Incidental Mutation 'R7781:Repin1'
ID |
599234 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Repin1
|
Ensembl Gene |
ENSMUSG00000052751 |
Gene Name |
replication initiator 1 |
Synonyms |
Zfp464, AP4, E430037F08Rik |
MMRRC Submission |
045837-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7781 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 99.2%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700064H15Rik |
G |
A |
3: 19,682,706 (GRCm39) |
P23S |
unknown |
Het |
Abcc6 |
C |
T |
7: 45,655,030 (GRCm39) |
R487Q |
probably damaging |
Het |
Abl1 |
A |
T |
2: 31,680,709 (GRCm39) |
T334S |
probably damaging |
Het |
Adam6b |
T |
C |
12: 113,454,962 (GRCm39) |
F593S |
probably damaging |
Het |
Alx1 |
A |
T |
10: 102,845,053 (GRCm39) |
M326K |
probably damaging |
Het |
Ankhd1 |
A |
T |
18: 36,758,258 (GRCm39) |
D984V |
probably damaging |
Het |
Asb15 |
A |
G |
6: 24,562,644 (GRCm39) |
N202S |
probably benign |
Het |
Ate1 |
A |
T |
7: 130,121,157 (GRCm39) |
V12E |
probably damaging |
Het |
Atl2 |
A |
T |
17: 80,167,260 (GRCm39) |
Y254N |
probably damaging |
Het |
Atp13a5 |
A |
G |
16: 29,116,226 (GRCm39) |
M630T |
probably benign |
Het |
Atp5po |
A |
T |
16: 91,723,417 (GRCm39) |
I124N |
possibly damaging |
Het |
BC005537 |
C |
T |
13: 24,987,382 (GRCm39) |
R7W |
possibly damaging |
Het |
Bicdl1 |
T |
C |
5: 115,799,546 (GRCm39) |
E181G |
probably damaging |
Het |
Bnipl |
C |
A |
3: 95,151,486 (GRCm39) |
W272L |
probably damaging |
Het |
Catsperd |
A |
T |
17: 56,971,072 (GRCm39) |
H712L |
probably benign |
Het |
Cilp2 |
T |
C |
8: 70,334,997 (GRCm39) |
D667G |
possibly damaging |
Het |
Cntn4 |
A |
C |
6: 106,500,575 (GRCm39) |
K351Q |
probably damaging |
Het |
Coq7 |
A |
T |
7: 118,125,111 (GRCm39) |
I171N |
probably damaging |
Het |
Csf2rb |
T |
A |
15: 78,228,771 (GRCm39) |
F371I |
probably benign |
Het |
Cyp3a13 |
C |
T |
5: 137,897,136 (GRCm39) |
V393M |
possibly damaging |
Het |
Dennd2a |
A |
G |
6: 39,470,000 (GRCm39) |
V564A |
probably damaging |
Het |
Ear14 |
T |
C |
14: 51,441,468 (GRCm39) |
L108P |
probably damaging |
Het |
Egflam |
C |
A |
15: 7,283,227 (GRCm39) |
V277F |
probably null |
Het |
Epb42 |
T |
G |
2: 120,864,916 (GRCm39) |
K58N |
probably benign |
Het |
Faap100 |
T |
C |
11: 120,265,089 (GRCm39) |
M596V |
probably benign |
Het |
Fbxw15 |
T |
A |
9: 109,386,330 (GRCm39) |
T270S |
possibly damaging |
Het |
Gabpb1 |
C |
T |
2: 126,481,120 (GRCm39) |
C342Y |
possibly damaging |
Het |
Gls |
A |
T |
1: 52,251,492 (GRCm39) |
C288* |
probably null |
Het |
Grm8 |
G |
T |
6: 27,285,786 (GRCm39) |
D875E |
probably benign |
Het |
Hdac4 |
C |
A |
1: 91,903,387 (GRCm39) |
R514L |
probably benign |
Het |
Hps4 |
T |
A |
5: 112,518,388 (GRCm39) |
N460K |
probably benign |
Het |
Inpp5d |
T |
C |
1: 87,627,394 (GRCm39) |
F565S |
probably damaging |
Het |
Kcnh5 |
C |
A |
12: 75,023,455 (GRCm39) |
V538F |
probably damaging |
Het |
Kcp |
T |
C |
6: 29,497,764 (GRCm39) |
N499S |
probably damaging |
Het |
Klk15 |
T |
C |
7: 43,588,980 (GRCm39) |
L244S |
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,518,440 (GRCm39) |
S266T |
possibly damaging |
Het |
Lemd3 |
A |
G |
10: 120,761,678 (GRCm39) |
F863L |
probably damaging |
Het |
Mga |
T |
A |
2: 119,747,838 (GRCm39) |
V663D |
probably damaging |
Het |
Naa15 |
A |
G |
3: 51,378,904 (GRCm39) |
|
probably null |
Het |
Ndrg3 |
C |
A |
2: 156,770,733 (GRCm39) |
G352* |
probably null |
Het |
Nr2f6 |
G |
T |
8: 71,828,595 (GRCm39) |
N233K |
possibly damaging |
Het |
Or4a79 |
A |
G |
2: 89,551,879 (GRCm39) |
F192S |
probably benign |
Het |
Plxnb2 |
T |
A |
15: 89,041,225 (GRCm39) |
M1774L |
possibly damaging |
Het |
Rpl23a |
G |
A |
11: 78,073,654 (GRCm39) |
R62W |
probably benign |
Het |
Rubcnl |
A |
G |
14: 75,269,530 (GRCm39) |
R63G |
probably damaging |
Het |
Ryr1 |
T |
C |
7: 28,767,055 (GRCm39) |
D2976G |
probably damaging |
Het |
Siglec1 |
A |
G |
2: 130,923,258 (GRCm39) |
Y496H |
probably damaging |
Het |
Sipa1l2 |
A |
G |
8: 126,218,566 (GRCm39) |
V257A |
possibly damaging |
Het |
Slc24a4 |
T |
C |
12: 102,201,112 (GRCm39) |
|
probably null |
Het |
Slc4a1ap |
T |
C |
5: 31,684,822 (GRCm39) |
S153P |
probably damaging |
Het |
Slc4a4 |
A |
T |
5: 89,376,791 (GRCm39) |
E1006V |
possibly damaging |
Het |
Svep1 |
T |
G |
4: 58,069,251 (GRCm39) |
E2845A |
possibly damaging |
Het |
Tlr1 |
T |
C |
5: 65,084,079 (GRCm39) |
N166S |
possibly damaging |
Het |
Tmem231 |
C |
T |
8: 112,644,922 (GRCm39) |
|
probably null |
Het |
Tsc2 |
C |
A |
17: 24,827,089 (GRCm39) |
L873F |
possibly damaging |
Het |
Unc13b |
T |
G |
4: 43,259,546 (GRCm39) |
S1403A |
possibly damaging |
Het |
Vmn1r7 |
A |
G |
6: 57,001,553 (GRCm39) |
F236L |
probably benign |
Het |
Vmn2r111 |
T |
C |
17: 22,789,714 (GRCm39) |
S431G |
probably benign |
Het |
Wdr7 |
A |
T |
18: 63,910,860 (GRCm39) |
K751* |
probably null |
Het |
Wdr90 |
C |
T |
17: 26,065,300 (GRCm39) |
R1652Q |
probably damaging |
Het |
Zcchc2 |
T |
C |
1: 105,931,895 (GRCm39) |
Y366H |
probably damaging |
Het |
Zfp1005 |
A |
T |
2: 150,109,577 (GRCm39) |
H89L |
possibly damaging |
Het |
Zfp607a |
C |
T |
7: 27,565,000 (GRCm39) |
R56C |
possibly 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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCATACATACCGGCGAGAAG -3'
(R):5'- CACATAGGGTTTCTCGCCTGTG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
Posted On |
2019-11-26 |