Incidental Mutation 'R1692:Zfp609'
| ID |
191871 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp609
|
| Ensembl Gene |
ENSMUSG00000040524 |
| Gene Name |
zinc finger protein 609 |
| Synonyms |
|
| MMRRC Submission |
039725-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.620)
|
| Stock # |
R1692 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65599673-65734846 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65702593 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 20
(T20A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123882
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000159109]
[ENSMUST00000160747]
|
| AlphaFold |
Q8BZ47 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159109
AA Change: T20A
PolyPhen 2
Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000124089
Gene: ENSMUSG00000040524
AA Change: T20A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
83 |
101 |
N/A |
INTRINSIC |
|
low complexity region
|
125 |
139 |
N/A |
INTRINSIC |
|
low complexity region
|
155 |
176 |
N/A |
INTRINSIC |
|
low complexity region
|
259 |
269 |
N/A |
INTRINSIC |
|
low complexity region
|
365 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
386 |
405 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
495 |
520 |
2.14e0 |
SMART |
|
low complexity region
|
629 |
638 |
N/A |
INTRINSIC |
|
low complexity region
|
657 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
738 |
N/A |
INTRINSIC |
|
low complexity region
|
1000 |
1020 |
N/A |
INTRINSIC |
|
low complexity region
|
1210 |
1219 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1273 |
N/A |
INTRINSIC |
|
low complexity region
|
1329 |
1348 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160747
AA Change: T20A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 93.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam12 |
A |
T |
7: 133,489,673 (GRCm39) |
*582R |
probably null |
Het |
| Agfg2 |
A |
G |
5: 137,662,633 (GRCm39) |
Y145H |
probably damaging |
Het |
| Aldh1a1 |
C |
T |
19: 20,608,182 (GRCm39) |
P335S |
probably damaging |
Het |
| Amotl1 |
T |
C |
9: 14,463,018 (GRCm39) |
R732G |
possibly damaging |
Het |
| Ankef1 |
A |
T |
2: 136,392,346 (GRCm39) |
I512F |
probably benign |
Het |
| Atg9a |
A |
T |
1: 75,166,999 (GRCm39) |
D17E |
probably benign |
Het |
| Atpsckmt |
T |
C |
15: 31,602,297 (GRCm39) |
|
probably null |
Het |
| Brd8 |
A |
T |
18: 34,742,886 (GRCm39) |
S253R |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,157 (GRCm39) |
E111G |
probably benign |
Het |
| Cd79a |
T |
A |
7: 24,600,881 (GRCm39) |
M192K |
probably damaging |
Het |
| Clcn1 |
T |
G |
6: 42,290,032 (GRCm39) |
F822L |
possibly damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,199 (GRCm39) |
Y346C |
probably damaging |
Het |
| Erbb3 |
A |
G |
10: 128,407,594 (GRCm39) |
I918T |
probably benign |
Het |
| Fbxw20 |
G |
T |
9: 109,050,777 (GRCm39) |
T377K |
possibly damaging |
Het |
| Fry |
A |
G |
5: 150,293,692 (GRCm39) |
I462V |
probably damaging |
Het |
| Gmip |
A |
G |
8: 70,266,553 (GRCm39) |
N251S |
probably benign |
Het |
| Gpx1 |
A |
G |
9: 108,216,674 (GRCm39) |
T55A |
possibly damaging |
Het |
| Hmcn2 |
T |
C |
2: 31,340,856 (GRCm39) |
V4443A |
possibly damaging |
Het |
| Kdm4d |
A |
T |
9: 14,375,807 (GRCm39) |
I17K |
probably benign |
Het |
| Lamc3 |
A |
G |
2: 31,811,793 (GRCm39) |
S927G |
probably null |
Het |
| Map7d1 |
G |
A |
4: 126,136,101 (GRCm39) |
P36S |
probably damaging |
Het |
| Mfsd13a |
C |
A |
19: 46,360,515 (GRCm39) |
H356N |
probably benign |
Het |
| Mtap |
C |
T |
4: 89,095,151 (GRCm39) |
R268C |
probably benign |
Het |
| Myo1a |
C |
T |
10: 127,555,203 (GRCm39) |
|
probably null |
Het |
| Myom3 |
T |
C |
4: 135,502,862 (GRCm39) |
L313P |
probably benign |
Het |
| Nrxn2 |
T |
A |
19: 6,569,298 (GRCm39) |
V1391E |
probably damaging |
Het |
| Otoa |
A |
C |
7: 120,690,774 (GRCm39) |
Q3P |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,626,717 (GRCm39) |
E576G |
probably damaging |
Het |
| Pigw |
A |
C |
11: 84,767,892 (GRCm39) |
L479R |
probably damaging |
Het |
| Pip5k1a |
A |
G |
3: 94,971,041 (GRCm39) |
I507T |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,138,123 (GRCm39) |
I157N |
probably benign |
Het |
| Rrm2b |
G |
A |
15: 37,927,566 (GRCm39) |
R115* |
probably null |
Het |
| Sall1 |
C |
T |
8: 89,755,028 (GRCm39) |
S1317N |
probably benign |
Het |
| Serpinb6b |
T |
G |
13: 33,158,978 (GRCm39) |
F179V |
probably damaging |
Het |
| Slc4a8 |
T |
A |
15: 100,698,454 (GRCm39) |
F648I |
probably damaging |
Het |
| Slc5a7 |
T |
C |
17: 54,588,754 (GRCm39) |
T298A |
probably damaging |
Het |
| Slit3 |
T |
C |
11: 35,550,171 (GRCm39) |
L830P |
probably damaging |
Het |
| Smarcc1 |
T |
A |
9: 110,003,072 (GRCm39) |
N387K |
possibly damaging |
Het |
| Tanc2 |
C |
T |
11: 105,748,326 (GRCm39) |
T486I |
probably benign |
Het |
| Tdp1 |
C |
T |
12: 99,921,260 (GRCm39) |
P599S |
probably damaging |
Het |
| Tmem33 |
A |
G |
5: 67,425,897 (GRCm39) |
D38G |
probably null |
Het |
| Uvrag |
C |
T |
7: 98,653,870 (GRCm39) |
R247Q |
probably benign |
Het |
| Vars1 |
T |
C |
17: 35,232,701 (GRCm39) |
V875A |
probably damaging |
Het |
| Vcl |
A |
G |
14: 21,074,250 (GRCm39) |
E879G |
probably damaging |
Het |
| Vmn1r231 |
C |
T |
17: 21,110,871 (GRCm39) |
V15I |
probably benign |
Het |
| Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,299 (GRCm39) |
H445Q |
probably damaging |
Het |
| Zmiz2 |
T |
A |
11: 6,350,795 (GRCm39) |
V515E |
probably damaging |
Het |
| Zmym5 |
G |
A |
14: 57,041,650 (GRCm39) |
T151M |
probably damaging |
Het |
| Zxdc |
C |
T |
6: 90,355,933 (GRCm39) |
Q481* |
probably null |
Het |
|
| Other mutations in Zfp609 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00956:Zfp609
|
APN |
9 |
65,610,045 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL01688:Zfp609
|
APN |
9 |
65,611,307 (GRCm39) |
missense |
probably benign |
|
|
IGL01718:Zfp609
|
APN |
9 |
65,609,682 (GRCm39) |
nonsense |
probably null |
|
|
IGL01860:Zfp609
|
APN |
9 |
65,610,116 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02441:Zfp609
|
APN |
9 |
65,610,611 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02490:Zfp609
|
APN |
9 |
65,611,250 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02614:Zfp609
|
APN |
9 |
65,610,072 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02794:Zfp609
|
APN |
9 |
65,611,602 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02959:Zfp609
|
APN |
9 |
65,610,675 (GRCm39) |
missense |
probably benign |
|
|
IGL02967:Zfp609
|
APN |
9 |
65,604,901 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL03036:Zfp609
|
APN |
9 |
65,609,927 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03182:Zfp609
|
APN |
9 |
65,608,287 (GRCm39) |
missense |
probably benign |
0.02 |
|
H8441:Zfp609
|
UTSW |
9 |
65,702,169 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0304:Zfp609
|
UTSW |
9 |
65,608,470 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0487:Zfp609
|
UTSW |
9 |
65,609,916 (GRCm39) |
missense |
unknown |
|
|
R0505:Zfp609
|
UTSW |
9 |
65,610,744 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0684:Zfp609
|
UTSW |
9 |
65,638,483 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1480:Zfp609
|
UTSW |
9 |
65,610,593 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1507:Zfp609
|
UTSW |
9 |
65,702,059 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1579:Zfp609
|
UTSW |
9 |
65,611,754 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1655:Zfp609
|
UTSW |
9 |
65,610,836 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R1701:Zfp609
|
UTSW |
9 |
65,638,282 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1735:Zfp609
|
UTSW |
9 |
65,610,374 (GRCm39) |
nonsense |
probably null |
|
|
R1883:Zfp609
|
UTSW |
9 |
65,702,040 (GRCm39) |
missense |
probably benign |
|
|
R1970:Zfp609
|
UTSW |
9 |
65,702,559 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2059:Zfp609
|
UTSW |
9 |
65,611,716 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R2302:Zfp609
|
UTSW |
9 |
65,702,179 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3404:Zfp609
|
UTSW |
9 |
65,608,454 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R3405:Zfp609
|
UTSW |
9 |
65,608,454 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4514:Zfp609
|
UTSW |
9 |
65,610,977 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4533:Zfp609
|
UTSW |
9 |
65,610,890 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5043:Zfp609
|
UTSW |
9 |
65,608,109 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5499:Zfp609
|
UTSW |
9 |
65,610,137 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7081:Zfp609
|
UTSW |
9 |
65,609,723 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7514:Zfp609
|
UTSW |
9 |
65,613,418 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7677:Zfp609
|
UTSW |
9 |
65,604,456 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7684:Zfp609
|
UTSW |
9 |
65,638,362 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8229:Zfp609
|
UTSW |
9 |
65,610,782 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8266:Zfp609
|
UTSW |
9 |
65,610,996 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8278:Zfp609
|
UTSW |
9 |
65,604,804 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8934:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8938:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8940:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8986:Zfp609
|
UTSW |
9 |
65,610,561 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9267:Zfp609
|
UTSW |
9 |
65,608,328 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R9456:Zfp609
|
UTSW |
9 |
65,611,125 (GRCm39) |
missense |
|
|
|
R9561:Zfp609
|
UTSW |
9 |
65,604,512 (GRCm39) |
nonsense |
probably null |
|
|
X0028:Zfp609
|
UTSW |
9 |
65,604,362 (GRCm39) |
small deletion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCACTGGGGTGACAAACTTGATG -3'
(R):5'- AAGCCTTTCAGGAAGGGGCAAC -3'
Sequencing Primer
(F):5'- ACAAACTTGATGTTGTCTGGTAG -3'
(R):5'- TTGCCCACTGAGGCATGATAG -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation