Incidental Mutation 'IGL02027:Repin1'
| ID |
184214 |
| 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 # |
IGL02027
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
48570817-48576016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48573407 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 56
(H56R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132365
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009420]
[ENSMUST00000118229]
[ENSMUST00000135151]
[ENSMUST00000154010]
[ENSMUST00000163452]
[ENSMUST00000204121]
[ENSMUST00000204521]
|
| AlphaFold |
Q5U4E2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009420
AA Change: H56R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
AA Change: H56R
| 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: H109R
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: H109R
| 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: H112R
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: H112R
| 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 |
possibly damaging
Transcript: ENSMUST00000154010
AA Change: H56R
PolyPhen 2
Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751
AA Change: H56R
| 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: H56R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
AA Change: H56R
| 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: ENSMUST00000204121
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adipor1 |
A |
G |
1: 134,358,923 (GRCm39) |
T312A |
probably benign |
Het |
| Begain |
T |
G |
12: 109,000,235 (GRCm39) |
K384Q |
possibly damaging |
Het |
| C2cd6 |
T |
C |
1: 59,099,763 (GRCm39) |
I393V |
probably benign |
Het |
| Catsperz |
A |
G |
19: 6,902,664 (GRCm39) |
V5A |
probably benign |
Het |
| Cbx1 |
T |
A |
11: 96,692,315 (GRCm39) |
F67L |
probably damaging |
Het |
| Ccn2 |
A |
G |
10: 24,472,307 (GRCm39) |
S117G |
probably damaging |
Het |
| Ccn3 |
T |
C |
15: 54,611,330 (GRCm39) |
V155A |
probably damaging |
Het |
| Cerkl |
T |
C |
2: 79,171,630 (GRCm39) |
|
probably benign |
Het |
| Cubn |
G |
T |
2: 13,292,405 (GRCm39) |
D3259E |
probably damaging |
Het |
| Cyp2u1 |
A |
G |
3: 131,091,600 (GRCm39) |
Y307H |
probably damaging |
Het |
| Dcaf6 |
A |
C |
1: 165,251,910 (GRCm39) |
D71E |
probably damaging |
Het |
| Dclk3 |
A |
T |
9: 111,296,911 (GRCm39) |
K152* |
probably null |
Het |
| Fcgbp |
G |
A |
7: 27,774,629 (GRCm39) |
D68N |
probably damaging |
Het |
| Gm6576 |
A |
G |
15: 27,025,952 (GRCm39) |
|
noncoding transcript |
Het |
| Has2 |
T |
C |
15: 56,531,567 (GRCm39) |
T383A |
probably damaging |
Het |
| Htr1f |
T |
A |
16: 64,746,684 (GRCm39) |
K203* |
probably null |
Het |
| Il36g |
A |
T |
2: 24,082,797 (GRCm39) |
I191L |
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,994,649 (GRCm39) |
I116T |
possibly damaging |
Het |
| Itga1 |
C |
T |
13: 115,126,591 (GRCm39) |
|
probably null |
Het |
| Kif5b |
T |
C |
18: 6,209,089 (GRCm39) |
D891G |
possibly damaging |
Het |
| Krt74 |
T |
C |
15: 101,665,229 (GRCm39) |
|
noncoding transcript |
Het |
| Lama3 |
A |
G |
18: 12,649,570 (GRCm39) |
K1776E |
probably damaging |
Het |
| Lats1 |
T |
C |
10: 7,588,712 (GRCm39) |
S1110P |
probably benign |
Het |
| Lipo3 |
T |
A |
19: 33,557,919 (GRCm39) |
K158* |
probably null |
Het |
| Lrrc9 |
T |
A |
12: 72,517,108 (GRCm39) |
|
probably benign |
Het |
| Met |
A |
G |
6: 17,563,726 (GRCm39) |
|
probably benign |
Het |
| Mmp13 |
A |
G |
9: 7,272,955 (GRCm39) |
Y105C |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,446,638 (GRCm39) |
E1151G |
probably damaging |
Het |
| Nptx1 |
T |
C |
11: 119,435,422 (GRCm39) |
D298G |
possibly damaging |
Het |
| Odad4 |
C |
T |
11: 100,460,728 (GRCm39) |
T495M |
probably damaging |
Het |
| Pdlim1 |
T |
C |
19: 40,231,910 (GRCm39) |
N156S |
probably benign |
Het |
| Pdzk1 |
A |
G |
3: 96,761,989 (GRCm39) |
|
probably benign |
Het |
| Pex5 |
A |
G |
6: 124,375,847 (GRCm39) |
S448P |
probably benign |
Het |
| Polr3e |
G |
T |
7: 120,530,186 (GRCm39) |
R124L |
probably damaging |
Het |
| Ppp2r2c |
C |
T |
5: 37,109,816 (GRCm39) |
R392C |
probably damaging |
Het |
| Prpf4b |
T |
C |
13: 35,073,554 (GRCm39) |
I543T |
probably benign |
Het |
| Prr27 |
A |
G |
5: 87,991,302 (GRCm39) |
S305G |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,611,998 (GRCm39) |
L408H |
probably damaging |
Het |
| Sbf2 |
T |
A |
7: 110,060,348 (GRCm39) |
Q205H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,379,863 (GRCm39) |
P990S |
probably benign |
Het |
| Slc33a1 |
G |
T |
3: 63,855,562 (GRCm39) |
P361Q |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,706,483 (GRCm39) |
|
probably benign |
Het |
| Vmn1r16 |
T |
C |
6: 57,300,044 (GRCm39) |
T193A |
possibly damaging |
Het |
| Vmn1r5 |
T |
A |
6: 56,962,640 (GRCm39) |
I105K |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,387,462 (GRCm39) |
|
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 |
|
|
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 |
2014-05-07 |
Incidental Mutation