Incidental Mutation 'R7017:Znfx1'
| ID |
545353 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
045118-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7017 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 166890454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 677
(S677G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048988
AA Change: S677G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: S677G
| 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: S677G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: S677G
| 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: S677G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: S677G
| 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 |
0.2325 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (75/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
A |
G |
17: 37,288,926 (GRCm39) |
|
probably benign |
Het |
| Acot3 |
A |
T |
12: 84,100,077 (GRCm39) |
|
probably benign |
Het |
| Add3 |
T |
A |
19: 53,222,284 (GRCm39) |
V297E |
possibly damaging |
Het |
| Arfgap1 |
C |
G |
2: 180,618,097 (GRCm39) |
|
probably null |
Het |
| Cacna1i |
T |
C |
15: 80,264,671 (GRCm39) |
F1500L |
probably damaging |
Het |
| Cacna1s |
T |
C |
1: 136,023,596 (GRCm39) |
I945T |
probably damaging |
Het |
| Ccdc180 |
T |
A |
4: 45,940,934 (GRCm39) |
N1334K |
possibly damaging |
Het |
| Cd5l |
C |
A |
3: 87,273,368 (GRCm39) |
Y112* |
probably null |
Het |
| Cracd |
GAGGCAGCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG |
GAGACAACGCGAGGCCGAGAGGCAGG |
5: 77,004,795 (GRCm39) |
|
probably benign |
Het |
| Cyp2d40 |
A |
T |
15: 82,644,234 (GRCm39) |
F297Y |
unknown |
Het |
| Ddx4 |
C |
T |
13: 112,738,022 (GRCm39) |
V546I |
probably damaging |
Het |
| Dgkg |
T |
C |
16: 22,391,463 (GRCm39) |
M332V |
probably benign |
Het |
| Dnah12 |
T |
C |
14: 26,456,835 (GRCm39) |
I867T |
probably benign |
Het |
| Dnah2 |
T |
A |
11: 69,382,373 (GRCm39) |
K1246* |
probably null |
Het |
| Drd2 |
G |
A |
9: 49,312,129 (GRCm39) |
V161I |
probably benign |
Het |
| Dsp |
A |
G |
13: 38,370,683 (GRCm39) |
D862G |
probably benign |
Het |
| Ephx4 |
T |
C |
5: 107,553,980 (GRCm39) |
F10S |
probably damaging |
Het |
| Fabp9 |
C |
A |
3: 10,259,756 (GRCm39) |
A76S |
possibly damaging |
Het |
| Fat4 |
G |
A |
3: 38,945,692 (GRCm39) |
M1528I |
probably benign |
Het |
| Fbxl12 |
A |
G |
9: 20,529,616 (GRCm39) |
S84P |
unknown |
Het |
| Fbxo40 |
T |
C |
16: 36,790,732 (GRCm39) |
D126G |
probably damaging |
Het |
| Fpr1 |
C |
T |
17: 18,097,654 (GRCm39) |
V112I |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,427,023 (GRCm39) |
N2975S |
probably benign |
Het |
| Gask1a |
T |
C |
9: 121,795,052 (GRCm39) |
|
probably null |
Het |
| Gm7945 |
T |
C |
14: 41,105,610 (GRCm39) |
Y156C |
|
Het |
| Gnpat |
T |
C |
8: 125,590,014 (GRCm39) |
V13A |
probably benign |
Het |
| Gpx5 |
G |
A |
13: 21,475,561 (GRCm39) |
P55L |
probably damaging |
Het |
| Hbp1 |
A |
G |
12: 31,993,852 (GRCm39) |
S59P |
probably damaging |
Het |
| Ighv1-36 |
T |
A |
12: 114,843,533 (GRCm39) |
D109V |
probably damaging |
Het |
| Iqcf5 |
T |
A |
9: 106,392,863 (GRCm39) |
I40N |
possibly damaging |
Het |
| Kcnma1 |
T |
G |
14: 23,544,711 (GRCm39) |
I484L |
possibly damaging |
Het |
| Kera |
A |
T |
10: 97,444,939 (GRCm39) |
R99S |
possibly damaging |
Het |
| Kif3b |
T |
A |
2: 153,171,644 (GRCm39) |
S707R |
possibly damaging |
Het |
| Lilra6 |
G |
T |
7: 3,911,707 (GRCm39) |
T317N |
possibly damaging |
Het |
| Lrrc15 |
C |
T |
16: 30,091,780 (GRCm39) |
E520K |
probably benign |
Het |
| Lrrc34 |
C |
T |
3: 30,699,465 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
G |
18: 46,983,745 (GRCm39) |
T163A |
probably benign |
Het |
| Met |
T |
A |
6: 17,491,286 (GRCm39) |
L16* |
probably null |
Het |
| Mpzl2 |
G |
T |
9: 44,958,587 (GRCm39) |
D108Y |
probably benign |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,585 (GRCm39) |
I47F |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,363,424 (GRCm39) |
|
probably benign |
Het |
| Mybphl |
T |
A |
3: 108,282,154 (GRCm39) |
V128E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,030,398 (GRCm39) |
D231E |
probably damaging |
Het |
| Or5g23 |
T |
A |
2: 85,438,673 (GRCm39) |
M194L |
probably benign |
Het |
| Orm1 |
T |
A |
4: 63,263,448 (GRCm39) |
I87K |
probably benign |
Het |
| Pdgfrb |
C |
T |
18: 61,214,076 (GRCm39) |
P954S |
probably benign |
Het |
| Pdzd8 |
G |
T |
19: 59,333,784 (GRCm39) |
S79* |
probably null |
Het |
| Pdzd9 |
T |
A |
7: 120,262,225 (GRCm39) |
H79L |
probably benign |
Het |
| Plcg1 |
A |
T |
2: 160,600,017 (GRCm39) |
I926F |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,057,741 (GRCm39) |
F4078L |
probably damaging |
Het |
| Plek |
G |
A |
11: 17,002,220 (GRCm39) |
|
probably benign |
Het |
| Pogz |
T |
C |
3: 94,761,335 (GRCm39) |
I25T |
probably damaging |
Het |
| Ppfia3 |
A |
T |
7: 45,008,224 (GRCm39) |
D215E |
probably benign |
Het |
| Psg22 |
C |
A |
7: 18,458,366 (GRCm39) |
S352R |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,813,626 (GRCm39) |
Y509C |
probably damaging |
Het |
| Ralgapb |
C |
A |
2: 158,290,257 (GRCm39) |
N389K |
probably benign |
Het |
| Rdh1 |
A |
G |
10: 127,598,906 (GRCm39) |
D129G |
probably benign |
Het |
| Rimbp3 |
A |
G |
16: 17,027,610 (GRCm39) |
T345A |
probably benign |
Het |
| S100a14 |
T |
C |
3: 90,434,602 (GRCm39) |
|
probably null |
Het |
| Scamp1 |
T |
A |
13: 94,361,423 (GRCm39) |
R152S |
probably damaging |
Het |
| Slc30a2 |
G |
A |
4: 134,074,726 (GRCm39) |
R161Q |
probably damaging |
Het |
| Srf |
T |
C |
17: 46,861,830 (GRCm39) |
T383A |
probably benign |
Het |
| St6galnac5 |
T |
C |
3: 152,552,040 (GRCm39) |
M176V |
probably damaging |
Het |
| St8sia1 |
C |
A |
6: 142,813,632 (GRCm39) |
V177F |
probably damaging |
Het |
| Syt12 |
C |
T |
19: 4,510,895 (GRCm39) |
|
probably null |
Het |
| Tanc2 |
A |
G |
11: 105,813,934 (GRCm39) |
I1793V |
probably benign |
Het |
| Tas2r123 |
A |
G |
6: 132,824,513 (GRCm39) |
I137V |
probably benign |
Het |
| Tenm2 |
T |
A |
11: 36,062,236 (GRCm39) |
Y543F |
probably damaging |
Het |
| Tent5b |
T |
C |
4: 133,213,545 (GRCm39) |
S139P |
possibly damaging |
Het |
| Tgfbr1 |
T |
C |
4: 47,410,728 (GRCm39) |
I488T |
probably damaging |
Het |
| Tgm1 |
T |
A |
14: 55,942,398 (GRCm39) |
Y651F |
possibly damaging |
Het |
| Thbs3 |
A |
T |
3: 89,131,722 (GRCm39) |
D698V |
probably damaging |
Het |
| Tpra1 |
T |
A |
6: 88,885,294 (GRCm39) |
I82N |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,120,401 (GRCm39) |
D275E |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Wwp1 |
T |
C |
4: 19,623,124 (GRCm39) |
Y787C |
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 |
|
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'- AGCCTGCTAGAAAGTGGCTG -3'
(R):5'- AGTGTTAAAGCCAGAGTCCTC -3'
Sequencing Primer
(F):5'- CCTGCTAGAAAGTGGCTGCTATG -3'
(R):5'- CTCGGCAGCCCAAATTTTATCAGTAG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation