Incidental Mutation 'R7993:Znfx1'
| ID |
651846 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Znfx1
|
| Ensembl Gene |
ENSMUSG00000039501 |
| Gene Name |
zinc finger, NFX1-type containing 1 |
| Synonyms |
|
| MMRRC Submission |
046034-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7993 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
166877713-166904935 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 166897857 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 356
(E356*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048988]
[ENSMUST00000128676]
[ENSMUST00000155281]
|
| AlphaFold |
Q8R151 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048988
AA Change: E356*
|
| SMART Domains |
Protein: ENSMUSP00000049404
Gene: ENSMUSG00000039501
AA Change: E356*
| 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: E356*
|
| SMART Domains |
Protein: ENSMUSP00000121598
Gene: ENSMUSG00000039501
AA Change: E356*
| 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 null
Transcript: ENSMUST00000155281
AA Change: E356*
|
| SMART Domains |
Protein: ENSMUSP00000121750
Gene: ENSMUSG00000039501
AA Change: E356*
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (69/69) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
A |
19: 43,803,231 (GRCm39) |
V689D |
possibly damaging |
Het |
| Adamts17 |
T |
C |
7: 66,499,612 (GRCm39) |
V53A |
possibly damaging |
Het |
| Adcy9 |
T |
C |
16: 4,235,866 (GRCm39) |
N515S |
probably damaging |
Het |
| Aoc1l3 |
T |
A |
6: 48,964,542 (GRCm39) |
N183K |
possibly damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,878 (GRCm39) |
V88A |
possibly damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,700,406 (GRCm39) |
|
probably null |
Het |
| Baz2a |
T |
C |
10: 127,961,491 (GRCm39) |
F1706L |
probably benign |
Het |
| Cacnb2 |
A |
C |
2: 14,968,731 (GRCm39) |
N199T |
probably benign |
Het |
| Caskin1 |
T |
A |
17: 24,718,279 (GRCm39) |
Y296* |
probably null |
Het |
| Cemip |
C |
A |
7: 83,613,383 (GRCm39) |
G605V |
probably damaging |
Het |
| Ciart |
T |
A |
3: 95,786,206 (GRCm39) |
K290* |
probably null |
Het |
| Cideb |
G |
T |
14: 55,995,899 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
A |
T |
6: 30,793,097 (GRCm39) |
Y413N |
probably damaging |
Het |
| Csrp1 |
T |
A |
1: 135,674,453 (GRCm39) |
|
probably null |
Het |
| Cyp2j8 |
C |
T |
4: 96,335,456 (GRCm39) |
|
probably null |
Het |
| Dcbld1 |
T |
A |
10: 52,137,884 (GRCm39) |
Y49* |
probably null |
Het |
| Dpep1 |
T |
C |
8: 123,927,460 (GRCm39) |
V338A |
possibly damaging |
Het |
| Exoc2 |
A |
G |
13: 31,090,713 (GRCm39) |
|
probably null |
Het |
| Fcho2 |
A |
T |
13: 98,888,524 (GRCm39) |
|
probably null |
Het |
| Foxd3 |
C |
T |
4: 99,544,841 (GRCm39) |
|
probably benign |
Het |
| Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
| Gipc3 |
T |
C |
10: 81,173,805 (GRCm39) |
D269G |
probably damaging |
Het |
| Gm4861 |
G |
A |
3: 137,256,417 (GRCm39) |
T63M |
probably damaging |
Het |
| Hmga1b |
C |
A |
11: 120,653,833 (GRCm39) |
A40E |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,306,264 (GRCm39) |
M3889K |
probably benign |
Het |
| Inhca |
T |
A |
9: 103,140,332 (GRCm39) |
K462N |
probably benign |
Het |
| Klk14 |
T |
A |
7: 43,344,367 (GRCm39) |
M226K |
probably benign |
Het |
| Liph |
T |
G |
16: 21,777,562 (GRCm39) |
M413L |
probably benign |
Het |
| Lrrc37a |
T |
C |
11: 103,348,787 (GRCm39) |
D2636G |
unknown |
Het |
| Lrrk1 |
G |
A |
7: 65,912,202 (GRCm39) |
T1786M |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,135,057 (GRCm39) |
S1958G |
possibly damaging |
Het |
| Msto1 |
A |
G |
3: 88,817,481 (GRCm39) |
F484S |
probably benign |
Het |
| Muc2 |
C |
T |
7: 141,308,173 (GRCm39) |
H890Y |
|
Het |
| Nectin3 |
T |
C |
16: 46,279,184 (GRCm39) |
I265V |
probably benign |
Het |
| Nectin4 |
C |
T |
1: 171,211,322 (GRCm39) |
T282I |
probably damaging |
Het |
| Nfat5 |
T |
A |
8: 108,082,134 (GRCm39) |
|
probably null |
Het |
| Nsmaf |
T |
C |
4: 6,398,647 (GRCm39) |
D819G |
probably benign |
Het |
| Or8b8 |
A |
T |
9: 37,808,633 (GRCm39) |
|
probably benign |
Het |
| Pcdhb1 |
A |
T |
18: 37,400,044 (GRCm39) |
D665V |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,895,262 (GRCm39) |
D616G |
|
Het |
| Plppr2 |
A |
T |
9: 21,858,258 (GRCm39) |
H286L |
probably damaging |
Het |
| Polrmt |
T |
C |
10: 79,572,085 (GRCm39) |
T1203A |
probably damaging |
Het |
| Ppm1d |
T |
A |
11: 85,217,777 (GRCm39) |
V180E |
probably damaging |
Het |
| Ppp1r18 |
T |
A |
17: 36,184,718 (GRCm39) |
I551N |
probably benign |
Het |
| Psg28 |
C |
T |
7: 18,160,401 (GRCm39) |
C265Y |
possibly damaging |
Het |
| Psmc1 |
A |
G |
12: 100,081,824 (GRCm39) |
D142G |
probably benign |
Het |
| Rabgap1l |
G |
T |
1: 160,528,424 (GRCm39) |
A394E |
probably damaging |
Het |
| Rbm48 |
G |
A |
5: 3,640,470 (GRCm39) |
P303L |
probably benign |
Het |
| Rnf167 |
T |
C |
11: 70,540,821 (GRCm39) |
V185A |
probably benign |
Het |
| Ros1 |
T |
A |
10: 51,999,443 (GRCm39) |
Q1169L |
probably benign |
Het |
| Rrp1b |
A |
G |
17: 32,277,541 (GRCm39) |
D607G |
probably damaging |
Het |
| Scamp1 |
A |
G |
13: 94,366,294 (GRCm39) |
Y134H |
probably damaging |
Het |
| Scfd1 |
G |
A |
12: 51,492,490 (GRCm39) |
E600K |
probably damaging |
Het |
| Scn3b |
A |
G |
9: 40,193,840 (GRCm39) |
E189G |
possibly damaging |
Het |
| Scn4b |
G |
T |
9: 45,059,007 (GRCm39) |
V93L |
probably benign |
Het |
| Serpina3i |
A |
T |
12: 104,231,407 (GRCm39) |
T15S |
possibly damaging |
Het |
| Slc2a13 |
A |
T |
15: 91,296,356 (GRCm39) |
C319* |
probably null |
Het |
| Tdrd1 |
A |
G |
19: 56,854,437 (GRCm39) |
|
probably null |
Het |
| Tep1 |
T |
A |
14: 51,067,710 (GRCm39) |
I2169F |
probably benign |
Het |
| Tm4sf19 |
A |
G |
16: 32,226,458 (GRCm39) |
D124G |
possibly damaging |
Het |
| Trim2 |
T |
C |
3: 84,098,026 (GRCm39) |
Y434C |
probably damaging |
Het |
| Usp34 |
T |
A |
11: 23,327,622 (GRCm39) |
S1056T |
|
Het |
| Vmn1r230 |
T |
A |
17: 21,067,312 (GRCm39) |
M167K |
probably benign |
Het |
| Vmn2r14 |
T |
A |
5: 109,363,862 (GRCm39) |
M685L |
probably benign |
Het |
| Zfhx4 |
T |
A |
3: 5,478,047 (GRCm39) |
V3554D |
probably damaging |
Het |
| Zfp1010 |
C |
T |
2: 176,957,015 (GRCm39) |
G161D |
probably damaging |
Het |
| Zfp458 |
A |
G |
13: 67,405,234 (GRCm39) |
S402P |
probably damaging |
Het |
| Zfp462 |
C |
A |
4: 55,011,907 (GRCm39) |
A1291E |
probably damaging |
Het |
| Zmat5 |
G |
A |
11: 4,672,379 (GRCm39) |
|
probably benign |
Het |
| Zswim5 |
A |
G |
4: 116,808,291 (GRCm39) |
T292A |
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 |
|
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 |
|
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'- TTTGTACACGATGCCAGAGG -3'
(R):5'- CCTGGAAAAGGTACAGGCTATC -3'
Sequencing Primer
(F):5'- CAGAGGCTGAGCACATCG -3'
(R):5'- CAGGCTATCATTAAGTATCTGCAGG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation