Incidental Mutation 'R1642:Znfx1'
| ID |
173589 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
039678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1642 (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 C
at 166880930 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 285
(I285V)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000048988
AA Change: I1149V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: I1149V
| 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 |
possibly damaging
Transcript: ENSMUST00000067584
AA Change: I285V
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: I285V
| 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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057J18Rik |
A |
G |
10: 28,862,233 (GRCm39) |
V19A |
probably benign |
Het |
| 6820408C15Rik |
T |
C |
2: 152,282,774 (GRCm39) |
Y210H |
probably damaging |
Het |
| Aars1 |
T |
A |
8: 111,769,882 (GRCm39) |
I327N |
possibly damaging |
Het |
| Abca6 |
T |
A |
11: 110,109,107 (GRCm39) |
N688Y |
possibly damaging |
Het |
| Ablim3 |
T |
C |
18: 61,947,382 (GRCm39) |
K457R |
probably benign |
Het |
| Acsm2 |
A |
T |
7: 119,162,860 (GRCm39) |
N45Y |
probably damaging |
Het |
| Agxt2 |
T |
C |
15: 10,373,917 (GRCm39) |
S108P |
probably damaging |
Het |
| Akr1cl |
A |
T |
1: 65,060,588 (GRCm39) |
M174K |
probably benign |
Het |
| Armh4 |
T |
C |
14: 50,005,867 (GRCm39) |
|
probably null |
Het |
| Bfsp1 |
G |
A |
2: 143,683,683 (GRCm39) |
R214W |
probably damaging |
Het |
| Cby3 |
A |
G |
11: 50,250,343 (GRCm39) |
D183G |
probably damaging |
Het |
| Clip2 |
T |
C |
5: 134,532,107 (GRCm39) |
D566G |
possibly damaging |
Het |
| Colgalt1 |
A |
G |
8: 72,073,401 (GRCm39) |
I341V |
probably benign |
Het |
| Cyp2c38 |
T |
A |
19: 39,390,153 (GRCm39) |
D349V |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,406,399 (GRCm39) |
I18F |
unknown |
Het |
| Degs2 |
C |
T |
12: 108,658,451 (GRCm39) |
C176Y |
probably benign |
Het |
| Dhx16 |
A |
T |
17: 36,201,957 (GRCm39) |
T995S |
probably damaging |
Het |
| Dicer1 |
A |
T |
12: 104,679,415 (GRCm39) |
C521S |
probably damaging |
Het |
| Dop1b |
T |
C |
16: 93,559,203 (GRCm39) |
S532P |
probably benign |
Het |
| Dpysl4 |
T |
G |
7: 138,670,254 (GRCm39) |
M124R |
probably damaging |
Het |
| Eml6 |
A |
G |
11: 29,727,001 (GRCm39) |
|
probably null |
Het |
| Erbb4 |
A |
T |
1: 68,370,393 (GRCm39) |
V395D |
probably damaging |
Het |
| Esf1 |
T |
C |
2: 140,000,406 (GRCm39) |
D460G |
possibly damaging |
Het |
| F830045P16Rik |
G |
A |
2: 129,305,634 (GRCm39) |
H247Y |
probably benign |
Het |
| Fsbp |
T |
A |
4: 11,583,965 (GRCm39) |
S221R |
probably benign |
Het |
| Fstl5 |
T |
A |
3: 76,317,929 (GRCm39) |
N198K |
possibly damaging |
Het |
| Gemin5 |
G |
T |
11: 58,029,906 (GRCm39) |
H855Q |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,535 (GRCm39) |
E103G |
probably benign |
Het |
| I0C0044D17Rik |
A |
G |
4: 98,708,471 (GRCm39) |
|
probably benign |
Het |
| Iqca1l |
C |
A |
5: 24,757,686 (GRCm39) |
R177L |
probably damaging |
Het |
| Itgb4 |
A |
T |
11: 115,898,183 (GRCm39) |
R1646W |
probably damaging |
Het |
| Klri2 |
A |
T |
6: 129,715,837 (GRCm39) |
C121S |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,806,008 (GRCm39) |
Y703C |
probably damaging |
Het |
| Lrrc10 |
A |
G |
10: 116,881,788 (GRCm39) |
N154S |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 103,050,317 (GRCm39) |
F812L |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,380,010 (GRCm39) |
Y1564C |
probably damaging |
Het |
| Ndufc1 |
T |
C |
3: 51,315,664 (GRCm39) |
T25A |
probably benign |
Het |
| Neurl4 |
A |
G |
11: 69,794,485 (GRCm39) |
M23V |
probably benign |
Het |
| Nnt |
A |
G |
13: 119,541,086 (GRCm39) |
|
probably null |
Het |
| Nolc1 |
G |
C |
19: 46,067,461 (GRCm39) |
|
probably null |
Het |
| Nrg1 |
A |
T |
8: 32,314,536 (GRCm39) |
M289K |
probably benign |
Het |
| Oas3 |
G |
T |
5: 120,915,639 (GRCm39) |
H17Q |
possibly damaging |
Het |
| Or10h1 |
A |
G |
17: 33,418,430 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2z2 |
A |
G |
11: 58,346,664 (GRCm39) |
I37T |
probably benign |
Het |
| Or5m5 |
A |
G |
2: 85,814,201 (GRCm39) |
K6E |
probably benign |
Het |
| Or8g36 |
C |
T |
9: 39,422,650 (GRCm39) |
R122H |
possibly damaging |
Het |
| Parp9 |
T |
C |
16: 35,788,067 (GRCm39) |
Y612H |
probably benign |
Het |
| Pcdh1 |
A |
T |
18: 38,332,283 (GRCm39) |
M240K |
possibly damaging |
Het |
| Pcdhb9 |
A |
G |
18: 37,533,987 (GRCm39) |
|
probably benign |
Het |
| Plpp2 |
A |
G |
10: 79,366,518 (GRCm39) |
V42A |
probably damaging |
Het |
| Ppic |
C |
T |
18: 53,540,134 (GRCm39) |
V172M |
probably damaging |
Het |
| Ppp1r9b |
A |
G |
11: 94,892,150 (GRCm39) |
|
silent |
Het |
| Prop1 |
A |
G |
11: 50,844,152 (GRCm39) |
V27A |
possibly damaging |
Het |
| Psmc5 |
A |
G |
11: 106,153,242 (GRCm39) |
T295A |
probably benign |
Het |
| Rpa1 |
A |
G |
11: 75,203,517 (GRCm39) |
|
probably null |
Het |
| Rrp12 |
A |
G |
19: 41,860,176 (GRCm39) |
F1016L |
probably damaging |
Het |
| Scn2a |
A |
T |
2: 65,514,041 (GRCm39) |
I242F |
probably damaging |
Het |
| Slco1a6 |
T |
A |
6: 142,032,160 (GRCm39) |
H655L |
probably benign |
Het |
| Sp140 |
G |
A |
1: 85,538,545 (GRCm39) |
|
probably null |
Het |
| Syne1 |
A |
G |
10: 5,298,694 (GRCm39) |
I1071T |
possibly damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,040,659 (GRCm39) |
D392G |
probably damaging |
Het |
| Tcaim |
G |
A |
9: 122,647,838 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
T |
A |
2: 129,889,702 (GRCm39) |
V632E |
probably damaging |
Het |
| Triobp |
C |
A |
15: 78,886,348 (GRCm39) |
R1830S |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,400,329 (GRCm39) |
T1266A |
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 |
|
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 |
|
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 |
|
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'- CATGTTCCCAATGCAGTACATCCCC -3'
(R):5'- TCAGTGTCCAGAGATGACGTGCAG -3'
Sequencing Primer
(F):5'- AATGCAGTACATCCCCTTCTTGG -3'
(R):5'- TGCACAGCACGGGTGAG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation