Incidental Mutation 'IGL02525:Znfx1'
| ID |
297031 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02525
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 166879457 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 776
(E776K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000072867
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018143]
[ENSMUST00000048988]
[ENSMUST00000067584]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018143
|
| SMART Domains |
Protein: ENSMUSP00000018143
Gene: ENSMUSG00000017999
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
20 |
33 |
N/A |
INTRINSIC |
|
coiled coil region
|
78 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
133 |
148 |
N/A |
INTRINSIC |
|
low complexity region
|
157 |
166 |
N/A |
INTRINSIC |
|
DEXDc
|
203 |
404 |
2.24e-56 |
SMART |
|
HELICc
|
443 |
524 |
1.71e-29 |
SMART |
|
coiled coil region
|
577 |
613 |
N/A |
INTRINSIC |
|
low complexity region
|
622 |
629 |
N/A |
INTRINSIC |
|
low complexity region
|
644 |
657 |
N/A |
INTRINSIC |
|
low complexity region
|
679 |
692 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048988
AA Change: E1640K
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: E1640K
| 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: ENSMUST00000067584
AA Change: E776K
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: E776K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:AAA_11
|
8 |
170 |
1.2e-17 |
PFAM |
|
Pfam:AAA_12
|
180 |
364 |
7.4e-42 |
PFAM |
|
internal_repeat_2
|
417 |
510 |
1.08e-6 |
PROSPERO |
|
internal_repeat_1
|
428 |
546 |
1.81e-14 |
PROSPERO |
|
low complexity region
|
558 |
569 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
570 |
683 |
1.81e-14 |
PROSPERO |
|
internal_repeat_2
|
589 |
691 |
1.08e-6 |
PROSPERO |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127468
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
C |
T |
8: 25,101,060 (GRCm39) |
V701I |
probably benign |
Het |
| Adam18 |
A |
G |
8: 25,131,783 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
G |
T |
15: 94,180,959 (GRCm39) |
|
probably null |
Het |
| Adgrf5 |
G |
T |
17: 43,760,854 (GRCm39) |
V850F |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,919,070 (GRCm39) |
|
probably null |
Het |
| Ap4b1 |
G |
A |
3: 103,720,164 (GRCm39) |
R62K |
probably damaging |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| Ccdc12 |
T |
A |
9: 110,540,169 (GRCm39) |
D120E |
probably damaging |
Het |
| Ccdc22 |
A |
G |
X: 7,461,249 (GRCm39) |
S529P |
probably damaging |
Het |
| Cilk1 |
A |
G |
9: 78,067,675 (GRCm39) |
K390E |
probably benign |
Het |
| Col1a2 |
A |
G |
6: 4,531,355 (GRCm39) |
|
probably benign |
Het |
| Ddx59 |
A |
T |
1: 136,344,743 (GRCm39) |
Q138L |
probably benign |
Het |
| Dlc1 |
A |
T |
8: 37,046,800 (GRCm39) |
F1091L |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,027,790 (GRCm39) |
V682M |
probably benign |
Het |
| Dock9 |
C |
T |
14: 121,877,538 (GRCm39) |
D404N |
probably damaging |
Het |
| Eif2b4 |
A |
G |
5: 31,346,962 (GRCm39) |
V402A |
probably damaging |
Het |
| Erlin1 |
T |
C |
19: 44,027,634 (GRCm39) |
H268R |
probably benign |
Het |
| Ermard |
T |
C |
17: 15,279,601 (GRCm39) |
|
probably benign |
Het |
| Fam43a |
A |
G |
16: 30,419,596 (GRCm39) |
K60R |
probably benign |
Het |
| Frmd4b |
T |
A |
6: 97,389,494 (GRCm39) |
D78V |
probably damaging |
Het |
| Gabrq |
A |
G |
X: 71,880,430 (GRCm39) |
T308A |
possibly damaging |
Het |
| Gipr |
A |
G |
7: 18,893,690 (GRCm39) |
C328R |
possibly damaging |
Het |
| Gm17078 |
T |
C |
14: 51,848,680 (GRCm39) |
N19S |
possibly damaging |
Het |
| Gm17541 |
T |
C |
12: 4,739,907 (GRCm39) |
|
probably benign |
Het |
| Gm21759 |
T |
C |
5: 8,229,967 (GRCm39) |
|
probably benign |
Het |
| Gm7964 |
A |
G |
7: 83,405,250 (GRCm39) |
|
noncoding transcript |
Het |
| Gspt1 |
A |
G |
16: 11,048,854 (GRCm39) |
V318A |
probably damaging |
Het |
| Gtf2ird2 |
A |
G |
5: 134,245,319 (GRCm39) |
S526G |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,718,643 (GRCm39) |
M1T |
probably null |
Het |
| Hipk3 |
T |
C |
2: 104,301,757 (GRCm39) |
D145G |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,021,777 (GRCm39) |
D886G |
probably damaging |
Het |
| Ktn1 |
T |
A |
14: 47,962,200 (GRCm39) |
|
probably null |
Het |
| Med12l |
A |
G |
3: 58,975,789 (GRCm39) |
K239R |
probably benign |
Het |
| Milr1 |
A |
T |
11: 106,656,101 (GRCm39) |
M124L |
probably benign |
Het |
| Mon1b |
G |
T |
8: 114,365,455 (GRCm39) |
R261L |
possibly damaging |
Het |
| Mterf1a |
G |
A |
5: 3,941,583 (GRCm39) |
S95F |
probably benign |
Het |
| Myef2 |
C |
A |
2: 124,955,978 (GRCm39) |
|
probably benign |
Het |
| Nfrkb |
T |
A |
9: 31,325,812 (GRCm39) |
I1085N |
possibly damaging |
Het |
| Or13f5 |
A |
T |
4: 52,825,616 (GRCm39) |
Y73F |
probably damaging |
Het |
| Or8d2 |
T |
A |
9: 38,759,536 (GRCm39) |
M42K |
possibly damaging |
Het |
| Prodh |
G |
A |
16: 17,890,332 (GRCm39) |
Q430* |
probably null |
Het |
| Pstk |
G |
T |
7: 130,972,922 (GRCm39) |
R7L |
probably benign |
Het |
| Ptgr1 |
C |
A |
4: 58,978,067 (GRCm39) |
E108D |
probably benign |
Het |
| Ptpn9 |
T |
A |
9: 56,944,009 (GRCm39) |
Y294* |
probably null |
Het |
| Rnls |
C |
T |
19: 33,115,614 (GRCm39) |
V153M |
possibly damaging |
Het |
| Ros1 |
T |
C |
10: 51,992,138 (GRCm39) |
T1362A |
possibly damaging |
Het |
| Samt3 |
G |
A |
X: 85,090,527 (GRCm39) |
A140T |
possibly damaging |
Het |
| Sbpl |
T |
A |
17: 24,173,837 (GRCm39) |
M16L |
unknown |
Het |
| Sephs1 |
G |
A |
2: 4,911,407 (GRCm39) |
C327Y |
probably damaging |
Het |
| Slc13a1 |
A |
T |
6: 24,137,135 (GRCm39) |
I93N |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 55,551,051 (GRCm39) |
|
probably benign |
Het |
| Slc7a9 |
T |
C |
7: 35,152,860 (GRCm39) |
S93P |
probably damaging |
Het |
| Slx4 |
A |
G |
16: 3,798,461 (GRCm39) |
S1444P |
probably damaging |
Het |
| Spmap2l |
T |
A |
5: 77,164,400 (GRCm39) |
D134E |
probably benign |
Het |
| Stk32b |
C |
T |
5: 37,688,977 (GRCm39) |
V116M |
probably damaging |
Het |
| Supt5 |
A |
G |
7: 28,018,372 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,147,777 (GRCm39) |
S6439T |
probably damaging |
Het |
| Taar7d |
A |
G |
10: 23,903,994 (GRCm39) |
D292G |
possibly damaging |
Het |
| Tal2 |
A |
T |
4: 53,785,971 (GRCm39) |
I51F |
probably damaging |
Het |
| Tk2 |
A |
T |
8: 104,970,032 (GRCm39) |
N77K |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,413,865 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf10b |
T |
C |
14: 70,019,825 (GRCm39) |
M319T |
probably damaging |
Het |
| Trim24 |
A |
G |
6: 37,922,653 (GRCm39) |
R417G |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,594,658 (GRCm39) |
G18717* |
probably null |
Het |
| Vmn2r102 |
A |
G |
17: 19,901,447 (GRCm39) |
T525A |
probably benign |
Het |
| Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
| Wnt3 |
C |
T |
11: 103,703,296 (GRCm39) |
R260W |
probably damaging |
Het |
| Xdh |
T |
A |
17: 74,231,990 (GRCm39) |
Q240L |
possibly damaging |
Het |
| Zbtb5 |
T |
C |
4: 44,994,731 (GRCm39) |
T218A |
probably benign |
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 |
|
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 |
|
R1533:Znfx1
|
UTSW |
2 |
166,898,708 (GRCm39) |
missense |
probably benign |
0.10 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation