Incidental Mutation 'R8804:Rptn'
| ID |
671899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rptn
|
| Ensembl Gene |
ENSMUSG00000041984 |
| Gene Name |
repetin |
| Synonyms |
|
| MMRRC Submission |
068641-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R8804 (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 93303150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 161
(D161V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
| AlphaFold |
P97347 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045912
AA Change: D161V
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: D161V
| 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: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,820 (GRCm39) |
|
probably benign |
Het |
| Adamts1 |
A |
G |
16: 85,599,300 (GRCm39) |
F100S |
probably damaging |
Het |
| Adamts5 |
A |
G |
16: 85,666,800 (GRCm39) |
|
probably benign |
Het |
| Adgrb2 |
T |
A |
4: 129,899,212 (GRCm39) |
W309R |
probably damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,552,652 (GRCm39) |
V617E |
probably damaging |
Het |
| Akt1 |
T |
C |
12: 112,625,041 (GRCm39) |
E169G |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,389,626 (GRCm39) |
T600A |
probably benign |
Het |
| B4galt3 |
C |
T |
1: 171,103,947 (GRCm39) |
H395Y |
probably benign |
Het |
| BC024139 |
T |
G |
15: 76,008,284 (GRCm39) |
T376P |
possibly damaging |
Het |
| Bin3 |
A |
G |
14: 70,361,296 (GRCm39) |
R22G |
probably damaging |
Het |
| Cadps2 |
A |
T |
6: 23,496,805 (GRCm39) |
I480N |
probably damaging |
Het |
| Camsap3 |
A |
G |
8: 3,652,624 (GRCm39) |
T401A |
probably benign |
Het |
| Ccdc168 |
T |
C |
1: 44,095,809 (GRCm39) |
N1763S |
probably benign |
Het |
| Cdhr5 |
T |
C |
7: 140,849,320 (GRCm39) |
T747A |
probably benign |
Het |
| Chn2 |
A |
G |
6: 54,250,061 (GRCm39) |
I193V |
probably benign |
Het |
| Clca3b |
T |
C |
3: 144,544,898 (GRCm39) |
N363S |
probably benign |
Het |
| Clec7a |
T |
C |
6: 129,442,518 (GRCm39) |
T125A |
probably benign |
Het |
| Cys1 |
A |
T |
12: 24,718,610 (GRCm39) |
L81Q |
unknown |
Het |
| Dcbld2 |
G |
A |
16: 58,281,412 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
T |
A |
8: 62,411,640 (GRCm39) |
D497E |
probably benign |
Het |
| Dnah2 |
T |
C |
11: 69,356,511 (GRCm39) |
I2117V |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,042,756 (GRCm39) |
S3274F |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,842,595 (GRCm39) |
I1225N |
probably damaging |
Het |
| Egfr |
A |
G |
11: 16,819,339 (GRCm39) |
T290A |
probably benign |
Het |
| Elmod2 |
T |
A |
8: 84,046,150 (GRCm39) |
K142N |
probably benign |
Het |
| Ephx2 |
T |
C |
14: 66,324,469 (GRCm39) |
T441A |
probably benign |
Het |
| Fam234a |
A |
G |
17: 26,435,531 (GRCm39) |
|
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,893,914 (GRCm39) |
E102D |
probably benign |
Het |
| Fermt3 |
A |
G |
19: 6,991,694 (GRCm39) |
|
probably benign |
Het |
| Fgd5 |
C |
T |
6: 91,964,507 (GRCm39) |
R247C |
probably benign |
Het |
| Gm14443 |
G |
A |
2: 175,011,652 (GRCm39) |
H265Y |
probably damaging |
Het |
| Gykl1 |
A |
G |
18: 52,827,608 (GRCm39) |
D272G |
probably benign |
Het |
| Hip1r |
T |
C |
5: 124,139,575 (GRCm39) |
S952P |
possibly damaging |
Het |
| Hmcn2 |
A |
G |
2: 31,315,393 (GRCm39) |
N3714S |
probably benign |
Het |
| Ighv1-36 |
G |
T |
12: 114,843,581 (GRCm39) |
T93K |
probably benign |
Het |
| Igsf10 |
T |
G |
3: 59,243,876 (GRCm39) |
T153P |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 64,987,791 (GRCm39) |
C773R |
probably damaging |
Het |
| Lipf |
T |
A |
19: 33,942,198 (GRCm39) |
Y43N |
probably damaging |
Het |
| Mlh1 |
T |
C |
9: 111,093,972 (GRCm39) |
D90G |
probably damaging |
Het |
| Msh5 |
A |
T |
17: 35,251,830 (GRCm39) |
I410K |
probably benign |
Het |
| Mylk3 |
T |
C |
8: 86,085,874 (GRCm39) |
D220G |
probably benign |
Het |
| Ncdn |
G |
A |
4: 126,643,898 (GRCm39) |
A308V |
probably benign |
Het |
| Nfu1 |
T |
A |
6: 86,993,414 (GRCm39) |
|
probably benign |
Het |
| Nup153 |
A |
G |
13: 46,840,635 (GRCm39) |
V991A |
probably benign |
Het |
| Nup188 |
T |
A |
2: 30,220,891 (GRCm39) |
H960Q |
probably benign |
Het |
| Parp4 |
G |
T |
14: 56,853,900 (GRCm39) |
E839* |
probably null |
Het |
| Pfas |
T |
C |
11: 68,881,908 (GRCm39) |
N30D |
|
Het |
| Pitpnc1 |
T |
A |
11: 107,103,431 (GRCm39) |
N223Y |
probably damaging |
Het |
| Plaat1 |
T |
A |
16: 29,039,205 (GRCm39) |
V95E |
probably benign |
Het |
| Plod1 |
C |
T |
4: 147,997,778 (GRCm39) |
V644I |
probably damaging |
Het |
| Pou2f1 |
T |
C |
1: 165,708,039 (GRCm39) |
T548A |
unknown |
Het |
| Psg20 |
A |
T |
7: 18,416,584 (GRCm39) |
N177K |
possibly damaging |
Het |
| Psmb8 |
T |
A |
17: 34,419,225 (GRCm39) |
I173N |
probably damaging |
Het |
| Rimkla |
G |
A |
4: 119,325,273 (GRCm39) |
Q379* |
probably null |
Het |
| Rnasel |
G |
T |
1: 153,629,661 (GRCm39) |
G59V |
probably damaging |
Het |
| Scrt1 |
C |
A |
15: 76,403,411 (GRCm39) |
C193F |
unknown |
Het |
| Sdk2 |
G |
T |
11: 113,763,978 (GRCm39) |
Y269* |
probably null |
Het |
| Sfxn2 |
G |
C |
19: 46,574,243 (GRCm39) |
|
probably benign |
Het |
| Slc17a4 |
G |
T |
13: 24,087,245 (GRCm39) |
T264K |
probably benign |
Het |
| Slfn8 |
T |
A |
11: 82,907,639 (GRCm39) |
Q301H |
possibly damaging |
Het |
| Sntb1 |
G |
A |
15: 55,655,523 (GRCm39) |
S231F |
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,874,506 (GRCm39) |
S137T |
probably benign |
Het |
| Srd5a2 |
A |
T |
17: 74,354,629 (GRCm39) |
V65E |
possibly damaging |
Het |
| Stk11ip |
A |
G |
1: 75,511,900 (GRCm39) |
H967R |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,920 (GRCm39) |
T320A |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,206,043 (GRCm39) |
S112P |
possibly damaging |
Het |
| Tacc2 |
T |
C |
7: 130,294,693 (GRCm39) |
L15P |
probably benign |
Het |
| Tas2r140 |
T |
A |
6: 133,032,326 (GRCm39) |
N144I |
probably damaging |
Het |
| Thpo |
T |
A |
16: 20,544,707 (GRCm39) |
R174S |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,648,202 (GRCm39) |
Q418L |
unknown |
Het |
| Tnr |
A |
T |
1: 159,685,882 (GRCm39) |
Q371L |
probably benign |
Het |
| Tulp2 |
G |
A |
7: 45,170,398 (GRCm39) |
R439Q |
probably damaging |
Het |
| Uchl4 |
G |
T |
9: 64,142,606 (GRCm39) |
W29L |
probably damaging |
Het |
| Vrk3 |
T |
A |
7: 44,407,270 (GRCm39) |
C80* |
probably null |
Het |
| Washc4 |
T |
C |
10: 83,408,015 (GRCm39) |
L540P |
probably damaging |
Het |
| Wscd1 |
T |
C |
11: 71,675,161 (GRCm39) |
F356S |
probably damaging |
Het |
| Wwc1 |
A |
T |
11: 35,774,144 (GRCm39) |
M372K |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,312,191 (GRCm39) |
F168L |
probably benign |
Het |
| Zfp28 |
A |
G |
7: 6,393,399 (GRCm39) |
D175G |
probably 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 |
|
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 |
|
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'- AGCCTGCCATCATAAGCTAG -3'
(R):5'- ACCTTTGGGCTGTTCATGAC -3'
Sequencing Primer
(F):5'- AAGTTCTATGGATCTAGAACCTCCTC -3'
(R):5'- GGGCTGTTCATGACTAGATTTATAAC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation