Incidental Mutation 'R7835:Zfp451'
| ID |
605896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp451
|
| Ensembl Gene |
ENSMUSG00000042197 |
| Gene Name |
zinc finger protein 451 |
| Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
| MMRRC Submission |
045889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7835 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
33761545-33814595 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 33772979 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 885
(V885D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019861
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000115167]
[ENSMUST00000139143]
|
| AlphaFold |
Q8C0P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019861
AA Change: V885D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: V885D
| 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
|
| Meta Mutation Damage Score |
0.8829 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acan |
T |
A |
7: 79,099,875 (GRCm38) |
S1465T |
probably benign |
Het |
| Accsl |
T |
A |
2: 93,865,984 (GRCm38) |
K90* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,700,440 (GRCm38) |
D674E |
possibly damaging |
Het |
| Adap2 |
T |
A |
11: 80,160,231 (GRCm38) |
V129D |
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,987,727 (GRCm38) |
D742G |
|
Het |
| C1ra |
G |
A |
6: 124,517,725 (GRCm38) |
E316K |
probably benign |
Het |
| C330021F23Rik |
A |
G |
8: 3,580,452 (GRCm38) |
|
probably benign |
Het |
| Cachd1 |
G |
T |
4: 100,974,153 (GRCm38) |
|
probably null |
Het |
| Ccne1 |
G |
T |
7: 38,102,845 (GRCm38) |
Q133K |
probably benign |
Het |
| Cers3 |
C |
T |
7: 66,773,639 (GRCm38) |
H111Y |
possibly damaging |
Het |
| Chst5 |
A |
T |
8: 111,890,602 (GRCm38) |
L129M |
probably damaging |
Het |
| Depdc7 |
A |
G |
2: 104,728,185 (GRCm38) |
S164P |
probably benign |
Het |
| Dnah10 |
G |
A |
5: 124,777,234 (GRCm38) |
A1966T |
probably damaging |
Het |
| Fam208a |
G |
T |
14: 27,476,643 (GRCm38) |
G1311C |
probably damaging |
Het |
| Fcgbp |
T |
G |
7: 28,117,207 (GRCm38) |
S2365A |
possibly damaging |
Het |
| Ihh |
A |
G |
1: 74,946,366 (GRCm38) |
V320A |
probably damaging |
Het |
| Kdm5d |
T |
C |
Y: 900,558 (GRCm38) |
V201A |
possibly damaging |
Het |
| Kif13b |
T |
A |
14: 64,767,452 (GRCm38) |
H1117Q |
probably benign |
Het |
| Lcn8 |
C |
A |
2: 25,655,296 (GRCm38) |
|
probably null |
Het |
| Lrp4 |
T |
C |
2: 91,495,042 (GRCm38) |
V1404A |
possibly damaging |
Het |
| Lrrc61 |
A |
T |
6: 48,568,572 (GRCm38) |
T110S |
probably benign |
Het |
| Mrpl19 |
G |
A |
6: 81,962,126 (GRCm38) |
R232C |
probably damaging |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 (GRCm38) |
G2117A |
unknown |
Het |
| Mzt1 |
T |
C |
14: 99,046,003 (GRCm38) |
T21A |
probably benign |
Het |
| Naip6 |
G |
T |
13: 100,316,004 (GRCm38) |
A183E |
probably benign |
Het |
| Neb |
T |
C |
2: 52,150,577 (GRCm38) |
D6624G |
probably benign |
Het |
| Nup85 |
A |
G |
11: 115,570,071 (GRCm38) |
D183G |
probably benign |
Het |
| Olfm5 |
A |
T |
7: 104,154,445 (GRCm38) |
Y195* |
probably null |
Het |
| Olfr828 |
T |
A |
9: 18,815,809 (GRCm38) |
M162L |
probably benign |
Het |
| Piezo2 |
A |
T |
18: 63,082,945 (GRCm38) |
F1216I |
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Polr1a |
T |
C |
6: 71,915,142 (GRCm38) |
V135A |
probably benign |
Het |
| Ppcdc |
A |
G |
9: 57,420,276 (GRCm38) |
S83P |
probably benign |
Het |
| Prss21 |
A |
T |
17: 23,869,451 (GRCm38) |
Q130L |
possibly damaging |
Het |
| Rdx |
T |
A |
9: 52,065,788 (GRCm38) |
N112K |
probably damaging |
Het |
| Rgs22 |
A |
G |
15: 36,081,911 (GRCm38) |
|
probably null |
Het |
| Rps26 |
C |
T |
10: 128,626,126 (GRCm38) |
V40I |
probably benign |
Het |
| Runx2 |
A |
T |
17: 44,608,236 (GRCm38) |
M405K |
probably damaging |
Het |
| Serinc2 |
A |
C |
4: 130,275,487 (GRCm38) |
C4G |
unknown |
Het |
| Sh3rf2 |
C |
A |
18: 42,111,170 (GRCm38) |
R266S |
probably benign |
Het |
| Slc38a10 |
A |
G |
11: 120,116,996 (GRCm38) |
I386T |
possibly damaging |
Het |
| Stab2 |
G |
A |
10: 86,872,619 (GRCm38) |
P1694L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,932,029 (GRCm38) |
T682M |
probably damaging |
Het |
| Tmem102 |
A |
G |
11: 69,804,345 (GRCm38) |
V267A |
probably damaging |
Het |
| Trim65 |
A |
G |
11: 116,130,929 (GRCm38) |
L26P |
probably damaging |
Het |
| Vmn1r160 |
T |
A |
7: 22,871,954 (GRCm38) |
M244K |
possibly damaging |
Het |
| Vmn1r57 |
A |
T |
7: 5,221,139 (GRCm38) |
H221L |
probably benign |
Het |
| Wdr89 |
C |
A |
12: 75,632,899 (GRCm38) |
V194F |
probably damaging |
Het |
| Wee1 |
C |
A |
7: 110,130,878 (GRCm38) |
Y396* |
probably null |
Het |
| Zfp981 |
A |
T |
4: 146,537,876 (GRCm38) |
Q419H |
probably benign |
Het |
| Znfx1 |
A |
G |
2: 167,039,827 (GRCm38) |
Y1081H |
probably damaging |
Het |
|
| Other mutations in Zfp451 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00225:Zfp451
|
APN |
1 |
33,786,540 (GRCm38) |
intron |
probably benign |
|
|
IGL00423:Zfp451
|
APN |
1 |
33,777,579 (GRCm38) |
missense |
probably benign |
0.44 |
|
IGL00925:Zfp451
|
APN |
1 |
33,776,261 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00971:Zfp451
|
APN |
1 |
33,783,153 (GRCm38) |
missense |
probably benign |
0.01 |
|
IGL01521:Zfp451
|
APN |
1 |
33,777,331 (GRCm38) |
splice site |
probably null |
|
|
IGL01672:Zfp451
|
APN |
1 |
33,762,166 (GRCm38) |
missense |
probably benign |
0.33 |
|
IGL01826:Zfp451
|
APN |
1 |
33,782,162 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02298:Zfp451
|
APN |
1 |
33,772,921 (GRCm38) |
missense |
probably damaging |
0.98 |
|
IGL02343:Zfp451
|
APN |
1 |
33,776,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03150:Zfp451
|
APN |
1 |
33,777,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03257:Zfp451
|
APN |
1 |
33,777,048 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0006:Zfp451
|
UTSW |
1 |
33,802,780 (GRCm38) |
intron |
probably benign |
|
|
R0068:Zfp451
|
UTSW |
1 |
33,777,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0068:Zfp451
|
UTSW |
1 |
33,777,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0358:Zfp451
|
UTSW |
1 |
33,777,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0441:Zfp451
|
UTSW |
1 |
33,777,045 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0483:Zfp451
|
UTSW |
1 |
33,770,910 (GRCm38) |
splice site |
probably benign |
|
|
R0745:Zfp451
|
UTSW |
1 |
33,770,848 (GRCm38) |
nonsense |
probably null |
|
|
R1469:Zfp451
|
UTSW |
1 |
33,769,813 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1469:Zfp451
|
UTSW |
1 |
33,769,813 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R1486:Zfp451
|
UTSW |
1 |
33,777,727 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1774:Zfp451
|
UTSW |
1 |
33,813,768 (GRCm38) |
missense |
probably benign |
0.02 |
|
R1929:Zfp451
|
UTSW |
1 |
33,783,856 (GRCm38) |
missense |
probably benign |
0.12 |
|
R1929:Zfp451
|
UTSW |
1 |
33,782,193 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1933:Zfp451
|
UTSW |
1 |
33,777,822 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2108:Zfp451
|
UTSW |
1 |
33,779,167 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R2225:Zfp451
|
UTSW |
1 |
33,770,907 (GRCm38) |
splice site |
probably benign |
|
|
R2372:Zfp451
|
UTSW |
1 |
33,780,052 (GRCm38) |
splice site |
probably null |
|
|
R3923:Zfp451
|
UTSW |
1 |
33,779,045 (GRCm38) |
missense |
probably null |
1.00 |
|
R4295:Zfp451
|
UTSW |
1 |
33,777,755 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4409:Zfp451
|
UTSW |
1 |
33,777,413 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4617:Zfp451
|
UTSW |
1 |
33,802,671 (GRCm38) |
intron |
probably benign |
|
|
R4757:Zfp451
|
UTSW |
1 |
33,765,858 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R4777:Zfp451
|
UTSW |
1 |
33,782,105 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4906:Zfp451
|
UTSW |
1 |
33,805,384 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4964:Zfp451
|
UTSW |
1 |
33,777,861 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5128:Zfp451
|
UTSW |
1 |
33,802,933 (GRCm38) |
intron |
probably benign |
|
|
R5129:Zfp451
|
UTSW |
1 |
33,802,933 (GRCm38) |
intron |
probably benign |
|
|
R5383:Zfp451
|
UTSW |
1 |
33,813,806 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5446:Zfp451
|
UTSW |
1 |
33,777,528 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6154:Zfp451
|
UTSW |
1 |
33,803,546 (GRCm38) |
intron |
probably benign |
|
|
R6228:Zfp451
|
UTSW |
1 |
33,803,138 (GRCm38) |
intron |
probably benign |
|
|
R6272:Zfp451
|
UTSW |
1 |
33,803,244 (GRCm38) |
intron |
probably benign |
|
|
R6296:Zfp451
|
UTSW |
1 |
33,769,817 (GRCm38) |
nonsense |
probably null |
|
|
R6321:Zfp451
|
UTSW |
1 |
33,813,735 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6445:Zfp451
|
UTSW |
1 |
33,773,011 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6528:Zfp451
|
UTSW |
1 |
33,777,781 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6562:Zfp451
|
UTSW |
1 |
33,762,179 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R6739:Zfp451
|
UTSW |
1 |
33,803,594 (GRCm38) |
intron |
probably benign |
|
|
R6911:Zfp451
|
UTSW |
1 |
33,803,456 (GRCm38) |
intron |
probably benign |
|
|
R7042:Zfp451
|
UTSW |
1 |
33,777,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7044:Zfp451
|
UTSW |
1 |
33,802,167 (GRCm38) |
intron |
probably benign |
|
|
R7071:Zfp451
|
UTSW |
1 |
33,776,744 (GRCm38) |
missense |
possibly damaging |
0.96 |
|
R7082:Zfp451
|
UTSW |
1 |
33,772,891 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7123:Zfp451
|
UTSW |
1 |
33,776,869 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7149:Zfp451
|
UTSW |
1 |
33,777,324 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7179:Zfp451
|
UTSW |
1 |
33,802,570 (GRCm38) |
missense |
unknown |
|
|
R7185:Zfp451
|
UTSW |
1 |
33,769,893 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7228:Zfp451
|
UTSW |
1 |
33,803,394 (GRCm38) |
missense |
unknown |
|
|
R7402:Zfp451
|
UTSW |
1 |
33,813,762 (GRCm38) |
missense |
probably benign |
|
|
R7462:Zfp451
|
UTSW |
1 |
33,777,013 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7488:Zfp451
|
UTSW |
1 |
33,779,140 (GRCm38) |
missense |
probably benign |
0.22 |
|
R7507:Zfp451
|
UTSW |
1 |
33,769,759 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7774:Zfp451
|
UTSW |
1 |
33,805,393 (GRCm38) |
missense |
probably benign |
0.20 |
|
R7979:Zfp451
|
UTSW |
1 |
33,782,138 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8123:Zfp451
|
UTSW |
1 |
33,762,167 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R8137:Zfp451
|
UTSW |
1 |
33,782,075 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8938:Zfp451
|
UTSW |
1 |
33,802,982 (GRCm38) |
intron |
probably benign |
|
|
R8974:Zfp451
|
UTSW |
1 |
33,777,454 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9036:Zfp451
|
UTSW |
1 |
33,776,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
RF005:Zfp451
|
UTSW |
1 |
33,776,792 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AACGTAGCAAGTAACCTAGCAG -3'
(R):5'- TGAAGAGTTTTGCGTATAGGACC -3'
Sequencing Primer
(F):5'- TCAAACTCGGTCTACTCAGGAAGG -3'
(R):5'- TTGCGTATAGGACCTCTGATATC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation