Incidental Mutation 'R7179:Zfp451'
| ID |
558808 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp451
|
| Ensembl Gene |
ENSMUSG00000042197 |
| Gene Name |
zinc finger protein 451 |
| Synonyms |
4930515K21Rik, Kiaa0576-hp, 4933435G09Rik |
| MMRRC Submission |
045269-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7179 (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 T
at 33841651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 410
(H410Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000044372
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019861]
[ENSMUST00000044455]
[ENSMUST00000115167]
[ENSMUST00000139143]
[ENSMUST00000194656]
|
| AlphaFold |
Q8C0P7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019861
|
| SMART Domains |
Protein: ENSMUSP00000019861
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 |
unknown
Transcript: ENSMUST00000044455
AA Change: H410Q
|
| SMART Domains |
Protein: ENSMUSP00000044372
Gene: ENSMUSG00000042197
AA Change: H410Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
98 |
N/A |
INTRINSIC |
|
Pfam:LAP2alpha
|
344 |
499 |
2.5e-11 |
PFAM |
|
| 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: 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.1%
|
| Validation Efficiency |
100% (76/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot13 |
A |
T |
13: 25,002,154 (GRCm39) |
I96K |
probably benign |
Het |
| Adam6a |
A |
G |
12: 113,509,291 (GRCm39) |
T555A |
probably benign |
Het |
| Alms1 |
C |
T |
6: 85,598,351 (GRCm39) |
P1059L |
probably benign |
Het |
| Apol7c |
T |
C |
15: 77,409,843 (GRCm39) |
T368A |
probably benign |
Het |
| Arfgef3 |
A |
T |
10: 18,475,015 (GRCm39) |
L1557Q |
probably damaging |
Het |
| Baz2a |
C |
T |
10: 127,960,326 (GRCm39) |
R1514W |
probably damaging |
Het |
| Bmp3 |
T |
A |
5: 99,020,622 (GRCm39) |
D348E |
probably damaging |
Het |
| Bves |
A |
G |
10: 45,230,913 (GRCm39) |
S295G |
probably damaging |
Het |
| Carmil1 |
A |
G |
13: 24,204,052 (GRCm39) |
C1328R |
probably benign |
Het |
| Ccnk |
T |
A |
12: 108,153,517 (GRCm39) |
Y93N |
probably damaging |
Het |
| Ccr1 |
A |
T |
9: 123,764,089 (GRCm39) |
V147D |
probably damaging |
Het |
| Cd24a |
G |
A |
10: 43,458,636 (GRCm39) |
G36S |
probably benign |
Het |
| Cep104 |
A |
G |
4: 154,077,324 (GRCm39) |
Y569C |
probably damaging |
Het |
| Chd2 |
A |
T |
7: 73,125,168 (GRCm39) |
I884N |
probably damaging |
Het |
| Cnst |
A |
T |
1: 179,406,947 (GRCm39) |
|
probably benign |
Het |
| Col22a1 |
A |
G |
15: 71,805,262 (GRCm39) |
L146P |
unknown |
Het |
| Col25a1 |
G |
T |
3: 130,323,768 (GRCm39) |
R321L |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,683,510 (GRCm39) |
Y504H |
possibly damaging |
Het |
| D3Ertd751e |
C |
A |
3: 41,703,143 (GRCm39) |
Q73K |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,168,332 (GRCm39) |
|
probably null |
Het |
| Eya1 |
A |
T |
1: 14,373,076 (GRCm39) |
S14R |
probably damaging |
Het |
| Fam131c |
A |
T |
4: 141,110,328 (GRCm39) |
|
probably null |
Het |
| Flvcr2 |
T |
C |
12: 85,793,965 (GRCm39) |
F114L |
possibly damaging |
Het |
| Fyn |
A |
G |
10: 39,408,120 (GRCm39) |
D321G |
possibly damaging |
Het |
| Galnt5 |
A |
C |
2: 57,888,621 (GRCm39) |
M74L |
probably benign |
Het |
| Garin4 |
G |
A |
1: 190,896,218 (GRCm39) |
R142C |
probably damaging |
Het |
| Gas2l2 |
G |
A |
11: 83,313,288 (GRCm39) |
P675S |
probably benign |
Het |
| Gm9508 |
G |
T |
10: 77,532,470 (GRCm39) |
Q200K |
unknown |
Het |
| Greb1l |
G |
A |
18: 10,544,576 (GRCm39) |
S1390N |
probably benign |
Het |
| Hdac5 |
G |
T |
11: 102,095,385 (GRCm39) |
T430K |
possibly damaging |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Khnyn |
C |
T |
14: 56,131,811 (GRCm39) |
P578S |
probably damaging |
Het |
| Lepr |
A |
T |
4: 101,602,856 (GRCm39) |
T215S |
probably benign |
Het |
| Lrfn5 |
G |
A |
12: 61,890,768 (GRCm39) |
V686I |
probably benign |
Het |
| Mapkap1 |
T |
A |
2: 34,408,712 (GRCm39) |
H233Q |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,885,081 (GRCm39) |
I201T |
probably damaging |
Het |
| Metrnl |
G |
A |
11: 121,606,734 (GRCm39) |
R263Q |
probably damaging |
Het |
| Mettl22 |
A |
G |
16: 8,295,924 (GRCm39) |
E71G |
probably benign |
Het |
| Muc16 |
T |
C |
9: 18,553,304 (GRCm39) |
T4330A |
probably benign |
Het |
| Mug1 |
A |
G |
6: 121,834,379 (GRCm39) |
T387A |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,135,550 (GRCm39) |
D379G |
probably benign |
Het |
| Nbas |
A |
G |
12: 13,455,398 (GRCm39) |
D1204G |
possibly damaging |
Het |
| Ncor2 |
T |
C |
5: 125,132,847 (GRCm39) |
K478E |
unknown |
Het |
| Or14a256 |
A |
T |
7: 86,265,574 (GRCm39) |
L93Q |
possibly damaging |
Het |
| Or51d1 |
A |
G |
7: 102,347,477 (GRCm39) |
T11A |
probably benign |
Het |
| Or5k1 |
T |
A |
16: 58,617,250 (GRCm39) |
I320F |
probably benign |
Het |
| Osbpl7 |
G |
A |
11: 96,941,662 (GRCm39) |
V62I |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,163,018 (GRCm39) |
N246S |
probably damaging |
Het |
| Prim1 |
A |
G |
10: 127,851,845 (GRCm39) |
Y39C |
probably damaging |
Het |
| Prl3b1 |
G |
T |
13: 27,427,827 (GRCm39) |
V46L |
probably benign |
Het |
| Prss54 |
A |
T |
8: 96,292,199 (GRCm39) |
S127T |
probably benign |
Het |
| Rasal3 |
G |
A |
17: 32,611,391 (GRCm39) |
T912M |
probably damaging |
Het |
| Rrp12 |
T |
A |
19: 41,872,217 (GRCm39) |
T420S |
probably benign |
Het |
| Rspo1 |
A |
G |
4: 124,898,831 (GRCm39) |
N51D |
probably damaging |
Het |
| Rufy4 |
A |
G |
1: 74,172,035 (GRCm39) |
R253G |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,657,167 (GRCm39) |
R571C |
unknown |
Het |
| Scn2a |
A |
T |
2: 65,532,323 (GRCm39) |
H645L |
probably damaging |
Het |
| Sec24b |
A |
G |
3: 129,782,595 (GRCm39) |
S1132P |
probably damaging |
Het |
| Slc1a2 |
A |
G |
2: 102,586,290 (GRCm39) |
K298R |
probably damaging |
Het |
| Slc25a54 |
T |
A |
3: 109,014,573 (GRCm39) |
N230K |
probably benign |
Het |
| Slc27a4 |
T |
G |
2: 29,705,664 (GRCm39) |
Y617* |
probably null |
Het |
| Slc2a10 |
T |
C |
2: 165,357,269 (GRCm39) |
S310P |
probably damaging |
Het |
| Snx33 |
C |
T |
9: 56,833,151 (GRCm39) |
R306H |
probably damaging |
Het |
| Spag9 |
A |
T |
11: 93,980,258 (GRCm39) |
|
probably null |
Het |
| Spg11 |
A |
T |
2: 121,932,270 (GRCm39) |
|
probably null |
Het |
| Sycp2l |
A |
G |
13: 41,283,258 (GRCm39) |
T165A |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,615,571 (GRCm39) |
C189R |
probably damaging |
Het |
| Taar9 |
A |
T |
10: 23,984,882 (GRCm39) |
L184Q |
probably damaging |
Het |
| Tkt |
C |
T |
14: 30,281,815 (GRCm39) |
P111L |
probably damaging |
Het |
| Trpc1 |
A |
T |
9: 95,603,197 (GRCm39) |
L445Q |
possibly damaging |
Het |
| Usp53 |
A |
G |
3: 122,743,359 (GRCm39) |
S526P |
probably benign |
Het |
| Vps54 |
T |
G |
11: 21,248,791 (GRCm39) |
W447G |
probably damaging |
Het |
| Xirp2 |
A |
T |
2: 67,340,177 (GRCm39) |
H806L |
probably benign |
Het |
| Zfp688 |
A |
G |
7: 127,018,484 (GRCm39) |
C214R |
probably damaging |
Het |
| Zic4 |
A |
G |
9: 91,261,174 (GRCm39) |
D143G |
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 |
|
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 |
|
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'- CAAGTGTAAGATCTTCTCCTGGG -3'
(R):5'- GCTGAGGGACCCATCATAGATG -3'
Sequencing Primer
(F):5'- AAGATCTTCTCCTGGGTTTTCTTAG -3'
(R):5'- TGAGGGACCCATCATAGATGTATTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation