Incidental Mutation 'R8974:Zfp451'
| ID |
683292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp451
|
| Ensembl Gene |
ENSMUSG00000042197 |
| Gene Name |
zinc finger protein 451 |
| Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
| MMRRC Submission |
068808-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8974 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
33800626-33853676 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33816535 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 472
(C472R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000115167]
[ENSMUST00000139143]
[ENSMUST00000151055]
[ENSMUST00000194656]
|
| AlphaFold |
Q8C0P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019861
AA Change: C472R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: C472R
| 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 |
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 |
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 |
|
| Meta Mutation Damage Score |
0.9447 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acat3 |
A |
G |
17: 13,143,716 (GRCm39) |
V342A |
probably damaging |
Het |
| Acot4 |
T |
C |
12: 84,090,515 (GRCm39) |
F404S |
probably benign |
Het |
| Alpk1 |
T |
C |
3: 127,473,580 (GRCm39) |
T808A |
probably benign |
Het |
| Apba3 |
T |
C |
10: 81,109,032 (GRCm39) |
V154A |
|
Het |
| Arhgap27 |
A |
T |
11: 103,224,756 (GRCm39) |
F476I |
possibly damaging |
Het |
| Asah2 |
A |
T |
19: 32,030,305 (GRCm39) |
D122E |
probably benign |
Het |
| Asb10 |
T |
C |
5: 24,745,209 (GRCm39) |
I47V |
probably benign |
Het |
| Catsperd |
A |
G |
17: 56,959,525 (GRCm39) |
T322A |
possibly damaging |
Het |
| Ccdc142 |
T |
C |
6: 83,078,963 (GRCm39) |
V100A |
probably benign |
Het |
| Cdc5l |
A |
T |
17: 45,715,621 (GRCm39) |
C664S |
possibly damaging |
Het |
| Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
| Cep89 |
A |
G |
7: 35,097,493 (GRCm39) |
S40G |
probably damaging |
Het |
| Csmd2 |
A |
G |
4: 128,446,380 (GRCm39) |
K3315R |
|
Het |
| Cyp2d34 |
T |
C |
15: 82,500,537 (GRCm39) |
E434G |
probably damaging |
Het |
| Degs1 |
A |
G |
1: 182,107,278 (GRCm39) |
Y30H |
probably benign |
Het |
| Eps8l1 |
A |
G |
7: 4,474,817 (GRCm39) |
D266G |
probably damaging |
Het |
| Fam168a |
A |
T |
7: 100,484,611 (GRCm39) |
T234S |
probably benign |
Het |
| Fzd3 |
G |
T |
14: 65,472,440 (GRCm39) |
Q443K |
possibly damaging |
Het |
| Galnt7 |
A |
G |
8: 58,105,934 (GRCm39) |
S27P |
|
Het |
| Gpr162 |
T |
C |
6: 124,837,876 (GRCm39) |
D258G |
probably damaging |
Het |
| Hdac2 |
A |
G |
10: 36,862,340 (GRCm39) |
Y68C |
probably damaging |
Het |
| Lmbr1l |
A |
G |
15: 98,810,408 (GRCm39) |
C68R |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,518,899 (GRCm39) |
T1902A |
possibly damaging |
Het |
| Lrrc4c |
T |
C |
2: 97,459,992 (GRCm39) |
M206T |
probably damaging |
Het |
| Lrrc75b |
T |
C |
10: 75,389,848 (GRCm39) |
T168A |
probably benign |
Het |
| Magi1 |
A |
G |
6: 93,674,223 (GRCm39) |
F1003L |
probably damaging |
Het |
| Map1s |
T |
C |
8: 71,366,994 (GRCm39) |
L633P |
probably damaging |
Het |
| Mapk11 |
G |
A |
15: 89,028,014 (GRCm39) |
T341I |
probably benign |
Het |
| Mycbp2 |
A |
T |
14: 103,361,857 (GRCm39) |
V4441D |
probably damaging |
Het |
| Nin |
T |
C |
12: 70,124,932 (GRCm39) |
E130G |
|
Het |
| Nod2 |
T |
A |
8: 89,390,433 (GRCm39) |
Y247N |
probably damaging |
Het |
| Nudcd3 |
A |
T |
11: 6,143,163 (GRCm39) |
V169E |
probably benign |
Het |
| Or2w2 |
A |
T |
13: 21,758,203 (GRCm39) |
I141N |
probably damaging |
Het |
| Or51v15-ps1 |
T |
C |
7: 103,278,489 (GRCm39) |
Y226C |
unknown |
Het |
| Or6c200-ps1 |
A |
C |
10: 128,869,905 (GRCm39) |
C269G |
probably damaging |
Het |
| Pcdh9 |
A |
C |
14: 94,125,113 (GRCm39) |
N352K |
probably benign |
Het |
| Pfpl |
G |
A |
19: 12,405,839 (GRCm39) |
G30D |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,675 (GRCm39) |
D159G |
possibly damaging |
Het |
| Plxna4 |
G |
T |
6: 32,216,447 (GRCm39) |
R543S |
possibly damaging |
Het |
| Ppp1r12c |
C |
T |
7: 4,486,698 (GRCm39) |
E543K |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,617,726 (GRCm39) |
|
probably null |
Het |
| Proca1 |
T |
C |
11: 78,096,144 (GRCm39) |
S172P |
probably damaging |
Het |
| Ralgapa1 |
C |
A |
12: 55,723,791 (GRCm39) |
M1578I |
probably benign |
Het |
| Rnf103 |
C |
A |
6: 71,486,092 (GRCm39) |
A241E |
probably damaging |
Het |
| Rorb |
T |
C |
19: 18,955,070 (GRCm39) |
D182G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,742,624 (GRCm39) |
K485E |
possibly damaging |
Het |
| Sec24d |
G |
A |
3: 123,099,498 (GRCm39) |
D324N |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,642 (GRCm39) |
I168N |
probably damaging |
Het |
| Sidt1 |
A |
T |
16: 44,101,980 (GRCm39) |
*62R |
probably null |
Het |
| Slc22a27 |
A |
C |
19: 7,903,751 (GRCm39) |
S129A |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,939,556 (GRCm39) |
D718G |
probably benign |
Het |
| Stab1 |
A |
G |
14: 30,882,779 (GRCm39) |
V408A |
probably benign |
Het |
| Svil |
G |
T |
18: 5,099,650 (GRCm39) |
G1729W |
probably damaging |
Het |
| Tbx20 |
A |
G |
9: 24,681,082 (GRCm39) |
S137P |
probably damaging |
Het |
| Tcstv2c |
T |
A |
13: 120,616,486 (GRCm39) |
D108E |
probably benign |
Het |
| Trem2 |
G |
A |
17: 48,655,599 (GRCm39) |
R52Q |
probably damaging |
Het |
| Trim55 |
T |
C |
3: 19,699,603 (GRCm39) |
S112P |
probably damaging |
Het |
| Vmn1r172 |
A |
T |
7: 23,359,840 (GRCm39) |
M242L |
probably benign |
Het |
| Vmn2r91 |
G |
A |
17: 18,325,636 (GRCm39) |
A85T |
probably benign |
Het |
| Zc3h3 |
T |
C |
15: 75,657,452 (GRCm39) |
T580A |
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 |
|
|
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'- CTCAGTAATGTGTGCCATGATGG -3'
(R):5'- AGTCGGCCTCCTTGTGATTTAC -3'
Sequencing Primer
(F):5'- TTTTGCACGTCCGACACCAAAATAG -3'
(R):5'- CGTTCCGACAAAGAAGGT -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation