Incidental Mutation 'R7018:Rptn'
ID |
545435 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rptn
|
Ensembl Gene |
ENSMUSG00000041984 |
Gene Name |
repetin |
Synonyms |
|
MMRRC Submission |
045119-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
R7018 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93301006-93306749 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 93305207 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 847
(C847R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000044998
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045912]
|
AlphaFold |
P97347 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045912
AA Change: C847R
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044998 Gene: ENSMUSG00000041984 AA Change: C847R
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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
All alleles(1) : Targeted, knock-out(1) |
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apcdd1 |
G |
T |
18: 63,070,120 (GRCm39) |
R129L |
probably damaging |
Het |
Arhgef28 |
C |
T |
13: 98,101,943 (GRCm39) |
V844I |
probably damaging |
Het |
Arhgef5 |
T |
C |
6: 43,265,665 (GRCm39) |
V1569A |
probably damaging |
Het |
Atr |
T |
A |
9: 95,748,747 (GRCm39) |
S431T |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,360,953 (GRCm39) |
D795G |
possibly damaging |
Het |
Crygf |
T |
C |
1: 65,967,130 (GRCm39) |
S85P |
probably benign |
Het |
Dip2c |
T |
A |
13: 9,709,314 (GRCm39) |
Y1385N |
probably damaging |
Het |
Dnah14 |
G |
A |
1: 181,454,509 (GRCm39) |
V840I |
possibly damaging |
Het |
Dsg1a |
T |
C |
18: 20,461,795 (GRCm39) |
F299L |
possibly damaging |
Het |
Fgfr4 |
A |
T |
13: 55,314,013 (GRCm39) |
S576C |
probably damaging |
Het |
Frmd8 |
T |
C |
19: 5,919,546 (GRCm39) |
D167G |
probably damaging |
Het |
Gm5105 |
G |
A |
3: 137,755,319 (GRCm39) |
T89I |
unknown |
Het |
Grhl1 |
C |
T |
12: 24,625,996 (GRCm39) |
S35L |
possibly damaging |
Het |
Gsn |
A |
G |
2: 35,183,518 (GRCm39) |
E242G |
probably benign |
Het |
Hcrtr1 |
A |
G |
4: 130,029,661 (GRCm39) |
I140T |
probably damaging |
Het |
Ifnlr1 |
T |
C |
4: 135,431,135 (GRCm39) |
Y208H |
possibly damaging |
Het |
Ighv1-58 |
T |
C |
12: 115,275,985 (GRCm39) |
Y51C |
probably damaging |
Het |
Iqcj |
T |
A |
3: 67,948,580 (GRCm39) |
Y21* |
probably null |
Het |
Kcnc4 |
T |
C |
3: 107,366,178 (GRCm39) |
Y10C |
probably benign |
Het |
Kcnk7 |
G |
T |
19: 5,756,160 (GRCm39) |
G129W |
probably damaging |
Het |
Kcnq2 |
T |
A |
2: 180,723,517 (GRCm39) |
R620* |
probably null |
Het |
Klk13 |
C |
A |
7: 43,376,126 (GRCm39) |
P267Q |
probably benign |
Het |
Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
Lamc2 |
T |
A |
1: 153,012,488 (GRCm39) |
M729L |
probably benign |
Het |
Lyst |
T |
G |
13: 13,918,044 (GRCm39) |
|
probably null |
Het |
Med13l |
G |
A |
5: 118,890,051 (GRCm39) |
R1909H |
probably damaging |
Het |
Mstn |
T |
A |
1: 53,103,243 (GRCm39) |
L193Q |
possibly damaging |
Het |
Mylk |
T |
C |
16: 34,820,796 (GRCm39) |
V125A |
possibly damaging |
Het |
Nalcn |
T |
A |
14: 123,647,233 (GRCm39) |
M547L |
probably damaging |
Het |
Nckap5 |
A |
G |
1: 125,952,785 (GRCm39) |
S1256P |
probably damaging |
Het |
Nkain1 |
T |
C |
4: 130,532,118 (GRCm38) |
Y189C |
probably damaging |
Het |
Oosp3 |
T |
A |
19: 11,676,783 (GRCm39) |
D47E |
probably benign |
Het |
Or14j8 |
A |
T |
17: 38,263,393 (GRCm39) |
I174N |
probably damaging |
Het |
Or5d37 |
T |
A |
2: 87,923,600 (GRCm39) |
I227F |
probably benign |
Het |
Or5h25 |
A |
G |
16: 58,930,970 (GRCm39) |
M1T |
probably null |
Het |
Or5p66 |
T |
G |
7: 107,885,551 (GRCm39) |
I261L |
probably benign |
Het |
Pcdh15 |
G |
T |
10: 74,302,186 (GRCm39) |
G942W |
probably damaging |
Het |
Pcyox1l |
C |
A |
18: 61,840,625 (GRCm39) |
|
probably benign |
Het |
Peg3 |
T |
C |
7: 6,711,838 (GRCm39) |
E1128G |
possibly damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Plscr1 |
T |
A |
9: 92,146,715 (GRCm39) |
V119D |
probably damaging |
Het |
Prss56 |
A |
T |
1: 87,113,670 (GRCm39) |
D258V |
possibly damaging |
Het |
Ptpn23 |
T |
G |
9: 110,214,884 (GRCm39) |
K85Q |
possibly damaging |
Het |
Ranbp3l |
C |
A |
15: 9,037,159 (GRCm39) |
S7Y |
probably benign |
Het |
Rnf31 |
T |
C |
14: 55,829,690 (GRCm39) |
L85P |
probably damaging |
Het |
Six4 |
T |
A |
12: 73,155,727 (GRCm39) |
E413D |
probably benign |
Het |
Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
Sned1 |
T |
C |
1: 93,212,143 (GRCm39) |
V1115A |
probably damaging |
Het |
Spen |
T |
C |
4: 141,220,755 (GRCm39) |
K401E |
unknown |
Het |
Srbd1 |
T |
A |
17: 86,443,843 (GRCm39) |
R128W |
possibly damaging |
Het |
Strc |
A |
T |
2: 121,199,539 (GRCm39) |
I1300N |
probably damaging |
Het |
Susd1 |
T |
G |
4: 59,390,627 (GRCm39) |
T230P |
probably benign |
Het |
Thumpd2 |
G |
T |
17: 81,363,326 (GRCm39) |
S47* |
probably null |
Het |
Tmprss11a |
C |
T |
5: 86,576,429 (GRCm39) |
V141I |
probably damaging |
Het |
Tmprss15 |
T |
C |
16: 78,821,741 (GRCm39) |
Y438C |
possibly damaging |
Het |
Tnfrsf1a |
T |
C |
6: 125,333,914 (GRCm39) |
S56P |
probably damaging |
Het |
Ttc39d |
T |
C |
17: 80,523,610 (GRCm39) |
W90R |
probably benign |
Het |
Utp25 |
A |
G |
1: 192,797,163 (GRCm39) |
I563T |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Wdr20rt |
A |
T |
12: 65,272,536 (GRCm39) |
|
probably null |
Het |
Zfp646 |
C |
A |
7: 127,481,494 (GRCm39) |
Q1224K |
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 |
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'- ATCAGAATTCACACTGGCATCG -3'
(R):5'- ATGGGATCTCTGACTCTGGG -3'
Sequencing Primer
(F):5'- TCATTATGGTCAGACAGGTGGAC -3'
(R):5'- ACTCTGGGTTTGACGCAC -3'
|
Posted On |
2019-05-13 |