Incidental Mutation 'R6888:Znfx1'
| ID |
537030 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
044982-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6888 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166880860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 308
(I308N)
|
| 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: I1172N
PolyPhen 2
Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: I1172N
| 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: I308N
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000072867
Gene: ENSMUSG00000039501
AA Change: I308N
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actg1 |
T |
C |
11: 120,238,141 (GRCm39) |
Y190C |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,656,788 (GRCm39) |
I2902T |
probably damaging |
Het |
| AI429214 |
G |
A |
8: 37,460,987 (GRCm39) |
G45D |
possibly damaging |
Het |
| Ambra1 |
A |
G |
2: 91,599,372 (GRCm39) |
D164G |
probably damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,545,299 (GRCm39) |
Q184L |
probably benign |
Het |
| Arhgef17 |
T |
C |
7: 100,580,027 (GRCm39) |
D307G |
possibly damaging |
Het |
| AY761185 |
A |
T |
8: 21,434,571 (GRCm39) |
Y52* |
probably null |
Het |
| Bfsp1 |
A |
G |
2: 143,668,639 (GRCm39) |
S647P |
probably benign |
Het |
| C130073F10Rik |
A |
G |
4: 101,747,453 (GRCm39) |
V192A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
| Ccdc170 |
T |
C |
10: 4,496,854 (GRCm39) |
V458A |
possibly damaging |
Het |
| Ccdc187 |
G |
A |
2: 26,179,746 (GRCm39) |
R238W |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,384,946 (GRCm39) |
S380G |
probably benign |
Het |
| Cdk5rap3 |
T |
C |
11: 96,807,018 (GRCm39) |
H4R |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,313,729 (GRCm39) |
|
probably null |
Het |
| Cstpp1 |
A |
G |
2: 91,252,239 (GRCm39) |
Y41H |
probably damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,504,303 (GRCm39) |
V219A |
probably benign |
Het |
| Drd3 |
A |
T |
16: 43,637,502 (GRCm39) |
I266F |
probably benign |
Het |
| Dut |
A |
G |
2: 125,099,044 (GRCm39) |
D177G |
probably benign |
Het |
| Esr1 |
A |
G |
10: 4,807,076 (GRCm39) |
I331V |
probably benign |
Het |
| Gm11110 |
A |
G |
17: 57,409,143 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
G |
T |
6: 111,335,314 (GRCm39) |
G575V |
possibly damaging |
Het |
| Heatr3 |
A |
G |
8: 88,897,512 (GRCm39) |
Y531C |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,910,218 (GRCm39) |
V122A |
probably benign |
Het |
| Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
| Kntc1 |
T |
C |
5: 123,949,373 (GRCm39) |
Y1915H |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,138,238 (GRCm39) |
D205E |
probably damaging |
Het |
| Limch1 |
C |
T |
5: 67,179,269 (GRCm39) |
T713I |
probably benign |
Het |
| Lrp1b |
A |
G |
2: 41,361,138 (GRCm39) |
I555T |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,354,485 (GRCm39) |
F448I |
probably damaging |
Het |
| Marchf6 |
T |
C |
15: 31,459,379 (GRCm39) |
K896E |
probably benign |
Het |
| Mroh4 |
T |
C |
15: 74,485,098 (GRCm39) |
Y469C |
possibly damaging |
Het |
| Niban3 |
G |
T |
8: 72,056,383 (GRCm39) |
R361L |
probably benign |
Het |
| Nos3 |
T |
C |
5: 24,588,333 (GRCm39) |
V1060A |
possibly damaging |
Het |
| Nr1h4 |
A |
G |
10: 89,292,404 (GRCm39) |
I406T |
probably damaging |
Het |
| Odf2l |
T |
C |
3: 144,854,379 (GRCm39) |
|
probably null |
Het |
| Or2y15 |
A |
T |
11: 49,351,087 (GRCm39) |
T194S |
probably damaging |
Het |
| Or5d14 |
A |
G |
2: 87,880,608 (GRCm39) |
M120T |
probably damaging |
Het |
| Pals2 |
T |
G |
6: 50,157,257 (GRCm39) |
|
probably null |
Het |
| Pbx2 |
A |
G |
17: 34,813,081 (GRCm39) |
Y119C |
possibly damaging |
Het |
| Pdcd6ip |
C |
A |
9: 113,500,905 (GRCm39) |
A526S |
probably benign |
Het |
| Prx |
G |
A |
7: 27,219,059 (GRCm39) |
D1187N |
possibly damaging |
Het |
| Ptpro |
G |
A |
6: 137,357,198 (GRCm39) |
V230I |
probably benign |
Het |
| Rtn3 |
C |
T |
19: 7,434,614 (GRCm39) |
M440I |
probably benign |
Het |
| Sar1b |
T |
C |
11: 51,679,019 (GRCm39) |
I96T |
probably damaging |
Het |
| Sds |
T |
C |
5: 120,618,965 (GRCm39) |
|
probably null |
Het |
| Secisbp2 |
A |
G |
13: 51,833,977 (GRCm39) |
T706A |
probably benign |
Het |
| Sorcs3 |
A |
T |
19: 48,682,263 (GRCm39) |
M433L |
possibly damaging |
Het |
| Sppl2a |
A |
G |
2: 126,746,912 (GRCm39) |
V472A |
probably damaging |
Het |
| Tbc1d9 |
A |
G |
8: 83,998,217 (GRCm39) |
E1258G |
possibly damaging |
Het |
| Tbxas1 |
C |
A |
6: 38,929,008 (GRCm39) |
|
probably benign |
Het |
| Tg |
T |
C |
15: 66,568,095 (GRCm39) |
I1333T |
probably damaging |
Het |
| Tmem108 |
C |
T |
9: 103,376,915 (GRCm39) |
G178D |
probably damaging |
Het |
| Tmem174 |
A |
G |
13: 98,773,569 (GRCm39) |
L87P |
probably damaging |
Het |
| Tmppe |
T |
A |
9: 114,233,769 (GRCm39) |
S23T |
probably damaging |
Het |
| Ttn |
G |
A |
2: 76,591,447 (GRCm39) |
T21074I |
probably benign |
Het |
| Tub |
A |
G |
7: 108,628,505 (GRCm39) |
M338V |
probably null |
Het |
| Vmn1r160 |
A |
T |
7: 22,571,531 (GRCm39) |
R295* |
probably null |
Het |
| Vps52 |
T |
C |
17: 34,182,180 (GRCm39) |
V518A |
probably benign |
Het |
| Wdr59 |
A |
G |
8: 112,177,675 (GRCm39) |
V909A |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,925,742 (GRCm39) |
T1241A |
probably benign |
Het |
| Zfp882 |
G |
A |
8: 72,668,130 (GRCm39) |
C319Y |
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 |
|
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 |
|
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'- GGATGATCCTGCTCCACAAG -3'
(R):5'- AGCACAACTTTCCTGAGCAG -3'
Sequencing Primer
(F):5'- ACCTTGGCAAGCATCTGCATG -3'
(R):5'- CTGAGCAGGAGATCCAAGAAGGC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation