Incidental Mutation 'R6226:Rptn'
| ID |
504322 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rptn
|
| Ensembl Gene |
ENSMUSG00000041984 |
| Gene Name |
repetin |
| Synonyms |
|
| MMRRC Submission |
044397-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R6226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93301006-93306749 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 93305437 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 923
(H923Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
| AlphaFold |
P97347 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045912
AA Change: H923Q
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000044998
Gene: ENSMUSG00000041984
AA Change: H923Q
| 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 |
0.0873 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,293,853 (GRCm39) |
T62A |
probably benign |
Het |
| Adam33 |
G |
A |
2: 130,897,530 (GRCm39) |
T265I |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,904,560 (GRCm39) |
T654A |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,258,066 (GRCm39) |
S992P |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,492,292 (GRCm39) |
F939L |
probably damaging |
Het |
| Anks1 |
G |
A |
17: 28,276,304 (GRCm39) |
V1016I |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,173,238 (GRCm39) |
T401A |
probably benign |
Het |
| Atad1 |
G |
T |
19: 32,678,987 (GRCm39) |
D105E |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,415,664 (GRCm39) |
T313A |
possibly damaging |
Het |
| Cdk15 |
T |
C |
1: 59,304,792 (GRCm39) |
V131A |
probably damaging |
Het |
| Cldnd1 |
A |
T |
16: 58,551,663 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,948,882 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
| Dnah7b |
A |
C |
1: 46,165,828 (GRCm39) |
K498Q |
probably benign |
Het |
| Dnase2b |
A |
G |
3: 146,290,318 (GRCm39) |
Y218H |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,712,506 (GRCm39) |
V170D |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,955 (GRCm39) |
V1543A |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,272,258 (GRCm39) |
I72K |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,927 (GRCm39) |
Y41C |
probably benign |
Het |
| Foxd3 |
T |
C |
4: 99,545,261 (GRCm39) |
Y134H |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,910,685 (GRCm39) |
|
probably benign |
Het |
| Gale |
A |
G |
4: 135,692,916 (GRCm39) |
E53G |
possibly damaging |
Het |
| Glis3 |
A |
G |
19: 28,294,702 (GRCm39) |
S699P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,246 (GRCm39) |
M136K |
unknown |
Het |
| Grik3 |
T |
C |
4: 125,553,582 (GRCm39) |
V438A |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,422,429 (GRCm39) |
N133D |
probably damaging |
Het |
| Gsg1 |
T |
A |
6: 135,217,110 (GRCm39) |
D239V |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,431,975 (GRCm39) |
W23R |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,031,583 (GRCm39) |
T1100A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,607,903 (GRCm39) |
F559L |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,536,616 (GRCm39) |
R612L |
probably damaging |
Het |
| Lrrc74a |
T |
A |
12: 86,795,231 (GRCm39) |
N253K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,351,540 (GRCm39) |
H1961R |
possibly damaging |
Het |
| Ncam1 |
C |
T |
9: 49,476,304 (GRCm39) |
E262K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,339,125 (GRCm39) |
S968P |
possibly damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,070 (GRCm39) |
T181A |
possibly damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,009,744 (GRCm39) |
S112R |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,013,165 (GRCm39) |
W137R |
probably damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,736 (GRCm39) |
S152G |
probably benign |
Het |
| Or2t26 |
A |
G |
11: 49,039,660 (GRCm39) |
D192G |
possibly damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,333 (GRCm39) |
L299H |
probably damaging |
Het |
| Or52n1 |
A |
T |
7: 104,383,243 (GRCm39) |
F109L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
| Or8b55 |
T |
C |
9: 38,727,666 (GRCm39) |
I289T |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,607,067 (GRCm39) |
Y2105* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,338,555 (GRCm39) |
S24G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,009,491 (GRCm39) |
R130W |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,287 (GRCm39) |
N715S |
probably benign |
Het |
| Pou6f2 |
A |
T |
13: 18,303,739 (GRCm39) |
I123N |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,539,513 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,646,375 (GRCm39) |
F1028L |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,681,431 (GRCm39) |
Y68N |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,440,099 (GRCm39) |
T856A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpl22l1 |
A |
G |
3: 28,860,676 (GRCm39) |
T13A |
possibly damaging |
Het |
| Sec14l5 |
G |
A |
16: 4,994,429 (GRCm39) |
V408I |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,068,037 (GRCm39) |
S33P |
possibly damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,392 (GRCm39) |
N524S |
probably damaging |
Het |
| Shkbp1 |
C |
A |
7: 27,051,405 (GRCm39) |
R218M |
probably null |
Het |
| Sorcs1 |
T |
A |
19: 50,169,852 (GRCm39) |
I970F |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,918,743 (GRCm39) |
V962A |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,086,054 (GRCm39) |
M1205T |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,462,093 (GRCm39) |
V369M |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,712,220 (GRCm39) |
F219S |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,365,086 (GRCm39) |
|
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,973,328 (GRCm39) |
E135G |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 12,769,815 (GRCm39) |
V110A |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,989 (GRCm39) |
V132A |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,168,100 (GRCm39) |
S86T |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,398 (GRCm39) |
D320E |
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 |
|
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'- AACAGGCACTCTCTAGGGAC -3'
(R):5'- CATGGGTTTGCCTATCACTTG -3'
Sequencing Primer
(F):5'- GCACTCTCTAGGGACTGATAGAAC -3'
(R):5'- GCCTATCACTTGTTTGATGGC -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation