Incidental Mutation 'R9163:Znfx1'
| ID |
695822 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
068975-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9163 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166898261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 221
(M221K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048988
AA Change: M221K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: M221K
| 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 damaging
Transcript: ENSMUST00000128676
AA Change: M221K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: M221K
| 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 damaging
Transcript: ENSMUST00000155281
AA Change: M221K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: M221K
| 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 |
0.3536 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
C |
13: 77,393,400 (GRCm39) |
S351P |
possibly damaging |
Het |
| 4930558K02Rik |
A |
G |
1: 161,777,174 (GRCm39) |
S128P |
probably benign |
Het |
| Adam17 |
C |
T |
12: 21,401,588 (GRCm39) |
V136I |
probably benign |
Het |
| Adam19 |
A |
G |
11: 46,018,176 (GRCm39) |
T413A |
probably benign |
Het |
| Adam28 |
T |
C |
14: 68,866,531 (GRCm39) |
K443E |
probably damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,567,541 (GRCm39) |
T5211S |
probably benign |
Het |
| Adnp2 |
A |
T |
18: 80,172,200 (GRCm39) |
N736K |
possibly damaging |
Het |
| Agtpbp1 |
C |
T |
13: 59,609,884 (GRCm39) |
W1082* |
probably null |
Het |
| Ap3b2 |
T |
G |
7: 81,113,546 (GRCm39) |
M888L |
unknown |
Het |
| Arhgap35 |
C |
A |
7: 16,295,549 (GRCm39) |
R1172L |
possibly damaging |
Het |
| Arrdc3 |
T |
A |
13: 81,041,506 (GRCm39) |
D402E |
probably benign |
Het |
| Ccdc14 |
T |
C |
16: 34,511,118 (GRCm39) |
F31L |
possibly damaging |
Het |
| Cd5l |
T |
G |
3: 87,274,932 (GRCm39) |
L157R |
probably benign |
Het |
| Cdc14a |
G |
T |
3: 116,122,213 (GRCm39) |
D251E |
possibly damaging |
Het |
| Cfap210 |
A |
T |
2: 69,606,510 (GRCm39) |
I302K |
probably benign |
Het |
| Chmp2a |
T |
A |
7: 12,766,645 (GRCm39) |
Q91L |
possibly damaging |
Het |
| Col12a1 |
A |
G |
9: 79,548,729 (GRCm39) |
|
probably null |
Het |
| Ctdsp1 |
G |
T |
1: 74,434,126 (GRCm39) |
R201L |
possibly damaging |
Het |
| Dhx15 |
C |
T |
5: 52,342,198 (GRCm39) |
R40H |
probably damaging |
Het |
| Dnph1 |
A |
G |
17: 46,809,860 (GRCm39) |
Y134C |
probably damaging |
Het |
| Foxo1 |
T |
A |
3: 52,253,301 (GRCm39) |
V488D |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,742,944 (GRCm39) |
N1538K |
probably benign |
Het |
| Gldc |
T |
A |
19: 30,111,686 (GRCm39) |
E500V |
probably benign |
Het |
| Hhip |
G |
A |
8: 80,701,743 (GRCm39) |
T597I |
probably benign |
Het |
| Hmgn1 |
A |
G |
16: 95,928,509 (GRCm39) |
|
probably null |
Het |
| Ifi205 |
A |
T |
1: 173,844,988 (GRCm39) |
S265T |
possibly damaging |
Het |
| Igkv1-131 |
T |
C |
6: 67,743,753 (GRCm39) |
M2V |
probably benign |
Het |
| Irgm2 |
T |
G |
11: 58,111,280 (GRCm39) |
S324A |
probably damaging |
Het |
| Jarid2 |
C |
G |
13: 45,064,727 (GRCm39) |
D937E |
possibly damaging |
Het |
| Jrkl |
A |
T |
9: 13,245,404 (GRCm39) |
W86R |
probably damaging |
Het |
| Kbtbd3 |
A |
G |
9: 4,330,584 (GRCm39) |
I319M |
probably benign |
Het |
| Klhl7 |
T |
C |
5: 24,364,465 (GRCm39) |
Y500H |
probably damaging |
Het |
| Lats1 |
C |
T |
10: 7,578,052 (GRCm39) |
A392V |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,600,402 (GRCm39) |
A584S |
probably benign |
Het |
| Macf1 |
G |
T |
4: 123,403,686 (GRCm39) |
S560Y |
probably damaging |
Het |
| Or4c11 |
C |
T |
2: 88,695,795 (GRCm39) |
P282L |
possibly damaging |
Het |
| Or8c10 |
T |
A |
9: 38,279,378 (GRCm39) |
C169S |
probably damaging |
Het |
| Pde10a |
G |
A |
17: 9,181,791 (GRCm39) |
C498Y |
possibly damaging |
Het |
| Pde4dip |
A |
G |
3: 97,659,123 (GRCm39) |
|
probably null |
Het |
| Pdhx |
G |
A |
2: 102,852,561 (GRCm39) |
P434L |
probably damaging |
Het |
| Pdlim3 |
T |
C |
8: 46,338,711 (GRCm39) |
|
probably null |
Het |
| Pik3c3 |
T |
C |
18: 30,427,483 (GRCm39) |
|
probably null |
Het |
| Prkag1 |
T |
C |
15: 98,711,900 (GRCm39) |
K242R |
possibly damaging |
Het |
| Rap1b |
A |
G |
10: 117,654,391 (GRCm39) |
S150P |
possibly damaging |
Het |
| Scn4a |
A |
G |
11: 106,217,076 (GRCm39) |
S1102P |
probably damaging |
Het |
| Scrib |
A |
G |
15: 75,921,108 (GRCm39) |
Y1332H |
probably damaging |
Het |
| Sim1 |
A |
G |
10: 50,772,165 (GRCm39) |
E58G |
probably benign |
Het |
| Slc13a1 |
C |
T |
6: 24,097,578 (GRCm39) |
|
probably null |
Het |
| Slc17a8 |
A |
G |
10: 89,425,444 (GRCm39) |
V380A |
probably damaging |
Het |
| Slc5a4b |
G |
T |
10: 75,917,165 (GRCm39) |
Y290* |
probably null |
Het |
| Slco4c1 |
A |
G |
1: 96,764,633 (GRCm39) |
F480L |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,121,162 (GRCm39) |
V146A |
unknown |
Het |
| Ssc5d |
T |
A |
7: 4,936,432 (GRCm39) |
D559E |
probably damaging |
Het |
| Sstr5 |
A |
C |
17: 25,710,584 (GRCm39) |
I215S |
probably damaging |
Het |
| Stambpl1 |
G |
A |
19: 34,212,634 (GRCm39) |
C268Y |
probably benign |
Het |
| Stard3nl |
C |
A |
13: 19,560,809 (GRCm39) |
|
probably benign |
Het |
| Sycp3 |
T |
C |
10: 88,299,734 (GRCm39) |
|
probably null |
Het |
| Syne2 |
A |
T |
12: 76,009,349 (GRCm39) |
M2417L |
possibly damaging |
Het |
| Tenm4 |
T |
G |
7: 96,473,080 (GRCm39) |
Y959D |
probably damaging |
Het |
| Tmem132d |
T |
A |
5: 127,869,570 (GRCm39) |
D588V |
possibly damaging |
Het |
| Tnfrsf26 |
T |
C |
7: 143,172,130 (GRCm39) |
E60G |
possibly damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,767 (GRCm39) |
R802G |
probably benign |
Het |
| Trmu |
T |
C |
15: 85,781,096 (GRCm39) |
V360A |
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,562 (GRCm39) |
C386Y |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,700,771 (GRCm39) |
D61E |
|
Het |
| Upf1 |
T |
C |
8: 70,792,674 (GRCm39) |
T345A |
probably benign |
Het |
| Vmn2r23 |
T |
A |
6: 123,718,782 (GRCm39) |
C712S |
probably damaging |
Het |
| Vmn2r44 |
C |
T |
7: 8,371,091 (GRCm39) |
V652I |
probably benign |
Het |
| Wfdc1 |
T |
C |
8: 120,393,302 (GRCm39) |
V8A |
probably benign |
Het |
| Xrn1 |
A |
G |
9: 95,880,274 (GRCm39) |
Y738C |
probably benign |
Het |
| Zfp618 |
T |
G |
4: 63,051,511 (GRCm39) |
V764G |
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 |
|
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 |
|
|
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'- TATGTCAACCCCAGAGGCTCTC -3'
(R):5'- TACAAGTTCCTGGAGAGCCTC -3'
Sequencing Primer
(F):5'- CTCTCAAAGCATTAAGAGAAGTCGGC -3'
(R):5'- CTAGGGCTCAAGGAACTGCTTTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation