Incidental Mutation 'R8731:Repin1'
ID |
662750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Repin1
|
Ensembl Gene |
ENSMUSG00000052751 |
Gene Name |
replication initiator 1 |
Synonyms |
Zfp464, AP4, E430037F08Rik |
MMRRC Submission |
068579-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8731 (G1)
|
Quality Score |
104.008 |
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: 99.1%
- 20x: 95.9%
|
Validation Efficiency |
100% (48/48) |
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 |
Aadacl2 |
A |
T |
3: 59,932,367 (GRCm39) |
D294V |
probably benign |
Het |
Abcc8 |
T |
G |
7: 45,803,986 (GRCm39) |
Y396S |
probably damaging |
Het |
Ace |
T |
A |
11: 105,861,426 (GRCm39) |
F192I |
possibly damaging |
Het |
Apeh |
A |
G |
9: 107,964,422 (GRCm39) |
S494P |
probably benign |
Het |
Bod1 |
A |
G |
11: 31,619,242 (GRCm39) |
|
probably null |
Het |
Cap2 |
T |
C |
13: 46,800,006 (GRCm39) |
M404T |
probably benign |
Het |
Cc2d2a |
A |
T |
5: 43,892,788 (GRCm39) |
D1450V |
probably damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,163,747 (GRCm39) |
|
probably benign |
Het |
Clip1 |
A |
C |
5: 123,752,756 (GRCm39) |
S342A |
|
Het |
Cox10 |
A |
G |
11: 63,855,045 (GRCm39) |
F412S |
probably damaging |
Het |
Cracr2a |
T |
G |
6: 127,602,890 (GRCm39) |
|
probably null |
Het |
Dcaf7 |
T |
A |
11: 105,945,548 (GRCm39) |
M299K |
possibly damaging |
Het |
Dffb |
T |
C |
4: 154,059,101 (GRCm39) |
T59A |
possibly damaging |
Het |
Dgkd |
A |
G |
1: 87,844,535 (GRCm39) |
M234V |
possibly damaging |
Het |
Disp1 |
A |
T |
1: 182,869,072 (GRCm39) |
V1116E |
possibly damaging |
Het |
Dpysl3 |
C |
T |
18: 43,571,157 (GRCm39) |
C39Y |
probably damaging |
Het |
Dync1h1 |
T |
A |
12: 110,607,018 (GRCm39) |
V2565D |
possibly damaging |
Het |
Fam227b |
A |
T |
2: 125,968,898 (GRCm39) |
Y59N |
possibly damaging |
Het |
Gm21680 |
A |
T |
5: 26,173,230 (GRCm39) |
V210D |
probably damaging |
Het |
Gm57858 |
A |
T |
3: 36,089,434 (GRCm39) |
N163K |
probably benign |
Het |
Gnas |
T |
C |
2: 174,126,699 (GRCm39) |
V78A |
probably benign |
Het |
Gpr179 |
T |
C |
11: 97,234,555 (GRCm39) |
T509A |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,925,574 (GRCm39) |
M60T |
probably benign |
Het |
Llgl2 |
A |
G |
11: 115,742,016 (GRCm39) |
Q686R |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Mylk3 |
T |
G |
8: 86,085,634 (GRCm39) |
E300A |
probably benign |
Het |
Myo1b |
A |
C |
1: 51,799,570 (GRCm39) |
|
probably benign |
Het |
Myo9b |
T |
C |
8: 71,806,486 (GRCm39) |
|
probably null |
Het |
Nalcn |
T |
C |
14: 123,837,266 (GRCm39) |
I33V |
probably benign |
Het |
Nsl1 |
A |
G |
1: 190,814,609 (GRCm39) |
Y270C |
probably damaging |
Het |
Or5af1 |
C |
T |
11: 58,722,268 (GRCm39) |
A96V |
probably benign |
Het |
Otulin |
A |
G |
15: 27,608,928 (GRCm39) |
M205T |
probably benign |
Het |
Plch1 |
A |
T |
3: 63,605,059 (GRCm39) |
V1615E |
probably benign |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Scn3a |
A |
T |
2: 65,298,507 (GRCm39) |
Y1397* |
probably null |
Het |
Scrib |
A |
T |
15: 75,935,488 (GRCm39) |
H549Q |
probably benign |
Het |
Slc36a4 |
A |
G |
9: 15,631,048 (GRCm39) |
I56V |
possibly damaging |
Het |
Spata7 |
T |
A |
12: 98,624,541 (GRCm39) |
S148T |
probably damaging |
Het |
Stk31 |
T |
A |
6: 49,415,435 (GRCm39) |
L590Q |
probably benign |
Het |
Tanc1 |
T |
C |
2: 59,673,596 (GRCm39) |
V1567A |
probably benign |
Het |
Tspan33 |
T |
C |
6: 29,717,310 (GRCm39) |
F237S |
probably damaging |
Het |
Uhrf1 |
T |
A |
17: 56,629,363 (GRCm39) |
L737Q |
probably damaging |
Het |
Vmn2r2 |
A |
G |
3: 64,024,404 (GRCm39) |
F726L |
probably benign |
Het |
Vmn2r65 |
A |
T |
7: 84,589,447 (GRCm39) |
L823* |
probably null |
Het |
Vps11 |
T |
C |
9: 44,265,756 (GRCm39) |
N508D |
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 |
|
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 |
|
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'- CATAGGGTTTCTCGCCTGTG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
Posted On |
2021-03-08 |