Incidental Mutation 'R1541:Znfx1'
| ID |
171708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
039580-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1541 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166898110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 271
(N271K)
|
| 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: N271K
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: N271K
| 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: ENSMUST00000128676
AA Change: N271K
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: N271K
| 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 |
possibly damaging
Transcript: ENSMUST00000155281
AA Change: N271K
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: N271K
| 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: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
A |
G |
14: 103,286,769 (GRCm39) |
D24G |
probably damaging |
Het |
| Angptl2 |
G |
A |
2: 33,136,177 (GRCm39) |
R454H |
probably benign |
Het |
| Atat1 |
T |
A |
17: 36,215,223 (GRCm39) |
N181I |
probably damaging |
Het |
| Atp6v0d2 |
A |
C |
4: 19,910,645 (GRCm39) |
F82V |
probably damaging |
Het |
| Calhm4 |
T |
C |
10: 33,917,659 (GRCm39) |
H264R |
probably benign |
Het |
| Casp3 |
A |
G |
8: 47,087,369 (GRCm39) |
I105M |
probably benign |
Het |
| Ccdc33 |
T |
A |
9: 58,024,749 (GRCm39) |
D159V |
probably damaging |
Het |
| Cd163 |
A |
C |
6: 124,304,920 (GRCm39) |
D1099A |
probably benign |
Het |
| Cep128 |
A |
T |
12: 91,315,555 (GRCm39) |
S110R |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,752,291 (GRCm39) |
|
probably null |
Het |
| Cfap58 |
T |
C |
19: 47,971,969 (GRCm39) |
I633T |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,814 (GRCm39) |
H86R |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,565 (GRCm39) |
K48R |
probably benign |
Het |
| Crip2 |
T |
C |
12: 113,108,586 (GRCm39) |
V64A |
possibly damaging |
Het |
| Cstdc5 |
T |
A |
16: 36,187,863 (GRCm39) |
M1L |
probably damaging |
Het |
| Cwf19l2 |
T |
A |
9: 3,456,760 (GRCm39) |
S698T |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,214,771 (GRCm39) |
I933V |
probably benign |
Het |
| Dnah8 |
C |
A |
17: 30,966,221 (GRCm39) |
N2470K |
probably damaging |
Het |
| Dstn |
T |
C |
2: 143,780,408 (GRCm39) |
V36A |
possibly damaging |
Het |
| Dtx1 |
T |
A |
5: 120,848,411 (GRCm39) |
|
probably benign |
Het |
| Dzip1 |
G |
A |
14: 119,116,890 (GRCm39) |
S782L |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,675,971 (GRCm39) |
|
probably null |
Het |
| Erich1 |
A |
G |
8: 14,080,688 (GRCm39) |
I277T |
probably damaging |
Het |
| Gbp4 |
T |
A |
5: 105,266,275 (GRCm39) |
M589L |
probably benign |
Het |
| Grip1 |
T |
C |
10: 119,836,448 (GRCm39) |
I440T |
probably damaging |
Het |
| Helz |
C |
T |
11: 107,560,874 (GRCm39) |
S1311L |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,785,405 (GRCm39) |
I1552F |
probably damaging |
Het |
| Kif13a |
T |
C |
13: 46,962,689 (GRCm39) |
T459A |
probably benign |
Het |
| Knop1 |
G |
A |
7: 118,455,009 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
C |
A |
11: 115,743,947 (GRCm39) |
T758K |
probably benign |
Het |
| Lonrf2 |
G |
A |
1: 38,852,357 (GRCm39) |
P165S |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,649,148 (GRCm39) |
D340G |
possibly damaging |
Het |
| Luzp1 |
A |
G |
4: 136,270,636 (GRCm39) |
D953G |
probably damaging |
Het |
| Mst1r |
T |
C |
9: 107,794,562 (GRCm39) |
V1247A |
probably damaging |
Het |
| Ncoa4 |
A |
T |
14: 31,898,845 (GRCm39) |
K555M |
probably damaging |
Het |
| Ncoa6 |
A |
T |
2: 155,257,224 (GRCm39) |
L773Q |
probably benign |
Het |
| Ndc1 |
C |
T |
4: 107,228,485 (GRCm39) |
Q70* |
probably null |
Het |
| Nfe2l3 |
C |
T |
6: 51,434,585 (GRCm39) |
L382F |
probably damaging |
Het |
| Nlrp4b |
C |
A |
7: 10,458,979 (GRCm39) |
T399N |
possibly damaging |
Het |
| Nsmce2 |
T |
A |
15: 59,473,234 (GRCm39) |
D250E |
probably damaging |
Het |
| Nudt14 |
A |
T |
12: 112,898,548 (GRCm39) |
L184Q |
probably damaging |
Het |
| Ogdhl |
G |
A |
14: 32,062,624 (GRCm39) |
R570H |
possibly damaging |
Het |
| Or5p56 |
T |
C |
7: 107,590,048 (GRCm39) |
F159L |
probably benign |
Het |
| Pira13 |
T |
C |
7: 3,819,988 (GRCm39) |
D525G |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,904,085 (GRCm39) |
S369P |
probably benign |
Het |
| Ranbp2 |
A |
T |
10: 58,318,916 (GRCm39) |
T2476S |
possibly damaging |
Het |
| Rnmt |
T |
C |
18: 68,440,853 (GRCm39) |
L172P |
probably damaging |
Het |
| Sec24a |
T |
A |
11: 51,634,623 (GRCm39) |
H101L |
probably benign |
Het |
| Sirpd |
T |
A |
3: 15,385,744 (GRCm39) |
T53S |
possibly damaging |
Het |
| Srm |
A |
G |
4: 148,677,881 (GRCm39) |
D173G |
probably damaging |
Het |
| Srp54b |
A |
G |
12: 55,302,844 (GRCm39) |
D380G |
probably benign |
Het |
| Svs5 |
C |
T |
2: 164,078,929 (GRCm39) |
R326Q |
possibly damaging |
Het |
| Tent4b |
T |
C |
8: 88,972,227 (GRCm39) |
V222A |
probably damaging |
Het |
| Tfap2b |
C |
T |
1: 19,304,294 (GRCm39) |
T350M |
probably damaging |
Het |
| Tie1 |
A |
T |
4: 118,341,070 (GRCm39) |
C304S |
probably damaging |
Het |
| Tsc2 |
G |
T |
17: 24,850,950 (GRCm39) |
T36N |
probably damaging |
Het |
| Wdhd1 |
A |
T |
14: 47,505,649 (GRCm39) |
Y274* |
probably null |
Het |
| Wdr37 |
T |
C |
13: 8,870,574 (GRCm39) |
T373A |
probably benign |
Het |
| Xirp2 |
A |
T |
2: 67,342,634 (GRCm39) |
N1625I |
possibly damaging |
Het |
| Ythdf1 |
A |
C |
2: 180,560,936 (GRCm39) |
S35A |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,008,928 (GRCm39) |
N298S |
possibly damaging |
Het |
| Zfp541 |
T |
A |
7: 15,812,437 (GRCm39) |
D363E |
probably benign |
Het |
| Zgpat |
A |
G |
2: 181,020,658 (GRCm39) |
D277G |
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 |
|
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'- GACAGCAGTGCTCTCGTATTTCCC -3'
(R):5'- GGCATCCTGAACAACTCCAAGTTCC -3'
Sequencing Primer
(F):5'- CGAAGGAAGGGCTTCTCATC -3'
(R):5'- GAGTCTGCCTGCCAGCTTAC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation