Incidental Mutation 'R7979:Zfp451'
ID |
651054 |
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 # |
R7979 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
33800626-33853676 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 33821219 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 211
(S211L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000019861
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000115167]
[ENSMUST00000139143]
[ENSMUST00000151055]
[ENSMUST00000194656]
|
AlphaFold |
Q8C0P7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019861
AA Change: S211L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000019861 Gene: ENSMUSG00000042197 AA Change: S211L
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
AA Change: S169L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141813 Gene: ENSMUSG00000042197 AA Change: S169L
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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam22 |
A |
T |
5: 8,186,804 (GRCm39) |
|
probably null |
Het |
Ahnak |
A |
T |
19: 8,988,796 (GRCm39) |
D3360V |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,100,381 (GRCm39) |
L2681P |
probably benign |
Het |
Ankrd52 |
C |
A |
10: 128,217,857 (GRCm39) |
A279E |
probably damaging |
Het |
Arhgef4 |
T |
C |
1: 34,760,978 (GRCm39) |
L78P |
unknown |
Het |
Cfap300 |
T |
A |
9: 8,027,111 (GRCm39) |
E142D |
possibly damaging |
Het |
Chpf |
A |
T |
1: 75,453,904 (GRCm39) |
C291* |
probably null |
Het |
Cr1l |
T |
C |
1: 194,800,030 (GRCm39) |
T215A |
probably damaging |
Het |
Ctc1 |
A |
T |
11: 68,918,209 (GRCm39) |
K444* |
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,595,029 (GRCm39) |
S711P |
probably damaging |
Het |
Elavl4 |
A |
T |
4: 110,068,845 (GRCm39) |
V176D |
probably benign |
Het |
Faim2 |
A |
G |
15: 99,408,515 (GRCm39) |
V251A |
possibly damaging |
Het |
Fancg |
A |
G |
4: 43,004,963 (GRCm39) |
I410T |
probably damaging |
Het |
Frmd3 |
G |
A |
4: 74,071,852 (GRCm39) |
V245I |
probably damaging |
Het |
Gls |
T |
C |
1: 52,230,271 (GRCm39) |
H480R |
probably damaging |
Het |
Gm30191 |
A |
G |
4: 133,977,223 (GRCm39) |
D145G |
possibly damaging |
Het |
Grik2 |
T |
C |
10: 49,280,438 (GRCm39) |
I438V |
probably benign |
Het |
Klhl3 |
G |
T |
13: 58,211,611 (GRCm39) |
Q197K |
probably benign |
Het |
Krt42 |
G |
C |
11: 100,155,865 (GRCm39) |
R294G |
possibly damaging |
Het |
Mmp23 |
G |
A |
4: 155,736,462 (GRCm39) |
T193I |
possibly damaging |
Het |
Mmrn1 |
T |
C |
6: 60,952,961 (GRCm39) |
V414A |
probably damaging |
Het |
Mmrn2 |
C |
T |
14: 34,118,138 (GRCm39) |
Q61* |
probably null |
Het |
Mprip |
G |
A |
11: 59,657,682 (GRCm39) |
R852H |
probably damaging |
Het |
Nars2 |
A |
C |
7: 96,711,868 (GRCm39) |
N461T |
probably damaging |
Het |
Nomo1 |
A |
G |
7: 45,690,986 (GRCm39) |
N124S |
probably null |
Het |
Or1e17 |
G |
T |
11: 73,831,401 (GRCm39) |
V110F |
probably benign |
Het |
Or1j17 |
A |
G |
2: 36,578,106 (GRCm39) |
I31V |
probably benign |
Het |
Peak1 |
T |
A |
9: 56,114,676 (GRCm39) |
N1422Y |
possibly damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pfkm |
G |
A |
15: 98,026,117 (GRCm39) |
E571K |
probably damaging |
Het |
Ptpn2 |
A |
T |
18: 67,814,641 (GRCm39) |
C123S |
possibly damaging |
Het |
Raph1 |
G |
A |
1: 60,565,148 (GRCm39) |
T113I |
probably benign |
Het |
Rsf1 |
A |
G |
7: 97,334,920 (GRCm39) |
E1351G |
|
Het |
Serinc4 |
C |
T |
2: 121,285,793 (GRCm39) |
V163I |
probably benign |
Het |
Slc7a2 |
G |
T |
8: 41,357,541 (GRCm39) |
G270C |
probably damaging |
Het |
Smc2 |
G |
A |
4: 52,450,857 (GRCm39) |
R225Q |
probably damaging |
Het |
Tas2r140 |
T |
C |
6: 40,468,601 (GRCm39) |
S144P |
probably damaging |
Het |
Tcl1b4 |
A |
T |
12: 105,168,865 (GRCm39) |
H43L |
probably benign |
Het |
Tmem156 |
T |
C |
5: 65,237,352 (GRCm39) |
T103A |
possibly damaging |
Het |
Tns3 |
A |
T |
11: 8,442,701 (GRCm39) |
M554K |
probably benign |
Het |
Tpp2 |
A |
T |
1: 43,979,297 (GRCm39) |
I65F |
probably benign |
Het |
Trank1 |
T |
A |
9: 111,206,967 (GRCm39) |
M1700K |
probably benign |
Het |
Ttc39c |
T |
A |
18: 12,866,022 (GRCm39) |
H473Q |
probably benign |
Het |
Vmn2r68 |
A |
C |
7: 84,883,625 (GRCm39) |
|
probably null |
Het |
Wnk1 |
T |
C |
6: 120,014,409 (GRCm39) |
D62G |
probably damaging |
Het |
Wnk2 |
A |
T |
13: 49,248,884 (GRCm39) |
M389K |
probably damaging |
Het |
Zfp292 |
G |
A |
4: 34,809,198 (GRCm39) |
T1287M |
probably benign |
Het |
Zfp710 |
T |
C |
7: 79,738,327 (GRCm39) |
S626P |
unknown |
Het |
Zfp787 |
C |
T |
7: 6,146,094 (GRCm39) |
E16K |
probably damaging |
Het |
Zfp788 |
G |
T |
7: 41,284,324 (GRCm39) |
|
probably null |
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 |
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'- TGCACGATTAAGAGCAACACG -3'
(R):5'- AGAGGGTCTTGTAACCTCCTTTTC -3'
Sequencing Primer
(F):5'- GCACGATTAAGAGCAACACGAAAAAC -3'
(R):5'- TTCCCTCACAGATGTCTCAAGGAG -3'
|
Posted On |
2020-09-15 |