Incidental Mutation 'R8702:Repin1'
| ID |
669112 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Repin1
|
| Ensembl Gene |
ENSMUSG00000052751 |
| Gene Name |
replication initiator 1 |
| Synonyms |
Zfp464, AP4, E430037F08Rik |
| MMRRC Submission |
068556-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8702 (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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (33/33) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,297,415 (GRCm39) |
R501G |
probably damaging |
Het |
| Arhgap10 |
A |
G |
8: 77,985,732 (GRCm39) |
F712L |
probably benign |
Het |
| Arhgef10 |
C |
A |
8: 14,992,638 (GRCm39) |
A292E |
probably benign |
Het |
| Bub1b |
T |
A |
2: 118,468,975 (GRCm39) |
D913E |
probably benign |
Het |
| Cfap61 |
T |
C |
2: 146,042,710 (GRCm39) |
I1161T |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,152,674 (GRCm39) |
Y179H |
probably benign |
Het |
| Col4a3 |
A |
T |
1: 82,688,700 (GRCm39) |
T1348S |
unknown |
Het |
| Dck |
T |
A |
5: 88,926,272 (GRCm39) |
N239K |
probably damaging |
Het |
| Dmxl1 |
G |
A |
18: 49,992,202 (GRCm39) |
R316H |
probably benign |
Het |
| Efl1 |
A |
G |
7: 82,399,998 (GRCm39) |
|
probably null |
Het |
| Elac1 |
G |
T |
18: 73,872,291 (GRCm39) |
Q235K |
probably benign |
Het |
| Fer1l4 |
C |
A |
2: 155,861,310 (GRCm39) |
W1952L |
probably benign |
Het |
| Fyttd1 |
A |
G |
16: 32,704,529 (GRCm39) |
K47E |
probably damaging |
Het |
| Gm14418 |
A |
T |
2: 177,079,015 (GRCm39) |
Y327N |
probably damaging |
Het |
| Grxcr2 |
T |
C |
18: 42,131,754 (GRCm39) |
D105G |
possibly damaging |
Het |
| Iqub |
A |
T |
6: 24,461,914 (GRCm39) |
L506H |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,197,127 (GRCm39) |
T214A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,482,750 (GRCm39) |
C1440S |
probably damaging |
Het |
| Lrrtm2 |
G |
T |
18: 35,346,018 (GRCm39) |
A428D |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,085,717 (GRCm39) |
Y5506C |
probably damaging |
Het |
| Nrros |
T |
A |
16: 31,966,589 (GRCm39) |
|
probably benign |
Het |
| Or5d35 |
T |
C |
2: 87,855,839 (GRCm39) |
F258L |
possibly damaging |
Het |
| Or6c65 |
A |
T |
10: 129,604,284 (GRCm39) |
L306F |
probably benign |
Het |
| Oxct1 |
T |
C |
15: 4,183,243 (GRCm39) |
S485P |
probably benign |
Het |
| Pakap |
C |
T |
4: 57,709,489 (GRCm39) |
Q145* |
probably null |
Het |
| Pecr |
G |
T |
1: 72,306,661 (GRCm39) |
Q207K |
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,714,465 (GRCm39) |
Y2396* |
probably null |
Het |
| Serbp1 |
G |
T |
6: 67,244,156 (GRCm39) |
D26Y |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
| Tcaf2 |
A |
T |
6: 42,619,701 (GRCm39) |
S109T |
probably benign |
Het |
| Tpd52l2 |
C |
T |
2: 181,143,749 (GRCm39) |
H73Y |
probably damaging |
Het |
| Xkr6 |
G |
T |
14: 64,057,103 (GRCm39) |
W594L |
unknown |
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 |
|
|
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 |
|
|
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'- GGACACACATAGGGTTTCTCG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- ACACATAGGGTTTCTCGCCTGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation