Incidental Mutation 'R8941:Zfp729b'
ID |
681003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp729b
|
Ensembl Gene |
ENSMUSG00000058093 |
Gene Name |
zinc finger protein 729b |
Synonyms |
AA987161 |
MMRRC Submission |
068781-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R8941 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
67737558-67757767 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 67741218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 349
(M349T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000012873
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012873]
[ENSMUST00000138725]
[ENSMUST00000224814]
[ENSMUST00000225627]
|
AlphaFold |
Q80VN4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012873
AA Change: M349T
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000012873 Gene: ENSMUSG00000058093 AA Change: M349T
Domain | Start | End | E-Value | Type |
KRAB
|
5 |
65 |
1.63e-28 |
SMART |
ZnF_C2H2
|
132 |
154 |
3.58e-2 |
SMART |
PHD
|
133 |
194 |
1e1 |
SMART |
ZnF_C2H2
|
160 |
182 |
3.21e-4 |
SMART |
ZnF_C2H2
|
188 |
210 |
6.78e-3 |
SMART |
ZnF_C2H2
|
216 |
238 |
3.16e-3 |
SMART |
PHD
|
217 |
278 |
7.77e0 |
SMART |
ZnF_C2H2
|
244 |
266 |
6.67e-2 |
SMART |
ZnF_C2H2
|
272 |
294 |
1.12e-3 |
SMART |
ZnF_C2H2
|
300 |
322 |
1.79e-2 |
SMART |
PHD
|
301 |
362 |
1.65e1 |
SMART |
ZnF_C2H2
|
328 |
350 |
2.57e-3 |
SMART |
ZnF_C2H2
|
356 |
378 |
2.43e-4 |
SMART |
ZnF_C2H2
|
412 |
434 |
1.67e-2 |
SMART |
ZnF_C2H2
|
440 |
462 |
1.28e-3 |
SMART |
PHD
|
441 |
502 |
4.46e0 |
SMART |
ZnF_C2H2
|
468 |
490 |
1.58e-3 |
SMART |
ZnF_C2H2
|
496 |
518 |
2.95e-3 |
SMART |
ZnF_C2H2
|
524 |
546 |
4.47e-3 |
SMART |
PHD
|
525 |
586 |
5.77e0 |
SMART |
ZnF_C2H2
|
552 |
574 |
5.42e-2 |
SMART |
ZnF_C2H2
|
580 |
602 |
1.03e-2 |
SMART |
ZnF_C2H2
|
608 |
630 |
5.5e-3 |
SMART |
PHD
|
609 |
670 |
1.52e1 |
SMART |
ZnF_C2H2
|
636 |
658 |
6.99e-5 |
SMART |
ZnF_C2H2
|
664 |
686 |
3.34e-2 |
SMART |
ZnF_C2H2
|
720 |
742 |
3.63e-3 |
SMART |
PHD
|
721 |
782 |
2.67e0 |
SMART |
ZnF_C2H2
|
748 |
770 |
5.42e-2 |
SMART |
ZnF_C2H2
|
776 |
798 |
5.14e-3 |
SMART |
ZnF_C2H2
|
804 |
826 |
4.17e-3 |
SMART |
ZnF_C2H2
|
832 |
854 |
1.47e-3 |
SMART |
PHD
|
833 |
894 |
4.93e0 |
SMART |
ZnF_C2H2
|
860 |
882 |
3.83e-2 |
SMART |
ZnF_C2H2
|
888 |
910 |
4.4e-2 |
SMART |
ZnF_C2H2
|
916 |
938 |
7.78e-3 |
SMART |
ZnF_C2H2
|
944 |
966 |
4.17e-3 |
SMART |
ZnF_C2H2
|
972 |
994 |
1.38e-3 |
SMART |
ZnF_C2H2
|
1000 |
1022 |
1.69e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138725
|
SMART Domains |
Protein: ENSMUSP00000115783 Gene: ENSMUSG00000058093
Domain | Start | End | E-Value | Type |
KRAB
|
15 |
75 |
1.63e-28 |
SMART |
ZnF_C2H2
|
142 |
164 |
3.58e-2 |
SMART |
ZnF_C2H2
|
170 |
192 |
3.21e-4 |
SMART |
ZnF_C2H2
|
198 |
220 |
6.78e-3 |
SMART |
ZnF_C2H2
|
226 |
248 |
3.16e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224814
AA Change: M359T
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000225627
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2010315B03Rik |
T |
A |
9: 124,056,679 (GRCm39) |
T103S |
probably benign |
Het |
Aadacl2fm3 |
A |
G |
3: 59,784,400 (GRCm39) |
Y291C |
probably damaging |
Het |
Aass |
A |
T |
6: 23,075,261 (GRCm39) |
|
probably benign |
Het |
Adgrb3 |
A |
T |
1: 25,133,235 (GRCm39) |
C1284S |
probably damaging |
Het |
Adora2a |
G |
A |
10: 75,169,559 (GRCm39) |
W341* |
probably null |
Het |
Afg2a |
T |
A |
3: 37,486,142 (GRCm39) |
L288H |
probably damaging |
Het |
Arap1 |
G |
A |
7: 101,057,324 (GRCm39) |
R1355Q |
possibly damaging |
Het |
Asic5 |
A |
T |
3: 81,913,915 (GRCm39) |
|
probably benign |
Het |
Canx |
T |
C |
11: 50,195,270 (GRCm39) |
D266G |
possibly damaging |
Het |
Cfap57 |
A |
T |
4: 118,426,799 (GRCm39) |
Y1080N |
probably damaging |
Het |
Chat |
C |
T |
14: 32,130,963 (GRCm39) |
M559I |
probably benign |
Het |
Chd5 |
G |
A |
4: 152,463,305 (GRCm39) |
S1425N |
possibly damaging |
Het |
Cog8 |
T |
C |
8: 107,783,202 (GRCm39) |
D29G |
probably damaging |
Het |
Cox15 |
A |
G |
19: 43,732,172 (GRCm39) |
S215P |
probably benign |
Het |
Cramp1 |
C |
T |
17: 25,202,114 (GRCm39) |
G456D |
probably damaging |
Het |
Dbt |
T |
C |
3: 116,339,698 (GRCm39) |
V362A |
probably damaging |
Het |
Dio1 |
C |
A |
4: 107,164,147 (GRCm39) |
A57S |
probably benign |
Het |
F5 |
C |
A |
1: 164,026,440 (GRCm39) |
H1671N |
probably benign |
Het |
Gm6309 |
A |
G |
5: 146,107,155 (GRCm39) |
Y64H |
probably damaging |
Het |
Hipk1 |
A |
G |
3: 103,660,743 (GRCm39) |
C731R |
probably damaging |
Het |
Hmgcl |
G |
A |
4: 135,683,015 (GRCm39) |
A156T |
probably damaging |
Het |
Il15ra |
A |
T |
2: 11,737,995 (GRCm39) |
T210S |
possibly damaging |
Het |
Kat8 |
T |
C |
7: 127,524,400 (GRCm39) |
L426P |
probably damaging |
Het |
Lrrc39 |
G |
T |
3: 116,359,496 (GRCm39) |
V14L |
probably damaging |
Het |
Lrrc7 |
T |
C |
3: 157,869,593 (GRCm39) |
M709V |
probably benign |
Het |
Mdm4 |
T |
C |
1: 132,919,671 (GRCm39) |
H398R |
probably benign |
Het |
Mroh2b |
A |
T |
15: 4,991,606 (GRCm39) |
Q1568L |
possibly damaging |
Het |
Myo18b |
G |
A |
5: 113,022,795 (GRCm39) |
|
probably benign |
Het |
Nr4a3 |
C |
A |
4: 48,051,756 (GRCm39) |
P170Q |
possibly damaging |
Het |
Ntrk2 |
A |
G |
13: 59,208,109 (GRCm39) |
M652V |
probably damaging |
Het |
Or10n7-ps1 |
A |
T |
9: 39,597,812 (GRCm39) |
*143K |
probably null |
Het |
Or5b95 |
G |
A |
19: 12,657,471 (GRCm39) |
|
probably benign |
Het |
Paxbp1 |
T |
C |
16: 90,832,815 (GRCm39) |
I325V |
possibly damaging |
Het |
Pcare |
T |
C |
17: 72,059,137 (GRCm39) |
H180R |
probably benign |
Het |
Pi4ka |
G |
T |
16: 17,114,807 (GRCm39) |
|
probably benign |
Het |
Pira13 |
A |
G |
7: 3,825,380 (GRCm39) |
S421P |
probably damaging |
Het |
Pou6f1 |
T |
A |
15: 100,489,742 (GRCm39) |
D74V |
probably damaging |
Het |
Prpsap2 |
C |
A |
11: 61,627,870 (GRCm39) |
R202L |
probably damaging |
Het |
Ptprn |
A |
T |
1: 75,228,407 (GRCm39) |
L890Q |
probably damaging |
Het |
Ramp1 |
C |
G |
1: 91,134,137 (GRCm39) |
P97A |
probably benign |
Het |
Rapgefl1 |
A |
G |
11: 98,731,101 (GRCm39) |
D179G |
probably damaging |
Het |
Rbp3 |
T |
A |
14: 33,678,486 (GRCm39) |
F811L |
possibly damaging |
Het |
Rnf213 |
C |
A |
11: 119,305,250 (GRCm39) |
L494M |
probably damaging |
Het |
Rpl4 |
A |
G |
9: 64,082,245 (GRCm39) |
N48S |
probably benign |
Het |
Rsbn1l |
A |
G |
5: 21,110,841 (GRCm39) |
V499A |
probably damaging |
Het |
Sacs |
A |
G |
14: 61,430,022 (GRCm39) |
T691A |
probably benign |
Het |
Sass6 |
T |
C |
3: 116,407,709 (GRCm39) |
V275A |
probably benign |
Het |
Sdcbp |
T |
C |
4: 6,393,661 (GRCm39) |
S259P |
probably benign |
Het |
Sephs2 |
A |
G |
7: 126,872,206 (GRCm39) |
F296L |
probably benign |
Het |
Slc12a4 |
C |
T |
8: 106,673,322 (GRCm39) |
|
probably null |
Het |
Snrk |
G |
A |
9: 121,989,597 (GRCm39) |
V314I |
probably benign |
Het |
Tas1r3 |
C |
T |
4: 155,947,600 (GRCm39) |
|
probably null |
Het |
Tle3 |
T |
A |
9: 61,320,195 (GRCm39) |
V560E |
probably damaging |
Het |
Trdmt1 |
A |
G |
2: 13,526,918 (GRCm39) |
Y144H |
probably benign |
Het |
Trim42 |
T |
C |
9: 97,245,100 (GRCm39) |
T567A |
probably benign |
Het |
Tsbp1 |
A |
C |
17: 34,678,973 (GRCm39) |
R228S |
possibly damaging |
Het |
Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
Ube3c |
G |
A |
5: 29,842,769 (GRCm39) |
|
probably null |
Het |
Vwa3a |
A |
G |
7: 120,375,311 (GRCm39) |
D375G |
probably benign |
Het |
|
Other mutations in Zfp729b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02083:Zfp729b
|
APN |
13 |
67,743,349 (GRCm39) |
missense |
probably benign |
0.09 |
IGL02852:Zfp729b
|
APN |
13 |
67,740,942 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4449001:Zfp729b
|
UTSW |
13 |
67,739,542 (GRCm39) |
missense |
probably benign |
0.01 |
R0238:Zfp729b
|
UTSW |
13 |
67,740,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R0238:Zfp729b
|
UTSW |
13 |
67,740,022 (GRCm39) |
missense |
probably damaging |
0.98 |
R0450:Zfp729b
|
UTSW |
13 |
67,739,253 (GRCm39) |
missense |
probably benign |
|
R0510:Zfp729b
|
UTSW |
13 |
67,739,253 (GRCm39) |
missense |
probably benign |
|
R1122:Zfp729b
|
UTSW |
13 |
67,743,403 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1400:Zfp729b
|
UTSW |
13 |
67,740,913 (GRCm39) |
missense |
possibly damaging |
0.63 |
R1915:Zfp729b
|
UTSW |
13 |
67,741,339 (GRCm39) |
missense |
probably damaging |
1.00 |
R1929:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Zfp729b
|
UTSW |
13 |
67,743,384 (GRCm39) |
missense |
probably damaging |
0.99 |
R2270:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R2271:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R2344:Zfp729b
|
UTSW |
13 |
67,740,352 (GRCm39) |
missense |
probably damaging |
1.00 |
R2377:Zfp729b
|
UTSW |
13 |
67,739,820 (GRCm39) |
missense |
possibly damaging |
0.70 |
R2930:Zfp729b
|
UTSW |
13 |
67,739,973 (GRCm39) |
missense |
probably benign |
|
R3053:Zfp729b
|
UTSW |
13 |
67,741,585 (GRCm39) |
missense |
probably damaging |
1.00 |
R3404:Zfp729b
|
UTSW |
13 |
67,739,283 (GRCm39) |
missense |
probably damaging |
0.98 |
R4118:Zfp729b
|
UTSW |
13 |
67,740,829 (GRCm39) |
missense |
possibly damaging |
0.91 |
R4947:Zfp729b
|
UTSW |
13 |
67,744,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5408:Zfp729b
|
UTSW |
13 |
67,739,563 (GRCm39) |
missense |
probably benign |
0.18 |
R5511:Zfp729b
|
UTSW |
13 |
67,740,499 (GRCm39) |
missense |
probably damaging |
1.00 |
R5542:Zfp729b
|
UTSW |
13 |
67,739,140 (GRCm39) |
missense |
probably benign |
|
R5908:Zfp729b
|
UTSW |
13 |
67,739,374 (GRCm39) |
missense |
probably benign |
0.00 |
R5977:Zfp729b
|
UTSW |
13 |
67,739,740 (GRCm39) |
missense |
probably benign |
0.03 |
R5996:Zfp729b
|
UTSW |
13 |
67,741,977 (GRCm39) |
missense |
probably benign |
0.18 |
R7086:Zfp729b
|
UTSW |
13 |
67,741,056 (GRCm39) |
missense |
probably damaging |
0.99 |
R7146:Zfp729b
|
UTSW |
13 |
67,741,495 (GRCm39) |
missense |
probably damaging |
1.00 |
R7217:Zfp729b
|
UTSW |
13 |
67,743,367 (GRCm39) |
missense |
probably damaging |
0.96 |
R7332:Zfp729b
|
UTSW |
13 |
67,757,755 (GRCm39) |
splice site |
probably null |
|
R7472:Zfp729b
|
UTSW |
13 |
67,742,002 (GRCm39) |
missense |
probably benign |
0.00 |
R7615:Zfp729b
|
UTSW |
13 |
67,739,617 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7639:Zfp729b
|
UTSW |
13 |
67,739,971 (GRCm39) |
missense |
probably benign |
0.02 |
R7652:Zfp729b
|
UTSW |
13 |
67,739,371 (GRCm39) |
missense |
probably benign |
0.00 |
R7738:Zfp729b
|
UTSW |
13 |
67,740,194 (GRCm39) |
missense |
probably benign |
0.00 |
R8137:Zfp729b
|
UTSW |
13 |
67,740,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R8381:Zfp729b
|
UTSW |
13 |
67,739,617 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8402:Zfp729b
|
UTSW |
13 |
67,740,696 (GRCm39) |
missense |
probably damaging |
1.00 |
R9014:Zfp729b
|
UTSW |
13 |
67,740,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R9091:Zfp729b
|
UTSW |
13 |
67,740,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R9168:Zfp729b
|
UTSW |
13 |
67,741,942 (GRCm39) |
nonsense |
probably null |
|
R9270:Zfp729b
|
UTSW |
13 |
67,740,480 (GRCm39) |
missense |
probably damaging |
1.00 |
R9390:Zfp729b
|
UTSW |
13 |
67,742,014 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9390:Zfp729b
|
UTSW |
13 |
67,739,182 (GRCm39) |
missense |
probably benign |
0.00 |
R9442:Zfp729b
|
UTSW |
13 |
67,739,337 (GRCm39) |
missense |
probably benign |
0.25 |
R9620:Zfp729b
|
UTSW |
13 |
67,739,787 (GRCm39) |
missense |
probably damaging |
1.00 |
X0023:Zfp729b
|
UTSW |
13 |
67,740,578 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0028:Zfp729b
|
UTSW |
13 |
67,740,313 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:Zfp729b
|
UTSW |
13 |
67,741,189 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGGCCTTCCCACATACT -3'
(R):5'- GCAAGGCCTTCCACATTTCATC -3'
Sequencing Primer
(F):5'- GCCACATACTTCACATTTGTAGGG -3'
(R):5'- ACCCTACAAGTGTGAGGTATGTG -3'
|
Posted On |
2021-08-31 |