Incidental Mutation 'R9465:Repin1'
| ID |
715119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Repin1
|
| Ensembl Gene |
ENSMUSG00000052751 |
| Gene Name |
replication initiator 1 |
| Synonyms |
Zfp464, AP4, E430037F08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
48570817-48576016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 48571877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 41
(K41E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118890
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009420]
[ENSMUST00000064744]
[ENSMUST00000118229]
[ENSMUST00000135151]
[ENSMUST00000154010]
[ENSMUST00000163452]
[ENSMUST00000204121]
[ENSMUST00000204521]
|
| AlphaFold |
Q5U4E2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000009420
|
| SMART Domains |
Protein: ENSMUSP00000009420
Gene: ENSMUSG00000052751
| 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: ENSMUST00000064744
|
| SMART Domains |
Protein: ENSMUSP00000064804
Gene: ENSMUSG00000052730
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
160 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000113548
Gene: ENSMUSG00000052751
AA Change: K38E
| 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: ENSMUST00000135151
AA Change: K41E
PolyPhen 2
Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000118890
Gene: ENSMUSG00000052751
AA Change: K41E
| 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 benign
Transcript: ENSMUST00000154010
|
| SMART Domains |
Protein: ENSMUSP00000121975
Gene: ENSMUSG00000052751
| 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 benign
Transcript: ENSMUST00000163452
|
| SMART Domains |
Protein: ENSMUSP00000132365
Gene: ENSMUSG00000052751
| 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 |
silent
Transcript: ENSMUST00000204121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204521
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427I04Rik |
A |
C |
4: 123,754,317 (GRCm39) |
H77P |
possibly damaging |
Het |
| Adcy7 |
G |
T |
8: 89,046,778 (GRCm39) |
R587L |
probably benign |
Het |
| Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
| Atg4a-ps |
C |
T |
3: 103,553,101 (GRCm39) |
R80H |
probably damaging |
Het |
| Btd |
G |
A |
14: 31,389,643 (GRCm39) |
D455N |
probably benign |
Het |
| Cadps |
A |
G |
14: 12,489,002 (GRCm38) |
S852P |
possibly damaging |
Het |
| Creb3l1 |
C |
T |
2: 91,822,231 (GRCm39) |
|
probably null |
Het |
| Cyp2j5 |
T |
C |
4: 96,522,551 (GRCm39) |
D341G |
probably damaging |
Het |
| Dennd5b |
A |
G |
6: 148,908,260 (GRCm39) |
V1011A |
probably damaging |
Het |
| Dlgap2 |
G |
A |
8: 14,828,226 (GRCm39) |
E545K |
probably damaging |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Gigyf2 |
A |
G |
1: 87,334,775 (GRCm39) |
D262G |
unknown |
Het |
| Gstm3 |
T |
C |
3: 107,873,431 (GRCm39) |
N180S |
possibly damaging |
Het |
| Helz2 |
G |
T |
2: 180,874,710 (GRCm39) |
T1928K |
probably benign |
Het |
| Hipk4 |
T |
A |
7: 27,229,160 (GRCm39) |
S537T |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Il24 |
T |
C |
1: 130,813,462 (GRCm39) |
Q45R |
probably benign |
Het |
| Kcnh1 |
G |
A |
1: 191,924,233 (GRCm39) |
G149E |
probably damaging |
Het |
| Krtap4-2 |
A |
G |
11: 99,525,391 (GRCm39) |
S154P |
unknown |
Het |
| Marveld3 |
T |
A |
8: 110,688,525 (GRCm39) |
H72L |
possibly damaging |
Het |
| Med1 |
T |
C |
11: 98,049,144 (GRCm39) |
T551A |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,624,839 (GRCm39) |
I2150N |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,782,726 (GRCm39) |
S170P |
possibly damaging |
Het |
| Or1j14 |
T |
C |
2: 36,417,898 (GRCm39) |
V158A |
probably benign |
Het |
| Or6aa1 |
T |
C |
7: 86,043,864 (GRCm39) |
I281V |
probably benign |
Het |
| Otog |
T |
C |
7: 45,955,299 (GRCm39) |
V563A |
possibly damaging |
Het |
| Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
| Phkb |
G |
A |
8: 86,623,059 (GRCm39) |
V128I |
probably damaging |
Het |
| Ppp2r3d |
A |
G |
9: 124,442,222 (GRCm38) |
L50P |
|
Het |
| Prl2c5 |
C |
T |
13: 13,360,531 (GRCm39) |
S66L |
probably benign |
Het |
| Ptbp1 |
T |
C |
10: 79,695,615 (GRCm39) |
S239P |
possibly damaging |
Het |
| Scrn1 |
A |
T |
6: 54,502,649 (GRCm39) |
I130N |
probably damaging |
Het |
| Spata31 |
T |
A |
13: 65,068,527 (GRCm39) |
L225Q |
probably damaging |
Het |
| Spred1 |
G |
A |
2: 116,983,648 (GRCm39) |
|
probably null |
Het |
| Taar7e |
A |
G |
10: 23,914,310 (GRCm39) |
R267G |
possibly damaging |
Het |
| Tgm5 |
T |
A |
2: 120,905,633 (GRCm39) |
Y174F |
probably damaging |
Het |
| Tmprss11f |
T |
C |
5: 86,685,876 (GRCm39) |
I164V |
probably damaging |
Het |
| Tomm22 |
T |
C |
15: 79,555,468 (GRCm39) |
L71P |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,577,531 (GRCm39) |
G24454V |
probably damaging |
Het |
| Wdr64 |
A |
G |
1: 175,618,823 (GRCm39) |
S739G |
possibly damaging |
Het |
| Zswim2 |
C |
T |
2: 83,746,275 (GRCm39) |
V388I |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGACACAAACCTGCCCTGG -3'
(R):5'- GGGGACTACAGACATGACTCAAC -3'
Sequencing Primer
(F):5'- AAACCTGCCCTGGCTTAGC -3'
(R):5'- GACTACAGACATGACTCAACCCCAC -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation