Incidental Mutation 'IGL01103:Repin1'
| ID |
51318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Repin1
|
| Ensembl Gene |
ENSMUSG00000052751 |
| Gene Name |
replication initiator 1 |
| Synonyms |
Zfp464, AP4, E430037F08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01103
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48570817-48576016 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 48574887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145172
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009420]
[ENSMUST00000118229]
[ENSMUST00000135151]
[ENSMUST00000154010]
[ENSMUST00000163452]
[ENSMUST00000204121]
[ENSMUST00000204095]
[ENSMUST00000204521]
|
| AlphaFold |
Q5U4E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009420
|
| SMART Domains |
Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
| 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
|
| SMART Domains |
Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
| 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 benign
Transcript: ENSMUST00000135151
|
| SMART Domains |
Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
| 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
|
| SMART Domains |
Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751
| 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 benign
Transcript: ENSMUST00000163452
|
| SMART Domains |
Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
| 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: ENSMUST00000204121
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204879
|
| 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: ENSMUST00000204521
|
| Coding Region Coverage |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Calhm6 |
A |
T |
10: 34,002,361 (GRCm39) |
C241S |
probably benign |
Het |
| Cdh3 |
A |
G |
8: 107,281,937 (GRCm39) |
Y775C |
probably damaging |
Het |
| Clip2 |
A |
G |
5: 134,521,204 (GRCm39) |
S980P |
possibly damaging |
Het |
| Ddx51 |
C |
T |
5: 110,803,729 (GRCm39) |
A375V |
probably benign |
Het |
| Eif4e |
A |
G |
3: 138,253,412 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,495,577 (GRCm39) |
D588G |
probably benign |
Het |
| Fer1l4 |
C |
T |
2: 155,886,361 (GRCm39) |
|
probably null |
Het |
| Fli1 |
T |
C |
9: 32,335,236 (GRCm39) |
N399D |
probably benign |
Het |
| Gm20422 |
T |
C |
8: 70,195,776 (GRCm39) |
T168A |
possibly damaging |
Het |
| Kcnk12 |
C |
T |
17: 88,054,195 (GRCm39) |
G156R |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,902,283 (GRCm39) |
S309T |
probably damaging |
Het |
| Lcp1 |
T |
A |
14: 75,464,533 (GRCm39) |
|
probably null |
Het |
| Neo1 |
A |
G |
9: 58,788,082 (GRCm39) |
C1324R |
possibly damaging |
Het |
| Nin |
G |
A |
12: 70,103,532 (GRCm39) |
T236I |
probably damaging |
Het |
| Npy6r |
A |
G |
18: 44,408,585 (GRCm39) |
E2G |
probably benign |
Het |
| Numa1 |
T |
C |
7: 101,650,778 (GRCm39) |
V136A |
probably benign |
Het |
| Pcdhb8 |
A |
G |
18: 37,490,253 (GRCm39) |
K644E |
probably damaging |
Het |
| Polr3h |
T |
A |
15: 81,806,697 (GRCm39) |
N41Y |
probably damaging |
Het |
| Prrx1 |
T |
C |
1: 163,089,531 (GRCm39) |
T99A |
probably damaging |
Het |
| Prss1l |
T |
A |
6: 41,374,091 (GRCm39) |
V231D |
probably damaging |
Het |
| Rbm18 |
G |
A |
2: 36,024,184 (GRCm39) |
R26* |
probably null |
Het |
| Rnase1 |
T |
C |
14: 51,383,079 (GRCm39) |
N92D |
probably benign |
Het |
| Sidt1 |
A |
T |
16: 44,063,906 (GRCm39) |
C782* |
probably null |
Het |
| Slc27a6 |
T |
A |
18: 58,689,836 (GRCm39) |
S101T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,532,328 (GRCm39) |
N2862D |
possibly damaging |
Het |
| Tedc1 |
C |
T |
12: 113,126,808 (GRCm39) |
R357* |
probably null |
Het |
| Tril |
A |
G |
6: 53,796,023 (GRCm39) |
Y400H |
probably damaging |
Het |
| Trim34b |
T |
C |
7: 103,979,106 (GRCm39) |
C118R |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,243,918 (GRCm39) |
V784A |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2013-06-21 |
Incidental Mutation