Incidental Mutation 'R7991:Repin1'
ID |
651728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Repin1
|
Ensembl Gene |
ENSMUSG00000052751 |
Gene Name |
replication initiator 1 |
Synonyms |
Zfp464, AP4, E430037F08Rik |
MMRRC Submission |
046032-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7991 (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: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
100% (64/64) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts19 |
A |
G |
18: 59,185,726 (GRCm39) |
D1200G |
probably damaging |
Het |
Adnp2 |
A |
G |
18: 80,172,537 (GRCm39) |
L624P |
probably damaging |
Het |
Akap9 |
A |
G |
5: 4,114,949 (GRCm39) |
|
probably null |
Het |
Ap2a2 |
A |
G |
7: 141,189,760 (GRCm39) |
Y249C |
probably damaging |
Het |
Asxl2 |
A |
T |
12: 3,534,531 (GRCm39) |
N243Y |
probably damaging |
Het |
Btnl4 |
A |
G |
17: 34,693,257 (GRCm39) |
S53P |
probably damaging |
Het |
Caly |
T |
C |
7: 139,651,513 (GRCm39) |
D116G |
possibly damaging |
Het |
Ccdc121rt2 |
G |
A |
5: 112,598,791 (GRCm39) |
R446H |
probably benign |
Het |
Ccdc168 |
T |
A |
1: 44,098,869 (GRCm39) |
H743L |
probably benign |
Het |
Ccdc81 |
G |
A |
7: 89,539,609 (GRCm39) |
A209V |
probably benign |
Het |
Cdc14a |
A |
G |
3: 116,101,887 (GRCm39) |
S347P |
probably benign |
Het |
Cdh9 |
G |
T |
15: 16,828,489 (GRCm39) |
A194S |
probably damaging |
Het |
Clca3a2 |
A |
G |
3: 144,519,756 (GRCm39) |
V206A |
probably benign |
Het |
Clca4a |
A |
T |
3: 144,658,500 (GRCm39) |
V905E |
possibly damaging |
Het |
Cluap1 |
A |
G |
16: 3,746,485 (GRCm39) |
E282G |
probably damaging |
Het |
Cmtm2b |
T |
A |
8: 105,056,419 (GRCm39) |
C109* |
probably null |
Het |
Crtac1 |
T |
C |
19: 42,322,399 (GRCm39) |
N114D |
probably benign |
Het |
Dennd1b |
T |
C |
1: 139,013,634 (GRCm39) |
Y168H |
|
Het |
Dock6 |
T |
C |
9: 21,757,858 (GRCm39) |
D82G |
probably damaging |
Het |
Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
Erfl |
G |
A |
7: 24,627,975 (GRCm39) |
P185S |
possibly damaging |
Het |
Fh1 |
T |
C |
1: 175,437,337 (GRCm39) |
Y254C |
probably damaging |
Het |
H2-Q1 |
T |
A |
17: 35,540,356 (GRCm39) |
L147Q |
probably damaging |
Het |
H3c8 |
T |
A |
13: 23,719,887 (GRCm39) |
M91K |
probably benign |
Het |
Hnrnpu |
A |
T |
1: 178,159,871 (GRCm39) |
D403E |
unknown |
Het |
Il34 |
T |
C |
8: 111,476,122 (GRCm39) |
K33E |
probably benign |
Het |
Klhl20 |
A |
G |
1: 160,934,434 (GRCm39) |
V195A |
possibly damaging |
Het |
Lair1 |
G |
T |
7: 4,031,969 (GRCm39) |
T46N |
probably damaging |
Het |
Lama4 |
A |
G |
10: 38,921,805 (GRCm39) |
E442G |
possibly damaging |
Het |
Lifr |
A |
T |
15: 7,202,963 (GRCm39) |
I400F |
possibly damaging |
Het |
Man2a1 |
T |
C |
17: 64,908,771 (GRCm39) |
I14T |
probably benign |
Het |
Or13p10 |
T |
A |
4: 118,523,489 (GRCm39) |
C258* |
probably null |
Het |
Or1ad8 |
T |
G |
11: 50,898,071 (GRCm39) |
S91A |
possibly damaging |
Het |
Or4z4 |
A |
C |
19: 12,076,190 (GRCm39) |
V271G |
possibly damaging |
Het |
Or51h7 |
A |
G |
7: 102,591,760 (GRCm39) |
L8P |
probably benign |
Het |
Or5an10 |
T |
A |
19: 12,275,639 (GRCm39) |
I286F |
probably damaging |
Het |
Or8s10 |
T |
C |
15: 98,335,419 (GRCm39) |
I23T |
probably benign |
Het |
Papss2 |
G |
T |
19: 32,629,403 (GRCm39) |
V331F |
possibly damaging |
Het |
Pcdha11 |
T |
C |
18: 37,145,909 (GRCm39) |
S667P |
probably damaging |
Het |
Pcolce |
A |
T |
5: 137,607,390 (GRCm39) |
S75T |
probably benign |
Het |
Phf20l1 |
A |
C |
15: 66,502,768 (GRCm39) |
D716A |
possibly damaging |
Het |
Pkd1 |
A |
G |
17: 24,791,595 (GRCm39) |
E1094G |
possibly damaging |
Het |
Ppm1h |
A |
G |
10: 122,618,152 (GRCm39) |
K104E |
probably benign |
Het |
Ppp6r3 |
T |
C |
19: 3,509,750 (GRCm39) |
Y195C |
probably benign |
Het |
Pramel6 |
T |
A |
2: 87,340,031 (GRCm39) |
L265Q |
probably benign |
Het |
Prc1 |
A |
T |
7: 79,961,969 (GRCm39) |
N489I |
possibly damaging |
Het |
Prss59 |
A |
C |
6: 40,905,444 (GRCm39) |
|
probably null |
Het |
Psg22 |
A |
C |
7: 18,460,861 (GRCm39) |
N497H |
probably damaging |
Het |
Pum3 |
T |
A |
19: 27,389,620 (GRCm39) |
I411F |
possibly damaging |
Het |
Rev3l |
A |
T |
10: 39,739,734 (GRCm39) |
I2861L |
possibly damaging |
Het |
Rsf1 |
A |
C |
7: 97,310,540 (GRCm39) |
K423N |
|
Het |
Samd4b |
A |
G |
7: 28,103,458 (GRCm39) |
I553T |
probably benign |
Het |
Septin3 |
A |
G |
15: 82,170,654 (GRCm39) |
E216G |
probably benign |
Het |
Sppl2c |
T |
C |
11: 104,078,640 (GRCm39) |
V480A |
possibly damaging |
Het |
Sppl2c |
A |
G |
11: 104,078,189 (GRCm39) |
T330A |
probably benign |
Het |
Srebf2 |
A |
G |
15: 82,088,253 (GRCm39) |
D1073G |
probably damaging |
Het |
Sv2c |
C |
T |
13: 96,224,797 (GRCm39) |
V171M |
probably damaging |
Het |
Tbc1d4 |
T |
A |
14: 101,845,715 (GRCm39) |
E61V |
probably damaging |
Het |
Tnc |
T |
A |
4: 63,926,983 (GRCm39) |
T848S |
probably benign |
Het |
Trmt5 |
A |
G |
12: 73,329,439 (GRCm39) |
Y240H |
probably damaging |
Het |
Trpv1 |
T |
C |
11: 73,132,583 (GRCm39) |
V399A |
possibly damaging |
Het |
Tstd2 |
T |
C |
4: 46,133,646 (GRCm39) |
T59A |
unknown |
Het |
Ubash3a |
T |
A |
17: 31,456,869 (GRCm39) |
L510M |
probably benign |
Het |
Ubr3 |
T |
A |
2: 69,783,200 (GRCm39) |
I713N |
probably damaging |
Het |
Upf3a |
A |
G |
8: 13,842,166 (GRCm39) |
E194G |
probably damaging |
Het |
Usp22 |
A |
T |
11: 61,065,588 (GRCm39) |
Y42N |
probably benign |
Het |
Vav3 |
T |
A |
3: 109,470,478 (GRCm39) |
C555S |
probably damaging |
Het |
Vmn1r210 |
T |
A |
13: 23,011,684 (GRCm39) |
M201L |
probably benign |
Het |
Wdr64 |
C |
A |
1: 175,554,051 (GRCm39) |
Q194K |
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 |
|
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'- ACACACATAGGGTTTCTCGCC -3'
Sequencing Primer
(F):5'- TACCCATGCACCGAGTGTGG -3'
(R):5'- TGGCTGCCCTGTGAGAAAC -3'
|
Posted On |
2020-09-15 |