Incidental Mutation 'R1104:Znfx1'
| ID |
98332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
039177-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1104 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 166897560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 455
(E455*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048988
AA Change: E455*
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: E455*
| 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 null
Transcript: ENSMUST00000128676
AA Change: E455*
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: E455*
| 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 |
noncoding transcript
Transcript: ENSMUST00000135967
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000155281
AA Change: E455*
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: E455*
| 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 |
0.9756 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
99% (70/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| 4930550C14Rik |
A |
G |
9: 53,332,917 (GRCm39) |
I93V |
probably benign |
Het |
| Abcg5 |
A |
C |
17: 84,989,477 (GRCm39) |
I77S |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,171,545 (GRCm39) |
Y762C |
probably benign |
Het |
| Agap1 |
T |
C |
1: 89,716,962 (GRCm39) |
S26P |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,347,426 (GRCm39) |
Y441C |
probably damaging |
Het |
| B3gnt3 |
A |
G |
8: 72,146,481 (GRCm39) |
L16S |
possibly damaging |
Het |
| Btaf1 |
T |
A |
19: 36,982,002 (GRCm39) |
D1677E |
probably damaging |
Het |
| Cd5l |
T |
A |
3: 87,268,206 (GRCm39) |
S18T |
probably benign |
Het |
| Cdca2 |
T |
A |
14: 67,931,131 (GRCm39) |
R521W |
probably damaging |
Het |
| Cfap61 |
C |
A |
2: 145,792,981 (GRCm39) |
S64* |
probably null |
Het |
| Cryzl2 |
T |
A |
1: 157,298,174 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dhrs1 |
T |
C |
14: 55,981,162 (GRCm39) |
K83E |
probably benign |
Het |
| Dmrt2 |
T |
A |
19: 25,655,980 (GRCm39) |
F526L |
probably benign |
Het |
| Dnajb14 |
T |
A |
3: 137,614,115 (GRCm39) |
M342K |
possibly damaging |
Het |
| Dpf3 |
A |
G |
12: 83,378,761 (GRCm39) |
V101A |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,979,302 (GRCm39) |
T321P |
probably damaging |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
G |
A |
5: 96,856,530 (GRCm39) |
R1971Q |
probably benign |
Het |
| Fry |
A |
G |
5: 150,419,754 (GRCm39) |
N608S |
probably damaging |
Het |
| Gabrr3 |
T |
A |
16: 59,281,998 (GRCm39) |
V451D |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,924,235 (GRCm39) |
L251P |
probably benign |
Het |
| Gli2 |
T |
A |
1: 118,781,080 (GRCm39) |
S222C |
probably damaging |
Het |
| Gsr |
A |
G |
8: 34,159,949 (GRCm39) |
E99G |
probably damaging |
Het |
| H1f5 |
T |
C |
13: 21,964,451 (GRCm39) |
T92A |
possibly damaging |
Het |
| Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
| Hus1b |
T |
C |
13: 31,131,679 (GRCm39) |
|
probably benign |
Het |
| Igf1r |
T |
A |
7: 67,844,774 (GRCm39) |
I849N |
possibly damaging |
Het |
| Itih5 |
A |
G |
2: 10,256,323 (GRCm39) |
T930A |
probably benign |
Het |
| Ivns1abp |
T |
A |
1: 151,235,860 (GRCm39) |
M309K |
probably benign |
Het |
| Kdm3b |
T |
A |
18: 34,952,864 (GRCm39) |
F1078Y |
probably damaging |
Het |
| Krt12 |
C |
A |
11: 99,312,792 (GRCm39) |
G84V |
unknown |
Het |
| Krt40 |
T |
G |
11: 99,431,059 (GRCm39) |
E150A |
probably damaging |
Het |
| Lcn11 |
G |
T |
2: 25,669,115 (GRCm39) |
|
probably benign |
Het |
| Lcor |
G |
T |
19: 41,574,502 (GRCm39) |
G1086C |
probably damaging |
Het |
| Liph |
A |
G |
16: 21,802,898 (GRCm39) |
I57T |
possibly damaging |
Het |
| Lrrc46 |
C |
T |
11: 96,926,997 (GRCm39) |
V107M |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 56,004,832 (GRCm39) |
I45T |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,841,554 (GRCm39) |
|
probably benign |
Het |
| Mark3 |
C |
T |
12: 111,584,831 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
C |
T |
6: 122,036,014 (GRCm39) |
A642V |
probably benign |
Het |
| Myh11 |
A |
G |
16: 14,019,991 (GRCm39) |
S1814P |
possibly damaging |
Het |
| Ndst1 |
T |
A |
18: 60,830,218 (GRCm39) |
S631C |
probably damaging |
Het |
| Nrbf2 |
A |
T |
10: 67,103,691 (GRCm39) |
D137E |
possibly damaging |
Het |
| Or2ag16 |
A |
T |
7: 106,351,989 (GRCm39) |
M202K |
probably benign |
Het |
| Or51l4 |
A |
G |
7: 103,404,183 (GRCm39) |
V203A |
probably benign |
Het |
| Or6c208 |
T |
A |
10: 129,224,090 (GRCm39) |
M196K |
probably benign |
Het |
| Parn |
A |
G |
16: 13,485,449 (GRCm39) |
Y16H |
probably damaging |
Het |
| Parp14 |
A |
G |
16: 35,664,785 (GRCm39) |
|
probably benign |
Het |
| Prl3d1 |
C |
T |
13: 27,283,992 (GRCm39) |
T187I |
probably benign |
Het |
| Ptgir |
G |
A |
7: 16,641,055 (GRCm39) |
|
probably null |
Het |
| Rabgap1l |
C |
T |
1: 160,059,445 (GRCm39) |
|
probably benign |
Het |
| Rims4 |
C |
T |
2: 163,705,849 (GRCm39) |
V262M |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,368,055 (GRCm39) |
Y4697H |
probably benign |
Het |
| Rps6ka4 |
T |
A |
19: 6,808,364 (GRCm39) |
I598F |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,684,855 (GRCm39) |
V3029M |
probably damaging |
Het |
| Slc34a1 |
T |
C |
13: 24,003,920 (GRCm39) |
F335S |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,945,032 (GRCm39) |
M1V |
probably null |
Het |
| Stau2 |
A |
T |
1: 16,510,585 (GRCm39) |
Y124* |
probably null |
Het |
| Tbl3 |
A |
G |
17: 24,920,580 (GRCm39) |
I652T |
probably benign |
Het |
| Trappc3 |
C |
T |
4: 126,166,759 (GRCm39) |
|
probably benign |
Het |
| Trim60 |
A |
T |
8: 65,454,071 (GRCm39) |
F59L |
probably benign |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,453 (GRCm39) |
F4686S |
probably benign |
Het |
| Vcan |
T |
C |
13: 89,840,529 (GRCm39) |
T1672A |
probably damaging |
Het |
| Vmn1r215 |
T |
A |
13: 23,260,758 (GRCm39) |
I266N |
possibly damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,487 (GRCm39) |
V657E |
possibly damaging |
Het |
| Wdr95 |
G |
T |
5: 149,529,802 (GRCm39) |
A548S |
probably benign |
Het |
| Zfp12 |
A |
G |
5: 143,231,500 (GRCm39) |
Y609C |
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 |
|
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 |
|
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'- TCCTCACATAGGAGTCACACTGCAC -3'
(R):5'- TTTGACGCTAGGATCATCACCCCG -3'
Sequencing Primer
(F):5'- TGCACAATGTTCCTCTGGAAG -3'
(R):5'- TAGGATCATCACCCCGATGTG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation