Incidental Mutation 'R1512:Znfx1'
ID |
168394 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znfx1
|
Ensembl Gene |
ENSMUSG00000039501 |
Gene Name |
zinc finger, NFX1-type containing 1 |
Synonyms |
|
MMRRC Submission |
039559-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1512 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 166898237 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 229
(I229S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
AlphaFold |
Q8R151 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048988
AA Change: I229S
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000049404 Gene: ENSMUSG00000039501 AA Change: I229S
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: I229S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000121598 Gene: ENSMUSG00000039501 AA Change: I229S
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: I229S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000121750 Gene: ENSMUSG00000039501 AA Change: I229S
Domain | Start | End | E-Value | Type |
Pfam:AAA_11
|
590 |
854 |
1.7e-17 |
PFAM |
Pfam:AAA_19
|
597 |
684 |
3.6e-11 |
PFAM |
|
Meta Mutation Damage Score |
0.1087 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.0%
|
Validation Efficiency |
95% (79/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
A |
11: 84,086,295 (GRCm39) |
D40E |
probably benign |
Het |
Acsf2 |
C |
T |
11: 94,452,224 (GRCm39) |
|
probably benign |
Het |
Adamts19 |
C |
T |
18: 59,181,917 (GRCm39) |
H1119Y |
possibly damaging |
Het |
Akap6 |
A |
G |
12: 52,983,937 (GRCm39) |
D827G |
probably damaging |
Het |
Ankrd33b |
T |
C |
15: 31,367,375 (GRCm39) |
D55G |
probably damaging |
Het |
Ano5 |
T |
A |
7: 51,229,316 (GRCm39) |
H569Q |
probably benign |
Het |
Aox1 |
A |
G |
1: 58,346,510 (GRCm39) |
D548G |
probably benign |
Het |
Baz2a |
A |
G |
10: 127,960,021 (GRCm39) |
D1433G |
possibly damaging |
Het |
BC031181 |
T |
G |
18: 75,141,767 (GRCm39) |
V8G |
probably damaging |
Het |
Bicdl2 |
A |
T |
17: 23,887,083 (GRCm39) |
M457L |
probably damaging |
Het |
C130074G19Rik |
T |
C |
1: 184,615,103 (GRCm39) |
D29G |
probably damaging |
Het |
Cd200r1 |
A |
T |
16: 44,586,390 (GRCm39) |
T7S |
probably benign |
Het |
Cdc37 |
A |
G |
9: 21,053,712 (GRCm39) |
|
probably benign |
Het |
Cmtr2 |
T |
C |
8: 110,949,267 (GRCm39) |
S526P |
probably damaging |
Het |
Cntn2 |
G |
T |
1: 132,451,430 (GRCm39) |
A433D |
probably damaging |
Het |
Cntnap5a |
T |
C |
1: 115,828,680 (GRCm39) |
S35P |
probably benign |
Het |
Csf3r |
A |
G |
4: 125,923,777 (GRCm39) |
T96A |
possibly damaging |
Het |
Ctbs |
A |
G |
3: 146,160,720 (GRCm39) |
N96D |
probably benign |
Het |
Cyp26b1 |
C |
A |
6: 84,553,979 (GRCm39) |
V213L |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,138,835 (GRCm39) |
L536P |
probably damaging |
Het |
Dcaf6 |
T |
C |
1: 165,179,589 (GRCm39) |
Q517R |
probably benign |
Het |
Dnah1 |
G |
T |
14: 31,014,994 (GRCm39) |
Q1733K |
probably damaging |
Het |
Dnah17 |
A |
T |
11: 117,985,841 (GRCm39) |
I1416N |
probably benign |
Het |
Dock11 |
G |
A |
X: 35,283,688 (GRCm39) |
R1102H |
probably damaging |
Het |
Dpp8 |
T |
C |
9: 64,971,096 (GRCm39) |
|
probably benign |
Het |
Emc1 |
G |
A |
4: 139,087,495 (GRCm39) |
|
probably null |
Het |
Emc8 |
A |
G |
8: 121,384,983 (GRCm39) |
L76P |
possibly damaging |
Het |
Emx2 |
T |
C |
19: 59,448,035 (GRCm39) |
Y130H |
possibly damaging |
Het |
Fbf1 |
C |
T |
11: 116,038,753 (GRCm39) |
R815Q |
probably damaging |
Het |
Foxb2 |
G |
A |
19: 16,849,878 (GRCm39) |
P376L |
probably damaging |
Het |
Gabrb1 |
C |
A |
5: 72,266,047 (GRCm39) |
L202I |
probably damaging |
Het |
Gabrb1 |
T |
A |
5: 72,266,048 (GRCm39) |
L202Q |
probably damaging |
Het |
Grin2c |
T |
A |
11: 115,144,676 (GRCm39) |
I617F |
probably damaging |
Het |
Gtf2h3 |
T |
A |
5: 124,728,933 (GRCm39) |
V164E |
probably damaging |
Het |
Gusb |
T |
C |
5: 130,029,731 (GRCm39) |
Q88R |
probably damaging |
Het |
Hormad2 |
T |
A |
11: 4,374,788 (GRCm39) |
K75N |
probably damaging |
Het |
Il33 |
A |
G |
19: 29,929,390 (GRCm39) |
T38A |
possibly damaging |
Het |
Ivns1abp |
A |
T |
1: 151,236,687 (GRCm39) |
Q416L |
possibly damaging |
Het |
Ivns1abp |
G |
C |
1: 151,236,688 (GRCm39) |
Q416H |
probably benign |
Het |
Kcnh5 |
T |
A |
12: 75,166,711 (GRCm39) |
H178L |
probably benign |
Het |
Kif21b |
A |
G |
1: 136,080,543 (GRCm39) |
N579S |
probably benign |
Het |
Kif26a |
G |
C |
12: 112,113,389 (GRCm39) |
R95P |
possibly damaging |
Het |
Kl |
A |
G |
5: 150,912,062 (GRCm39) |
I604V |
probably benign |
Het |
Klhl24 |
A |
G |
16: 19,941,686 (GRCm39) |
K545E |
probably damaging |
Het |
Mcm3ap |
A |
G |
10: 76,306,347 (GRCm39) |
I153M |
probably damaging |
Het |
Meis1 |
T |
G |
11: 18,831,682 (GRCm39) |
D452A |
probably damaging |
Het |
Msantd4 |
C |
T |
9: 4,384,138 (GRCm39) |
P153L |
probably benign |
Het |
Myot |
A |
G |
18: 44,475,422 (GRCm39) |
E181G |
probably damaging |
Het |
Nf1 |
T |
C |
11: 79,281,195 (GRCm39) |
F150S |
probably damaging |
Het |
Nyap2 |
T |
A |
1: 81,219,566 (GRCm39) |
S529R |
probably damaging |
Het |
Or10d3 |
T |
C |
9: 39,461,390 (GRCm39) |
Y259C |
probably damaging |
Het |
Or12e10 |
A |
T |
2: 87,640,988 (GRCm39) |
T275S |
probably benign |
Het |
Or2y1c |
A |
G |
11: 49,361,286 (GRCm39) |
I103V |
probably benign |
Het |
Or8b56 |
T |
A |
9: 38,739,660 (GRCm39) |
Y224* |
probably null |
Het |
Pcnt |
C |
T |
10: 76,240,496 (GRCm39) |
|
probably null |
Het |
Pik3c3 |
T |
C |
18: 30,455,289 (GRCm39) |
|
probably null |
Het |
Pkdcc |
A |
T |
17: 83,527,473 (GRCm39) |
Y217F |
possibly damaging |
Het |
Pnpla6 |
C |
A |
8: 3,585,459 (GRCm39) |
|
probably benign |
Het |
Polr3gl |
T |
C |
3: 96,488,190 (GRCm39) |
M26V |
probably benign |
Het |
Ppp1r13b |
T |
C |
12: 111,838,842 (GRCm39) |
N12S |
possibly damaging |
Het |
Ppp1r26 |
G |
A |
2: 28,341,528 (GRCm39) |
R386K |
probably benign |
Het |
Prdm10 |
A |
G |
9: 31,248,697 (GRCm39) |
E355G |
probably damaging |
Het |
Prex2 |
T |
C |
1: 11,131,554 (GRCm39) |
F41S |
possibly damaging |
Het |
Prkar1b |
G |
T |
5: 139,036,428 (GRCm39) |
Y231* |
probably null |
Het |
Prkdc |
A |
T |
16: 15,505,268 (GRCm39) |
I857L |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,390,425 (GRCm39) |
N10K |
probably benign |
Het |
Rapgef3 |
A |
T |
15: 97,655,382 (GRCm39) |
V444E |
probably benign |
Het |
Rnf17 |
A |
T |
14: 56,705,243 (GRCm39) |
T716S |
probably benign |
Het |
Rps6ka1 |
C |
T |
4: 133,578,315 (GRCm39) |
R577H |
probably damaging |
Het |
Scn1a |
A |
C |
2: 66,161,629 (GRCm39) |
N306K |
possibly damaging |
Het |
Skint6 |
A |
G |
4: 113,095,329 (GRCm39) |
I110T |
probably damaging |
Het |
Ssu2 |
A |
G |
6: 112,364,959 (GRCm39) |
M1T |
probably null |
Het |
Stag3 |
A |
T |
5: 138,296,247 (GRCm39) |
T437S |
probably benign |
Het |
Tal2 |
A |
G |
4: 53,786,107 (GRCm39) |
Y96C |
probably benign |
Het |
Thoc3 |
A |
T |
13: 54,613,991 (GRCm39) |
|
probably null |
Het |
Tle1 |
T |
C |
4: 72,059,495 (GRCm39) |
D19G |
probably damaging |
Het |
Trpm4 |
A |
G |
7: 44,964,468 (GRCm39) |
I690T |
probably benign |
Het |
Trpm6 |
A |
T |
19: 18,853,295 (GRCm39) |
M1772L |
probably benign |
Het |
Unc5b |
G |
A |
10: 60,667,254 (GRCm39) |
|
probably benign |
Het |
Usf3 |
G |
T |
16: 44,041,561 (GRCm39) |
V2014F |
probably damaging |
Het |
Utp18 |
C |
T |
11: 93,776,390 (GRCm39) |
A32T |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,682,765 (GRCm39) |
V2981A |
probably damaging |
Het |
Zfp608 |
A |
G |
18: 55,079,738 (GRCm39) |
V349A |
probably 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACAGCAGTGCTCTCGTATTTCCC -3'
(R):5'- TCCATGAAGCCCAGCTTCCTTCAG -3'
Sequencing Primer
(F):5'- CGAAGGAAGGGCTTCTCATC -3'
(R):5'- AGCTGATCTGCCAAGTTCTC -3'
|
Posted On |
2014-04-13 |