Incidental Mutation 'R8078:Repin1'
| ID |
629141 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Repin1
|
| Ensembl Gene |
ENSMUSG00000052751 |
| Gene Name |
replication initiator 1 |
| Synonyms |
Zfp464, AP4, E430037F08Rik |
| MMRRC Submission |
067512-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8078 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 95.9%
|
| Validation Efficiency |
100% (63/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
A |
11: 9,251,279 (GRCm39) |
V2884I |
probably benign |
Het |
| Actl10 |
T |
A |
2: 154,394,490 (GRCm39) |
N147K |
probably benign |
Het |
| Agpat2 |
C |
A |
2: 26,494,113 (GRCm39) |
C37F |
possibly damaging |
Het |
| Alb |
G |
C |
5: 90,615,214 (GRCm39) |
R242P |
probably damaging |
Het |
| Ankrd26 |
T |
A |
6: 118,494,854 (GRCm39) |
|
probably null |
Het |
| Bcas1 |
T |
C |
2: 170,260,532 (GRCm39) |
E49G |
possibly damaging |
Het |
| Birc2 |
A |
G |
9: 7,858,742 (GRCm39) |
V331A |
probably damaging |
Het |
| Cadm3 |
A |
G |
1: 173,168,626 (GRCm39) |
V314A |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,408,749 (GRCm39) |
V2407A |
probably benign |
Het |
| Chd5 |
C |
A |
4: 152,445,448 (GRCm39) |
N446K |
possibly damaging |
Het |
| Clec9a |
A |
G |
6: 129,385,996 (GRCm39) |
S27G |
probably benign |
Het |
| Coro1c |
G |
T |
5: 114,020,164 (GRCm39) |
A17E |
probably damaging |
Het |
| Cspg4 |
T |
C |
9: 56,797,543 (GRCm39) |
S1336P |
possibly damaging |
Het |
| Ddx55 |
G |
A |
5: 124,704,451 (GRCm39) |
V353M |
probably damaging |
Het |
| Farp1 |
T |
A |
14: 121,513,712 (GRCm39) |
S836T |
probably benign |
Het |
| Fbll1 |
G |
T |
11: 35,688,728 (GRCm39) |
D178E |
probably benign |
Het |
| Flg2 |
T |
G |
3: 93,107,582 (GRCm39) |
D22E |
probably damaging |
Het |
| Glis1 |
T |
A |
4: 107,425,099 (GRCm39) |
C237S |
probably damaging |
Het |
| Gm5519 |
T |
C |
19: 33,800,357 (GRCm39) |
V17A |
possibly damaging |
Het |
| Gucy2c |
C |
A |
6: 136,674,919 (GRCm39) |
G1055C |
probably damaging |
Het |
| Hspg2 |
T |
C |
4: 137,235,333 (GRCm39) |
Y123H |
probably damaging |
Het |
| Idh1 |
T |
A |
1: 65,200,225 (GRCm39) |
I380F |
probably damaging |
Het |
| Il23r |
A |
T |
6: 67,400,577 (GRCm39) |
N584K |
probably damaging |
Het |
| Irag1 |
T |
C |
7: 110,498,942 (GRCm39) |
E363G |
probably damaging |
Het |
| Lama1 |
A |
T |
17: 68,098,289 (GRCm39) |
T1829S |
|
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Luzp2 |
T |
A |
7: 54,702,510 (GRCm39) |
Y24* |
probably null |
Het |
| Masp2 |
A |
T |
4: 148,698,235 (GRCm39) |
T439S |
probably benign |
Het |
| Meioc |
G |
A |
11: 102,559,226 (GRCm39) |
W49* |
probably null |
Het |
| Mtor |
T |
G |
4: 148,552,744 (GRCm39) |
I749S |
probably benign |
Het |
| Myo16 |
T |
A |
8: 10,612,078 (GRCm39) |
V1241D |
unknown |
Het |
| Ncam2 |
G |
T |
16: 81,240,136 (GRCm39) |
R199L |
possibly damaging |
Het |
| Nyap2 |
A |
G |
1: 81,218,772 (GRCm39) |
S265G |
possibly damaging |
Het |
| Or4f15 |
T |
A |
2: 111,813,615 (GRCm39) |
D268V |
probably damaging |
Het |
| Parp8 |
A |
T |
13: 117,061,519 (GRCm39) |
F175I |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,022,054 (GRCm39) |
T823A |
|
Het |
| Phc2 |
T |
A |
4: 128,604,855 (GRCm39) |
I197N |
probably damaging |
Het |
| Plaat3 |
C |
T |
19: 7,556,526 (GRCm39) |
T109I |
probably benign |
Het |
| Pot1a |
T |
C |
6: 25,750,107 (GRCm39) |
I518M |
probably benign |
Het |
| Prg2 |
T |
A |
2: 84,812,604 (GRCm39) |
C105S |
probably benign |
Het |
| Rab39 |
A |
G |
9: 53,617,255 (GRCm39) |
L54P |
possibly damaging |
Het |
| Rell1 |
T |
A |
5: 64,097,064 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,327,566 (GRCm39) |
Y668H |
probably benign |
Het |
| Sncg |
C |
A |
14: 34,096,727 (GRCm39) |
|
probably benign |
Het |
| Spata31d1b |
A |
G |
13: 59,863,263 (GRCm39) |
D137G |
probably damaging |
Het |
| Tas1r1 |
C |
T |
4: 152,112,803 (GRCm39) |
G750D |
probably damaging |
Het |
| Tcea3 |
A |
T |
4: 135,981,825 (GRCm39) |
D61V |
probably damaging |
Het |
| Tfap2c |
T |
A |
2: 172,393,392 (GRCm39) |
H102Q |
probably damaging |
Het |
| Tmem150a |
T |
A |
6: 72,335,306 (GRCm39) |
L95H |
probably damaging |
Het |
| Tnfrsf11a |
A |
T |
1: 105,745,409 (GRCm39) |
D149V |
probably damaging |
Het |
| Tsc22d2 |
C |
A |
3: 58,323,453 (GRCm39) |
A115E |
probably benign |
Het |
| Vmn2r101 |
T |
A |
17: 19,810,507 (GRCm39) |
F431Y |
probably benign |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r85 |
C |
A |
10: 130,265,364 (GRCm39) |
E40* |
probably null |
Het |
| Zfp606 |
G |
A |
7: 12,214,942 (GRCm39) |
A57T |
possibly damaging |
Het |
| Zfp760 |
T |
C |
17: 21,942,436 (GRCm39) |
V537A |
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 |
|
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 |
|
|
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'- GCATACATACCGGCGAGAAG -3'
(R):5'- CATAGGGTTTCTCGCCTGTG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation