Incidental Mutation 'R4295:Zfp451'
| ID |
323239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp451
|
| Ensembl Gene |
ENSMUSG00000042197 |
| Gene Name |
zinc finger protein 451 |
| Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
| MMRRC Submission |
041084-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4295 (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 T
at 33816836 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 154
(F154L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000115167]
[ENSMUST00000139143]
[ENSMUST00000151055]
[ENSMUST00000194656]
|
| AlphaFold |
Q8C0P7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019861
AA Change: F371L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: F371L
| 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 damaging
Transcript: ENSMUST00000115167
AA Change: F154L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197
AA Change: F154L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
T |
C |
13: 119,606,249 (GRCm39) |
S164P |
probably benign |
Het |
| 4933427D06Rik |
A |
G |
6: 89,084,883 (GRCm39) |
|
noncoding transcript |
Het |
| Aldh1l2 |
C |
T |
10: 83,331,784 (GRCm39) |
V674M |
possibly damaging |
Het |
| Angel1 |
A |
G |
12: 86,767,057 (GRCm39) |
Y440H |
probably damaging |
Het |
| Atr |
A |
G |
9: 95,756,479 (GRCm39) |
I870V |
probably benign |
Het |
| Cd200r4 |
T |
C |
16: 44,653,239 (GRCm39) |
V3A |
probably damaging |
Het |
| Celf2 |
T |
C |
2: 6,608,875 (GRCm39) |
N302S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,833,612 (GRCm39) |
F571Y |
probably benign |
Het |
| Dnah17 |
A |
T |
11: 118,009,598 (GRCm39) |
I363N |
probably damaging |
Het |
| Fam98a |
A |
T |
17: 75,848,342 (GRCm39) |
M124K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Foxj3 |
G |
T |
4: 119,483,494 (GRCm39) |
G555* |
probably null |
Het |
| Gm4841 |
T |
C |
18: 60,403,262 (GRCm39) |
N277S |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,840 (GRCm39) |
T66M |
probably damaging |
Het |
| Kif18a |
T |
C |
2: 109,123,398 (GRCm39) |
V224A |
probably benign |
Het |
| Lamb2 |
A |
G |
9: 108,363,410 (GRCm39) |
D863G |
probably benign |
Het |
| Lbr |
C |
T |
1: 181,648,267 (GRCm39) |
C398Y |
probably damaging |
Het |
| Lcn11 |
G |
A |
2: 25,668,111 (GRCm39) |
A90T |
possibly damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,968 (GRCm39) |
F10I |
probably damaging |
Het |
| Or2v2 |
T |
A |
11: 49,004,254 (GRCm39) |
I100L |
probably benign |
Het |
| Or5m3 |
T |
C |
2: 85,838,614 (GRCm39) |
Y165H |
probably benign |
Het |
| Or8d2b |
A |
G |
9: 38,788,609 (GRCm39) |
I46V |
probably damaging |
Het |
| Or9a4 |
T |
A |
6: 40,549,090 (GRCm39) |
F257I |
probably damaging |
Het |
| Pcdhb5 |
T |
A |
18: 37,455,734 (GRCm39) |
S705T |
possibly damaging |
Het |
| Pcgf2 |
A |
T |
11: 97,584,282 (GRCm39) |
Y24* |
probably null |
Het |
| Phf14 |
C |
T |
6: 11,987,096 (GRCm39) |
P559S |
probably damaging |
Het |
| Pigf |
A |
G |
17: 87,331,184 (GRCm39) |
I46T |
probably benign |
Het |
| Plpp4 |
A |
G |
7: 128,909,356 (GRCm39) |
E22G |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,590 (GRCm39) |
E65G |
possibly damaging |
Het |
| Sash1 |
A |
G |
10: 8,606,006 (GRCm39) |
S795P |
possibly damaging |
Het |
| Slc22a21 |
T |
C |
11: 53,860,329 (GRCm39) |
D34G |
probably damaging |
Het |
| Spata13 |
T |
A |
14: 60,947,004 (GRCm39) |
M684K |
probably damaging |
Het |
| Srsf6 |
T |
C |
2: 162,776,636 (GRCm39) |
|
probably benign |
Het |
| Stk32c |
T |
C |
7: 138,700,704 (GRCm39) |
|
probably null |
Het |
| Tjp1 |
T |
C |
7: 64,972,898 (GRCm39) |
D514G |
probably damaging |
Het |
| Ttll11 |
TCGCCGCCGCCGCCGCCGCCGC |
TCGCCGCCGCCGCCGCCGC |
2: 35,869,564 (GRCm39) |
|
probably benign |
Het |
| Unc13c |
A |
G |
9: 73,641,786 (GRCm39) |
S1236P |
probably damaging |
Het |
| Utp20 |
G |
T |
10: 88,590,381 (GRCm39) |
D2364E |
possibly damaging |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,465 (GRCm39) |
I252F |
probably damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,665,057 (GRCm39) |
I52M |
probably benign |
Het |
| Xndc1 |
T |
A |
7: 101,730,694 (GRCm39) |
L288M |
possibly 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 |
|
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'- CACTGGACTCTTTAACGGACAG -3'
(R):5'- TTGCTTCAAGGCCTCTATATCAAC -3'
Sequencing Primer
(F):5'- TGGACTCTTTAACGGACAGAATCC -3'
(R):5'- GGACCTGTTGCTATAGCT -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation