Incidental Mutation 'R6321:Zfp451'
ID |
510324 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp451
|
Ensembl Gene |
ENSMUSG00000042197 |
Gene Name |
zinc finger protein 451 |
Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
MMRRC Submission |
044418-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6321 (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 33852816 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 33
(F33L)
|
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: F33L
PolyPhen 2
Score 0.233 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000019861 Gene: ENSMUSG00000042197 AA Change: F33L
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 |
possibly damaging
Transcript: ENSMUST00000044455
AA Change: F33L
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000044372 Gene: ENSMUSG00000042197 AA Change: F33L
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 damaging
Transcript: ENSMUST00000139143
AA Change: F33L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000194656
AA Change: F33L
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000141813 Gene: ENSMUSG00000042197 AA Change: F33L
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 |
0.0710 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
Kidins220 |
C |
T |
12: 25,107,533 (GRCm39) |
S1571L |
probably benign |
Het |
Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
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 |
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 |
|
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'- ACTCCAATTGTTCAGGTAGCC -3'
(R):5'- AGTTCCCTGGGCTGGATTTC -3'
Sequencing Primer
(F):5'- ATTGTTCAGGTAGCCCCAAG -3'
(R):5'- GCTGGATTTCCGCTTGGTCC -3'
|
Posted On |
2018-04-02 |