het |
Lrrc55 |
C |
T |
2: 85,026,880 (GRCm39) |
G48D |
possibly damaging |
Het |
Lrrk2 |
T |
C |
15: 91,649,884 (GRCm39) |
S1674P |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,739,942 (GRCm39) |
L816P |
probably damaging |
Het |
Mipol1 |
A |
T |
12: 57,352,918 (GRCm39) |
T86S |
probably benign |
Het |
Mkrn3 |
C |
T |
7: 62,069,452 (GRCm39) |
R113H |
probably damaging |
Het |
Mmp1b |
A |
G |
9: 7,370,849 (GRCm39) |
V302A |
probably benign |
Het |
Msc |
A |
T |
1: 14,826,053 (GRCm39) |
|
probably null |
Het |
Msmo1 |
C |
A |
8: 65,180,888 (GRCm39) |
V9L |
probably benign |
Het |
Nbeal2 |
G |
A |
9: 110,461,072 (GRCm39) |
R1630C |
probably damaging |
Het |
Nlgn1 |
C |
T |
3: 26,187,850 (GRCm39) |
V12I |
possibly damaging |
Het |
Npas3 |
T |
C |
12: 54,108,915 (GRCm39) |
|
probably null |
Het |
Nr2e3 |
A |
G |
9: 59,856,355 (GRCm39) |
|
probably benign |
Het |
Oca2 |
C |
T |
7: 55,978,560 (GRCm39) |
A576V |
probably benign |
Het |
Or5b21 |
T |
A |
19: 12,839,596 (GRCm39) |
C152* |
probably null |
Het |
Or6d12 |
T |
C |
6: 116,493,409 (GRCm39) |
Y224H |
probably damaging |
Het |
Or6z7 |
T |
C |
7: 6,484,045 (GRCm39) |
T37A |
probably benign |
Het |
Parp6 |
A |
G |
9: 59,548,383 (GRCm39) |
|
probably null |
Het |
Pate13 |
T |
A |
9: 35,820,287 (GRCm39) |
C4S |
probably damaging |
Het |
Phlpp1 |
A |
T |
1: 106,267,231 (GRCm39) |
M715L |
probably benign |
Het |
Pi4k2a |
G |
A |
19: 42,101,544 (GRCm39) |
|
probably null |
Het |
Pik3ap1 |
A |
G |
19: 41,316,348 (GRCm39) |
S305P |
probably damaging |
Het |
Plcg2 |
G |
A |
8: 118,231,054 (GRCm39) |
M45I |
probably benign |
Het |
Ppm1m |
A |
T |
9: 106,073,601 (GRCm39) |
L317H |
probably damaging |
Het |
Ppp1r21 |
T |
G |
17: 88,866,227 (GRCm39) |
M341R |
probably benign |
Het |
Prdx3 |
A |
G |
19: 60,853,674 (GRCm39) |
V217A |
possibly damaging |
Het |
Ptk2b |
A |
G |
14: 66,400,496 (GRCm39) |
V773A |
possibly damaging |
Het |
Raly |
T |
C |
2: 154,699,376 (GRCm39) |
V60A |
probably damaging |
Het |
Reps1 |
A |
G |
10: 17,990,148 (GRCm39) |
D420G |
probably damaging |
Het |
Rev1 |
A |
T |
1: 38,118,337 (GRCm39) |
|
probably benign |
Het |
Rgs2 |
T |
G |
1: 143,878,650 (GRCm39) |
|
probably benign |
Het |
Rlf |
G |
T |
4: 121,007,798 (GRCm39) |
T394K |
probably benign |
Het |
Sec23b |
T |
A |
2: 144,414,494 (GRCm39) |
M402K |
probably benign |
Het |
Skic2 |
A |
G |
17: 35,068,922 (GRCm39) |
C26R |
probably damaging |
Het |
Slx9 |
T |
C |
10: 77,325,860 (GRCm39) |
M170V |
possibly damaging |
Het |
Smpd4 |
A |
G |
16: 17,459,992 (GRCm39) |
|
probably benign |
Het |
Synj2 |
A |
G |
17: 6,063,813 (GRCm39) |
E434G |
probably damaging |
Het |
Tatdn2 |
T |
A |
6: 113,684,326 (GRCm39) |
F64I |
probably benign |
Het |
Tex21 |
A |
C |
12: 76,263,860 (GRCm39) |
H177Q |
probably benign |
Het |
Tln1 |
T |
A |
4: 43,535,954 (GRCm39) |
Q2077L |
probably null |
Het |
Tnrc6c |
T |
C |
11: 117,611,797 (GRCm39) |
V145A |
probably benign |
Het |
Ttn |
C |
T |
2: 76,616,936 (GRCm39) |
|
probably benign |
Het |
Uggt2 |
A |
G |
14: 119,269,670 (GRCm39) |
F954S |
possibly damaging |
Het |
Ugt2a1 |
A |
G |
5: 87,634,083 (GRCm39) |
S175P |
probably damaging |
Het |
Vcl |
A |
G |
14: 21,035,820 (GRCm39) |
|
probably null |
Het |
Vegfa |
A |
T |
17: 46,336,176 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
G |
A |
7: 84,882,769 (GRCm39) |
Q328* |
probably null |
Het |
Vmn2r7 |
A |
G |
3: 64,626,864 (GRCm39) |
Y142H |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,134,434 (GRCm39) |
G349R |
probably damaging |
Het |
Ybx3 |
G |
T |
6: 131,347,290 (GRCm39) |
R282S |
probably damaging |
Het |
Zfp566 |
T |
C |
7: 29,777,194 (GRCm39) |
H329R |
probably damaging |
Het |
Zfp786 |
T |
C |
6: 47,797,868 (GRCm39) |
I357V |
probably benign |
Het |
Zfr2 |
C |
A |
10: 81,087,083 (GRCm39) |
|
probably null |
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 |
|
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 |
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'- TTGGCATCAGACAGACAGGC -3'
(R):5'- TTGACCCTGGTGAGAACTCTGG -3'
Sequencing Primer
(F):5'- CCAGAGTTCTCAACAGGGTC -3'
(R):5'- GAGAACTCTGGTCTTGTCTGCC -3'
|
Posted On |
2015-10-08 |