Incidental Mutation 'R4870:Rptn'
ID |
376483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rptn
|
Ensembl Gene |
ENSMUSG00000041984 |
Gene Name |
repetin |
Synonyms |
|
MMRRC Submission |
042480-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R4870 (G1)
|
Quality Score |
167 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93301006-93306749 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 93303776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 370
(K370*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
AlphaFold |
P97347 |
Predicted Effect |
probably null
Transcript: ENSMUST00000045912
AA Change: K370*
|
SMART Domains |
Protein: ENSMUSP00000044998 Gene: ENSMUSG00000041984 AA Change: K370*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
100% (77/77) |
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
T |
2: 69,069,540 (GRCm39) |
I1285N |
probably damaging |
Het |
Abcc8 |
G |
A |
7: 45,756,683 (GRCm39) |
R721* |
probably null |
Het |
Alox8 |
T |
C |
11: 69,077,394 (GRCm39) |
Y423C |
probably damaging |
Het |
Ankle2 |
T |
A |
5: 110,399,344 (GRCm39) |
|
probably null |
Het |
Cdc14a |
A |
G |
3: 116,217,109 (GRCm39) |
I9T |
probably benign |
Het |
Ceacam18 |
T |
C |
7: 43,291,328 (GRCm39) |
C257R |
probably damaging |
Het |
Cilp |
T |
C |
9: 65,186,980 (GRCm39) |
V1025A |
probably damaging |
Het |
Clcn7 |
G |
T |
17: 25,372,539 (GRCm39) |
|
probably benign |
Het |
Csnk1d |
A |
T |
11: 120,874,014 (GRCm39) |
|
probably benign |
Het |
Cyp11b2 |
A |
G |
15: 74,724,995 (GRCm39) |
S285P |
probably benign |
Het |
Dip2b |
T |
A |
15: 100,093,665 (GRCm39) |
|
probably null |
Het |
Dmrt1 |
T |
A |
19: 25,483,219 (GRCm39) |
M1K |
probably null |
Het |
Dnajc14 |
T |
C |
10: 128,653,219 (GRCm39) |
V684A |
probably benign |
Het |
Dnmt3b |
A |
G |
2: 153,512,284 (GRCm39) |
Q335R |
probably benign |
Het |
Exoc3l2 |
T |
A |
7: 19,229,117 (GRCm39) |
C772S |
unknown |
Het |
F2rl1 |
A |
T |
13: 95,650,492 (GRCm39) |
F130Y |
probably damaging |
Het |
Galk2 |
C |
G |
2: 125,771,557 (GRCm39) |
S194* |
probably null |
Het |
Garre1 |
C |
A |
7: 33,984,312 (GRCm39) |
V104L |
possibly damaging |
Het |
Gpbp1l1 |
A |
G |
4: 116,430,714 (GRCm39) |
T62A |
probably benign |
Het |
H2-Q10 |
A |
T |
17: 35,781,357 (GRCm39) |
D53V |
probably damaging |
Het |
H2-T22 |
T |
C |
17: 36,349,924 (GRCm39) |
K356R |
probably benign |
Het |
Insrr |
G |
A |
3: 87,718,911 (GRCm39) |
V956M |
probably damaging |
Het |
Ints7 |
A |
G |
1: 191,328,443 (GRCm39) |
T239A |
probably damaging |
Het |
Isl1 |
A |
G |
13: 116,444,806 (GRCm39) |
|
probably benign |
Het |
Kcng2 |
A |
G |
18: 80,366,083 (GRCm39) |
C90R |
probably benign |
Het |
Kif3c |
C |
T |
12: 3,451,735 (GRCm39) |
P171S |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,911,994 (GRCm39) |
T1704A |
probably benign |
Het |
Lats1 |
A |
G |
10: 7,581,549 (GRCm39) |
Y778C |
probably damaging |
Het |
Limd2 |
T |
C |
11: 106,050,215 (GRCm39) |
M1V |
probably null |
Het |
Mcm10 |
A |
T |
2: 5,008,970 (GRCm39) |
I333N |
probably damaging |
Het |
Mipep |
T |
A |
14: 61,040,329 (GRCm39) |
L283* |
probably null |
Het |
Mixl1 |
A |
G |
1: 180,522,237 (GRCm39) |
S215P |
probably benign |
Het |
Mmp21 |
A |
G |
7: 133,280,406 (GRCm39) |
L188P |
probably damaging |
Het |
Mob1a |
T |
C |
6: 83,317,221 (GRCm39) |
S213P |
probably benign |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Ndufaf6 |
T |
C |
4: 11,060,917 (GRCm39) |
T220A |
probably benign |
Het |
Nr4a3 |
A |
T |
4: 48,051,651 (GRCm39) |
Y135F |
possibly damaging |
Het |
Ntn1 |
CCTTCTTCT |
CCTTCT |
11: 68,103,852 (GRCm39) |
|
probably benign |
Het |
Obscn |
A |
T |
11: 59,027,032 (GRCm39) |
L57Q |
probably damaging |
Het |
Or52e19b |
T |
A |
7: 103,032,840 (GRCm39) |
D123V |
probably damaging |
Het |
Or5d35 |
T |
C |
2: 87,855,804 (GRCm39) |
L246P |
probably damaging |
Het |
Pirb |
T |
A |
7: 3,715,661 (GRCm39) |
M839L |
probably benign |
Het |
Plcl2 |
A |
G |
17: 50,914,254 (GRCm39) |
E421G |
possibly damaging |
Het |
Ppp1r12b |
T |
C |
1: 134,876,771 (GRCm39) |
N99S |
probably benign |
Het |
Ptpro |
A |
G |
6: 137,354,130 (GRCm39) |
K169E |
probably damaging |
Het |
Rita1 |
T |
A |
5: 120,749,448 (GRCm39) |
K88N |
probably damaging |
Het |
Simc1 |
A |
G |
13: 54,687,576 (GRCm39) |
D115G |
probably null |
Het |
Stab1 |
T |
A |
14: 30,864,000 (GRCm39) |
N136I |
probably benign |
Het |
Syt4 |
T |
A |
18: 31,580,409 (GRCm39) |
|
probably benign |
Het |
Sytl2 |
A |
T |
7: 90,038,106 (GRCm39) |
N522I |
probably damaging |
Het |
Tax1bp1 |
A |
G |
6: 52,706,478 (GRCm39) |
|
probably benign |
Het |
Tenm2 |
A |
T |
11: 35,969,396 (GRCm39) |
D847E |
probably damaging |
Het |
Th |
G |
T |
7: 142,447,834 (GRCm39) |
D321E |
probably benign |
Het |
Tmem44 |
A |
T |
16: 30,359,591 (GRCm39) |
L46Q |
probably damaging |
Het |
Trp53bp1 |
A |
G |
2: 121,087,122 (GRCm39) |
L178P |
probably damaging |
Het |
Trp63 |
A |
G |
16: 25,684,968 (GRCm39) |
*285W |
probably null |
Het |
Tsen34 |
T |
C |
7: 3,697,380 (GRCm39) |
|
probably benign |
Het |
Tssk4 |
C |
T |
14: 55,889,272 (GRCm39) |
T256I |
probably benign |
Het |
Ttc17 |
A |
T |
2: 94,196,954 (GRCm39) |
N464K |
probably damaging |
Het |
Ttll2 |
C |
T |
17: 7,618,998 (GRCm39) |
V310I |
probably benign |
Het |
Ubn1 |
A |
G |
16: 4,895,177 (GRCm39) |
E741G |
probably damaging |
Het |
Urad |
T |
A |
5: 147,252,264 (GRCm39) |
I63F |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,852,858 (GRCm39) |
T701A |
probably benign |
Het |
Vmn2r58 |
A |
G |
7: 41,486,639 (GRCm39) |
V752A |
possibly damaging |
Het |
Vmn2r69 |
C |
A |
7: 85,060,793 (GRCm39) |
V264L |
possibly damaging |
Het |
Zfp292 |
A |
G |
4: 34,808,917 (GRCm39) |
S1376P |
probably damaging |
Het |
Zfp955a |
G |
A |
17: 33,460,699 (GRCm39) |
R478* |
probably null |
Het |
Znfx1 |
A |
C |
2: 166,897,189 (GRCm39) |
F578L |
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 |
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'- TTCATACCATGAGCAGACAGAGG -3'
(R):5'- GAGAACTCTGGTCTTGCCTG -3'
Sequencing Primer
(F):5'- GGACAAGGTCAGAGTTTCCATTATG -3'
(R):5'- GCCTTTCTGACCCTGGTGG -3'
|
Posted On |
2016-03-17 |