Incidental Mutation 'R1533:Znfx1'
ID |
166724 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znfx1
|
Ensembl Gene |
ENSMUSG00000039501 |
Gene Name |
zinc finger, NFX1-type containing 1 |
Synonyms |
|
MMRRC Submission |
039572-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1533 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 166898708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 72
(H72L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121598
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
AlphaFold |
Q8R151 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048988
AA Change: H72L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000049404 Gene: ENSMUSG00000039501 AA Change: H72L
Domain | Start | End | E-Value | Type |
Pfam:AAA_11
|
590 |
855 |
2.2e-17 |
PFAM |
Pfam:AAA_19
|
597 |
684 |
1.7e-10 |
PFAM |
Pfam:AAA_11
|
829 |
1033 |
1.4e-18 |
PFAM |
Pfam:AAA_12
|
1044 |
1228 |
3.7e-42 |
PFAM |
internal_repeat_2
|
1281 |
1374 |
1.33e-7 |
PROSPERO |
internal_repeat_1
|
1292 |
1410 |
1.32e-16 |
PROSPERO |
low complexity region
|
1422 |
1433 |
N/A |
INTRINSIC |
internal_repeat_1
|
1434 |
1547 |
1.32e-16 |
PROSPERO |
internal_repeat_2
|
1453 |
1555 |
1.33e-7 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128676
AA Change: H72L
PolyPhen 2
Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000121598 Gene: ENSMUSG00000039501 AA Change: H72L
Domain | Start | End | E-Value | Type |
Pfam:AAA_11
|
590 |
837 |
1.8e-17 |
PFAM |
Pfam:AAA_19
|
597 |
684 |
3.4e-11 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135967
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155281
AA Change: H72L
PolyPhen 2
Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000121750 Gene: ENSMUSG00000039501 AA Change: H72L
Domain | Start | End | E-Value | Type |
Pfam:AAA_11
|
590 |
854 |
1.7e-17 |
PFAM |
Pfam:AAA_19
|
597 |
684 |
3.6e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
G |
C |
3: 121,928,807 (GRCm39) |
G1340A |
probably benign |
Het |
Ambra1 |
T |
A |
2: 91,717,210 (GRCm39) |
Y836N |
probably damaging |
Het |
Arhgap26 |
A |
T |
18: 39,504,130 (GRCm39) |
H144L |
probably benign |
Het |
B3gnt5 |
A |
G |
16: 19,588,364 (GRCm39) |
I194M |
probably damaging |
Het |
Bltp1 |
G |
T |
3: 37,095,524 (GRCm39) |
G4509V |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,979,498 (GRCm39) |
C605* |
probably null |
Het |
C2cd3 |
G |
T |
7: 100,055,284 (GRCm39) |
K482N |
possibly damaging |
Het |
Cd300lg |
T |
A |
11: 101,934,047 (GRCm39) |
L98Q |
probably damaging |
Het |
Cerkl |
T |
A |
2: 79,171,701 (GRCm39) |
I386F |
possibly damaging |
Het |
Cfh |
T |
A |
1: 140,028,716 (GRCm39) |
D466V |
possibly damaging |
Het |
Crtc1 |
A |
T |
8: 70,850,949 (GRCm39) |
I221N |
probably damaging |
Het |
Ctnnbl1 |
T |
C |
2: 157,678,563 (GRCm39) |
S389P |
probably benign |
Het |
Ctsb |
A |
T |
14: 63,376,544 (GRCm39) |
D258V |
probably damaging |
Het |
Cuzd1 |
G |
T |
7: 130,913,432 (GRCm39) |
T395N |
probably damaging |
Het |
Dnah6 |
T |
C |
6: 73,128,536 (GRCm39) |
T1240A |
probably benign |
Het |
Dok7 |
T |
A |
5: 35,221,671 (GRCm39) |
|
probably null |
Het |
Dscaml1 |
T |
C |
9: 45,361,882 (GRCm39) |
V214A |
probably damaging |
Het |
Enpp6 |
A |
T |
8: 47,518,469 (GRCm39) |
Y199F |
probably benign |
Het |
Entpd5 |
C |
A |
12: 84,441,434 (GRCm39) |
K111N |
probably damaging |
Het |
Fam98a |
A |
G |
17: 75,848,276 (GRCm39) |
L146S |
probably damaging |
Het |
Fhod3 |
A |
T |
18: 25,248,921 (GRCm39) |
I1367F |
probably damaging |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Fpr3 |
T |
A |
17: 18,190,922 (GRCm39) |
Y64* |
probably null |
Het |
Fzd6 |
A |
T |
15: 38,895,019 (GRCm39) |
H395L |
probably damaging |
Het |
Gcsh |
T |
A |
8: 117,715,921 (GRCm39) |
H54L |
probably damaging |
Het |
Gsdma |
T |
A |
11: 98,567,210 (GRCm39) |
S437T |
unknown |
Het |
Gzmc |
A |
G |
14: 56,471,376 (GRCm39) |
V55A |
probably damaging |
Het |
Hecw2 |
T |
A |
1: 53,965,704 (GRCm39) |
|
probably null |
Het |
Ifi207 |
A |
G |
1: 173,555,306 (GRCm39) |
V792A |
probably benign |
Het |
Itpr3 |
C |
A |
17: 27,314,534 (GRCm39) |
N661K |
possibly damaging |
Het |
Jmy |
A |
T |
13: 93,577,819 (GRCm39) |
I783N |
probably benign |
Het |
Kcmf1 |
T |
C |
6: 72,820,003 (GRCm39) |
E281G |
possibly damaging |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Lgr6 |
T |
A |
1: 135,032,670 (GRCm39) |
Y70F |
possibly damaging |
Het |
Lnx1 |
T |
G |
5: 74,780,678 (GRCm39) |
D330A |
probably damaging |
Het |
Lrp5 |
T |
C |
19: 3,664,234 (GRCm39) |
N106S |
probably benign |
Het |
Mamdc4 |
C |
A |
2: 25,459,759 (GRCm39) |
R135L |
possibly damaging |
Het |
Mcm3ap |
A |
G |
10: 76,340,121 (GRCm39) |
E1464G |
probably damaging |
Het |
Megf8 |
T |
C |
7: 25,034,280 (GRCm39) |
V666A |
possibly damaging |
Het |
Mettl3 |
T |
A |
14: 52,534,385 (GRCm39) |
E331D |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,405,204 (GRCm39) |
K789R |
probably damaging |
Het |
Mtf2 |
T |
C |
5: 108,239,995 (GRCm39) |
L234P |
probably damaging |
Het |
Ncdn |
C |
A |
4: 126,642,491 (GRCm39) |
E389* |
probably null |
Het |
Ndor1 |
A |
G |
2: 25,139,279 (GRCm39) |
S231P |
probably damaging |
Het |
Nelfa |
T |
G |
5: 34,056,215 (GRCm39) |
K483Q |
probably damaging |
Het |
Odad1 |
T |
A |
7: 45,592,282 (GRCm39) |
M354K |
probably benign |
Het |
Opn1sw |
C |
T |
6: 29,378,923 (GRCm39) |
R243Q |
probably benign |
Het |
Or13a24 |
T |
A |
7: 140,155,034 (GRCm39) |
|
probably null |
Het |
Or9e1 |
A |
G |
11: 58,732,792 (GRCm39) |
N284S |
probably damaging |
Het |
Pik3cd |
T |
C |
4: 149,739,653 (GRCm39) |
E584G |
probably damaging |
Het |
Plcb3 |
A |
T |
19: 6,935,041 (GRCm39) |
M870K |
possibly damaging |
Het |
Poc5 |
A |
G |
13: 96,528,152 (GRCm39) |
D16G |
probably damaging |
Het |
Prpf40a |
A |
G |
2: 53,035,852 (GRCm39) |
I633T |
probably damaging |
Het |
Ptpn13 |
G |
T |
5: 103,704,044 (GRCm39) |
E1359* |
probably null |
Het |
Ptprr |
C |
A |
10: 116,024,113 (GRCm39) |
Y4* |
probably null |
Het |
Rbm45 |
T |
C |
2: 76,202,503 (GRCm39) |
|
probably null |
Het |
Rfng |
C |
T |
11: 120,672,687 (GRCm39) |
W320* |
probably null |
Het |
Rgs6 |
G |
T |
12: 83,138,547 (GRCm39) |
V294L |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,169,002 (GRCm39) |
|
probably null |
Het |
Ruvbl2 |
T |
A |
7: 45,073,566 (GRCm39) |
N313I |
probably damaging |
Het |
Sema4g |
G |
A |
19: 44,981,256 (GRCm39) |
V70M |
probably damaging |
Het |
Siglec1 |
T |
C |
2: 130,918,078 (GRCm39) |
T969A |
probably benign |
Het |
Slc22a27 |
T |
A |
19: 7,844,348 (GRCm39) |
T431S |
possibly damaging |
Het |
Slc25a16 |
G |
A |
10: 62,756,643 (GRCm39) |
R38H |
probably damaging |
Het |
Slc38a6 |
T |
C |
12: 73,391,626 (GRCm39) |
V296A |
probably benign |
Het |
Slc39a11 |
C |
T |
11: 113,196,748 (GRCm39) |
V212I |
probably damaging |
Het |
Sltm |
A |
G |
9: 70,493,948 (GRCm39) |
K782E |
probably damaging |
Het |
Styxl1 |
T |
A |
5: 135,799,175 (GRCm39) |
Y23F |
probably damaging |
Het |
Svs4 |
T |
C |
2: 164,120,148 (GRCm39) |
I20V |
unknown |
Het |
Syt14 |
G |
T |
1: 192,613,084 (GRCm39) |
T572K |
possibly damaging |
Het |
Tbc1d5 |
A |
T |
17: 51,227,603 (GRCm39) |
I214N |
possibly damaging |
Het |
Tm9sf3 |
A |
G |
19: 41,227,223 (GRCm39) |
S283P |
probably benign |
Het |
Tmtc1 |
C |
T |
6: 148,147,208 (GRCm39) |
|
probably null |
Het |
Ttll7 |
T |
A |
3: 146,602,422 (GRCm39) |
N73K |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,602,802 (GRCm39) |
K18473N |
probably damaging |
Het |
Ubr2 |
A |
C |
17: 47,278,173 (GRCm39) |
Y721* |
probably null |
Het |
Vmn1r14 |
T |
A |
6: 57,211,286 (GRCm39) |
I288N |
probably damaging |
Het |
Vmn2r103 |
T |
C |
17: 19,993,662 (GRCm39) |
I13T |
probably benign |
Het |
Vps13a |
A |
T |
19: 16,678,494 (GRCm39) |
Y1162* |
probably null |
Het |
Vps51 |
C |
A |
19: 6,121,497 (GRCm39) |
R175L |
probably benign |
Het |
Zfp523 |
C |
A |
17: 28,423,473 (GRCm39) |
S149R |
probably benign |
Het |
Zik1 |
A |
G |
7: 10,224,053 (GRCm39) |
I348T |
possibly damaging |
Het |
|
Other mutations in Znfx1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00324:Znfx1
|
APN |
2 |
166,878,649 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL00492:Znfx1
|
APN |
2 |
166,878,843 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01285:Znfx1
|
APN |
2 |
166,880,615 (GRCm39) |
missense |
possibly damaging |
0.76 |
IGL01343:Znfx1
|
APN |
2 |
166,879,283 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01767:Znfx1
|
APN |
2 |
166,897,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01983:Znfx1
|
APN |
2 |
166,898,270 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02006:Znfx1
|
APN |
2 |
166,897,683 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02254:Znfx1
|
APN |
2 |
166,897,643 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02421:Znfx1
|
APN |
2 |
166,902,000 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02496:Znfx1
|
APN |
2 |
166,889,550 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL02525:Znfx1
|
APN |
2 |
166,879,457 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02528:Znfx1
|
APN |
2 |
166,892,324 (GRCm39) |
missense |
probably benign |
0.11 |
IGL02537:Znfx1
|
APN |
2 |
166,898,087 (GRCm39) |
missense |
probably benign |
0.37 |
IGL03065:Znfx1
|
APN |
2 |
166,897,685 (GRCm39) |
missense |
probably benign |
0.00 |
raywing
|
UTSW |
2 |
166,879,738 (GRCm39) |
missense |
probably damaging |
1.00 |
sharkfin
|
UTSW |
2 |
166,898,237 (GRCm39) |
missense |
probably benign |
0.03 |
skate
|
UTSW |
2 |
166,880,137 (GRCm39) |
missense |
probably benign |
0.06 |
R0127:Znfx1
|
UTSW |
2 |
166,886,130 (GRCm39) |
missense |
possibly damaging |
0.84 |
R0331:Znfx1
|
UTSW |
2 |
166,888,898 (GRCm39) |
missense |
probably benign |
0.11 |
R0488:Znfx1
|
UTSW |
2 |
166,884,483 (GRCm39) |
missense |
possibly damaging |
0.52 |
R0497:Znfx1
|
UTSW |
2 |
166,897,331 (GRCm39) |
missense |
probably benign |
0.03 |
R0537:Znfx1
|
UTSW |
2 |
166,883,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R0542:Znfx1
|
UTSW |
2 |
166,897,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R0650:Znfx1
|
UTSW |
2 |
166,889,574 (GRCm39) |
nonsense |
probably null |
|
R0655:Znfx1
|
UTSW |
2 |
166,898,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R1104:Znfx1
|
UTSW |
2 |
166,897,560 (GRCm39) |
nonsense |
probably null |
|
R1470:Znfx1
|
UTSW |
2 |
166,884,507 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1470:Znfx1
|
UTSW |
2 |
166,884,507 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1512:Znfx1
|
UTSW |
2 |
166,898,237 (GRCm39) |
missense |
probably benign |
0.03 |
R1541:Znfx1
|
UTSW |
2 |
166,898,110 (GRCm39) |
missense |
probably damaging |
0.99 |
R1642:Znfx1
|
UTSW |
2 |
166,880,930 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1720:Znfx1
|
UTSW |
2 |
166,885,986 (GRCm39) |
nonsense |
probably null |
|
R1760:Znfx1
|
UTSW |
2 |
166,881,786 (GRCm39) |
missense |
probably damaging |
0.96 |
R1865:Znfx1
|
UTSW |
2 |
166,880,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R1959:Znfx1
|
UTSW |
2 |
166,892,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R2088:Znfx1
|
UTSW |
2 |
166,897,730 (GRCm39) |
missense |
probably damaging |
1.00 |
R4581:Znfx1
|
UTSW |
2 |
166,892,236 (GRCm39) |
missense |
probably damaging |
1.00 |
R4622:Znfx1
|
UTSW |
2 |
166,883,673 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4649:Znfx1
|
UTSW |
2 |
166,898,276 (GRCm39) |
missense |
probably benign |
0.08 |
R4685:Znfx1
|
UTSW |
2 |
166,880,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R4798:Znfx1
|
UTSW |
2 |
166,880,489 (GRCm39) |
splice site |
probably null |
|
R4827:Znfx1
|
UTSW |
2 |
166,886,151 (GRCm39) |
missense |
possibly damaging |
0.77 |
R4870:Znfx1
|
UTSW |
2 |
166,897,189 (GRCm39) |
missense |
probably benign |
|
R4910:Znfx1
|
UTSW |
2 |
166,879,402 (GRCm39) |
missense |
probably benign |
0.00 |
R4910:Znfx1
|
UTSW |
2 |
166,878,724 (GRCm39) |
missense |
probably damaging |
1.00 |
R5022:Znfx1
|
UTSW |
2 |
166,881,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R5023:Znfx1
|
UTSW |
2 |
166,881,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Znfx1
|
UTSW |
2 |
166,881,746 (GRCm39) |
missense |
probably damaging |
1.00 |
R5061:Znfx1
|
UTSW |
2 |
166,907,318 (GRCm39) |
unclassified |
probably benign |
|
R5119:Znfx1
|
UTSW |
2 |
166,907,307 (GRCm39) |
unclassified |
probably benign |
|
R5125:Znfx1
|
UTSW |
2 |
166,888,859 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5896:Znfx1
|
UTSW |
2 |
166,880,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R6107:Znfx1
|
UTSW |
2 |
166,879,001 (GRCm39) |
missense |
possibly damaging |
0.67 |
R6112:Znfx1
|
UTSW |
2 |
166,880,126 (GRCm39) |
missense |
probably benign |
|
R6158:Znfx1
|
UTSW |
2 |
166,898,646 (GRCm39) |
missense |
probably benign |
0.19 |
R6281:Znfx1
|
UTSW |
2 |
166,897,805 (GRCm39) |
missense |
probably damaging |
1.00 |
R6464:Znfx1
|
UTSW |
2 |
166,888,842 (GRCm39) |
missense |
probably benign |
0.34 |
R6749:Znfx1
|
UTSW |
2 |
166,898,519 (GRCm39) |
missense |
probably benign |
0.00 |
R6888:Znfx1
|
UTSW |
2 |
166,880,860 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6973:Znfx1
|
UTSW |
2 |
166,898,681 (GRCm39) |
missense |
probably benign |
0.18 |
R7017:Znfx1
|
UTSW |
2 |
166,890,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R7138:Znfx1
|
UTSW |
2 |
166,898,697 (GRCm39) |
missense |
probably benign |
0.03 |
R7192:Znfx1
|
UTSW |
2 |
166,884,110 (GRCm39) |
missense |
probably benign |
0.00 |
R7426:Znfx1
|
UTSW |
2 |
166,890,475 (GRCm39) |
missense |
probably damaging |
1.00 |
R7431:Znfx1
|
UTSW |
2 |
166,897,712 (GRCm39) |
missense |
probably damaging |
1.00 |
R7473:Znfx1
|
UTSW |
2 |
166,880,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Znfx1
|
UTSW |
2 |
166,898,145 (GRCm39) |
missense |
probably benign |
0.28 |
R7732:Znfx1
|
UTSW |
2 |
166,884,589 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7835:Znfx1
|
UTSW |
2 |
166,881,747 (GRCm39) |
missense |
probably damaging |
1.00 |
R7993:Znfx1
|
UTSW |
2 |
166,897,857 (GRCm39) |
nonsense |
probably null |
|
R8154:Znfx1
|
UTSW |
2 |
166,897,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R8351:Znfx1
|
UTSW |
2 |
166,897,575 (GRCm39) |
missense |
probably damaging |
1.00 |
R8790:Znfx1
|
UTSW |
2 |
166,892,500 (GRCm39) |
intron |
probably benign |
|
R8953:Znfx1
|
UTSW |
2 |
166,897,421 (GRCm39) |
missense |
probably damaging |
1.00 |
R9005:Znfx1
|
UTSW |
2 |
166,880,656 (GRCm39) |
missense |
|
|
R9131:Znfx1
|
UTSW |
2 |
166,892,298 (GRCm39) |
missense |
probably benign |
|
R9163:Znfx1
|
UTSW |
2 |
166,898,261 (GRCm39) |
missense |
probably damaging |
1.00 |
R9169:Znfx1
|
UTSW |
2 |
166,897,185 (GRCm39) |
missense |
probably benign |
|
R9181:Znfx1
|
UTSW |
2 |
166,880,137 (GRCm39) |
missense |
probably benign |
0.06 |
R9181:Znfx1
|
UTSW |
2 |
166,879,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R9300:Znfx1
|
UTSW |
2 |
166,897,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R9448:Znfx1
|
UTSW |
2 |
166,888,844 (GRCm39) |
missense |
probably benign |
0.04 |
R9569:Znfx1
|
UTSW |
2 |
166,897,875 (GRCm39) |
missense |
|
|
X0064:Znfx1
|
UTSW |
2 |
166,897,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTTGTTCAGGATGCCCAGCAC -3'
(R):5'- GGTCCTATGGATGGAGAATTGCCAC -3'
Sequencing Primer
(F):5'- AGGAACTTGTAGCCCAGTCTC -3'
(R):5'- TGGAGAATTGCCACCAAGAGC -3'
|
Posted On |
2014-04-13 |