Incidental Mutation 'R9448:Znfx1'
ID |
714047 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Znfx1
|
Ensembl Gene |
ENSMUSG00000039501 |
Gene Name |
zinc finger, NFX1-type containing 1 |
Synonyms |
|
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9448 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 166888844 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Proline
at position 788
(Q788P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049404
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000067584]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
AlphaFold |
Q8R151 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048988
AA Change: Q788P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000049404 Gene: ENSMUSG00000039501 AA Change: Q788P
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
|
SMART Domains |
Protein: ENSMUSP00000072867 Gene: ENSMUSG00000039501
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
AA Change: Q788P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000121598 Gene: ENSMUSG00000039501 AA Change: Q788P
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
AA Change: Q788P
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000121750 Gene: ENSMUSG00000039501 AA Change: Q788P
Domain | Start | End | E-Value | Type |
Pfam:AAA_11
|
590 |
854 |
1.7e-17 |
PFAM |
Pfam:AAA_19
|
597 |
684 |
3.6e-11 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2200002D01Rik |
CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC |
7: 28,947,048 (GRCm39) |
|
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,099,575 (GRCm39) |
V685A |
possibly damaging |
Het |
Atg9a |
G |
T |
1: 75,162,849 (GRCm39) |
T417K |
probably benign |
Het |
Atp6v1a |
T |
A |
16: 43,931,872 (GRCm39) |
K139* |
probably null |
Het |
Baz1b |
T |
C |
5: 135,239,656 (GRCm39) |
I252T |
probably damaging |
Het |
Ccdc191 |
T |
A |
16: 43,759,338 (GRCm39) |
W380R |
|
Het |
Cep290 |
T |
G |
10: 100,395,546 (GRCm39) |
V2118G |
probably benign |
Het |
Crb2 |
A |
G |
2: 37,677,773 (GRCm39) |
D352G |
probably benign |
Het |
Csmd3 |
T |
C |
15: 47,460,315 (GRCm39) |
D2581G |
|
Het |
Diras2 |
T |
A |
13: 52,662,122 (GRCm39) |
T62S |
possibly damaging |
Het |
Dmrt1 |
T |
C |
19: 25,523,255 (GRCm39) |
V202A |
possibly damaging |
Het |
Dok1 |
T |
C |
6: 83,009,972 (GRCm39) |
K46E |
probably damaging |
Het |
Dph7 |
A |
T |
2: 24,861,952 (GRCm39) |
K455M |
probably damaging |
Het |
Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
Ehbp1 |
T |
C |
11: 22,087,881 (GRCm39) |
N426S |
probably benign |
Het |
Exo5 |
A |
G |
4: 120,778,888 (GRCm39) |
W326R |
probably damaging |
Het |
Fam149a |
T |
A |
8: 45,792,411 (GRCm39) |
|
probably null |
Het |
Flii |
T |
C |
11: 60,606,393 (GRCm39) |
N1099S |
probably benign |
Het |
Flvcr1 |
T |
C |
1: 190,744,406 (GRCm39) |
T381A |
possibly damaging |
Het |
Foxl1 |
T |
C |
8: 121,855,608 (GRCm39) |
V303A |
probably benign |
Het |
Fsd1l |
G |
T |
4: 53,694,826 (GRCm39) |
E427* |
probably null |
Het |
Galnt18 |
A |
T |
7: 111,153,649 (GRCm39) |
I325N |
probably damaging |
Het |
Gm5478 |
T |
C |
15: 101,553,662 (GRCm39) |
N274S |
probably damaging |
Het |
Grm7 |
A |
T |
6: 111,335,193 (GRCm39) |
T535S |
probably benign |
Het |
Heatr5b |
T |
C |
17: 79,068,015 (GRCm39) |
D1791G |
probably benign |
Het |
Igkv12-98 |
T |
C |
6: 68,548,156 (GRCm39) |
I95T |
probably damaging |
Het |
Il1rl2 |
A |
G |
1: 40,366,604 (GRCm39) |
Y46C |
probably benign |
Het |
Inhca |
G |
T |
9: 103,149,781 (GRCm39) |
Q259K |
probably benign |
Het |
Kdr |
T |
C |
5: 76,102,569 (GRCm39) |
E1186G |
probably benign |
Het |
Knstrn |
T |
C |
2: 118,644,975 (GRCm39) |
|
probably null |
Het |
Krt9 |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC |
11: 100,079,903 (GRCm39) |
|
probably benign |
Het |
Ltbp1 |
C |
T |
17: 75,666,455 (GRCm39) |
Q1383* |
probably null |
Het |
Mep1a |
T |
C |
17: 43,805,869 (GRCm39) |
|
probably null |
Het |
Mep1b |
A |
G |
18: 21,217,199 (GRCm39) |
D106G |
probably damaging |
Het |
Moxd2 |
T |
C |
6: 40,864,160 (GRCm39) |
N90S |
probably benign |
Het |
Ms4a4c |
T |
A |
19: 11,392,317 (GRCm39) |
|
probably null |
Het |
Nlrp4e |
A |
T |
7: 23,000,956 (GRCm39) |
M84L |
probably benign |
Het |
Noc2l |
C |
A |
4: 156,320,781 (GRCm39) |
R66S |
probably benign |
Het |
Nox4 |
A |
T |
7: 87,045,001 (GRCm39) |
L580F |
unknown |
Het |
Numb |
A |
G |
12: 83,888,990 (GRCm39) |
|
probably null |
Het |
Or1l4 |
A |
G |
2: 37,091,221 (GRCm39) |
|
probably benign |
Het |
Or5w13 |
A |
T |
2: 87,523,824 (GRCm39) |
V134E |
probably damaging |
Het |
Parp8 |
T |
A |
13: 117,039,360 (GRCm39) |
K274* |
probably null |
Het |
Pcdh1 |
G |
A |
18: 38,330,492 (GRCm39) |
P976L |
probably damaging |
Het |
Pcnt |
T |
C |
10: 76,256,360 (GRCm39) |
K627E |
probably damaging |
Het |
Pdzk1 |
A |
T |
3: 96,761,922 (GRCm39) |
D178V |
probably damaging |
Het |
Phldb1 |
G |
T |
9: 44,622,546 (GRCm39) |
L36M |
possibly damaging |
Het |
Pip5k1c |
A |
G |
10: 81,141,645 (GRCm39) |
E111G |
probably damaging |
Het |
Plcb4 |
G |
A |
2: 135,752,045 (GRCm39) |
E84K |
possibly damaging |
Het |
Prpf39 |
T |
A |
12: 65,108,034 (GRCm39) |
Y646N |
probably benign |
Het |
Psmc6 |
T |
C |
14: 45,568,483 (GRCm39) |
F69L |
probably benign |
Het |
Ptk2 |
T |
A |
15: 73,215,041 (GRCm39) |
S46C |
possibly damaging |
Het |
Ptpn6 |
G |
A |
6: 124,709,771 (GRCm39) |
R23W |
probably damaging |
Het |
Ptprb |
T |
A |
10: 116,149,819 (GRCm39) |
Y143* |
probably null |
Het |
Qrich2 |
T |
C |
11: 116,338,091 (GRCm39) |
E141G |
probably benign |
Het |
Rsf1 |
G |
GCCGGCGGCT |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Scn5a |
A |
G |
9: 119,381,127 (GRCm39) |
L136P |
probably damaging |
Het |
Slc12a6 |
T |
C |
2: 112,179,704 (GRCm39) |
F676S |
probably damaging |
Het |
Spata31f1a |
A |
T |
4: 42,850,250 (GRCm39) |
Y635* |
probably null |
Het |
Spata31f1e |
T |
C |
4: 42,793,440 (GRCm39) |
R231G |
probably benign |
Het |
Spata32 |
C |
T |
11: 103,099,648 (GRCm39) |
G286R |
probably damaging |
Het |
Tbx19 |
T |
C |
1: 164,981,090 (GRCm39) |
K135E |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,936,567 (GRCm39) |
T1494A |
probably benign |
Het |
Tmem62 |
A |
C |
2: 120,808,211 (GRCm39) |
D71A |
probably damaging |
Het |
Tnfsf15 |
A |
T |
4: 63,663,305 (GRCm39) |
V6D |
possibly damaging |
Het |
Tulp4 |
T |
C |
17: 6,248,948 (GRCm39) |
V182A |
possibly damaging |
Het |
Vmn2r73 |
A |
T |
7: 85,522,027 (GRCm39) |
V104D |
probably benign |
Het |
Zdhhc8 |
C |
A |
16: 18,039,558 (GRCm39) |
G159C |
|
Het |
Zfy2 |
A |
G |
Y: 2,109,904 (GRCm39) |
W338R |
probably damaging |
Het |
Zscan26 |
A |
G |
13: 21,632,431 (GRCm39) |
V100A |
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 |
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 |
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'- ATTGTGCCCATCAGTCTGG -3'
(R):5'- CTCTTGAGATTTACCCTCAGGAAAG -3'
Sequencing Primer
(F):5'- CATCAGTCTGGGCCTTGCTG -3'
(R):5'- ATCTCATAGATGGTTGTGAGCCACC -3'
|
Posted On |
2022-06-15 |