Incidental Mutation 'R0650:Znfx1'
| ID |
62188 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
038835-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0650 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 166889574 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 723
(Q723*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000067584]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048988
AA Change: Q723*
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: Q723*
| 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 null
Transcript: ENSMUST00000128676
AA Change: Q723*
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: Q723*
| 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: Q723*
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: Q723*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.0%
|
| Validation Efficiency |
99% (77/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N15Rik |
A |
G |
X: 68,989,391 (GRCm39) |
S96G |
unknown |
Het |
| 4930447C04Rik |
T |
C |
12: 72,956,830 (GRCm39) |
D120G |
probably damaging |
Het |
| Actmap |
A |
T |
7: 26,902,072 (GRCm39) |
H233L |
probably damaging |
Het |
| Adgrg5 |
T |
A |
8: 95,660,785 (GRCm39) |
|
probably null |
Het |
| Afg3l2 |
G |
T |
18: 67,548,627 (GRCm39) |
H534Q |
possibly damaging |
Het |
| Ankar |
G |
A |
1: 72,695,380 (GRCm39) |
|
probably benign |
Het |
| Arid2 |
T |
A |
15: 96,299,930 (GRCm39) |
F1814L |
possibly damaging |
Het |
| Asb15 |
C |
T |
6: 24,566,163 (GRCm39) |
A372V |
probably damaging |
Het |
| Atg16l1 |
A |
T |
1: 87,709,421 (GRCm39) |
D403V |
possibly damaging |
Het |
| Bnc2 |
T |
C |
4: 84,211,433 (GRCm39) |
D407G |
probably benign |
Het |
| Ccdc121 |
T |
C |
5: 31,643,312 (GRCm39) |
|
probably benign |
Het |
| Cdan1 |
A |
G |
2: 120,556,526 (GRCm39) |
V633A |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,185,571 (GRCm39) |
Y2482C |
unknown |
Het |
| Chd8 |
T |
C |
14: 52,439,761 (GRCm39) |
E964G |
probably benign |
Het |
| Cyp2s1 |
A |
G |
7: 25,508,683 (GRCm39) |
V253A |
probably damaging |
Het |
| Depdc1b |
A |
G |
13: 108,460,443 (GRCm39) |
N18D |
probably damaging |
Het |
| Fis1 |
T |
A |
5: 136,991,048 (GRCm39) |
V4E |
probably damaging |
Het |
| Gba2 |
T |
A |
4: 43,570,424 (GRCm39) |
|
probably null |
Het |
| Gm2381 |
C |
T |
7: 42,469,504 (GRCm39) |
G207R |
probably damaging |
Het |
| Gpr89 |
T |
A |
3: 96,804,640 (GRCm39) |
|
probably benign |
Het |
| Gtf2i |
A |
G |
5: 134,290,691 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
T |
G |
7: 55,762,958 (GRCm39) |
S896A |
probably damaging |
Het |
| Huwe1 |
T |
C |
X: 150,659,309 (GRCm39) |
S921P |
probably damaging |
Het |
| Iqgap1 |
T |
A |
7: 80,386,143 (GRCm39) |
K936I |
probably damaging |
Het |
| Kcna4 |
T |
A |
2: 107,125,927 (GRCm39) |
Y220* |
probably null |
Het |
| Krt18 |
A |
G |
15: 101,937,920 (GRCm39) |
D139G |
possibly damaging |
Het |
| Krt87 |
T |
C |
15: 101,384,921 (GRCm39) |
N392D |
probably damaging |
Het |
| L3mbtl4 |
G |
A |
17: 69,081,286 (GRCm39) |
C558Y |
probably damaging |
Het |
| Lamc2 |
T |
A |
1: 153,019,622 (GRCm39) |
I440F |
possibly damaging |
Het |
| Lrrc28 |
T |
C |
7: 67,267,833 (GRCm39) |
N98S |
probably damaging |
Het |
| Lrrk1 |
G |
A |
7: 65,942,084 (GRCm39) |
A718V |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,666 (GRCm39) |
I51V |
probably damaging |
Het |
| Myt1 |
A |
T |
2: 181,424,408 (GRCm39) |
R25* |
probably null |
Het |
| Npdc1 |
C |
T |
2: 25,298,021 (GRCm39) |
T199I |
probably benign |
Het |
| Nup98 |
T |
A |
7: 101,801,660 (GRCm39) |
Y755F |
probably damaging |
Het |
| Or51q1c |
A |
G |
7: 103,652,446 (GRCm39) |
|
probably null |
Het |
| Or5p69 |
T |
A |
7: 107,966,996 (GRCm39) |
C100S |
probably damaging |
Het |
| Or5p76 |
G |
T |
7: 108,122,289 (GRCm39) |
N289K |
probably damaging |
Het |
| Or8g22 |
T |
A |
9: 38,957,996 (GRCm39) |
M240L |
probably benign |
Het |
| Osgin1 |
A |
T |
8: 120,172,211 (GRCm39) |
Y335F |
probably damaging |
Het |
| Pde10a |
A |
T |
17: 9,161,797 (GRCm39) |
I493F |
probably damaging |
Het |
| Pdgfrb |
A |
G |
18: 61,212,780 (GRCm39) |
I895V |
probably benign |
Het |
| Peg10 |
T |
TCCCCANNANNNN |
6: 4,756,475 (GRCm39) |
|
probably benign |
Het |
| Pidd1 |
A |
T |
7: 141,020,726 (GRCm39) |
L457* |
probably null |
Het |
| Pik3c2a |
A |
G |
7: 115,945,482 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Plcg1 |
C |
T |
2: 160,595,283 (GRCm39) |
|
probably benign |
Het |
| Prr13 |
A |
C |
15: 102,370,650 (GRCm39) |
*138C |
probably null |
Het |
| Prrc2b |
T |
C |
2: 32,119,267 (GRCm39) |
|
probably benign |
Het |
| Psph |
T |
C |
5: 129,868,633 (GRCm39) |
|
probably benign |
Het |
| Ripor1 |
A |
G |
8: 106,344,746 (GRCm39) |
|
probably benign |
Het |
| Scg3 |
A |
G |
9: 75,576,617 (GRCm39) |
S253P |
probably damaging |
Het |
| Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
| Sgk1 |
A |
G |
10: 21,758,556 (GRCm39) |
N7D |
probably damaging |
Het |
| Skor2 |
T |
C |
18: 76,964,255 (GRCm39) |
F940L |
probably benign |
Het |
| Slbp |
T |
C |
5: 33,802,833 (GRCm39) |
|
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Susd5 |
A |
T |
9: 113,911,603 (GRCm39) |
H171L |
possibly damaging |
Het |
| Sybu |
T |
C |
15: 44,536,664 (GRCm39) |
E354G |
probably benign |
Het |
| Synpo |
T |
C |
18: 60,735,412 (GRCm39) |
N845D |
possibly damaging |
Het |
| Tdrd6 |
A |
T |
17: 43,939,050 (GRCm39) |
I666N |
probably damaging |
Het |
| Tm9sf4 |
T |
C |
2: 153,029,285 (GRCm39) |
I111T |
probably benign |
Het |
| Tnc |
T |
C |
4: 63,926,971 (GRCm39) |
T852A |
probably benign |
Het |
| Tnfrsf10b |
T |
A |
14: 70,013,625 (GRCm39) |
I185K |
probably damaging |
Het |
| Tnks1bp1 |
A |
G |
2: 84,892,974 (GRCm39) |
E305G |
possibly damaging |
Het |
| Tnrc6b |
T |
C |
15: 80,668,959 (GRCm39) |
V22A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,598,956 (GRCm39) |
F19319Y |
probably damaging |
Het |
| Ubr5 |
T |
C |
15: 38,031,051 (GRCm39) |
|
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,627 (GRCm39) |
Q191L |
probably benign |
Het |
| Urod |
T |
C |
4: 116,848,473 (GRCm39) |
T300A |
probably benign |
Het |
| Vmn1r213 |
A |
G |
13: 23,195,564 (GRCm39) |
|
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 |
|
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 |
|
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'- GCTCAAACCTAGCAGGTGGAACTG -3'
(R):5'- CCATTGAACGTGAGTCCTTGGGTC -3'
Sequencing Primer
(F):5'- CTGGACTACAACAGCGTCAGG -3'
(R):5'- GGGACCACGGTGTTCTTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation