Incidental Mutation 'R8411:Repin1'
ID |
652673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Repin1
|
Ensembl Gene |
ENSMUSG00000052751 |
Gene Name |
replication initiator 1 |
Synonyms |
Zfp464, AP4, E430037F08Rik |
MMRRC Submission |
067881-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8411 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
48570817-48576016 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 48574279 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Stop codon
at position 403
(E403*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118890
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009420]
[ENSMUST00000118229]
[ENSMUST00000135151]
[ENSMUST00000154010]
[ENSMUST00000163452]
[ENSMUST00000204095]
[ENSMUST00000204121]
[ENSMUST00000204521]
|
AlphaFold |
Q5U4E2 |
Predicted Effect |
probably null
Transcript: ENSMUST00000009420
AA Change: E347*
|
SMART Domains |
Protein: ENSMUSP00000009420 Gene: ENSMUSG00000052751 AA Change: E347*
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 null
Transcript: ENSMUST00000118229
AA Change: E400*
|
SMART Domains |
Protein: ENSMUSP00000113548 Gene: ENSMUSG00000052751 AA Change: E400*
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 null
Transcript: ENSMUST00000135151
AA Change: E403*
|
SMART Domains |
Protein: ENSMUSP00000118890 Gene: ENSMUSG00000052751 AA Change: E403*
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 |
probably null
Transcript: ENSMUST00000154010
AA Change: E347*
|
SMART Domains |
Protein: ENSMUSP00000121975 Gene: ENSMUSG00000052751 AA Change: E347*
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 null
Transcript: ENSMUST00000163452
AA Change: E347*
|
SMART Domains |
Protein: ENSMUSP00000132365 Gene: ENSMUSG00000052751 AA Change: E347*
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: ENSMUST00000204095
|
SMART Domains |
Protein: ENSMUSP00000145192 Gene: ENSMUSG00000007216
Domain | Start | End | E-Value | Type |
low complexity region
|
86 |
102 |
N/A |
INTRINSIC |
ZnF_C2H2
|
104 |
126 |
7.9e-4 |
SMART |
ZnF_C2H2
|
132 |
154 |
1.69e-3 |
SMART |
ZnF_C2H2
|
160 |
182 |
2.36e-2 |
SMART |
ZnF_C2H2
|
188 |
210 |
4.11e-2 |
SMART |
ZnF_C2H2
|
279 |
301 |
1.84e-4 |
SMART |
ZnF_C2H2
|
307 |
329 |
4.94e-5 |
SMART |
ZnF_C2H2
|
335 |
357 |
2.95e-3 |
SMART |
ZnF_C2H2
|
364 |
386 |
1.36e-2 |
SMART |
ZnF_C2H2
|
446 |
468 |
1.3e-4 |
SMART |
ZnF_C2H2
|
474 |
496 |
2.12e-4 |
SMART |
ZnF_C2H2
|
502 |
524 |
5.5e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204121
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000204521
|
Meta Mutation Damage Score |
0.9647 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
A |
G |
5: 113,285,588 (GRCm39) |
S89P |
probably benign |
Het |
Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
Adam18 |
A |
T |
8: 25,142,143 (GRCm39) |
I211N |
probably damaging |
Het |
Angpt1 |
T |
C |
15: 42,290,430 (GRCm39) |
Y478C |
probably damaging |
Het |
Apba2 |
A |
T |
7: 64,386,674 (GRCm39) |
I434F |
probably damaging |
Het |
Arfgef1 |
T |
A |
1: 10,286,759 (GRCm39) |
K50N |
probably benign |
Het |
Arfgef2 |
A |
T |
2: 166,715,903 (GRCm39) |
Q1397H |
probably benign |
Het |
Ascc2 |
G |
A |
11: 4,597,208 (GRCm39) |
R129Q |
probably damaging |
Het |
Atxn1 |
A |
G |
13: 45,720,032 (GRCm39) |
V621A |
probably benign |
Het |
Catsperz |
A |
T |
19: 6,899,930 (GRCm39) |
L192M |
probably benign |
Het |
Cd5 |
G |
A |
19: 10,697,585 (GRCm39) |
P465S |
probably damaging |
Het |
Cfap57 |
C |
T |
4: 118,472,128 (GRCm39) |
V84I |
probably benign |
Het |
Cfap61 |
A |
G |
2: 145,789,103 (GRCm39) |
E94G |
probably benign |
Het |
Chd1 |
A |
G |
17: 15,982,711 (GRCm39) |
H1392R |
probably damaging |
Het |
Csnk1a1 |
A |
G |
18: 61,688,888 (GRCm39) |
I23V |
probably benign |
Het |
Ctnnd2 |
C |
T |
15: 30,647,179 (GRCm39) |
R292C |
probably benign |
Het |
Dcaf6 |
T |
A |
1: 165,216,244 (GRCm39) |
H453L |
probably benign |
Het |
Dnah3 |
C |
A |
7: 119,610,253 (GRCm39) |
D1728Y |
probably damaging |
Het |
Dtx3 |
T |
C |
10: 127,028,693 (GRCm39) |
K179E |
possibly damaging |
Het |
Fam3b |
T |
A |
16: 97,283,053 (GRCm39) |
Y74F |
probably benign |
Het |
Gm5464 |
T |
C |
14: 67,106,555 (GRCm39) |
L64P |
unknown |
Het |
Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
Kcnh7 |
T |
A |
2: 62,594,952 (GRCm39) |
H706L |
probably damaging |
Het |
Kdm2b |
C |
T |
5: 123,018,239 (GRCm39) |
R1067H |
probably damaging |
Het |
Klhl28 |
A |
T |
12: 64,996,864 (GRCm39) |
H492Q |
probably damaging |
Het |
Loxl3 |
T |
A |
6: 83,027,605 (GRCm39) |
C716S |
probably damaging |
Het |
Ltbp2 |
A |
G |
12: 84,833,187 (GRCm39) |
Y1474H |
probably damaging |
Het |
Mcm3 |
C |
T |
1: 20,886,980 (GRCm39) |
V142I |
probably benign |
Het |
Mmp24 |
G |
T |
2: 155,655,935 (GRCm39) |
V458L |
probably benign |
Het |
Mpl |
C |
A |
4: 118,303,306 (GRCm39) |
S502I |
|
Het |
Nfatc1 |
A |
T |
18: 80,710,257 (GRCm39) |
V503D |
probably damaging |
Het |
Nim1k |
A |
G |
13: 120,175,807 (GRCm39) |
I133T |
possibly damaging |
Het |
Nr1d2 |
T |
C |
14: 18,215,031 (GRCm38) |
Y327C |
probably damaging |
Het |
Oma1 |
C |
T |
4: 103,186,113 (GRCm39) |
R360* |
probably null |
Het |
Oog2 |
T |
A |
4: 143,920,743 (GRCm39) |
W59R |
probably damaging |
Het |
Or4c109 |
T |
C |
2: 88,818,409 (GRCm39) |
T46A |
probably benign |
Het |
Pcdh10 |
A |
G |
3: 45,333,974 (GRCm39) |
E96G |
probably damaging |
Het |
Pcna |
T |
A |
2: 132,093,850 (GRCm39) |
T98S |
probably benign |
Het |
Pcnx3 |
C |
T |
19: 5,729,618 (GRCm39) |
C899Y |
possibly damaging |
Het |
Phf11d |
T |
C |
14: 59,593,883 (GRCm39) |
N97S |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,103,961 (GRCm39) |
W431* |
probably null |
Het |
Plk4 |
A |
G |
3: 40,767,901 (GRCm39) |
T815A |
probably benign |
Het |
Pnma2 |
C |
T |
14: 67,153,762 (GRCm39) |
T62I |
possibly damaging |
Het |
Ppp1r9a |
C |
T |
6: 5,057,568 (GRCm39) |
R548W |
probably damaging |
Het |
Ptx3 |
A |
G |
3: 66,132,201 (GRCm39) |
S241G |
probably benign |
Het |
Rplp0 |
A |
T |
5: 115,698,823 (GRCm39) |
K26N |
probably damaging |
Het |
Sec62 |
A |
C |
3: 30,872,931 (GRCm39) |
E338A |
unknown |
Het |
Sema6a |
T |
C |
18: 47,382,022 (GRCm39) |
M842V |
probably benign |
Het |
Serpina3j |
T |
C |
12: 104,281,043 (GRCm39) |
V72A |
probably benign |
Het |
Siglecf |
T |
C |
7: 43,001,368 (GRCm39) |
F112S |
probably damaging |
Het |
Slc29a4 |
A |
G |
5: 142,705,880 (GRCm39) |
N455D |
probably damaging |
Het |
Slc6a11 |
T |
A |
6: 114,108,398 (GRCm39) |
F54Y |
probably benign |
Het |
Spag6 |
G |
A |
2: 18,715,394 (GRCm39) |
V80M |
probably damaging |
Het |
Spic |
T |
C |
10: 88,514,498 (GRCm39) |
E34G |
possibly damaging |
Het |
Tecpr2 |
A |
G |
12: 110,898,154 (GRCm39) |
K469E |
possibly damaging |
Het |
Them7 |
T |
A |
2: 105,128,190 (GRCm39) |
L57Q |
probably benign |
Het |
Tlr3 |
G |
A |
8: 45,849,978 (GRCm39) |
A897V |
probably damaging |
Het |
Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,831,332 (GRCm39) |
Q1399L |
probably benign |
Het |
Ttn |
C |
A |
2: 76,677,015 (GRCm39) |
E11074* |
probably null |
Het |
Ubash3b |
G |
A |
9: 40,954,781 (GRCm39) |
A243V |
probably benign |
Het |
Vash1 |
G |
A |
12: 86,726,952 (GRCm39) |
R64Q |
possibly damaging |
Het |
Vmn1r167 |
T |
A |
7: 23,204,981 (GRCm39) |
M12L |
possibly damaging |
Het |
Vmn2r111 |
T |
A |
17: 22,767,562 (GRCm39) |
H645L |
probably benign |
Het |
Vmn2r75 |
A |
T |
7: 85,797,722 (GRCm39) |
I697K |
probably damaging |
Het |
Vmn2r87 |
A |
G |
10: 130,308,126 (GRCm39) |
I704T |
probably damaging |
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 |
R5008:Repin1
|
UTSW |
6 |
48,573,542 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
|
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'- GCATACATACCGGCGAGAAG -3'
(R):5'- ACATAGGGTTTCTCGCCTGTG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
Posted On |
2020-10-20 |