Incidental Mutation 'IGL02496:Znfx1'
| ID |
295829 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02496
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 166889550 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 731
(C731S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000067584]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048988
AA Change: C731S
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: C731S
| 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 |
possibly damaging
Transcript: ENSMUST00000128676
AA Change: C731S
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: C731S
| 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: C731S
PolyPhen 2
Score 0.704 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: C731S
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
G |
1: 71,327,712 (GRCm39) |
H1456P |
possibly damaging |
Het |
| Abcg1 |
C |
A |
17: 31,324,578 (GRCm39) |
H274Q |
probably damaging |
Het |
| Adamts4 |
G |
A |
1: 171,078,512 (GRCm39) |
R44Q |
probably benign |
Het |
| Amigo2 |
A |
T |
15: 97,143,494 (GRCm39) |
C309* |
probably null |
Het |
| Ccdc88c |
A |
C |
12: 100,919,552 (GRCm39) |
S446A |
probably benign |
Het |
| Cd9 |
A |
T |
6: 125,449,458 (GRCm39) |
V28E |
probably damaging |
Het |
| Cops2 |
A |
T |
2: 125,678,163 (GRCm39) |
|
probably benign |
Het |
| Csn1s1 |
C |
T |
5: 87,825,453 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
G |
T |
17: 46,851,302 (GRCm39) |
R373S |
possibly damaging |
Het |
| D630045J12Rik |
G |
T |
6: 38,126,640 (GRCm39) |
H1457N |
probably damaging |
Het |
| Dennd2b |
C |
A |
7: 109,155,442 (GRCm39) |
R436L |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,920,189 (GRCm39) |
S2235P |
probably damaging |
Het |
| Efr3b |
C |
T |
12: 4,033,391 (GRCm39) |
V139I |
probably benign |
Het |
| Fbxo10 |
A |
T |
4: 45,043,883 (GRCm39) |
W647R |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,930,919 (GRCm38) |
|
probably benign |
Het |
| Flnc |
G |
T |
6: 29,440,684 (GRCm39) |
V301L |
probably damaging |
Het |
| Hfm1 |
T |
C |
5: 107,049,627 (GRCm39) |
S445G |
probably benign |
Het |
| Hif3a |
A |
G |
7: 16,773,603 (GRCm39) |
|
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,288,220 (GRCm39) |
Y217H |
probably damaging |
Het |
| Iba57 |
T |
C |
11: 59,049,772 (GRCm39) |
T192A |
probably benign |
Het |
| Igkv5-48 |
A |
T |
6: 69,703,671 (GRCm39) |
I78N |
probably damaging |
Het |
| Inhbe |
A |
T |
10: 127,186,797 (GRCm39) |
W128R |
probably damaging |
Het |
| Ism1 |
T |
C |
2: 139,599,121 (GRCm39) |
C365R |
probably damaging |
Het |
| Kif19a |
A |
T |
11: 114,670,470 (GRCm39) |
T127S |
probably damaging |
Het |
| Kmt2d |
C |
A |
15: 98,755,439 (GRCm39) |
|
probably benign |
Het |
| Mmp20 |
A |
G |
9: 7,654,042 (GRCm39) |
R321G |
probably damaging |
Het |
| Msl2 |
T |
C |
9: 100,977,854 (GRCm39) |
M76T |
possibly damaging |
Het |
| Nme9 |
T |
C |
9: 99,351,684 (GRCm39) |
C223R |
probably damaging |
Het |
| Nucb1 |
G |
T |
7: 45,144,467 (GRCm39) |
|
probably benign |
Het |
| Ocrl |
G |
A |
X: 47,022,315 (GRCm39) |
D262N |
probably benign |
Het |
| Or13a18 |
A |
C |
7: 140,190,081 (GRCm39) |
M1L |
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,556 (GRCm39) |
I201N |
possibly damaging |
Het |
| Or6b1 |
A |
C |
6: 42,815,738 (GRCm39) |
I308L |
probably benign |
Het |
| P4ha1 |
A |
G |
10: 59,206,824 (GRCm39) |
|
probably null |
Het |
| Parp8 |
T |
C |
13: 116,998,838 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,468,507 (GRCm39) |
D476G |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,303,535 (GRCm39) |
E1685G |
possibly damaging |
Het |
| Plod2 |
T |
A |
9: 92,489,147 (GRCm39) |
L714Q |
probably damaging |
Het |
| Plscr2 |
A |
G |
9: 92,171,716 (GRCm39) |
I103V |
probably benign |
Het |
| Plscr3 |
C |
A |
11: 69,738,209 (GRCm39) |
|
probably benign |
Het |
| Pmaip1 |
A |
G |
18: 66,596,370 (GRCm39) |
R80G |
probably damaging |
Het |
| Ppm1d |
C |
T |
11: 85,230,492 (GRCm39) |
P370L |
possibly damaging |
Het |
| Prr36 |
C |
A |
8: 4,266,407 (GRCm39) |
E48* |
probably null |
Het |
| Ptgir |
G |
A |
7: 16,641,409 (GRCm39) |
V234I |
possibly damaging |
Het |
| Ptk7 |
A |
T |
17: 46,901,070 (GRCm39) |
V219E |
probably benign |
Het |
| Rab39b |
T |
A |
X: 74,618,609 (GRCm39) |
I74F |
probably damaging |
Het |
| Rasal2 |
A |
T |
1: 156,977,449 (GRCm39) |
M1075K |
possibly damaging |
Het |
| Rpl37a |
G |
A |
1: 72,750,885 (GRCm39) |
A20T |
probably null |
Het |
| Serpinb10 |
A |
C |
1: 107,466,155 (GRCm39) |
|
probably null |
Het |
| Sipa1l1 |
T |
A |
12: 82,471,868 (GRCm39) |
Y1283N |
probably damaging |
Het |
| Slc22a23 |
T |
A |
13: 34,528,468 (GRCm39) |
I105F |
possibly damaging |
Het |
| Slc25a20 |
T |
A |
9: 108,559,599 (GRCm39) |
I221N |
probably damaging |
Het |
| Smarcal1 |
A |
T |
1: 72,659,247 (GRCm39) |
H691L |
probably damaging |
Het |
| Smo |
A |
C |
6: 29,758,480 (GRCm39) |
T542P |
probably damaging |
Het |
| Spats2 |
T |
A |
15: 99,071,329 (GRCm39) |
I51N |
probably damaging |
Het |
| Spon1 |
G |
T |
7: 113,635,897 (GRCm39) |
V704L |
probably benign |
Het |
| Tex9 |
T |
A |
9: 72,389,774 (GRCm39) |
Q112L |
probably benign |
Het |
| Tgfbr2 |
T |
C |
9: 115,919,486 (GRCm39) |
E580G |
probably benign |
Het |
| Top2b |
T |
A |
14: 16,387,335 (GRCm38) |
V141E |
probably benign |
Het |
| Trhde |
A |
T |
10: 114,636,466 (GRCm39) |
L247* |
probably null |
Het |
| Umodl1 |
G |
T |
17: 31,217,628 (GRCm39) |
V1145F |
probably damaging |
Het |
| Vasp |
C |
A |
7: 18,992,748 (GRCm39) |
|
probably benign |
Het |
| Vmn1r8 |
G |
T |
6: 57,013,556 (GRCm39) |
L202F |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,787,837 (GRCm39) |
T505A |
probably benign |
Het |
| Wdr27 |
A |
G |
17: 15,112,693 (GRCm39) |
|
probably benign |
Het |
| Wfdc1 |
T |
G |
8: 120,406,909 (GRCm39) |
V109G |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,463,056 (GRCm39) |
E708* |
probably null |
Het |
| Zbtb1 |
T |
A |
12: 76,432,169 (GRCm39) |
F52I |
possibly damaging |
Het |
| Zfp236 |
A |
G |
18: 82,648,117 (GRCm39) |
S1015P |
probably damaging |
Het |
| Zfp532 |
T |
C |
18: 65,757,113 (GRCm39) |
S349P |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation