Incidental Mutation 'RF005:Zfp451'
| ID |
602728 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp451
|
| Ensembl Gene |
ENSMUSG00000042197 |
| Gene Name |
zinc finger protein 451 |
| Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
RF005 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
33800626-33853676 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 33815873 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 692
(Y692*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000115167]
[ENSMUST00000139143]
[ENSMUST00000151055]
[ENSMUST00000194656]
|
| AlphaFold |
Q8C0P7 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000019861
AA Change: Y692*
|
| SMART Domains |
Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: Y692*
| 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 |
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 |
probably benign
Transcript: ENSMUST00000139143
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151055
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.6%
|
| Validation Efficiency |
94% (65/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
AGAAAGGAAAAGGTGGCCAG |
AGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,847 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
CTGCTG |
CTGCTGTGGATGCTG |
1: 82,891,306 (GRCm39) |
|
probably benign |
Het |
| Abca1 |
G |
T |
4: 53,049,125 (GRCm39) |
T1651N |
probably damaging |
Het |
| Adamtsl3 |
A |
G |
7: 82,261,603 (GRCm39) |
T40A |
|
Het |
| Adgra3 |
A |
T |
5: 50,170,729 (GRCm39) |
|
probably null |
Het |
| Apcs |
A |
T |
1: 172,721,809 (GRCm39) |
M179K |
probably damaging |
Het |
| Baiap2 |
G |
A |
11: 119,887,355 (GRCm39) |
E217K |
possibly damaging |
Het |
| Bltp3a |
A |
T |
17: 28,104,505 (GRCm39) |
D517V |
probably damaging |
Het |
| Ccdc69 |
A |
G |
11: 54,951,349 (GRCm39) |
L24P |
probably damaging |
Het |
| Cdh16 |
T |
G |
8: 105,343,684 (GRCm39) |
N604T |
probably damaging |
Het |
| Cfb |
C |
T |
17: 35,077,022 (GRCm39) |
V538I |
possibly damaging |
Het |
| Col6a3 |
A |
G |
1: 90,738,984 (GRCm39) |
S1022P |
probably benign |
Het |
| Cpeb1 |
A |
G |
7: 81,011,554 (GRCm39) |
L129S |
possibly damaging |
Het |
| Crybg1 |
A |
G |
10: 43,880,741 (GRCm39) |
V149A |
probably benign |
Het |
| Cyp4f16 |
C |
A |
17: 32,764,169 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
G |
A |
14: 24,208,561 (GRCm39) |
Q882* |
probably null |
Het |
| Fsip2 |
T |
A |
2: 82,822,876 (GRCm39) |
I6203K |
probably benign |
Het |
| Gabre |
CCGGCT |
CCGGCTACGGCT |
X: 71,313,651 (GRCm39) |
|
probably null |
Het |
| Gprc5d |
A |
T |
6: 135,093,517 (GRCm39) |
L130Q |
probably damaging |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Hmcn1 |
T |
A |
1: 150,510,897 (GRCm39) |
K3609* |
probably null |
Het |
| Hsdl2 |
GCTGCAG |
GCTGCAGCAGCAGCCACATCTGCAG |
4: 59,610,652 (GRCm39) |
|
probably benign |
Het |
| Kl |
A |
C |
5: 150,876,885 (GRCm39) |
Y235S |
probably benign |
Het |
| Map6d1 |
G |
A |
16: 20,059,750 (GRCm39) |
T105I |
probably benign |
Het |
| Mast4 |
GGTGGTGGTGG |
GGTGGTGGTGGTGGTGG |
13: 102,872,815 (GRCm39) |
|
probably benign |
Het |
| Mbd1 |
TGTCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
TATCTGCATCTGCGTCTTCGTCTGCATCTGCATCTGC |
18: 74,406,644 (GRCm39) |
|
probably benign |
Het |
| Mms22l |
A |
G |
4: 24,517,207 (GRCm39) |
I363V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,742,824 (GRCm39) |
I391V |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,233 (GRCm39) |
D286E |
probably benign |
Het |
| Nrxn1 |
G |
A |
17: 90,670,304 (GRCm39) |
R1144C |
probably damaging |
Het |
| Or51q1 |
A |
G |
7: 103,628,768 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52j3 |
T |
C |
7: 102,835,898 (GRCm39) |
I30T |
possibly damaging |
Het |
| Or5al5 |
T |
C |
2: 85,961,414 (GRCm39) |
M198V |
probably benign |
Het |
| Pan2 |
G |
A |
10: 128,151,404 (GRCm39) |
E842K |
probably benign |
Het |
| Pate11 |
T |
C |
9: 36,386,970 (GRCm39) |
S13P |
possibly damaging |
Het |
| Polr1has |
CACCACCACCACCACCACCAC |
CACCACCACCACCACCACCACAACCACCACCACCACCACCAC |
17: 37,275,940 (GRCm39) |
|
probably benign |
Het |
| Prex2 |
A |
C |
1: 11,255,390 (GRCm39) |
D1145A |
possibly damaging |
Het |
| Prop1 |
A |
C |
11: 50,841,957 (GRCm39) |
Y150D |
possibly damaging |
Het |
| Prp2 |
AGGCCCACAGCAGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
AGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC |
6: 132,577,464 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,735 (GRCm39) |
I353M |
probably damaging |
Het |
| Rapgef1 |
C |
A |
2: 29,597,207 (GRCm39) |
|
probably null |
Het |
| Rgl1 |
G |
A |
1: 152,397,114 (GRCm39) |
S684L |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 109,916,215 (GRCm39) |
D1552V |
probably damaging |
Het |
| Scpppq1 |
A |
C |
5: 104,222,725 (GRCm39) |
|
probably null |
Het |
| Serpinh1 |
C |
T |
7: 98,995,410 (GRCm39) |
V391M |
probably damaging |
Het |
| Slc35e4 |
A |
T |
11: 3,857,960 (GRCm39) |
L215Q |
possibly damaging |
Het |
| Tbl3 |
TCTT |
TCTTCTT |
17: 24,921,515 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,066,705 (GRCm39) |
M2045K |
probably benign |
Het |
| Tmprss15 |
T |
C |
16: 78,750,689 (GRCm39) |
*1070W |
probably null |
Het |
| Trav15-2-dv6-2 |
GAA |
GAACAA |
14: 53,887,211 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGGAG |
GGGAGGAG |
14: 53,887,207 (GRCm39) |
|
probably benign |
Het |
| Trav15-2-dv6-2 |
GGAG |
GGAGGAG |
14: 53,887,208 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
GCCCCGGCCCCCG |
GCCCCG |
3: 103,187,528 (GRCm39) |
|
probably null |
Het |
| Triobp |
GACAA |
GACAACCCCAGGACTCCCTGTGCCCAACGGAACAA |
15: 78,851,261 (GRCm39) |
|
probably benign |
Het |
| Tub |
C |
A |
7: 108,621,846 (GRCm39) |
Q95K |
probably benign |
Het |
| Usp9y |
T |
A |
Y: 1,435,046 (GRCm39) |
Q261L |
probably benign |
Het |
| Utp20 |
A |
T |
10: 88,661,319 (GRCm39) |
D29E |
probably damaging |
Het |
| Vill |
G |
A |
9: 118,889,507 (GRCm39) |
V148M |
probably damaging |
Het |
| Vmn2r120 |
C |
T |
17: 57,828,991 (GRCm39) |
E535K |
possibly damaging |
Het |
| Zfp599 |
A |
C |
9: 22,165,180 (GRCm39) |
V65G |
probably benign |
Het |
| Zfp808 |
T |
C |
13: 62,319,113 (GRCm39) |
V114A |
probably benign |
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 |
|
|
R6272:Zfp451
|
UTSW |
1 |
33,842,325 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTACCTTTCTCCAGCAGGAC -3'
(R):5'- AATCCCAGGAGTGTGTGAAG -3'
Sequencing Primer
(F):5'- CTGGAAGGCATCGGTCATAGTC -3'
(R):5'- GCACTGCATGTCCTTGACAAG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation