Incidental Mutation 'R7732:Znfx1'
ID |
595887 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znfx1
|
Ensembl Gene |
ENSMUSG00000039501 |
Gene Name |
zinc finger, NFX1-type containing 1 |
Synonyms |
|
MMRRC Submission |
045788-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7732 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 166884589 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 888
(K888E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000067584]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
AlphaFold |
Q8R151 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048988
AA Change: K888E
PolyPhen 2
Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000049404 Gene: ENSMUSG00000039501 AA Change: K888E
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: K24E
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000072867 Gene: ENSMUSG00000039501 AA Change: K24E
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 |
probably benign
Transcript: ENSMUST00000128676
|
SMART Domains |
Protein: ENSMUSP00000121598 Gene: ENSMUSG00000039501
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 |
probably benign
Transcript: ENSMUST00000155281
|
SMART Domains |
Protein: ENSMUSP00000121750 Gene: ENSMUSG00000039501
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 |
0.0962 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (73/73) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
A |
T |
15: 91,075,451 (GRCm39) |
S121T |
possibly damaging |
Het |
Alpk1 |
T |
C |
3: 127,478,041 (GRCm39) |
M69V |
|
Het |
Ap3m2 |
G |
T |
8: 23,287,105 (GRCm39) |
D192E |
probably benign |
Het |
Arel1 |
A |
G |
12: 84,974,663 (GRCm39) |
V493A |
probably benign |
Het |
Arhgap27 |
T |
C |
11: 103,230,869 (GRCm39) |
H140R |
probably benign |
Het |
Bcat2 |
C |
T |
7: 45,234,617 (GRCm39) |
T166M |
possibly damaging |
Het |
Brd4 |
C |
A |
17: 32,440,386 (GRCm39) |
A318S |
unknown |
Het |
Cabp4 |
T |
A |
19: 4,185,994 (GRCm39) |
T270S |
probably benign |
Het |
Cd22 |
G |
A |
7: 30,569,482 (GRCm39) |
R545C |
probably damaging |
Het |
Cdc23 |
C |
A |
18: 34,769,755 (GRCm39) |
|
probably null |
Het |
Chst4 |
G |
A |
8: 110,756,514 (GRCm39) |
Q450* |
probably null |
Het |
Ctsc |
G |
A |
7: 87,946,367 (GRCm39) |
R132Q |
probably damaging |
Het |
Cyp2b19 |
A |
G |
7: 26,470,769 (GRCm39) |
D470G |
possibly damaging |
Het |
Dcc |
C |
T |
18: 71,579,506 (GRCm39) |
G689D |
probably benign |
Het |
Disc1 |
G |
T |
8: 125,977,714 (GRCm39) |
G779* |
probably null |
Het |
Dock1 |
T |
G |
7: 134,346,699 (GRCm39) |
D210E |
probably benign |
Het |
Dynlt1a |
A |
G |
17: 6,365,220 (GRCm39) |
V14A |
probably benign |
Het |
Dynlt2a3 |
A |
G |
17: 15,187,947 (GRCm39) |
V109A |
probably benign |
Het |
Epha10 |
A |
G |
4: 124,809,092 (GRCm39) |
D779G |
|
Het |
Eprs1 |
A |
G |
1: 185,105,136 (GRCm39) |
H137R |
probably benign |
Het |
Eps15l1 |
A |
C |
8: 73,134,820 (GRCm39) |
L447R |
probably damaging |
Het |
Esyt1 |
A |
G |
10: 128,357,694 (GRCm39) |
|
probably null |
Het |
Fam221a |
A |
G |
6: 49,349,563 (GRCm39) |
K43E |
probably benign |
Het |
Fanci |
A |
G |
7: 79,062,400 (GRCm39) |
S309G |
possibly damaging |
Het |
Fbxo48 |
T |
A |
11: 16,903,601 (GRCm39) |
W76R |
probably damaging |
Het |
Fgd4 |
A |
G |
16: 16,302,459 (GRCm39) |
V32A |
probably benign |
Het |
Foxe1 |
A |
T |
4: 46,345,287 (GRCm39) |
D365V |
unknown |
Het |
Gabrd |
C |
T |
4: 155,470,075 (GRCm39) |
R378H |
probably benign |
Het |
Greb1 |
A |
G |
12: 16,723,864 (GRCm39) |
S1862P |
probably damaging |
Het |
H2al2b |
T |
C |
Y: 2,720,436 (GRCm39) |
H80R |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,474,692 (GRCm39) |
V2771A |
probably benign |
Het |
Hoxa11 |
A |
T |
6: 52,220,415 (GRCm39) |
F289L |
probably damaging |
Het |
Hsp90aa1 |
A |
G |
12: 110,659,852 (GRCm39) |
V412A |
probably damaging |
Het |
Igsf11 |
A |
G |
16: 38,829,160 (GRCm39) |
Q77R |
probably damaging |
Het |
Lrig1 |
C |
A |
6: 94,603,358 (GRCm39) |
M263I |
probably benign |
Het |
Ms4a14 |
C |
T |
19: 11,279,047 (GRCm39) |
M1170I |
probably benign |
Het |
Ndufs7 |
G |
A |
10: 80,089,618 (GRCm39) |
|
probably null |
Het |
Nectin4 |
A |
T |
1: 171,214,246 (GRCm39) |
E467V |
probably benign |
Het |
Or8d1b |
A |
G |
9: 38,887,560 (GRCm39) |
E196G |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,642,525 (GRCm39) |
H1302Y |
probably benign |
Het |
Pigg |
A |
G |
5: 108,466,841 (GRCm39) |
S241G |
probably benign |
Het |
Pip4p1 |
C |
T |
14: 51,168,090 (GRCm39) |
G48D |
possibly damaging |
Het |
Pom121l12 |
T |
A |
11: 14,549,843 (GRCm39) |
V183D |
probably damaging |
Het |
Prickle2 |
T |
A |
6: 92,388,205 (GRCm39) |
E455V |
probably damaging |
Het |
Ptpn4 |
A |
C |
1: 119,620,532 (GRCm39) |
V488G |
probably benign |
Het |
Ranbp10 |
A |
G |
8: 106,499,723 (GRCm39) |
I502T |
probably benign |
Het |
Raph1 |
T |
A |
1: 60,572,447 (GRCm39) |
Q40L |
possibly damaging |
Het |
Rgs22 |
A |
T |
15: 36,026,127 (GRCm39) |
C1056S |
probably damaging |
Het |
Serpinb6b |
G |
A |
13: 33,152,590 (GRCm39) |
S33N |
probably damaging |
Het |
Serpinb6d |
A |
G |
13: 33,853,082 (GRCm39) |
N158S |
probably benign |
Het |
Serping1 |
A |
T |
2: 84,600,448 (GRCm39) |
V298D |
probably damaging |
Het |
Sgsm1 |
T |
A |
5: 113,414,196 (GRCm39) |
H637L |
probably benign |
Het |
Sh3rf2 |
G |
T |
18: 42,234,753 (GRCm39) |
V179L |
probably damaging |
Het |
Slc1a3 |
T |
C |
15: 8,680,472 (GRCm39) |
T129A |
probably benign |
Het |
Slit1 |
T |
A |
19: 41,592,847 (GRCm39) |
Y1202F |
probably benign |
Het |
Spsb2 |
T |
C |
6: 124,786,656 (GRCm39) |
S130P |
probably damaging |
Het |
Sulf1 |
A |
G |
1: 12,913,013 (GRCm39) |
D749G |
probably benign |
Het |
Taok3 |
A |
G |
5: 117,331,813 (GRCm39) |
E10G |
possibly damaging |
Het |
Tbl3 |
G |
T |
17: 24,923,136 (GRCm39) |
A368D |
probably benign |
Het |
Tdh |
T |
A |
14: 63,733,507 (GRCm39) |
H127L |
probably damaging |
Het |
Tmem205 |
C |
A |
9: 21,838,703 (GRCm39) |
|
probably null |
Het |
Tmem30a |
A |
C |
9: 79,687,826 (GRCm39) |
F114L |
possibly damaging |
Het |
Tmprss15 |
T |
C |
16: 78,800,308 (GRCm39) |
K607E |
probably benign |
Het |
Tnxb |
A |
T |
17: 34,913,254 (GRCm39) |
D1756V |
probably damaging |
Het |
Trhde |
A |
G |
10: 114,623,969 (GRCm39) |
F312L |
probably benign |
Het |
Ttn |
G |
A |
2: 76,656,793 (GRCm39) |
P12494L |
probably null |
Het |
Vmn2r61 |
A |
G |
7: 41,916,097 (GRCm39) |
R237G |
probably benign |
Het |
Vps13c |
A |
T |
9: 67,847,798 (GRCm39) |
N2187Y |
probably damaging |
Het |
Wdr64 |
A |
G |
1: 175,617,495 (GRCm39) |
T692A |
probably benign |
Het |
Whamm |
A |
G |
7: 81,221,172 (GRCm39) |
N35D |
probably damaging |
Het |
Wnt2 |
T |
C |
6: 18,023,335 (GRCm39) |
S105G |
probably damaging |
Het |
Zfp108 |
T |
A |
7: 23,960,952 (GRCm39) |
H514Q |
probably benign |
Het |
Zftraf1 |
C |
T |
15: 76,532,386 (GRCm39) |
D241N |
probably benign |
Het |
Zzz3 |
T |
C |
3: 152,154,479 (GRCm39) |
Y577H |
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 |
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 |
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'- TGCCCAATCTGACCCATCCTAG -3'
(R):5'- ACCCTAGGTCACATCACTTGAG -3'
Sequencing Primer
(F):5'- CTAGGGACCAGACAGAATTCCATG -3'
(R):5'- CTAGGTCACATCACTTGAGAAGAGTC -3'
|
Posted On |
2019-11-12 |