Incidental Mutation 'R8089:Repin1'
| ID |
629837 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Repin1
|
| Ensembl Gene |
ENSMUSG00000052751 |
| Gene Name |
replication initiator 1 |
| Synonyms |
Zfp464, AP4, E430037F08Rik |
| MMRRC Submission |
067522-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8089 (G1)
|
| Quality Score |
195.009 |
|
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: 94.7%
|
| Validation Efficiency |
93% (54/58) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
C |
T |
2: 69,104,383 (GRCm39) |
V768I |
probably benign |
Het |
| Abcc8 |
G |
A |
7: 45,757,780 (GRCm39) |
T1323I |
probably benign |
Het |
| Adamtsl2 |
A |
G |
2: 26,994,809 (GRCm39) |
M828V |
probably benign |
Het |
| Agmo |
A |
G |
12: 37,397,306 (GRCm39) |
D153G |
probably benign |
Het |
| Akap13 |
T |
A |
7: 75,260,340 (GRCm39) |
V185D |
possibly damaging |
Het |
| Asic1 |
A |
G |
15: 99,595,968 (GRCm39) |
N414D |
probably damaging |
Het |
| Bin1 |
T |
A |
18: 32,562,236 (GRCm39) |
|
probably null |
Het |
| Ccar1 |
C |
A |
10: 62,626,770 (GRCm39) |
M1I |
probably null |
Het |
| Cdh26 |
T |
A |
2: 178,099,370 (GRCm39) |
|
probably null |
Het |
| Csmd3 |
C |
T |
15: 47,532,603 (GRCm39) |
D1620N |
|
Het |
| Dennd4a |
A |
T |
9: 64,756,457 (GRCm39) |
N204I |
probably damaging |
Het |
| Dgkb |
G |
A |
12: 38,234,949 (GRCm39) |
S438N |
probably damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,021,897 (GRCm39) |
M1604T |
probably damaging |
Het |
| Fhad1 |
T |
A |
4: 141,684,971 (GRCm39) |
D456V |
probably damaging |
Het |
| Gcfc2 |
C |
T |
6: 81,902,771 (GRCm39) |
T86M |
probably damaging |
Het |
| Idua |
T |
A |
5: 108,829,646 (GRCm39) |
M503K |
probably damaging |
Het |
| Ift70b |
T |
C |
2: 75,767,647 (GRCm39) |
T369A |
possibly damaging |
Het |
| Ighm |
T |
C |
12: 113,384,854 (GRCm39) |
|
probably benign |
Het |
| Kmt2d |
A |
T |
15: 98,740,750 (GRCm39) |
S4676T |
unknown |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lmtk2 |
G |
A |
5: 144,093,718 (GRCm39) |
V232M |
probably benign |
Het |
| Map3k13 |
T |
C |
16: 21,722,567 (GRCm39) |
V243A |
possibly damaging |
Het |
| Moxd1 |
A |
G |
10: 24,157,417 (GRCm39) |
T350A |
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,537,372 (GRCm39) |
W1175R |
probably damaging |
Het |
| Or10u4 |
A |
T |
10: 129,802,566 (GRCm39) |
M1K |
probably null |
Het |
| Or5h27 |
T |
G |
16: 59,006,073 (GRCm39) |
I258L |
unknown |
Het |
| Or8g26 |
T |
A |
9: 39,095,927 (GRCm39) |
V148E |
probably damaging |
Het |
| Pacsin2 |
A |
G |
15: 83,263,897 (GRCm39) |
I380T |
probably benign |
Het |
| Plcd1 |
A |
C |
9: 118,905,060 (GRCm39) |
C214G |
possibly damaging |
Het |
| Poglut3 |
C |
T |
9: 53,307,262 (GRCm39) |
A402V |
probably benign |
Het |
| Ptprm |
C |
A |
17: 66,990,483 (GRCm39) |
W1385L |
possibly damaging |
Het |
| Rab22a |
C |
T |
2: 173,530,013 (GRCm39) |
Q64* |
probably null |
Het |
| Rasa2 |
G |
T |
9: 96,435,177 (GRCm39) |
H604Q |
probably benign |
Het |
| Rasal1 |
G |
A |
5: 120,809,643 (GRCm39) |
G516D |
probably damaging |
Het |
| Rasgrp3 |
A |
T |
17: 75,804,056 (GRCm39) |
I120L |
possibly damaging |
Het |
| Rgs12 |
T |
C |
5: 35,177,692 (GRCm39) |
I742T |
probably damaging |
Het |
| Scyl3 |
A |
G |
1: 163,763,996 (GRCm39) |
T121A |
possibly damaging |
Het |
| Six5 |
T |
G |
7: 18,828,797 (GRCm39) |
F79C |
probably damaging |
Het |
| Tbx3 |
G |
A |
5: 119,818,634 (GRCm39) |
R423H |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,424 (GRCm39) |
T104M |
probably benign |
Het |
| Tmem135 |
A |
G |
7: 88,805,703 (GRCm39) |
C234R |
probably damaging |
Het |
| Tnxb |
C |
G |
17: 34,891,763 (GRCm39) |
A702G |
unknown |
Het |
| Tspan1 |
T |
C |
4: 116,021,532 (GRCm39) |
K83R |
probably null |
Het |
| Ttn |
C |
T |
2: 76,728,406 (GRCm39) |
|
probably null |
Het |
| Usp5 |
A |
T |
6: 124,797,373 (GRCm39) |
|
probably null |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,194 (GRCm39) |
Y270F |
possibly damaging |
Het |
| Vmn2r110 |
G |
A |
17: 20,803,807 (GRCm39) |
T256I |
probably benign |
Het |
| Zfp831 |
T |
A |
2: 174,486,717 (GRCm39) |
L464Q |
possibly damaging |
Het |
| Zscan4-ps3 |
C |
A |
7: 11,346,659 (GRCm39) |
H232N |
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 |
|
|
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 |
|
|
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'- CACATAGGGTTTCTCGCCTG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation