Incidental Mutation 'R8697:Repin1'
| ID |
668779 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Repin1
|
| Ensembl Gene |
ENSMUSG00000052751 |
| Gene Name |
replication initiator 1 |
| Synonyms |
Zfp464, AP4, E430037F08Rik |
| MMRRC Submission |
068551-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8697 (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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
C |
T |
1: 161,795,565 (GRCm39) |
A8T |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,351,441 (GRCm39) |
V1130A |
probably damaging |
Het |
| Ackr1 |
A |
G |
1: 173,159,775 (GRCm39) |
F248S |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,505,657 (GRCm39) |
R253Q |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,122,783 (GRCm39) |
I485V |
possibly damaging |
Het |
| Aqp7 |
T |
C |
4: 41,045,305 (GRCm39) |
E25G |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,307,524 (GRCm39) |
N1753D |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,570,865 (GRCm39) |
N1063K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,231,945 (GRCm39) |
V1801A |
probably benign |
Het |
| Ccdc171 |
T |
C |
4: 83,600,577 (GRCm39) |
W868R |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,710,779 (GRCm39) |
Y165H |
probably damaging |
Het |
| Clip4 |
G |
T |
17: 72,163,270 (GRCm39) |
G614V |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,838,986 (GRCm39) |
M236L |
probably damaging |
Het |
| Ctps1 |
T |
C |
4: 120,399,947 (GRCm39) |
D470G |
probably benign |
Het |
| Dmwd |
A |
C |
7: 18,812,113 (GRCm39) |
Q189P |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,976,985 (GRCm39) |
I1869T |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,497,998 (GRCm39) |
N361S |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,591,157 (GRCm39) |
H105Y |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,239,295 (GRCm39) |
Y603* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,294,811 (GRCm39) |
Y420C |
possibly damaging |
Het |
| Frem2 |
T |
A |
3: 53,433,249 (GRCm39) |
T2692S |
probably damaging |
Het |
| Gna12 |
T |
A |
5: 140,771,200 (GRCm39) |
R157S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,883 (GRCm39) |
S243T |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,819,320 (GRCm39) |
|
probably benign |
Het |
| Hoxd11 |
G |
A |
2: 74,513,013 (GRCm39) |
G93R |
unknown |
Het |
| Hydin |
A |
G |
8: 111,259,515 (GRCm39) |
I2496V |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,226,308 (GRCm39) |
I2455T |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,419,196 (GRCm39) |
R482* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,500,327 (GRCm39) |
Y2640C |
probably damaging |
Het |
| Kif20a |
C |
G |
18: 34,761,584 (GRCm39) |
Q326E |
probably benign |
Het |
| Lamp1 |
A |
T |
8: 13,224,448 (GRCm39) |
M371L |
possibly damaging |
Het |
| Lcn6 |
A |
G |
2: 25,567,166 (GRCm39) |
N56D |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,784 (GRCm39) |
V434A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,065,615 (GRCm39) |
N331S |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,700,558 (GRCm39) |
E138* |
probably null |
Het |
| Morc3 |
T |
C |
16: 93,667,908 (GRCm39) |
V762A |
probably benign |
Het |
| Ngef |
A |
T |
1: 87,417,459 (GRCm39) |
F279Y |
probably damaging |
Het |
| Or10ac1 |
A |
G |
6: 42,515,629 (GRCm39) |
V109A |
probably damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,200 (GRCm39) |
K196I |
possibly damaging |
Het |
| Padi4 |
GGAGCTCCTGA |
GGA |
4: 140,485,230 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
G |
A |
18: 37,441,832 (GRCm39) |
V381M |
probably benign |
Het |
| Ppm1d |
T |
C |
11: 85,227,986 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,877,055 (GRCm39) |
T807A |
probably benign |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,855 (GRCm39) |
K518E |
probably damaging |
Het |
| Skic3 |
A |
G |
13: 76,328,274 (GRCm39) |
S1441G |
probably damaging |
Het |
| Slc52a3 |
A |
G |
2: 151,846,396 (GRCm39) |
D119G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,628,042 (GRCm39) |
H379Y |
unknown |
Het |
| Ssr1 |
G |
T |
13: 38,167,425 (GRCm39) |
S246* |
probably null |
Het |
| Tars2 |
C |
T |
3: 95,653,374 (GRCm39) |
E509K |
possibly damaging |
Het |
| Tepsin |
G |
T |
11: 119,988,354 (GRCm39) |
Y34* |
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,205,831 (GRCm39) |
I488T |
probably damaging |
Het |
| Trgc2 |
A |
T |
13: 19,491,514 (GRCm39) |
M69K |
|
Het |
| Ttn |
A |
G |
2: 76,575,120 (GRCm39) |
W25258R |
probably damaging |
Het |
| Utp14b |
T |
C |
1: 78,644,244 (GRCm39) |
M714T |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,115,461 (GRCm39) |
H308Q |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,206,220 (GRCm39) |
D480G |
probably benign |
Het |
| Xcl1 |
C |
T |
1: 164,763,008 (GRCm39) |
V18I |
unknown |
Het |
| Zcchc2 |
C |
A |
1: 105,958,494 (GRCm39) |
N988K |
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 |
|
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 |
|
|
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'- GGACACACATAGGGTTTCTCGC -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- ACACATAGGGTTTCTCGCCTGTG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation