Incidental Mutation 'R5008:Repin1'
ID |
390280 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Repin1
|
Ensembl Gene |
ENSMUSG00000052751 |
Gene Name |
replication initiator 1 |
Synonyms |
Zfp464, AP4, E430037F08Rik |
MMRRC Submission |
042599-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5008 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
48570817-48576016 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48573542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 101
(V101A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000132365
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009420]
[ENSMUST00000118229]
[ENSMUST00000135151]
[ENSMUST00000154010]
[ENSMUST00000163452]
[ENSMUST00000204521]
[ENSMUST00000204121]
|
AlphaFold |
Q5U4E2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000009420
AA Change: V101A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000009420 Gene: ENSMUSG00000052751 AA Change: V101A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
4.72e-2 |
SMART |
ZnF_C2H2
|
381 |
403 |
1.26e-2 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.79e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
4.24e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
6.52e-5 |
SMART |
ZnF_C2H2
|
493 |
515 |
2.61e-4 |
SMART |
ZnF_C2H2
|
521 |
543 |
1.45e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000118229
AA Change: V154A
PolyPhen 2
Score 0.240 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000113548 Gene: ENSMUSG00000052751 AA Change: V154A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
4.72e-2 |
SMART |
ZnF_C2H2
|
381 |
403 |
1.26e-2 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.79e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
4.24e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
6.52e-5 |
SMART |
ZnF_C2H2
|
493 |
515 |
2.61e-4 |
SMART |
ZnF_C2H2
|
521 |
543 |
1.45e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130896
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000135151
AA Change: V157A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000118890 Gene: ENSMUSG00000052751 AA Change: V157A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
Pfam:zf-C2H2_6
|
284 |
300 |
1.4e-1 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150030
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154010
AA Change: V101A
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000121975 Gene: ENSMUSG00000052751 AA Change: V101A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000163452
AA Change: V101A
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000132365 Gene: ENSMUSG00000052751 AA Change: V101A
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
52 |
72 |
3.47e1 |
SMART |
ZnF_C2H2
|
80 |
102 |
5.81e-2 |
SMART |
ZnF_C2H2
|
111 |
133 |
5.5e-3 |
SMART |
ZnF_C2H2
|
140 |
160 |
1.16e1 |
SMART |
ZnF_C2H2
|
172 |
194 |
3.89e-3 |
SMART |
low complexity region
|
196 |
224 |
N/A |
INTRINSIC |
ZnF_C2H2
|
229 |
251 |
1.67e-2 |
SMART |
ZnF_C2H2
|
257 |
279 |
4.94e-5 |
SMART |
ZnF_C2H2
|
285 |
307 |
5.21e-4 |
SMART |
ZnF_C2H2
|
353 |
375 |
4.72e-2 |
SMART |
ZnF_C2H2
|
381 |
403 |
1.26e-2 |
SMART |
ZnF_C2H2
|
409 |
431 |
1.79e-2 |
SMART |
ZnF_C2H2
|
437 |
459 |
4.24e-4 |
SMART |
ZnF_C2H2
|
465 |
487 |
6.52e-5 |
SMART |
ZnF_C2H2
|
493 |
515 |
2.61e-4 |
SMART |
ZnF_C2H2
|
521 |
543 |
1.45e-2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204879
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204121
|
Meta Mutation Damage Score |
0.1473 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
97% (73/75) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele improves in insulin sensitivity and glucose metabolism in Leprdb homozygotes. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022A10Rik |
C |
G |
7: 27,278,192 (GRCm39) |
T242R |
probably damaging |
Het |
2310057N15Rik |
A |
G |
16: 88,570,663 (GRCm39) |
Y126H |
probably damaging |
Het |
Catsperg1 |
A |
T |
7: 28,894,859 (GRCm39) |
Y579* |
probably null |
Het |
Chchd5 |
A |
T |
2: 128,972,319 (GRCm39) |
|
probably null |
Het |
Chd1l |
T |
C |
3: 97,491,224 (GRCm39) |
N423D |
probably damaging |
Het |
Cntnap1 |
G |
A |
11: 101,079,567 (GRCm39) |
W1268* |
probably null |
Het |
Col2a1 |
G |
A |
15: 97,877,550 (GRCm39) |
A1011V |
probably benign |
Het |
Cst11 |
A |
G |
2: 148,612,325 (GRCm39) |
I104T |
probably benign |
Het |
Dctd |
C |
T |
8: 48,590,449 (GRCm39) |
|
probably benign |
Het |
Dnaaf4 |
T |
C |
9: 72,879,600 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
G |
11: 118,001,403 (GRCm39) |
F847L |
probably benign |
Het |
Dspp |
A |
T |
5: 104,323,439 (GRCm39) |
H194L |
possibly damaging |
Het |
Dync2i2 |
C |
A |
2: 29,922,781 (GRCm39) |
R322L |
probably benign |
Het |
Frmd5 |
C |
A |
2: 121,379,341 (GRCm39) |
R414L |
probably damaging |
Het |
Galnt3 |
C |
A |
2: 65,915,585 (GRCm39) |
R592L |
probably benign |
Het |
Gm38706 |
T |
A |
6: 130,461,580 (GRCm39) |
|
noncoding transcript |
Het |
Gm38706 |
T |
A |
6: 130,461,983 (GRCm39) |
|
noncoding transcript |
Het |
Hivep3 |
A |
G |
4: 119,956,114 (GRCm39) |
K1477E |
probably benign |
Het |
Igsf3 |
C |
T |
3: 101,358,233 (GRCm39) |
T708M |
probably damaging |
Het |
Ikzf4 |
T |
G |
10: 128,477,119 (GRCm39) |
E64A |
probably benign |
Het |
Klhl28 |
C |
T |
12: 65,004,001 (GRCm39) |
E171K |
probably damaging |
Het |
Krt87 |
T |
A |
15: 101,389,105 (GRCm39) |
I76F |
probably damaging |
Het |
Lat2 |
A |
G |
5: 134,631,991 (GRCm39) |
V152A |
probably benign |
Het |
Lrp12 |
C |
T |
15: 39,741,852 (GRCm39) |
D288N |
probably damaging |
Het |
Mdp1 |
C |
T |
14: 55,896,683 (GRCm39) |
R126Q |
probably damaging |
Het |
Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
Muc6 |
G |
A |
7: 141,223,981 (GRCm39) |
|
probably benign |
Het |
Myh4 |
T |
A |
11: 67,144,358 (GRCm39) |
S1243T |
probably benign |
Het |
Myo3b |
T |
A |
2: 70,088,412 (GRCm39) |
F892I |
probably damaging |
Het |
Nckap5l |
T |
C |
15: 99,323,731 (GRCm39) |
N924S |
possibly damaging |
Het |
Npnt |
C |
T |
3: 132,612,218 (GRCm39) |
C218Y |
probably damaging |
Het |
Or2a20 |
T |
A |
6: 43,193,991 (GRCm39) |
I48N |
probably damaging |
Het |
Or2d2b |
A |
T |
7: 106,705,288 (GRCm39) |
M260K |
probably damaging |
Het |
Or7a42 |
T |
A |
10: 78,791,905 (GRCm39) |
F289I |
probably damaging |
Het |
Pfkm |
G |
A |
15: 98,020,570 (GRCm39) |
C233Y |
probably benign |
Het |
Pigq |
A |
G |
17: 26,153,177 (GRCm39) |
V338A |
probably benign |
Het |
Pld4 |
A |
T |
12: 112,734,484 (GRCm39) |
N415I |
possibly damaging |
Het |
Pmm1 |
A |
T |
15: 81,842,095 (GRCm39) |
|
probably null |
Het |
Polg |
G |
T |
7: 79,109,822 (GRCm39) |
P394T |
probably damaging |
Het |
Polq |
A |
T |
16: 36,882,749 (GRCm39) |
I1359L |
probably benign |
Het |
Pramel30 |
A |
G |
4: 144,057,836 (GRCm39) |
S148G |
probably benign |
Het |
Pros1 |
A |
G |
16: 62,748,548 (GRCm39) |
N674D |
possibly damaging |
Het |
Psme4 |
T |
A |
11: 30,806,896 (GRCm39) |
|
probably benign |
Het |
Rasa3 |
A |
T |
8: 13,634,959 (GRCm39) |
C453* |
probably null |
Het |
Rnf186 |
A |
T |
4: 138,694,540 (GRCm39) |
M27L |
probably benign |
Het |
Rpa1 |
A |
G |
11: 75,204,125 (GRCm39) |
|
probably null |
Het |
Rph3a |
G |
T |
5: 121,083,454 (GRCm39) |
N605K |
probably damaging |
Het |
Rps18 |
A |
T |
17: 34,171,258 (GRCm39) |
|
probably null |
Het |
Scgn |
A |
G |
13: 24,174,958 (GRCm39) |
I20T |
probably damaging |
Het |
Skint6 |
A |
T |
4: 112,848,452 (GRCm39) |
V652E |
possibly damaging |
Het |
Slc23a2 |
T |
C |
2: 131,943,414 (GRCm39) |
H29R |
probably damaging |
Het |
Slc34a3 |
C |
T |
2: 25,120,854 (GRCm39) |
V383I |
possibly damaging |
Het |
Slc5a1 |
A |
G |
5: 33,309,917 (GRCm39) |
M382V |
possibly damaging |
Het |
Slc5a3 |
T |
A |
16: 91,874,169 (GRCm39) |
S75R |
probably damaging |
Het |
Stat5b |
G |
C |
11: 100,693,309 (GRCm39) |
H111D |
probably benign |
Het |
Tanc2 |
G |
A |
11: 105,515,886 (GRCm39) |
M1I |
probably null |
Het |
Tbcel |
C |
T |
9: 42,327,419 (GRCm39) |
G328E |
probably damaging |
Het |
Tecta |
C |
A |
9: 42,284,358 (GRCm39) |
R909L |
possibly damaging |
Het |
Tnip1 |
A |
T |
11: 54,828,810 (GRCm39) |
M119K |
probably benign |
Het |
Zbbx |
A |
C |
3: 75,058,755 (GRCm39) |
S51A |
possibly damaging |
Het |
Zc3h12c |
T |
C |
9: 52,028,000 (GRCm39) |
N454S |
probably benign |
Het |
Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
Het |
|
Other mutations in Repin1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01100:Repin1
|
APN |
6 |
48,573,839 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01103:Repin1
|
APN |
6 |
48,574,887 (GRCm39) |
intron |
probably benign |
|
IGL02027:Repin1
|
APN |
6 |
48,573,407 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02143:Repin1
|
APN |
6 |
48,574,055 (GRCm39) |
missense |
probably damaging |
1.00 |
R0395:Repin1
|
UTSW |
6 |
48,574,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1233:Repin1
|
UTSW |
6 |
48,574,768 (GRCm39) |
missense |
possibly damaging |
0.72 |
R1743:Repin1
|
UTSW |
6 |
48,574,684 (GRCm39) |
missense |
probably damaging |
0.96 |
R2259:Repin1
|
UTSW |
6 |
48,573,464 (GRCm39) |
missense |
probably benign |
0.00 |
R4509:Repin1
|
UTSW |
6 |
48,573,460 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5009:Repin1
|
UTSW |
6 |
48,571,779 (GRCm39) |
intron |
probably benign |
|
R5425:Repin1
|
UTSW |
6 |
48,573,365 (GRCm39) |
missense |
probably benign |
0.18 |
R5829:Repin1
|
UTSW |
6 |
48,571,766 (GRCm39) |
intron |
probably benign |
|
R6350:Repin1
|
UTSW |
6 |
48,574,562 (GRCm39) |
missense |
probably damaging |
0.98 |
R6841:Repin1
|
UTSW |
6 |
48,574,859 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6854:Repin1
|
UTSW |
6 |
48,570,825 (GRCm39) |
intron |
probably benign |
|
R7067:Repin1
|
UTSW |
6 |
48,574,850 (GRCm39) |
nonsense |
probably null |
|
R7636:Repin1
|
UTSW |
6 |
48,573,299 (GRCm39) |
missense |
probably benign |
0.00 |
R7699:Repin1
|
UTSW |
6 |
48,574,756 (GRCm39) |
missense |
probably damaging |
0.96 |
R7700:Repin1
|
UTSW |
6 |
48,574,756 (GRCm39) |
missense |
probably damaging |
0.96 |
R7747:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7748:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7781:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7815:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7820:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7869:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7988:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R7991:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8078:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8079:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8080:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8088:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8089:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8130:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8131:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8324:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8325:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8342:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8411:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8488:Repin1
|
UTSW |
6 |
48,570,952 (GRCm39) |
missense |
probably damaging |
0.98 |
R8542:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8543:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8544:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8697:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8699:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8701:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8702:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8731:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8732:Repin1
|
UTSW |
6 |
48,574,279 (GRCm39) |
nonsense |
probably null |
|
R8780:Repin1
|
UTSW |
6 |
48,574,073 (GRCm39) |
missense |
probably damaging |
0.99 |
R8879:Repin1
|
UTSW |
6 |
48,574,367 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9049:Repin1
|
UTSW |
6 |
48,574,646 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9465:Repin1
|
UTSW |
6 |
48,571,877 (GRCm39) |
missense |
probably benign |
0.18 |
|
Predicted Primers |
PCR Primer
(F):5'- AATCAGCTCAGCCAAGAGG -3'
(R):5'- AGTTGCCGCATATGAAGGG -3'
Sequencing Primer
(F):5'- AGAGGCCAAACCCCAGG -3'
(R):5'- ACCTTCGCAGATGAGCTCGAAG -3'
|
Posted On |
2016-06-06 |