Incidental Mutation 'R6272:Zfp451'
ID |
507372 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp451
|
Ensembl Gene |
ENSMUSG00000042197 |
Gene Name |
zinc finger protein 451 |
Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
MMRRC Submission |
044442-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6272 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
33800626-33853676 bp(-) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
T to C
at 33842325 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141813
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000044455]
[ENSMUST00000115167]
[ENSMUST00000139143]
[ENSMUST00000194656]
|
AlphaFold |
Q8C0P7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019861
|
SMART Domains |
Protein: ENSMUSP00000019861 Gene: ENSMUSG00000042197
Domain | Start | End | E-Value | Type |
coiled coil region
|
81 |
109 |
N/A |
INTRINSIC |
ZnF_C2H2
|
169 |
195 |
1.63e1 |
SMART |
ZnF_C2H2
|
212 |
232 |
1.18e2 |
SMART |
ZnF_C2H2
|
253 |
277 |
1.73e0 |
SMART |
ZnF_C2H2
|
315 |
335 |
2.03e2 |
SMART |
ZnF_C2H2
|
362 |
385 |
3.75e1 |
SMART |
ZnF_C2H2
|
494 |
517 |
2.91e-2 |
SMART |
ZnF_C2H2
|
527 |
550 |
5.4e1 |
SMART |
low complexity region
|
558 |
577 |
N/A |
INTRINSIC |
ZnF_C2H2
|
604 |
629 |
1.55e1 |
SMART |
ZnF_C2H2
|
634 |
657 |
2.29e0 |
SMART |
ZnF_C2H2
|
665 |
687 |
1.64e-1 |
SMART |
ZnF_C2H2
|
751 |
774 |
6.75e0 |
SMART |
ZnF_C2H2
|
787 |
810 |
4.94e0 |
SMART |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000044455
AA Change: T186A
|
SMART Domains |
Protein: ENSMUSP00000044372 Gene: ENSMUSG00000042197 AA Change: T186A
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
98 |
N/A |
INTRINSIC |
Pfam:LAP2alpha
|
344 |
499 |
2.5e-11 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115167
|
SMART Domains |
Protein: ENSMUSP00000110821 Gene: ENSMUSG00000042197
Domain | Start | End | E-Value | Type |
coiled coil region
|
81 |
109 |
N/A |
INTRINSIC |
ZnF_C2H2
|
169 |
195 |
1.63e1 |
SMART |
ZnF_C2H2
|
212 |
232 |
1.18e2 |
SMART |
ZnF_C2H2
|
253 |
277 |
1.73e0 |
SMART |
ZnF_C2H2
|
315 |
335 |
2.03e2 |
SMART |
ZnF_C2H2
|
362 |
385 |
3.75e1 |
SMART |
ZnF_C2H2
|
494 |
517 |
2.91e-2 |
SMART |
ZnF_C2H2
|
527 |
550 |
5.4e1 |
SMART |
low complexity region
|
558 |
577 |
N/A |
INTRINSIC |
ZnF_C2H2
|
604 |
629 |
1.55e1 |
SMART |
ZnF_C2H2
|
634 |
657 |
2.29e0 |
SMART |
ZnF_C2H2
|
665 |
687 |
1.64e-1 |
SMART |
ZnF_C2H2
|
751 |
774 |
6.75e0 |
SMART |
ZnF_C2H2
|
787 |
810 |
4.94e0 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130376
|
SMART Domains |
Protein: ENSMUSP00000118047 Gene: ENSMUSG00000042197
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
30 |
56 |
1.63e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000139143
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140163
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194656
|
SMART Domains |
Protein: ENSMUSP00000141813 Gene: ENSMUSG00000042197
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
127 |
153 |
6.9e-2 |
SMART |
ZnF_C2H2
|
170 |
190 |
5e-1 |
SMART |
ZnF_C2H2
|
211 |
235 |
7.2e-3 |
SMART |
|
Meta Mutation Damage Score |
0.1158 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
Validation Efficiency |
98% (55/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgra3 |
A |
T |
5: 50,166,791 (GRCm39) |
M187K |
possibly damaging |
Het |
Adgrg3 |
A |
G |
8: 95,762,889 (GRCm39) |
I189V |
noncoding transcript |
Het |
Ampd1 |
A |
G |
3: 102,992,699 (GRCm39) |
K147R |
possibly damaging |
Het |
Apbb2 |
T |
C |
5: 66,468,415 (GRCm39) |
T561A |
probably damaging |
Het |
Arfgef3 |
A |
T |
10: 18,522,711 (GRCm39) |
D438E |
probably benign |
Het |
Atxn1 |
T |
A |
13: 45,721,238 (GRCm39) |
Q219L |
possibly damaging |
Het |
AW551984 |
A |
T |
9: 39,509,333 (GRCm39) |
D269E |
probably benign |
Het |
Cryab |
A |
G |
9: 50,665,825 (GRCm39) |
K72R |
possibly damaging |
Het |
Dbn1 |
G |
A |
13: 55,622,917 (GRCm39) |
A522V |
probably benign |
Het |
Dip2a |
A |
T |
10: 76,122,241 (GRCm39) |
*158R |
probably null |
Het |
Edrf1 |
C |
T |
7: 133,239,537 (GRCm39) |
|
probably benign |
Het |
Ern2 |
A |
T |
7: 121,775,869 (GRCm39) |
D408E |
probably benign |
Het |
F830016B08Rik |
T |
C |
18: 60,433,150 (GRCm39) |
S78P |
probably damaging |
Het |
Fah |
C |
A |
7: 84,244,753 (GRCm39) |
G137C |
probably damaging |
Het |
Foxd3 |
A |
G |
4: 99,544,977 (GRCm39) |
D39G |
probably damaging |
Het |
Gprin3 |
G |
A |
6: 59,330,316 (GRCm39) |
Q664* |
probably null |
Het |
H2-Ob |
T |
C |
17: 34,461,618 (GRCm39) |
I119T |
probably benign |
Het |
H3c6 |
A |
T |
13: 23,746,400 (GRCm39) |
V47E |
probably damaging |
Het |
Hmgcll1 |
G |
A |
9: 76,037,627 (GRCm39) |
G174R |
probably damaging |
Het |
Kbtbd11 |
T |
A |
8: 15,079,118 (GRCm39) |
C572* |
probably null |
Het |
Kynu |
A |
T |
2: 43,525,001 (GRCm39) |
N315Y |
probably benign |
Het |
Map1lc3b |
G |
A |
8: 122,323,429 (GRCm39) |
E100K |
probably benign |
Het |
Matn2 |
T |
A |
15: 34,355,753 (GRCm39) |
Q33L |
possibly damaging |
Het |
Mettl8 |
T |
C |
2: 70,806,419 (GRCm39) |
|
probably null |
Het |
Neto1 |
A |
T |
18: 86,512,940 (GRCm39) |
N312Y |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,400,253 (GRCm39) |
D493G |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,077,331 (GRCm39) |
E889G |
possibly damaging |
Het |
Or13l2 |
A |
G |
3: 97,318,207 (GRCm39) |
F97L |
probably benign |
Het |
Or14c42-ps1 |
A |
G |
7: 86,211,081 (GRCm39) |
Y47C |
unknown |
Het |
Or2y13 |
C |
A |
11: 49,414,953 (GRCm39) |
S134R |
possibly damaging |
Het |
Or5ac25 |
A |
C |
16: 59,181,948 (GRCm39) |
M211R |
possibly damaging |
Het |
Or5w20 |
G |
A |
2: 87,727,001 (GRCm39) |
V153I |
probably benign |
Het |
Or6k2 |
C |
T |
1: 173,986,741 (GRCm39) |
T134I |
probably benign |
Het |
Or8g4 |
A |
T |
9: 39,661,816 (GRCm39) |
M45L |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
Phc2 |
A |
G |
4: 128,603,440 (GRCm39) |
Y190C |
probably damaging |
Het |
Platr25 |
T |
C |
13: 62,820,811 (GRCm39) |
T347A |
possibly damaging |
Het |
Plec |
T |
C |
15: 76,059,053 (GRCm39) |
E3655G |
probably damaging |
Het |
Plekhg3 |
A |
T |
12: 76,623,619 (GRCm39) |
Q954L |
probably benign |
Het |
Pnpla1 |
G |
A |
17: 29,100,342 (GRCm39) |
G403E |
probably benign |
Het |
Prdm4 |
G |
A |
10: 85,743,694 (GRCm39) |
T187I |
possibly damaging |
Het |
Prg4 |
T |
C |
1: 150,330,517 (GRCm39) |
|
probably benign |
Het |
Prpf18 |
G |
A |
2: 4,638,258 (GRCm39) |
R312W |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,305,374 (GRCm39) |
V535D |
probably damaging |
Het |
Rtcb |
A |
T |
10: 85,791,638 (GRCm39) |
N39K |
probably damaging |
Het |
Slc4a3 |
G |
A |
1: 75,531,341 (GRCm39) |
|
probably null |
Het |
Szt2 |
A |
C |
4: 118,231,487 (GRCm39) |
|
probably benign |
Het |
Tasor2 |
C |
T |
13: 3,631,891 (GRCm39) |
R870H |
possibly damaging |
Het |
Tfap2e |
A |
T |
4: 126,615,657 (GRCm39) |
V259D |
probably damaging |
Het |
Trav19 |
A |
G |
14: 54,083,255 (GRCm39) |
D110G |
probably damaging |
Het |
Ttc17 |
A |
C |
2: 94,189,100 (GRCm39) |
C749W |
probably damaging |
Het |
Ttc8 |
A |
G |
12: 98,948,753 (GRCm39) |
K490E |
possibly damaging |
Het |
Ube4b |
A |
G |
4: 149,471,590 (GRCm39) |
S99P |
probably damaging |
Het |
Ubqln3 |
C |
T |
7: 103,791,385 (GRCm39) |
R235H |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,949,242 (GRCm39) |
D554V |
probably damaging |
Het |
Vmn2r70 |
A |
T |
7: 85,208,194 (GRCm39) |
V761E |
probably damaging |
Het |
Vmn2r97 |
T |
C |
17: 19,167,861 (GRCm39) |
I705T |
possibly damaging |
Het |
Wwox |
G |
A |
8: 115,215,692 (GRCm39) |
C155Y |
probably damaging |
Het |
Zfp582 |
C |
T |
7: 6,356,844 (GRCm39) |
P219L |
probably damaging |
Het |
|
Other mutations in Zfp451 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00225:Zfp451
|
APN |
1 |
33,825,621 (GRCm39) |
intron |
probably benign |
|
IGL00423:Zfp451
|
APN |
1 |
33,816,660 (GRCm39) |
missense |
probably benign |
0.44 |
IGL00925:Zfp451
|
APN |
1 |
33,815,342 (GRCm39) |
unclassified |
probably benign |
|
IGL00971:Zfp451
|
APN |
1 |
33,822,234 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01521:Zfp451
|
APN |
1 |
33,816,412 (GRCm39) |
splice site |
probably null |
|
IGL01672:Zfp451
|
APN |
1 |
33,801,247 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01826:Zfp451
|
APN |
1 |
33,821,243 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02298:Zfp451
|
APN |
1 |
33,812,002 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02343:Zfp451
|
APN |
1 |
33,815,574 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03150:Zfp451
|
APN |
1 |
33,816,535 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03257:Zfp451
|
APN |
1 |
33,816,129 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0006:Zfp451
|
UTSW |
1 |
33,841,861 (GRCm39) |
intron |
probably benign |
|
R0068:Zfp451
|
UTSW |
1 |
33,816,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R0068:Zfp451
|
UTSW |
1 |
33,816,706 (GRCm39) |
missense |
probably damaging |
1.00 |
R0358:Zfp451
|
UTSW |
1 |
33,816,810 (GRCm39) |
missense |
probably damaging |
1.00 |
R0441:Zfp451
|
UTSW |
1 |
33,816,126 (GRCm39) |
missense |
probably damaging |
0.96 |
R0483:Zfp451
|
UTSW |
1 |
33,809,991 (GRCm39) |
splice site |
probably benign |
|
R0745:Zfp451
|
UTSW |
1 |
33,809,929 (GRCm39) |
nonsense |
probably null |
|
R1469:Zfp451
|
UTSW |
1 |
33,808,894 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1469:Zfp451
|
UTSW |
1 |
33,808,894 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1486:Zfp451
|
UTSW |
1 |
33,816,808 (GRCm39) |
missense |
probably damaging |
0.99 |
R1774:Zfp451
|
UTSW |
1 |
33,852,849 (GRCm39) |
missense |
probably benign |
0.02 |
R1929:Zfp451
|
UTSW |
1 |
33,822,937 (GRCm39) |
missense |
probably benign |
0.12 |
R1929:Zfp451
|
UTSW |
1 |
33,821,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R1933:Zfp451
|
UTSW |
1 |
33,816,903 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Zfp451
|
UTSW |
1 |
33,818,248 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2225:Zfp451
|
UTSW |
1 |
33,809,988 (GRCm39) |
splice site |
probably benign |
|
R2372:Zfp451
|
UTSW |
1 |
33,819,133 (GRCm39) |
splice site |
probably null |
|
R3923:Zfp451
|
UTSW |
1 |
33,818,126 (GRCm39) |
missense |
probably null |
1.00 |
R4295:Zfp451
|
UTSW |
1 |
33,816,836 (GRCm39) |
missense |
probably damaging |
0.99 |
R4409:Zfp451
|
UTSW |
1 |
33,816,494 (GRCm39) |
missense |
probably damaging |
1.00 |
R4617:Zfp451
|
UTSW |
1 |
33,841,752 (GRCm39) |
intron |
probably benign |
|
R4757:Zfp451
|
UTSW |
1 |
33,804,939 (GRCm39) |
missense |
probably damaging |
0.98 |
R4777:Zfp451
|
UTSW |
1 |
33,821,186 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4906:Zfp451
|
UTSW |
1 |
33,844,465 (GRCm39) |
missense |
probably damaging |
1.00 |
R4964:Zfp451
|
UTSW |
1 |
33,816,942 (GRCm39) |
missense |
probably damaging |
1.00 |
R5128:Zfp451
|
UTSW |
1 |
33,842,014 (GRCm39) |
intron |
probably benign |
|
R5129:Zfp451
|
UTSW |
1 |
33,842,014 (GRCm39) |
intron |
probably benign |
|
R5383:Zfp451
|
UTSW |
1 |
33,852,887 (GRCm39) |
missense |
probably damaging |
1.00 |
R5446:Zfp451
|
UTSW |
1 |
33,816,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R6154:Zfp451
|
UTSW |
1 |
33,842,627 (GRCm39) |
intron |
probably benign |
|
R6228:Zfp451
|
UTSW |
1 |
33,842,219 (GRCm39) |
intron |
probably benign |
|
R6296:Zfp451
|
UTSW |
1 |
33,808,898 (GRCm39) |
nonsense |
probably null |
|
R6321:Zfp451
|
UTSW |
1 |
33,852,816 (GRCm39) |
missense |
probably damaging |
1.00 |
R6445:Zfp451
|
UTSW |
1 |
33,812,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R6528:Zfp451
|
UTSW |
1 |
33,816,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R6562:Zfp451
|
UTSW |
1 |
33,801,260 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6739:Zfp451
|
UTSW |
1 |
33,842,675 (GRCm39) |
intron |
probably benign |
|
R6911:Zfp451
|
UTSW |
1 |
33,842,537 (GRCm39) |
intron |
probably benign |
|
R7042:Zfp451
|
UTSW |
1 |
33,816,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R7044:Zfp451
|
UTSW |
1 |
33,841,248 (GRCm39) |
intron |
probably benign |
|
R7071:Zfp451
|
UTSW |
1 |
33,815,825 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7082:Zfp451
|
UTSW |
1 |
33,811,972 (GRCm39) |
critical splice donor site |
probably null |
|
R7123:Zfp451
|
UTSW |
1 |
33,815,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R7149:Zfp451
|
UTSW |
1 |
33,816,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R7179:Zfp451
|
UTSW |
1 |
33,841,651 (GRCm39) |
missense |
unknown |
|
R7185:Zfp451
|
UTSW |
1 |
33,808,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R7228:Zfp451
|
UTSW |
1 |
33,842,475 (GRCm39) |
missense |
unknown |
|
R7402:Zfp451
|
UTSW |
1 |
33,852,843 (GRCm39) |
missense |
probably benign |
|
R7462:Zfp451
|
UTSW |
1 |
33,816,094 (GRCm39) |
missense |
probably damaging |
1.00 |
R7488:Zfp451
|
UTSW |
1 |
33,818,221 (GRCm39) |
missense |
probably benign |
0.22 |
R7507:Zfp451
|
UTSW |
1 |
33,808,840 (GRCm39) |
missense |
probably damaging |
1.00 |
R7774:Zfp451
|
UTSW |
1 |
33,844,474 (GRCm39) |
missense |
probably benign |
0.20 |
R7835:Zfp451
|
UTSW |
1 |
33,812,060 (GRCm39) |
missense |
probably damaging |
1.00 |
R7979:Zfp451
|
UTSW |
1 |
33,821,219 (GRCm39) |
missense |
probably benign |
0.01 |
R8123:Zfp451
|
UTSW |
1 |
33,801,248 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8137:Zfp451
|
UTSW |
1 |
33,821,156 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8938:Zfp451
|
UTSW |
1 |
33,842,063 (GRCm39) |
intron |
probably benign |
|
R8974:Zfp451
|
UTSW |
1 |
33,816,535 (GRCm39) |
missense |
probably damaging |
1.00 |
R9036:Zfp451
|
UTSW |
1 |
33,815,562 (GRCm39) |
missense |
probably damaging |
1.00 |
RF005:Zfp451
|
UTSW |
1 |
33,815,873 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GACGGAGATTTGCAGTCAGAC -3'
(R):5'- AACCTTCTTCTGTTGAGAACCC -3'
Sequencing Primer
(F):5'- GGAGATTTGCAGTCAGACTCCTC -3'
(R):5'- TCTGTTGAGAACCCATTGGAGAACC -3'
|
Posted On |
2018-03-15 |