Incidental Mutation 'R8732:Repin1'
ID |
662799 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Repin1
|
Ensembl Gene |
ENSMUSG00000052751 |
Gene Name |
replication initiator 1 |
Synonyms |
Zfp464, AP4, E430037F08Rik |
MMRRC Submission |
068580-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8732 (G1)
|
Quality Score |
95.0077 |
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: 99.3%
- 20x: 97.0%
|
Validation Efficiency |
98% (63/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
A |
T |
13: 41,981,622 (GRCm39) |
N82K |
probably damaging |
Het |
Ankrd36 |
T |
A |
11: 5,578,906 (GRCm39) |
S57T |
possibly damaging |
Het |
Aoc3 |
A |
G |
11: 101,222,643 (GRCm39) |
N293S |
probably benign |
Het |
Aup1 |
A |
T |
6: 83,033,602 (GRCm39) |
H302L |
probably damaging |
Het |
Bptf |
G |
A |
11: 106,931,206 (GRCm39) |
R277W |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,734,946 (GRCm39) |
I346V |
unknown |
Het |
Cd44 |
T |
C |
2: 102,664,645 (GRCm39) |
T519A |
possibly damaging |
Het |
Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
Ces2g |
T |
C |
8: 105,689,195 (GRCm39) |
V57A |
possibly damaging |
Het |
Cpt1b |
G |
C |
15: 89,308,628 (GRCm39) |
T100S |
probably benign |
Het |
D6Wsu163e |
A |
T |
6: 126,932,859 (GRCm39) |
I361F |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,083,449 (GRCm39) |
D153E |
possibly damaging |
Het |
Dync2h1 |
G |
T |
9: 7,168,326 (GRCm39) |
R430S |
probably damaging |
Het |
Dync2i2 |
T |
A |
2: 29,922,220 (GRCm39) |
T414S |
possibly damaging |
Het |
Efcab3 |
T |
A |
11: 104,695,100 (GRCm39) |
F1730L |
probably benign |
Het |
Eml5 |
C |
T |
12: 98,782,218 (GRCm39) |
G1405R |
probably damaging |
Het |
Ergic2 |
G |
A |
6: 148,102,975 (GRCm39) |
A91V |
probably damaging |
Het |
Fancl |
A |
T |
11: 26,419,754 (GRCm39) |
I336L |
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,223 (GRCm39) |
T165A |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,807,291 (GRCm39) |
I1662V |
possibly damaging |
Het |
Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
C |
A |
1: 91,875,239 (GRCm39) |
A911S |
probably damaging |
Het |
Ighd |
T |
C |
12: 113,378,183 (GRCm39) |
N139D |
|
Het |
Klhl22 |
T |
A |
16: 17,589,690 (GRCm39) |
L117Q |
probably damaging |
Het |
Kntc1 |
A |
G |
5: 123,928,180 (GRCm39) |
S1226G |
probably benign |
Het |
Lama5 |
A |
T |
2: 179,828,481 (GRCm39) |
C2126S |
probably damaging |
Het |
Ldlr |
A |
G |
9: 21,650,985 (GRCm39) |
I468V |
probably benign |
Het |
Lmtk3 |
G |
A |
7: 45,447,712 (GRCm39) |
A1253T |
unknown |
Het |
Lta |
T |
A |
17: 35,423,045 (GRCm39) |
N93Y |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,403,563 (GRCm39) |
|
probably null |
Het |
Mink1 |
A |
G |
11: 70,500,902 (GRCm39) |
|
probably null |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Ntpcr |
A |
G |
8: 126,472,074 (GRCm39) |
M132V |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,061 (GRCm39) |
S233P |
probably damaging |
Het |
Or52n1 |
A |
G |
7: 104,383,115 (GRCm39) |
M152T |
probably benign |
Het |
Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
Padi2 |
A |
G |
4: 140,660,590 (GRCm39) |
I357V |
probably benign |
Het |
Pax7 |
G |
T |
4: 139,506,920 (GRCm39) |
H372Q |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,949,541 (GRCm39) |
Y966H |
probably damaging |
Het |
Pde4b |
A |
C |
4: 102,412,822 (GRCm39) |
D199A |
probably null |
Het |
Pkd1l2 |
T |
C |
8: 117,792,311 (GRCm39) |
N494D |
probably benign |
Het |
Prdm2 |
G |
T |
4: 142,862,580 (GRCm39) |
Q237K |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,097,769 (GRCm39) |
L1091P |
probably damaging |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Rassf5 |
A |
G |
1: 131,106,264 (GRCm39) |
*414Q |
probably null |
Het |
Rrp9 |
C |
A |
9: 106,360,388 (GRCm39) |
T238K |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,259,882 (GRCm39) |
D630G |
probably benign |
Het |
Slc7a9 |
A |
G |
7: 35,156,443 (GRCm39) |
D295G |
probably benign |
Het |
Slco3a1 |
A |
T |
7: 73,934,054 (GRCm39) |
M706K |
possibly damaging |
Het |
Spag9 |
T |
C |
11: 93,962,514 (GRCm39) |
|
probably null |
Het |
Stam2 |
A |
T |
2: 52,590,180 (GRCm39) |
Y394N |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,510,442 (GRCm39) |
L341P |
probably damaging |
Het |
Steap3 |
A |
T |
1: 120,171,624 (GRCm39) |
H160Q |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,809 (GRCm39) |
C334S |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem74 |
A |
T |
15: 43,731,456 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,537,480 (GRCm39) |
K34816R |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,627,735 (GRCm39) |
N14736I |
probably damaging |
Het |
Vmn1r183 |
A |
G |
7: 23,754,890 (GRCm39) |
Q231R |
possibly damaging |
Het |
Vmn1r235 |
A |
G |
17: 21,482,439 (GRCm39) |
T255A |
probably damaging |
Het |
Wasl |
A |
T |
6: 24,619,209 (GRCm39) |
I437K |
unknown |
Het |
Ywhae |
A |
G |
11: 75,642,769 (GRCm39) |
N43D |
probably damaging |
Het |
Zfp583 |
A |
T |
7: 6,320,210 (GRCm39) |
Y267* |
probably null |
Het |
Zfp608 |
C |
T |
18: 55,121,072 (GRCm39) |
G172R |
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 |
|
R8731: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'- ACATAGGGTTTCTCGCCTGTG -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
Posted On |
2021-03-08 |