Incidental Mutation 'R1774:Zfp451'
ID |
196878 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp451
|
Ensembl Gene |
ENSMUSG00000042197 |
Gene Name |
zinc finger protein 451 |
Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
MMRRC Submission |
039805-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1774 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
33800626-33853676 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 33852849 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 22
(S22A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000137992
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000044455]
[ENSMUST00000139143]
[ENSMUST00000194656]
|
AlphaFold |
Q8C0P7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000019861
AA Change: S22A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000019861 Gene: ENSMUSG00000042197 AA Change: S22A
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: ENSMUST00000044455
AA Change: S22A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000044372 Gene: ENSMUSG00000042197 AA Change: S22A
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
98 |
N/A |
INTRINSIC |
Pfam:LAP2alpha
|
344 |
499 |
2.5e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125723
|
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
AA Change: S22A
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000194656
AA Change: S22A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000141813 Gene: ENSMUSG00000042197 AA Change: S22A
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: 97.4%
- 3x: 96.8%
- 10x: 95.2%
- 20x: 92.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700018F24Rik |
T |
C |
5: 144,982,351 (GRCm39) |
V312A |
probably damaging |
Het |
2810408A11Rik |
A |
G |
11: 69,791,453 (GRCm39) |
V42A |
probably damaging |
Het |
Akap8l |
C |
T |
17: 32,551,457 (GRCm39) |
R511H |
probably damaging |
Het |
Angpt1 |
T |
A |
15: 42,387,012 (GRCm39) |
Q114L |
probably damaging |
Het |
Apc2 |
T |
C |
10: 80,144,964 (GRCm39) |
I625T |
probably damaging |
Het |
Atg2a |
T |
C |
19: 6,300,628 (GRCm39) |
V735A |
probably benign |
Het |
Birc6 |
T |
A |
17: 74,947,008 (GRCm39) |
I2909N |
probably damaging |
Het |
C7 |
C |
G |
15: 5,041,557 (GRCm39) |
D450H |
probably damaging |
Het |
Cachd1 |
C |
T |
4: 100,821,632 (GRCm39) |
T403I |
probably damaging |
Het |
Cachd1 |
T |
A |
4: 100,824,240 (GRCm39) |
F560L |
probably benign |
Het |
Cacna2d2 |
A |
T |
9: 107,403,350 (GRCm39) |
Y944F |
probably benign |
Het |
Cdkal1 |
C |
T |
13: 30,034,031 (GRCm39) |
D21N |
probably damaging |
Het |
Col18a1 |
T |
C |
10: 76,895,815 (GRCm39) |
R901G |
probably damaging |
Het |
Col27a1 |
C |
T |
4: 63,143,950 (GRCm39) |
P546L |
probably damaging |
Het |
Cps1 |
C |
T |
1: 67,210,041 (GRCm39) |
R624W |
possibly damaging |
Het |
Cyp11a1 |
A |
T |
9: 57,925,643 (GRCm39) |
I93F |
probably benign |
Het |
Cyp2c40 |
G |
C |
19: 39,775,250 (GRCm39) |
T334R |
probably damaging |
Het |
Cyp4f37 |
A |
G |
17: 32,848,864 (GRCm39) |
D244G |
possibly damaging |
Het |
D630003M21Rik |
A |
T |
2: 158,062,390 (GRCm39) |
D43E |
probably damaging |
Het |
Ep400 |
C |
A |
5: 110,833,357 (GRCm39) |
C1955F |
unknown |
Het |
Ethe1 |
G |
A |
7: 24,293,371 (GRCm39) |
V6I |
probably benign |
Het |
F5 |
C |
A |
1: 164,020,104 (GRCm39) |
Q860K |
probably benign |
Het |
Fasn |
T |
C |
11: 120,707,997 (GRCm39) |
Y685C |
probably damaging |
Het |
Gga2 |
T |
G |
7: 121,611,444 (GRCm39) |
D38A |
probably damaging |
Het |
Gm43302 |
T |
A |
5: 105,423,660 (GRCm39) |
I438F |
probably benign |
Het |
Grm1 |
T |
A |
10: 10,955,610 (GRCm39) |
T225S |
possibly damaging |
Het |
Hic2 |
G |
T |
16: 17,076,511 (GRCm39) |
V447L |
probably damaging |
Het |
Hsf2 |
G |
A |
10: 57,388,242 (GRCm39) |
C462Y |
probably damaging |
Het |
Ice1 |
T |
C |
13: 70,752,672 (GRCm39) |
D1138G |
probably damaging |
Het |
Il6 |
A |
G |
5: 30,224,433 (GRCm39) |
T158A |
probably benign |
Het |
Inpp5d |
T |
A |
1: 87,595,611 (GRCm39) |
V120E |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,008,625 (GRCm39) |
N456S |
probably benign |
Het |
Itgal |
T |
A |
7: 126,908,794 (GRCm39) |
|
probably null |
Het |
Lrrc66 |
G |
C |
5: 73,768,198 (GRCm39) |
Q248E |
probably benign |
Het |
Lrrc7 |
T |
A |
3: 157,865,929 (GRCm39) |
M1271L |
possibly damaging |
Het |
Lrrc74a |
T |
C |
12: 86,795,827 (GRCm39) |
S267P |
probably damaging |
Het |
Map2 |
T |
C |
1: 66,453,233 (GRCm39) |
S550P |
probably damaging |
Het |
Mapk8ip3 |
A |
T |
17: 25,143,119 (GRCm39) |
|
probably null |
Het |
Mdm4 |
A |
C |
1: 132,924,384 (GRCm39) |
S246A |
probably damaging |
Het |
Med23 |
A |
G |
10: 24,779,584 (GRCm39) |
E887G |
probably damaging |
Het |
Mta1 |
C |
T |
12: 113,091,659 (GRCm39) |
A254V |
probably damaging |
Het |
Myh2 |
A |
G |
11: 67,064,300 (GRCm39) |
Y85C |
possibly damaging |
Het |
Myo1g |
A |
G |
11: 6,465,988 (GRCm39) |
Y366H |
probably damaging |
Het |
Nalcn |
G |
A |
14: 123,515,678 (GRCm39) |
P1708S |
probably benign |
Het |
Nlrp9c |
A |
T |
7: 26,093,543 (GRCm39) |
S41T |
probably benign |
Het |
Nptx2 |
T |
A |
5: 144,490,248 (GRCm39) |
S226T |
possibly damaging |
Het |
Nup85 |
T |
A |
11: 115,473,771 (GRCm39) |
S562T |
probably benign |
Het |
Nxpe5 |
T |
C |
5: 138,237,797 (GRCm39) |
V107A |
probably benign |
Het |
Obi1 |
A |
G |
14: 104,717,098 (GRCm39) |
V425A |
possibly damaging |
Het |
Oga |
T |
C |
19: 45,765,423 (GRCm39) |
E128G |
probably benign |
Het |
Or10ac1 |
A |
T |
6: 42,515,453 (GRCm39) |
F168I |
probably damaging |
Het |
Or10al7 |
A |
G |
17: 38,366,328 (GRCm39) |
V43A |
probably benign |
Het |
Or13c3 |
T |
A |
4: 52,855,674 (GRCm39) |
I280F |
probably benign |
Het |
Or6p1 |
A |
G |
1: 174,258,905 (GRCm39) |
T304A |
probably benign |
Het |
Pcdhb12 |
C |
T |
18: 37,569,495 (GRCm39) |
P214S |
possibly damaging |
Het |
Pcdhb5 |
T |
A |
18: 37,455,725 (GRCm39) |
F702I |
probably damaging |
Het |
Pcnx1 |
T |
C |
12: 82,022,094 (GRCm39) |
F1475S |
probably damaging |
Het |
Pde5a |
C |
A |
3: 122,523,013 (GRCm39) |
T40N |
probably benign |
Het |
Pnpla2 |
T |
A |
7: 141,039,481 (GRCm39) |
V398E |
probably damaging |
Het |
Pramel19 |
G |
A |
4: 101,797,655 (GRCm39) |
V18M |
probably benign |
Het |
Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
Rab20 |
T |
C |
8: 11,504,223 (GRCm39) |
K159R |
probably benign |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rgs12 |
T |
A |
5: 35,123,747 (GRCm39) |
V510D |
probably benign |
Het |
Slamf6 |
T |
C |
1: 171,770,154 (GRCm39) |
|
probably benign |
Het |
Slc27a5 |
A |
T |
7: 12,731,534 (GRCm39) |
C23* |
probably null |
Het |
Slc35e2 |
T |
C |
4: 155,694,621 (GRCm39) |
V56A |
possibly damaging |
Het |
Slx4ip |
T |
C |
2: 136,909,643 (GRCm39) |
S143P |
probably damaging |
Het |
Stat5a |
C |
T |
11: 100,770,112 (GRCm39) |
S463F |
probably damaging |
Het |
Svep1 |
T |
C |
4: 58,146,562 (GRCm39) |
D360G |
possibly damaging |
Het |
Tas2r143 |
A |
T |
6: 42,377,305 (GRCm39) |
D45V |
probably damaging |
Het |
Tdrd5 |
G |
T |
1: 156,105,079 (GRCm39) |
R516S |
probably damaging |
Het |
Thy1 |
A |
G |
9: 43,958,636 (GRCm39) |
D126G |
probably benign |
Het |
Tspear |
C |
T |
10: 77,709,019 (GRCm39) |
T415I |
probably benign |
Het |
Ttll5 |
C |
A |
12: 85,980,176 (GRCm39) |
T920K |
probably benign |
Het |
Tut4 |
T |
C |
4: 108,365,152 (GRCm39) |
F542L |
probably damaging |
Het |
Umod |
T |
C |
7: 119,076,574 (GRCm39) |
E64G |
possibly damaging |
Het |
Usf3 |
A |
G |
16: 44,036,033 (GRCm39) |
N171S |
probably damaging |
Het |
Vmn1r23 |
T |
A |
6: 57,903,675 (GRCm39) |
R34S |
probably damaging |
Het |
Wasf1 |
C |
G |
10: 40,810,475 (GRCm39) |
P239R |
possibly damaging |
Het |
Wdr95 |
C |
T |
5: 149,487,857 (GRCm39) |
R164* |
probably null |
Het |
Zan |
C |
A |
5: 137,418,251 (GRCm39) |
C2949F |
unknown |
Het |
Zbed4 |
T |
C |
15: 88,665,080 (GRCm39) |
S383P |
probably benign |
Het |
Zfand5 |
T |
A |
19: 21,253,895 (GRCm39) |
C33S |
probably damaging |
Het |
Zfp12 |
A |
G |
5: 143,230,984 (GRCm39) |
Y437C |
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 |
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 |
RF005:Zfp451
|
UTSW |
1 |
33,815,873 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GCGACAGCTATTCGCCATTCATGAC -3'
(R):5'- GCCTTGTACTTGAAGCCTGCATCC -3'
Sequencing Primer
(F):5'- GCCATTCATGACTATCTGTTGAG -3'
(R):5'- GGTTTAGAGCCTGCATCCCTG -3'
|
Posted On |
2014-05-23 |